A characteristic symptom complex.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Elements of limited time intervals, contributing to particular results or situations.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.
A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)
A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Disease having a short and relatively severe course.
A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Actual loss of portion of a chromosome.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia.
A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)
Mapping of the KARYOTYPE of a cell.
Genes that influence the PHENOTYPE only in the homozygous state.
An individual having different alleles at one or more loci regarding a specific character.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Congenital craniostenosis with syndactyly.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.
Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Abnormally small jaw.
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.
A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.
Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. (1/151)

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation. Despite the presence of at least five loci in the human genome, on chromosomes 2q, 3p, 11q, 15q and 16q, as many as 50% of the mutations appear to map to the BBS1 locus on 11q13. The recessive mode of inheritance and the genetic heterogeneity of the syndrome, as well as the inability to distinguish between different genetic loci by phenotypic analyses, have hindered efforts to delineate the 11q13 region as a first step toward cloning the mutated gene. To circumvent these difficulties, we collected a large number of BBS pedigrees of primarily North American and European origin and performed genetic analysis, using microsatellites from all known BBS genomic regions. Heterogeneity analysis established a 40.5% contribution of the 11q13 locus to BBS, and haplotype construction on 11q-linked pedigrees revealed several informative recombinants, defining the BBS1 critical interval between D11S4205 and D11S913, a genetic distance of 2.9 cM, equivalent to approximately 2.6 Mb. Loss of identity by descent in two consanguineous pedigrees was also observed in the region, potentially refining the region to 1.8 Mb between D11S1883 and D11S4944. The identification of multiple recombinants at the same position forms the basis for physical mapping efforts, coupled with mutation analysis of candidate genes, to identify the gene for BBS1.  (+info)

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. (2/151)

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, obesity, male hypogenitalism, and renal anomalies. In the majority of northern European families with BBS, the syndrome is linked to a 26-cM region on chromosome 11q13. However, the finding, so far, of five distinct BBS loci (BBS1, 1q; BBS2, 16q; BBS3, 3p; BBS4, 15q; BBS5, 2q) has hampered the positional cloning of these genes. We use linkage disequilibrium (LD) mapping in an isolated founder population in Newfoundland to significantly reduce the BBS1 critical region. Extensive haplotyping in several unrelated BBS families of English descent revealed that the affected members were homozygous for overlapping portions of a rare, disease-associated ancestral haplotype on chromosome 11q13. The LD data suggest that the BBS1 gene lies in a 1-Mb, sequence-ready region on chromosome 11q13, which should enable its identification.  (+info)

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. (3/151)

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is late for such a debilitating condition, but the slow development of the clinical features of BBS probably accounts for this. Postaxial polydactyly had been present in 69% of patients at birth, but obesity had only begun to develop at around 2-3 years, and retinal degeneration had not become apparent until a mean age of 8.5 years. Our study identified some novel clinical features, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies. In the light of these features we propose a revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder. We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (polydactyly-obesity-kidney-eye syndrome). We report an increased prevalence of renal malformations and renal cell carcinoma in the unaffected relatives of BBS patients and suggest that these may be a consequence of heterozygosity for BBS genes. Our findings have important implications for the care of BBS patients and their unaffected relatives.  (+info)

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. (4/151)

BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with five loci identified thus far. The spectrum of disease includes diverse malformations of the kidney and lower urinary tract. The incidence of BBS is approximately 1/100,000 with a predicted heterozygote frequency of 1/160, and it has been suggested that heterozygotes are at increased risk of obesity and hypertension. METHODS: We describe renal disease in relatives of 109 UK BBS patients. Using PCR with fluorescent microsatellite markers we amplified DNA derived from renal tumours of affected parents to determine whether there was loss of heterozygosity at any of four BBS loci and two other gene loci associated with clear cell renal cell carcinoma (CC-RCC). RESULTS: CC-RCC was diagnosed in three of 180 BBS parents and there was loss of heterozygosity at BBS1 (11q13) in the tumour tissue of one of these subjects. In addition, there was a high incidence of renal agenesis in siblings of BBS patients and two BBS families were identified with apparently dominant inheritance of renal malformations. In one family we were able to demonstrate that renal malformations segregated with the BBS2 locus (16q21). CONCLUSIONS: Since all parents and two-thirds of siblings of BBS patients must be heterozygous for BBS mutations, our observations may implicate BBS genes in the pathogenesis of both renal cancer and malformations, both disorders of precursor cell growth and differentiation. We suggest these observations may have important implications for screening potential BBS carriers for kidney disease and may lead to a greater understanding of the aetiology of renal disease in the general population.  (+info)

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. (5/151)

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical heterogeneity of this condition have substantially hindered efforts to positionally clone the numerous BBS genes, because the majority of available pedigrees are small and the disorder cannot be assigned to any of the six known BBS loci. Consequently, the delineation of critical BBS intervals, which would accelerate the discovery of the underlying genetic defect(s), becomes difficult, especially for loci with minor contributions to the syndrome. We have collected a cohort of 163 pedigrees from diverse ethnic backgrounds and have evaluated them for mutations in the recently discovered BBS6 gene (MKKS) on chromosome 20 and for potential assignment of the disorder to any of the other known BBS loci in the human genome. Using a combination of mutational and haplotype analysis, we describe the spectrum of BBS6 alterations that are likely to be pathogenic; propose substantially reduced critical intervals for BBS2, BBS3, and BBS5; and present evidence for the existence of at least one more BBS locus. Our data also suggest that BBS6 is a minor contributor to the syndrome and that some BBS6 alleles may act in conjunction with mutations at other BBS loci to cause or modify the BBS phenotype.  (+info)

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (6/151)

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.  (+info)

09/15: Comparative genomics of a conserved chromosomal region associated with a complex human phenotype. (7/151)

Three genes that encode related immunoglobulin superfamily molecules have recently been mapped to human chromosome 15 in the region q22.3-q23 and to the syntenic region on mouse chromosome 9. These genes presumably derived from gene duplications, and they are highly similar to Deleted in Colorectal Cancer (DCC), which functions as an axon guidance molecule during development of the nervous system. To find out whether additional genes of this class were present in a chromosomal cluster, we produced a comparative physical map within the region of synteny between mouse chromosome 9 and human chromosome 15. This interval overlaps the critical region for the fourth genetic locus for Bardet-Biedl syndrome (BBS4) in humans. Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities. A detailed map of this locus will help to identify candidate genes for this disorder.  (+info)

Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography. (8/151)

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature. Definitive molecular diagnosis for BBS is not currently available and counseling of affected families is based on the 25% recurrence risk consistent with autosomal recessive inheritance. Our case presents the first successful use of second trimester targeted sonographic anatomy scanning to prospectively identify a fetus affected with BBS, and indicates that ultrasound can be of critical importance in providing precise as well as timely prenatal diagnosis for families at risk for this serious disorder.  (+info)

Authors: Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.. Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis ...
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the proteins shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein BBSome complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] ...
Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.
INTRODUCTION: Obesity is a consistent presenting feature of the Bardet-Biedl syndrome (BBS), a hereditary disorder caused by a single gene defect. This contrasts sharply with general obesity which, despite a strong hereditary component, has a multifactorial aetiology. For BBS, the phenotypic
Bardet-Biedl Syndrome [BBS2]: Features include retinitis pigmentosa, obesity, polydactyly, intellectual disability/developmental delay, renal problems, anosmia, genital abnormalities, and male infertility. Other affected organs include the heart, liver and digestive system. There is variable age of onset and severity of symptoms.. For detailed information about this disease visit : National Institutes of Health (NIH) ,. Carrier Frequency by Ethnicity , ...
TY - JOUR. T1 - Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. AU - Ross, Alison J.. AU - May-Simera, Helen. AU - Eichers, Erica R.. AU - Kai, Masatake. AU - Hill, Josephine. AU - Jagger, Daniel J.. AU - Leitch, Carmen C.. AU - Chapple, J. Paul. AU - Munro, Peter M.. AU - Fisher, Shannon. AU - Tan, Perciliz L.. AU - Phillips, Helen M.. AU - Leroux, Michel R.. AU - Henderson, Deborah J.. AU - Murdoch, Jennifer N.. AU - Copp, Andrew J.. AU - Eliot, Marie Madeleine. AU - Lupski, James R.. AU - Kemp, David T.. AU - Dollfus, Hélène. AU - Tada, Masazumi. AU - Katsanis, Elias Nicholas. AU - Forge, Andrew. AU - Beales, Philip L.. N1 - Funding Information: We thank P. Scambler, D. Savery, N. Greene, H. Omran, N. Guo and J. Nathans for their technical help and comments in preparing this manuscript. This study was supported by grants from the Wellcome Trust (A.J.R., J.H. and A.J.C.), Medical Research Council (H.M.-S., M.T. and J.N.M.), Birth Defects ...
Purpose: Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive inherited disorder with clinical features that include retinal degeneration, obesity and developmental anomalies. At least 17 BBS genes have been reported. Seven BBS proteins form a molecular complex known as the BBSome, and three additional BBS proteins form a second complex known as the BBS chaperone complex, which is required for BBSome assembly. Studies suggest that mutation of a novel centrosomal protein, CEP290, results in BBS and other ciliopathies. The purpose of the current study is to characterize physical and genetic interactions between CEP290 and other BBS genes, and determine whether these interactions likely contribute to BBS-like symptoms using mouse models.. Methods: We evaluated the physical interaction between CEP290 and other BBS proteins by immunoprecipitation and tested whether this interaction is required for the correct cocalization of CEP290 using immunofluorescence microscopy. To determine ...
Bardet-Biedl syndrome comprises several different diseases with a similar constellation of findings, including pigmentary retinopathy (with or without pigment deposits), obesity, polydactyly, hypogonadism, and cognitive disability. Patients with Bardet-Biedl syndrome typically demonstrate a severe but variable form of rod-cone dystrophy, usually sine pigmento, with a bulls-eye atrophic maculopathy (Fig 14-1). These disorders were previously classified as autosomal recessive, but molecular studies strongly suggest that many are multigenic, with 2 or even 3 different mutations contributing to the phenotype. Increasing evidence suggests that the primary functions of the proteins affected in Bardet-Biedl syndrome are to mediate and regulate microtubule-based intracellular transport processes.. ...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for approximately 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of
The cardinal features of BBS are truncal obesity, intellectual impairment, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. Each feature is discussed in detail below. The term truncal obesity refers to a condition where fat is disproportionately distributed onto the abdomen and chest rather than the arms and legs. Individuals can be described as having an apple-shape body type. Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS. Diabetes mellitus (specifically, type II diabetes, non-insulin dependent) has been estimated to affect up to 45% of patients with BBS. Weight management problems may further complicate problems with the heart and blood vessels seen in patients with BBS. The heart functions as a pump for the blood, moving the blood through the vessels that bring it throughout the body. The heart relies on valves that keep the flow moving in the forward direction. With age, ...
An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature.
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class=publication>Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href=http://www.nrbook.com/b/bookcpdf.php>Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Do You Have Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity? Join friendly people sharing true stories in the I Have Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microceph...
With the electrods placed at retina tissue the vision cortex of brain is stimulated.This is called bionic eye. First experiments started with 16 electrodes than the number of electrodes were increased to 60.There is a hope that if the number of electrods will be increased to 80 vision might get better either.. Except the system placed in the eye,with the help of a video camera put into the glasses images are taken and are moved with a cable to the electrods. It is reported that this camera system can only be used in hospitals,its not possible yet to use it outside. When the patient with bionic eye has to make rapid head movements the eye can perceive the new image only 10-15 minutes later.Briefly,the adaptation process takes too long.. 4- What type of vision can provide bionic eye? ...
Primary cilium dysfunction affects the development and homeostasis of many organs in Bardet-Biedl syndrome (BBS). We recently showed that seven highly conserved BBS proteins form a stable complex, the BBSome, that functions in membrane trafficking to and inside the primary cilium. We have now discov …
Misdiagnosis of Mental retardation - epileptic seizures - hypogonadism - hypogenitalism -microcephaly - obesity including hidden diseases, diagnosis mistakes, alternative diagnoses, differential diagnoses, and misdiagnosis.
Our comparative genomics-based predictions may be useful for identifying genes involved in human ciliopathies, including Bardet-Biedl Syndrome (BBS), since the C. elegans orthologs of known human BBS genes contain X-box motifs and are required for normal dye filling in C. elegans ciliated neurons.
A major focus of the lab is the study of the primary cilium, a once-obscure cellular organelle that has recently been re-discovered for its role in a number of signaling pathways (Hedgehog, Planar Cell Polarity, PDGF,..). Most fascinatingly, molecular defects in cilium biogenesis lead to a variety hereditary disorders (so-called ciliopathies) characterized by retinal degeneration, kidney cysts, obesity, polydactyly, randomization of left-right asymmetry, etc. Our goal is to characterize these ciliopathies at the molecular and cellular levels using state-of-the art proteomics and microscopy. Our approach has already proven successful in the case of Bardet-Biedl Syndrome (see figure) and led to the discovery of a protein complex involved in vesicular transport to the primary cilium. ,nonwikionly,,a href=http://www.openwetware.org,,img src=http://openwetware.org/images/9/96/02_JoinOpenWetWare.png border=0/,,/a,,/nonwikionly, ...
Bardet Biedl Syndrome (BBS) is a complex disorder caused by cilia, the hair-like structures in many cells, malfunction. People with BBS may have extra fingers and toes, kidney failure, learning or developmental differences, obesity which is due to never feeling full or sated, and a progressive type of retinitis pigmentosa that starts in early childhood. There are at least 20 different genes that can cause BBS. Because vision loss is progressive in this condition, children should be monitored closely to be sure their teachers and friends know what they are seeing and when they might need accommodations. There is a lot of research going on in the Drack Research lab and the WIVR into why people with BBS lose vision and how to slow, prevent or restore it.. Genereviews: Bardet-Biedl Syndrome ...
Next-day shipping cDNA ORF clones derived from Bbs1 Bardet-Biedl syndrome 1 (human) available at GenScript, starting from $99.00.
Researchers at the Johns Hopkins Medical Center in Baltimore, Md, experimented with both humans and animals and isolated the BBS4 protein, which has an indirect link to obesity.A genetic mutation in the BBS4 gene causes what is known as Bardet-Biedl syndrome?a syndrome that can cause obesity, learning disabilities, eye and kidney problems, and disruption in the bodys cell transport, which can result in cell death. Under normal circumstances, this protein transports molecules that guide the action of the cells internal transport system, which moves other proteins, cellular packages, and chromosomes. When the BBS4 gene is mutated, or not working properly, cell division stops and the cell dies. The way this particular protein affects obesity will require further study. ...
Cilia are antenna-like membrane-associated structures which play essential roles during development, and during the normal function of many cells throughout the body. Dysfunction of these organelles can lead to serious illnesses, involving deafness and blindness, as well as life-threatening complications such as kidney and liver disease, diabetes, respiratory problems, and obesity. These so-called ciliopathies are usually genetically inherited, and at present there are few, if any cures.. Following collaborations with Phil Beales (Institute of Child Health, UCL) on Bardet-Biedl Syndrome, and with Jan Marshall (Jackson Labs, USA) on Alström Syndrome, we are continuing to work in the field of human ciliary diseases. In collaboration with Colin Johnson (University of Leeds) we more recently characterized the role of the Meckel-Gruber Syndrome protein TMEM67 in the development of the cochlea.. In related public engagement projects I have worked with patient support groups such as Alström ...
Primary cilia, once considered vestigial organelles are now revealing themselves as crucial cellular components for cellular signalling and are capable of sensing their enivronment. A number of developmental pathways including Hedgehog and Wnt signalling require an intact cilium. Dysfunction of this signalling process can result in diseases of the retina, kidney, endocrine system, skeleton and nervous system. Many long described syndromes are now being ascribed to cilia pathogenetic lesions are are grouped as the ciliopathies. Many of these syndromes manifest cognitive impairment as well as disordered peripheral nervous system and sensory reception. We have been focussing on several of these diseaes and one in particular, Bardet-Biedl syndrome has been informing us of novel roles for the primary cilium. For example by generating animal models we have determined there are defects in olfactory responses, nociception, satiety (leading to gross obesity) and mental retardation. One of our key goals ...
MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from birth and is likely the result of both healthy parents passing on a defective gene, associated with MORM syndrome, to their offspring. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The term MORM is used to describe the characteristics associated with the disorder which include mental retardation, truncal obesity, retinal dystrophy, and micropenis. The disorder shares similar characteristics with Bardet-Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic ...
Katsanis N et al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.. ...
Retinitis pigmentosa (RP) is a disease that leads to degeneration of the rods and cones of the retina; it is one of the leading causes of inherited blindness.. Symptoms may appear at adolescence, but severe vision problems do not normally occur before early adulthood. In the early stages of the disease, people with RP experience loss of night vision and more difficulty seeing in low-light conditions. As the disease progresses, RP sufferers begin to lose peripheral vision and develop tunnel vision. In the most advanced stages, a person with RP may become completely blind.. Other forms of RP and related diseases include Usher syndrome, Lebers congenital amaurosis, rod-cone disease, and Bardet-Biedl syndrome, among others.. ...
Mutation in the Tripartite Motif Containing Protein 32 Gene & Obesity Symptom Checker: Possible causes include Bardet-Biedl Syndrome Type 11. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Keira Jones-McCarthy was born with a swollen abdomen, two additional fingers and bladder problems before being diagnosed with Bardet-Biedl Syndrome
In the clinic, fundoscopic examination of the eyes should be performed through dilated pupils as well as blood pressure measurement and urinalysis for glucose, protein and leukocytes. Baseline investigations should include ERG/VER, ECG, echocardiogram, ultrasound of the kidneys and urinary tract and either an IVP or DMSA/DPTA scan. The child should be evaluated by cardiology, ophthalmology, urology, nephrology, genetics, speech, endocrinology, and orthopedics. It is not possible to cure this condition, but regular follow-up for symptoms can improve quality of life ...
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.. [^] ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
BBS Technology, with its innovative and technological solutions, aims to support the management of organizations by using information-supported data, and to present the next generation technologies to the world market with a high share. ...
Free Online BBA BBS BCA Preparation Test and Practice Sets & Study Materials Includes Questions on C/C++,Operating Systems,Computer Science & Basic Tests, MS Words 2007 Featured Tests Latest Tests - Page 1
Im a little perturbed that until this moment, Id never realised that the endings of The Godfather III and Watership Down were ...
This application note describes how you can use the AcqKnowledge Media and Script capabilities together to facilitate the placement of markers in the
小弟昨晚在夢中聽到 位在台北火車站旁土地銀行的總行,有位職員確診!! 雖說在這時期有人確診已經不是什麼大新聞,但屌的貴銀行沒有甚麼補救措施,要求大家 照樣準時上下班,上千名的員工在兩棟大樓內集體煉蠱,也沒進行普篩。員工每個人 人心惶惶,也不知道自己有沒有中標。重點是這些員工還有很多人是搭乘大眾運輸工具上 下班,也不知道送出了多少病毒出去。 三級到現在沒有完全實施AB分流,口頭上說有分前後棟,但好笑的是你又怎知前後棟哪些 員工下了班有沒有連結。 只能說確診的員工也蠻衰的,也不知道從何處來中獎。但土銀處理方式也蠻讓人心寒的, 一家公股有人確診卻要求全體員工照樣上下班。 有沒有台灣金融業就是最大破口的八卦 ...
Day 14 I just wanted to pop in real quick because Im so ****ing happy!!! Im up 9 pounds since the start of this cycle! Weighed in 164, started at
예전에는 BBS나 초기 채팅 홈페이지에서 이런 역활이 가능했던 것 같은데 어느순간인가 랜덤 채팅이나, 채팅은 죄다 생수!를 외치고만 앉아있다 보니 저런 인간적인, 그리고 철학적인 이야기를 할 만한 공간이..
推 JouEriko: 不是記仇,是美國就一直沒在管台灣死活不是現在,以前就是如此。41F 118.171.181.101 台灣 05/27 17:10 ...
Whether it looks like a random plan or not, understand that those people had chosen, in their life plan, to undergo the situation. 无论它看着像一个随机的计划或者不是,理解这些人的选择,在他们的生命计划中,状况的经历。 bbs.awaker.net ...
Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Eyes: Pigmentary retinopathy, poor visual acuity, low vision, and/or blindness caused by an impaired photoreceptor transport mechanism in the retina. Nose: Loss of, or reduced sense of, smell (anosmia). Some patients claim extra-sensitive sense of smell. Hand and foot: Polydactyly (extra digits) or syndactyly (webbing of fingers and toes). Cardiovascular system: Hypertrophy of interventricular septum and left ventricle and dilated cardiomyopathy. Gastrointestinal system: Fibrosis. Urogenital system: Hypogonadism, renal failure, ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class=publication>Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href=http://www.nrbook.com/b/bookcpdf.php>Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
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Many syndromes feature pigmentary retinal changes consistent with RP. In fact, some of the genes known to be mutated in these syndromes can be mutated in patients with isolated RP. For example, BBS3 and BBS9 are linked to Bardet-Biedl syndrome (BBS) which is characterized by RP, obesity, polydactyly, renal malformation, and hypogenitalism, but were also found to be mutated in patients with nonsyndromic RP. Other syndromes known to manifest with RP or RP-like lesions include Usher syndrome, Cohen syndrome, Cockayne syndrome, Refsum syndrome, neuronal ceroid lipofuscinosis, and abetalipoproteinemia. ...
Symptoms of the following disorders can be similar to those of Froelich syndrome. Comparisons may be useful for a differential diagnosis:. Prader Willi syndrome is a complex disorder affecting many systems in the body. It is diagnosed more often in males born after a prolonged, delayed birth often in the breech position and is characterized by muscular weakness and failure to thrive during infancy. As the child grows there is a decrease in the function of the testes or ovaries (hypogonadism), short stature, and impaired intellectual capabilities. The need to eat an extraordinary amount of food (hyperphagia) usually develops between 1 and 3 years of age. If left uncontrolled, the obesity of Prader Willi syndrome can lead to life- threatening heart and lung complications. (For more information on this disorder, choose Prader Willi as your search term in the Rare Disease Database.). Bardet-Biedl syndrome is a rare disorder affecting many systems in the body. It is inherited as an autosomal ...
Compund heterozygous mutations in PNPLA6 (19p13.2), coding for neuropathy target esterase, have been found in several patients presumed to have this condition. Autosomal recessive inheritance has been proposed on the basis of a single family in which an affected brother and sister were born to first cousin parents. The relationship of this disorder to that found in two cousins, offspring of consanguineous matings, described as cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition (204110 ) is unknown. They were described as having visual impairment from birth and profound photophobia. Fundus changes were minimal with a bulls eye pattern of pigment changes in the macula described as indicative of a rod-cone congenital amaurosis. ERG responses were unrecordable. These individuals apparently did not have other somatic, psychomotor or neurologic deficits.. Mutations in PNPLA6 occur in other conditions including a form of Bardet-Biedl Syndrome ...
Keywords: Inherited eye disease, Bardet-Biedl Syndrome, X-linked retinitis pigmentosa (RP), Incontinentia pigmenta, Familial exudative vitreoretinopathy (FEVR) ...
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011 ...
With the electrods placed at retina tissue the vision cortex of brain is stimulated.This is called bionic eye. First experiments started with 16 electrodes than the number of electrodes were increased to 60.There is a hope that if the number of electrods will be increased to 80 vision might get better either.. Except the system placed in the eye,with the help of a video camera put into the glasses images are taken and are moved with a cable to the electrods. It is reported that this camera system can only be used in hospitals,its not possible yet to use it outside. When the patient with bionic eye has to make rapid head movements the eye can perceive the new image only 10-15 minutes later.Briefly,the adaptation process takes too long.. 4- What type of vision can provide bionic eye? ...
Eesti Teadusinfosüsteem koondab informatsiooni teadus- ja arendusasutuste, teadlaste, teadusprojektide ning erinevate teadustegevuste tulemuste kohta.
Perception of what is occurring around us relies extensively on our senses, such as vision, smell and touch. Among these, vision attracts remarkable attention. The abilit..
Virology Highlights features highlighted articles published in Virology, with posts summarizing the research in the authors words.
A mutation in the tub gene causes maturity-onset obesity, insulin resistance, and sensory deficits. In contrast to the rapid juvenile-onset weight gain seen in diabetes (db) and obese (ob) mice, obesity in tubby mice develops gradually, and strongly resembles the late-onset obesity seen in the human population. Excessive deposition of adipose tissue eventually leads to a twofold increase of body weight. Tubby mice also suffer retinal degeneration and neurosensory hearing loss. The tripartite character of the tubby phenotype shows striking similarity to human obesity syndromes, such as Alstrom and Bardet-Biedl. Here we report the identification of a G --| T transversion in a candidate gene that abolishes a donor splice site in the 3 coding region and results in a larger transcript containing the unspliced intron. This alteration is predicted to replace the 44-carboxyterminal amino acids with a 20-amino-acid sequence not found in the wide-type protein. Additionally, a second, prematurely
Intraflagellar transport (IFT) is essential for assembly and maintenance of cilia and flagella as well as ciliary motility and signaling. IFT is mediated by multisubunit complexes, including IFT-A, IFT-B, and the BBSome, in concert with kinesin and dynein motors. Under high salt conditions, purified IFT-B complex dissociates into a core subcomplex composed of at least nine subunits and at least five peripherally associated proteins. Using the visible immunoprecipitation assay, which we recently developed as a convenient protein-protein interaction assay, we determined the overall architecture of the IFT-B complex, which can be divided into core and peripheral subcomplexes composed of 10 and 6 subunits, respectively ...
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Bardet Biedl Syndrome (BBS) is an inherited recessive ciliopathy affecting Hungarian Puli. The disease is characterised by retinopathy (disease of the eye that results in vision impairment), infertility and obesity. .
This sequence change replaces serine with glycine at codon 332 of the BBS2 protein (p.Ser332Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance ...
Youve done it, youve reached the top. Hopefully meaningful discussion has led you to the top at The Trek BBS. Either way youre here now, so join the Admirals lounge.. ...
Youve done it, youve reached the top. Hopefully meaningful discussion has led you to the top at The Trek BBS. Either way youre here now, so join the Admirals lounge.. ...
Buy our Recombinant Human BBS10 protein. Ab164093 is a full length protein produced in Wheat germ and has been validated in WB, ELISA. Abcam provides free…
The BBS02 has been solid since I put it back together. Theres a bit of vibration which is due to my non-ideal chainline ( really need to drop to a lekkie to get the chainline going right ). In the interim, Ive built a non powered rigid 29er out of spare parts and someone elses failed build project. Paid AUD $300 for a mostly complete 29er bike with deore 2x10 ( all new ) but they couldnt get their shit working right. Built it up and am cruising the streets on that if Im not on the ebike. Turns out the guy used the 1mm spacer that comes with a 10 speed setup ( for fitting to a 9sp hub)... which you dont use on a hub designed for 10 speed... the 11t was slipping like a madman until I removed it.... Someone elses non google-fu is my benefit. The new rat bike came with a Mosso M5 fork which is a horrible peice of shit... even for a rigid fork... I have a carbon fork on the way while waiting for a deal on a good suspension fork. The Mosso M5 flexes like a bitch... do not buy. Ive done a day of ...
Pro life: Well what would you expect from a generally progressive series? Oddly though, ST in general is pretty critical of most biological...
All this poll shows is that a large percentage of people dont listen to the questions they are asked. Thats a basic problem of streets surveys. You...
Nostalgic for the pre-Internet 80s? A former teen BBS-junkie attempts to archive the evanescent history of digital culture on the Web. By Joe Nickell.
Bardet-Biedl syndrome, or Fraser syndrome. One out of every 5,000 women have this abnormality. Symptoms and signs in the ... Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that can affect various parts of the body. Parts of the ... "Bardet-Biedl syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ... There is no cure available for individuals with Bardet-Biedl Syndrome; however, there are methods of treatment for some of the ...
The BBSome is a complex of seven Bardet-Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. In addition ... June 2010). "The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia". Cell. 141 ... Forsythe, Elizabeth; Beales, Philip L. (January 2013). "Bardet-Biedl syndrome". European Journal of Human Genetics. 21 (1): 8- ... "Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)". Human Molecular Genetics. 25 (11): 2283-2294. doi:10.1093/hmg/ddw096. ...
BBS2 Bardet-Biedl syndrome 3; 209900; ARL6 Bardet-Biedl syndrome 4; 209900; BBS4 Bardet-Biedl syndrome 5; 209900; BBS5 Bardet- ... Biedl syndrome 6; 209900; MKKS Bardet-Biedl syndrome 7; 209900; BBS7 Bardet-Biedl syndrome 8; 209900; TTC8 Bardet-Biedl ... PTEN Bardet-Biedl syndrome 1; 209900; BBS1 Bardet-Biedl syndrome 10; 209900; BBS10 Bardet-Biedl syndrome 11; 209900; TRIM32 ... Bardet-Biedl syndrome 12; 209900; BBS12 Bardet-Biedl syndrome 13; 209900; MKS1 Bardet-Biedl syndrome 14; 209900; CEP290 Bardet- ...
Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. The expression of the Bardet-Biedl syndrome 9 ... "Entrez Gene: Bardet-Biedl syndrome 9". Human BBS9 genome location and BBS9 gene details page in the UCSC Genome Browser. ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs9 protein, human at the US National Library of Medicine Medical ... Mutations in this gene are associated with the Bardet-Biedl syndrome. GRCm38: Ensembl release 89: ENSMUSG00000035919 - Ensembl ...
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet-Biedl syndrome 8 is a protein that in humans is encoded by the ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome a TTC8 protein, human at the US National Library of Medicine Medical ... 2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic ... Mutations in the TTC8 gene is one of 14 genes identified as causal for Bardet-Biedl syndrome. GRCh38: Ensembl release 89: ...
Bardet-Biedl syndrome 10, also known as BBS10 is a human gene. The Bardet-Biedl syndrome 10 protein has distant sequence ... 2006). "[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]" (PDF). Med Sci (Paris). 22 (11): 901-4. doi:10.1051/ ... "Entrez Gene: Bardet-Biedl syndrome 10". Maruyama, K; Sugano, S (28 January 1994). "Oligo-capping: a simple method to replace ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs10 protein, human at the US National Library of Medicine Medical ...
Desai A, Jha O, Iyer V, Dada R, Kumar R, Tandon N (July 2009). "Reversible hypogonadism in Bardet-Biedl syndrome". Fertil ... Desai A, Jha O, Iyer V, Dada R, Kumar R, Tandon N (July 2009). "Reversible hypogonadism in Bardet-Biedl syndrome". Fertil ... "Predicting adult metabolic syndrome from childhood body mass index: follow-up of the New Delhi birth cohort". Arch Dis Child. ... "Predicting adult metabolic syndrome from childhood body mass index: follow-up of the New Delhi birth cohort". Arch Dis Child. ...
Bardet-Biedl syndrome (BBS): TRIM32 is one of 14 genes known to be linked with BBS. Specifically a mutation (P130S) in the B- ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Albor A, El-Hizawi S, Horn EJ, et al. (2006). "The interaction of Piasy ... Hamosh, Ada (2012-11-02). "OMIM entry #209900 Bardet-Biedl Syndrome; BBS". Online Mendelian Inheritance in Man. McKusick- ... as a Bardet-Biedl syndrome gene (BBS11)". Proc Natl Acad Sci U S A. 103 (16): 6287-92. Bibcode:2006PNAS..103.6287C. doi:10.1073 ...
"Entrez Gene: BBS1 Bardet-Biedl syndrome 1". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl syndrome Human BBS1 genome location ... 2002). "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome". ... Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, ... Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. As of 2008[update ...
Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains ... "Entrez Gene: BBS4 Bardet-Biedl syndrome 4". Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, ... Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS4 genome location and BBS4 gene details page in the UCSC Genome ...
"Entrez Gene: BBS5 Bardet-Biedl syndrome 5". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl syndrome Hillier LD, Lennon G, Becker ... This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome ... Bardet-Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene. ... Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (Mar 1999). "Genetic heterogeneity of Bardet-Biedl syndrome ...
Two such examples are Bardet-Biedl syndrome . Rarely, blindness is caused by the intake of certain chemicals. A well-known ... Childhood blindness can be caused by conditions related to pregnancy, such as congenital rubella syndrome and retinopathy of ... and genetically transmitted syndromes. Cataracts are the leading cause of child and adult blindness that doubles in prevalence ... congenital rubella syndrome, vitamin A deficiency, or meningitis. If left untreated during childhood, amblyopia is currently ...
It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). GRCh38: Ensembl release 89: ... "Dissection of epistasis in oligogenic Bardet-Biedl syndrome". Nature. 439 (7074): 326-30. Bibcode:2006Natur.439..326B. doi: ...
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two ... "Entrez Gene: MKKS McKusick-Kaufman syndrome". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl syndrome GeneReviews/NIH/NCBI/UW ... 2002). "Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients". Hum. ... McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene. This gene ...
Bardet-Biedl syndrome (BBS) provides one such example. BBS is a genetically-heterogeneous disorder with at least 6 known ... "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science. 293 (5538): 2256-9. doi:10.1126/ ...
Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene. Mutations in this gene are associated with the ... 2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic ... Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (March 2003). "Identification of a novel Bardet-Biedl syndrome ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs7 protein, human at the US National Library of Medicine Medical ...
In some cases, it is associated with Bardet-Biedl Syndrome. If it occurs in prepubertal girls, it may show up as abdominal ... "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). ...
Bardet-Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene. Mutations in this gene are associated with ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs12 protein, human at the US National Library of Medicine Medical ... 2009). "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic ... highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome". Am. J. Hum ...
"Entrez Gene: BBS2 Bardet-Biedl syndrome 2". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS2 genome location ... Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal ... Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. This gene encodes a protein of unknown ... 1994). "Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity". Nat. Genet. 5 ( ...
... including Bardet-Biedl syndrome, orofaciodigital syndrome, Joubert syndrome, cone-rod dystrophy, Meckel syndrome, and ... Basal body dysfunction is a likely cause of pleiotropic BardetBiedl syndrome. Nature, 425 (2003), pp. 628-633 M.I. Ferrante, Z ... MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet., 38 (2006 ... Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin‐4 interactor, cause Joubert syndrome. Nat. Genet ...
"Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex". The Journal of Biological Chemistry. 294 (44): ...
Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome, ... In another genetic disorder called Bardet-Biedl syndrome (BBS), the mutant gene products are the components in the basal body ... "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nature Genetics. 40 (4): 443 ... a combination of findings is known as Kartagener syndrome), and situs ambiguus (also known as Heterotaxy syndrome). These left- ...
Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). Model organisms have been used in the study of ... "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome". Nature Genetics. 36 ( ... "Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)". ...
"Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex". The Journal of Biological Chemistry. 294 (44): ...
Mutations in the MKS1 are associated with Meckel syndrome or Bardet-Biedl syndrome. Model organisms have been used in the study ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome (Articles with short description, Short description matches Wikidata, ... "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nat. Genet. 40 (4): 443-8. ... Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene. The MKS1 protein along with ...
He was born with Bardet-Biedl syndrome, which causes obesity and failing vision. Dolores and John's marriage ended in 1988. Her ...
... forms a complex at the centrosome with disrupted-in-schizophrenia 1 (DISC1) and Bardet-Biedl syndrome 4 protein (BBS4), ... 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome". Nature. 425 (6958): 628-33. Bibcode: ... 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and ...
"The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan". PLOS ONE. 10 (9): e0136317. Bibcode: ... Li-Fraumeni syndrome, Loeys-Dietz syndrome, Osteochondromas (bone tumor), Nevoid basal cell carcinoma syndrome, and ... bloom syndrome, familial cold autoinflammatory syndrome, and dyskeratosis congenita. The Shapiro-Senapathy algorithm has been ... Type I Bartter syndrome (BS) is caused by mutations in the gene SLC12A1. S&S algorithm helped in disclosing the presence of two ...
... most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome". Nature Genetics. 31 (4): 435-438. doi: ... "Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping ... "Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity". Nature Genetics. 5 (4 ... as a Bardet-Biedl syndrome gene (BBS11)". Proceedings of the National Academy of Sciences. 103 (16): 6287-6292. Bibcode: ...
Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1 June 1999). "New criteria for improved diagnosis of Bardet-Biedl syndrome ... or more pronounced than cone dystrophy-has been identified as a relatively common characteristic of Bardet-Biedl Syndrome. At ...
Bardet-Biedl syndrome, cone dystrophy, cone-rod dystrophy, rod-cone dystrophy, achromatopsia, Refsum disease, and other rare ... Leber congenital amaurosis Macular degeneration Usher syndrome Retinitis pigmentosa Stargardt disease [1] The National Alliance ... Usher syndrome, and age-related macular degeneration. Valproic acid, a drug that is FDA-approved to treat epilepsy, has shown ... Usher syndrome and the entire spectrum of retinal diseases, and also provides assistance to the management of clinical trials ...
Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some ... Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and ... to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes ...
2000). "Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1)". Gene. 240 (1 ...
This condition has since become known as the Bardet-Biedl syndrome. Georges Bardet was the uncle of Jean Bardet, the founder of ... Bardet, Georges (1920). Sur un syndrome d'obésité infantile avec polydactylie et rétinite pigmentaire (contribution à l'étude ... Two years later, Hungarian physician Arthur Biedl described the same symptoms in two sisters, separate from Bardet's findings. ... Georges, Louis, Bardet (1885-1966) was a French physician who is known for first describing a rare genetic disease. In his ...
... nephronophthisis and Bardet-Biedl syndrome. Proteins employed in the cilia are targeted there when they bear specific entry ... Revenkova, Ekaterina; Liu, Qing; Gusella, G. Luca; Iomini, Carlo (1 May 2018). "The Joubert syndrome protein ARL13B binds ... "Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E". Journal of Cell ... "Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a C. ...
Mutations in the LZTFL1 gene are associated with Bardet-Biedl syndrome, and the gene also acts as a tumor suppressor through ... This protein regulates protein trafficking to the ciliary membrane through interaction with the Bardet-Biedl syndrome (BBS) ... in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly". Journal of Medical Genetics. 49 (5): ...
"Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome". Nat. Genet. 36 (9): ...
Specific rare autosomal recessive diseases are high in Arabic countries like Bardet Biedl syndrome, Meckel syndrome, congenital ... Teebi type of hypertelorism (1987) •• Teebi Shaltout syndrome (1989) •• Al Gazali syndrome (1994) •• Megarbane syndrome (2001) ... Yemenite deaf-blind hypopigmentation syndrome (1990) •• Nablus mask-like facial syndrome (2000) •• Jerash type of the distal ... Bare lymphocyte syndrome high in western Arabic block Morocco, type II limb-girdle muscular dystrophy, type 2C in Libya, ...
Bardet-Biedl syndrome, polycystic kidney and liver disease, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal ... Senior-Loken syndrome. The diagnosis of nephronophthisis can be obtained via a kidney ultrasound, family history and clinical ... Saldino-Mainzer syndrome). Nephronophthisis is characterized by fibrosis and the formation of cysts at the cortico-medullary ...
According to the Gene Ontology, the following human proteins are associated with the PCM [1]: BBS4, Bardet-Biedl syndrome 4 ...
... syndrome Banti's syndrome Barakat syndrome Barakat-Perenthaler syndrome Bardet-Biedl syndrome Bare lymphocyte syndrome type II ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Senior-Løken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome. Adams, M.; Smith, U. M.; Logan, C. V ... Meckel-Gruber syndrome and Bardet-Biedl syndrome, patients who carry mutations in genes associated with both diseases "have ... and Functional Genetics of Bardet-Biedl Syndrome, in Genetics of Obesity Syndromes. Oxford University Press. p. 177. ISBN 978-0 ... 2007). "Loss of Bardet-Biedl syndrome proteins causes defects in peripheral sensory innervation and function". Proc. Natl. Acad ...
Ellis-van Creveld syndrome, McKusick-Kaufman syndrome, Down syndrome, Bardet-Biedl syndrome, Smith-Lemli-Opitz syndrome. Type ... Bardet-Biedl syndrome, Meckel syndrome, Pallister-Hall syndrome, Legius syndrome, Holt-Oram syndrome. Also, central polydactyly ... Other syndromes including polydactyly include acrocallosal syndrome, basal cell nevus syndrome, Biemond syndrome, ectrodactyly- ... Kumar S, Mahajan BB, Mittal J (2012). "Bardet-Biedl syndrome: a rare case report from North India". Indian J Dermatol Venereol ...
... which are the key elements of the Bardet-Biedl syndrome. Laurence-Moon syndrome is usually considered a separate entity. ... and Functional Genetics of Bardet-Biedl Syndrome, in Genetics of Obesity Syndromes. Oxford University Press. doi:10.1093/med/ ... Laurence-Moon-Biedl-Bardet syndrome is no longer considered as valid terms in that patients of Laurence and Moon had paraplegia ... Sigmoid volvulus in bardet-biedl syndrome: serendipity or a new association? Int Surg J 2019;6:1388-91. Badano JL, Mitsuma N, ...
Bardet-Biedl syndrome MOMO syndrome Leptin receptor mutations Congenital leptin deficiency Melanocortin receptor mutations In ... Cushing's syndrome (a condition in which the body contains excess amounts of cortisol) may also influence childhood obesity. ... The activity of the cortisol and insulin can possibly activate Cushing's syndrome. Hypothyroidism is a hormonal cause of ... Prader-Willi syndrome with an incidence between 1 in 12,000 and 1 in 15,000 live births is characterized by hyperphagia and ...
Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, and some forms of retinal ... Meckel-Gruber syndrome is named for Johann Meckel and Georg Gruber. Meckel-Gruber syndrome (MKS) is an autosomal recessive ... This syndrome is a Finnish heritage disease. Its frequency is much higher in Finland, where the incidence is as high as 1.1 per ... Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous ...
"The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell ... GeneReviews/NIH/NCBI/UW entry on Perry syndrome v t e (Articles with short description, Short description matches Wikidata, ... genomic structure and evaluation as a candidate for Alström syndrome". Genomics. 53 (3): 359-64. doi:10.1006/geno.1998.5542. ...
Bardet Biedl syndrome caused by mutation in SCAPER A novel neurological disease caused by SEC31A mutation, affecting ... causing Bardet-Biedl syndrome". European Journal of Human Genetics. 27 (6): 928-940. doi:10.1038/s41431-019-0347-z. ISSN 1476- ... Gout caused by aberrant D-lactate dehydrogenase Birk - Landau - Perez syndrome, a novel cerebro-renal syndrome caused by ... genomic imprinting mental retardation syndrome due to KCN9 mutation. Birk - Flusser syndrome: dysmorphic mental retardation due ...
... syndrome Bardet-Biedl syndrome Barth syndrome Basal-cell nevus syndrome Beckwith-Wiedemann syndrome Benjamin syndrome Bladder ... syndrome Jacobsen syndrome Katz syndrome Klinefelter syndrome Kabuki syndrome Kyphosis Larsen syndrome Laurence-Moon syndrome ... syndrome Proteus syndrome Prune belly syndrome Radial aplasia Rett syndrome Robinow syndrome Rubinstein-Taybi syndrome Saethre- ... Triple-X syndrome Trisomy 13 Trisomy 9 Turner syndrome Umbilical hernia Usher syndrome Waardenburg syndrome Werner syndrome ...
The disorder shares similar characteristics with Bardet-Biedl syndrome and Cohen syndrome, both of which are autosomal ... Both the life span and fertility of individuals with MORM syndrome is unclear . MORM syndrome is associated with the gene ... The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping ... MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The disorder is not ...
Prader-Willi syndrome Fragile X syndrome Börjeson-Forssman-Lehmann syndrome Bardet-Biedl syndrome Harakalova, Magdalena; ... However, there is some speculation that this syndrome is in the same spectrum as the Cornelia de Lange syndrome. The most ... Eventually, this disorder was ruled distinct from a syndrome presented by Prader and Willi (Prader-Willi syndrome) because of ... Atlas of X-Linked Intellectual Disability Syndromes. OUP USA. ISBN 9780199811793. "Börjeson-Forssman-Lehman Syndrome - NORD ( ...
Bardet-Biedl syndrome is a disorder that affects many parts of the body. Explore symptoms, inheritance, genetics of this ... medlineplus.gov/genetics/condition/bardet-biedl-syndrome/ Bardet-Biedl syndrome. ... Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among ... Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern. , which means both copies of a BBS gene in each ...
Bardet-Biedl Syndrome, adding to its approval for other rare diseases causing obesity. ... Cite this: FDA Approves Setmelanotide for Obesity in Bardet-Biedl Syndrome - Medscape - Jun 17, 2022. ... for chronic weight management in adults and pediatric patients age 6 and older with obesity due to Bardet-Biedl Syndrome (BBS). ... Serious and fatal adverse reactions including "gasping syndrome" can occur in neonates and low-birth-weight infants treated ...
... which are the key elements of the Bardet-Biedl syndrome. Laurence-Moon syndrome is usually considered a separate entity. ... and Functional Genetics of Bardet-Biedl Syndrome, in Genetics of Obesity Syndromes. Oxford University Press. doi:10.1093/med/ ... Laurence-Moon-Biedl-Bardet syndrome is no longer considered as valid terms in that patients of Laurence and Moon had paraplegia ... Sigmoid volvulus in bardet-biedl syndrome: serendipity or a new association? Int Surg J 2019;6:1388-91. Badano JL, Mitsuma N, ...
Bardet-Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post-axial ... Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous Nat Genet. 1994 May;7(1):108- ... Bardet-Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post-axial ...
Toward Early Detection of the Pathological Social Withdrawal Syndrome Known as Hikikomori. ... Toward Early Detection of the Pathological Social Withdrawal Syndrome Known as Hikikomori. ...
Editor-Fig 1 in the paper by Bealeset al 1 shows portraits of six patients with the Bardet-Biedl syndrome (BBS). Number 4, the ... 1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437-446. ... 1982) Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 100:285-288. ... 1996) Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. ...
Bardet-Biedl syndrome 4 is the key protein to control cilia formation. In this study, bioinformatics method was used to screen ... Biedl syndrome 4 were evaluated by R package. Finally, the correlation between Bardet-Biedl syndrome 4 and clinicopathological ... Bardet-Biedl Syndrome 4 in Early Diagnosis and Prognosis of Breast Cancer. Author(s): H. Zhang, B. Suo, Xue Pu Sun, Ying-Xuan ... Bardet-Biedl syndrome 4 is the key protein to control cilia formation. In this study, bioinformatics method was used to screen ...
Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet- ... Biedl syndrome 6 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bardet-Biedl syndrome 10 Bardet-Biedl ... Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 ... ... Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome 20 Bardet-Biedl syndrome 21 Bardet-Biedl syndrome 22 ...
Bardet-Biedl Syndrome Treatment. Currently, there is no cure for Bardet-Biedl syndrome. Treatment generally focuses on the ... How many companies are developing Bardet-Biedl Syndrome drugs?. *How many Bardet-Biedl Syndrome drugs are developed by each ... Bardet-Biedl Syndrome Pipeline, Emerging therapies and Drugs by DelveInsight. Posted on January 29, 2021. by admin. ... Bardet-Biedl Syndrome Market. Media Contact. Company Name: DelveInsight Business Research LLP. Contact Person: Yash Bhardwaj. ...
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.. Authors: Priya, Sathya. Nampoothiri, ... Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among ... Priya Sathya, Nampoothiri Sheela, Sen Parveen, Sripriya S. Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and ... Bardet-Biedl syndrome. Bardet-Biedl syndrome genes. ciliopathy. Indian population. Issue Date: Sep-2016. ...
Bardet-Biedl syndrome, and. *Prader-Willi syndrome.. However, genes dont always predict health. Genetics may affect weight in ...
This corresponds to the extensive analysis of 12 BBS genes within a cohort of 174 families. BBS mutations were found in 134 of them, reporting 89 mutations of which 28 are novel mutations. The multiple alignment can be viewed using the Jalview applet by clicking on "Start Jalview" and then saved under many different formats ...
Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or ... Bardet-Biedl syndrome. * Cohen syndrome. * Albright hereditary osteodystrophy. * Maternal uniparental disomy of chromosome 14 ... Endocrine and metabolic aspects of Prader-willi syndrome. Greenswag LR, Alexander RC, eds. Management of Prader-willi Syndrome ... encoded search term (Prader-Willi Syndrome) and Prader-Willi Syndrome What to Read Next on Medscape ...
title = "Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis",. abstract = "Bardet-Biedl syndrome (BBS) ... N2 - Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder associated with marked obesity. Research in rare forms of ... AB - Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder associated with marked obesity. Research in rare forms of ... Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder associated with marked obesity. Research in rare forms of ...
PubMed is a searchable database of medical literature and lists journal articles that discuss Bardet-Biedl syndrome 4. Click on ...
PubMed is a searchable database of medical literature and lists journal articles that discuss Bardet-Biedl syndrome 2. Click on ...
Read this chapter of Syndromes: Rapid Recognition and Perioperative Implications online now, exclusively on ... Biedl Syndrome. Often incorrectly called (and confused with) Laurence-Moon-Bardet-Biedl Syndrome, which first should be called ... "Bardet-Biedl Syndrome." Syndromes: Rapid Recognition and Perioperative Implications Bissonnette B, Luginbuehl I, Marciniak B, ... Several types of Bardet-Biedl syndrome (BBS) have been identified. BBS-1 is linked to 11q13 and BBS-2 maps to 16q21, whereas ...
Bardet Biedl Kitchen Facebook page. Bardet Biedl Kitchen is a place to share your healthy recipes, seek nutrition advice, and ... Families of Bardet-Biedl Syndrome Facebook page. If you have a family member with BBS, please consider joining this page. You ... I am looking forward to connecting with families just like mine to help them navigate the journey that is Bardet Biedl Syndrome ... Try them, share them, and tell others about your favorites on the BBS Adults, Families of BBS, and Bardet Biedl Kitchen ...
Pathology: Bardet-Biedl syndrome *209900 OMIM record - By selecting the cell line name, you will receive the detailed ...
... Author: Volz, Ann-Kathrin; Frei, Alina ... Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles. DSpace Repository. Login ...
... manage your Bardet-Biedl Syndrome online with a Lybrate doctor today ...
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. Ital. J. Pediatr. 2019 Jun 13;45(1). ... Mutation profile of BBS genes in patients with Bardet-Biedl syndrome : an Italian study. In: Ital. J. Pediatr. 2019 ; Vol. 45, ... BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic ... N2 - BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex ...
Carrying mutations in genes besides those typically linked to Bardet-Biedl syndrome likely contributes to the severity of the ... Carrying Multiple Mutations Linked to Severity of Bardet-Biedl Syndrome, Case Report Suggests. by Iqra Mumal, MSc , November 26 ... androgen receptor, Bardet-Biedl syndrome, BBS10, case report, gene mutations, PDE6B, retinitis pigmentosa ... The study, "Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome," was published in the journal ...
BBS7 - Bardet-Biedl syndrome 7. *Synonym(s) : BBS2L1, FLJ10715. *Previous symbols and names : _ ...
Bardet-Biedl syndrome. The scientists say that almost all cells in the body have the ability to grow one or more cilia. For the ...
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. ... A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome ...
Leroux MR (2007) Role of chaperonin-like proteins in Bardet-Biedl syndrome. Biomedical & Life Sciences Collection, Henry ... Blacque OE and Leroux MR (2006) Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport Cell. Mol. Life ... The Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt ... Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat. Genet. 37, 1135-1140. ...
Name: Bardet-Biedl syndrome 7 (human). Synonyms: 8430406N16Rik. Type: Gene. Species: Mus musculus (mouse) ...
  • Obesity is another characteristic feature of Bardet-Biedl syndrome. (medlineplus.gov)
  • The US Food and Drug Administration (FDA) has approved a supplemental indication for setmelanotide (Imcivree, Rhythm Pharmaceuticals) injection for chronic weight management in adults and pediatric patients age 6 and older with obesity due to Bardet-Biedl Syndrome (BBS). (medscape.com)
  • Cite this: FDA Approves Setmelanotide for Obesity in Bardet-Biedl Syndrome - Medscape - Jun 17, 2022. (medscape.com)
  • Laurence-Moon-Biedl-Bardet syndrome is no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly or obesity, which are the key elements of the Bardet-Biedl syndrome. (wikipedia.org)
  • Bardet-Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post-axial polydactylia, obesity and pigmentary retinopathy. (nih.gov)
  • A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (zfin.org)
  • Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder associated with marked obesity. (bgu.ac.il)
  • The most common associations of RP with general health (so called "systemic") problems causing these more complex syndromes are hearing loss and obesity, and are reviewed under the "Related Syndromes" section of this review. (rarediseases.org)
  • Alstrom Syndrome is a rare genetic disorder that can result in infant cardiomyopathy and later deafness, obesity, and diabetes (Pediatric Ophthalmology Education Center, August 26, 2016). (prcvi.org)
  • Led by Bart Henderson, President and Founder, and Keith Gottesdiener, CEO, Rhythm plans to initiate Phase 3 registration studies for both POMC and LEPR deficiency obesity, along with Phase 2 proof-of-concept clinical studies for Bardet-Biedl syndrome, Alström syndrome, and POMC heterozygous deficiency obesity during 2017. (finsmes.com)
  • The tripartite character of the tubby phenotype is highly similar to human obesity syndromes, such as Alstrom and Bardet-Biedl. (embl.de)
  • The Company is currently evaluating the efficacy and safety of setmelanotide for the treatment of obesity and hyperphagia in an ongoing pivotal phase 3 trial in patients with Bardet Biedl syndrome (BBS) or Alström syndrome. (empr.com)
  • Bardet Beidl Syndrome is characterized by rod cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypo-gonadotrophic hypogonadism, complex female genitourinary malformations and renal abnormalities. (ijcrr.com)
  • Bardet-Biedl most often combines obesity, vision problems, finger abnormalities, and in some cases kidney and genital abnormalities. (bbs-foundation.org)
  • Ghrelin, a 28-amino acid peptide, produced in the stomach, is potentially the hormone responsible for causing obesity in individuals with Prader-Willi syndrome. (medscape.com)
  • Morbidity and mortality in Prader-Willi syndrome are related to life-threatening morbid obesity and its associated comorbidities. (medscape.com)
  • Bardet-Biedl syndrome is a genetic condition characterized with syndromic central obesity. (medscape.com)
  • The company's lead product candidate is IMCIVREE, a potent melanocortin-4 receptor for the treatment of pro-opiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1, leptin receptor (LEPR) deficiency obesity, and Bardet-Biedl and Alström syndrome. (companieslogo.com)
  • It is also developing setmelanotide, which is in Phase II clinical trials for treating POMC or LEPR heterozygous deficiency obesities, steroid receptor coactivator 1 deficiency obesity, SH2B1 deficiency obesity, MC4 receptor deficiency obesity, Smith-Magenis syndrome obesity, POMC epigenetic disorders, and other MC4R disorders. (companieslogo.com)
  • Genetics can directly cause obesity in specific disorders such as Bardet-Biedl syndrome and Prader-Willi syndrome. (lowcarbisland.com)
  • Diseases: Diseases such as hypothyroidism, insulin resistance, polycystic ovary syndrome, and Cushing's syndrome are also contributors to obesity. (lowcarbisland.com)
  • The negative images of obesity are so strong that growth failure and pubertal delay have been reported in children practicing self-imposed caloric restriction because of fears of becoming obese.26 Other impor-tant complications and associations include pulmo-nary (asthma, obstructive sleep apnea syndrome, pickwickian syndrome),27-32 orthopedic (genu va-rum, slipped capital femoral epiphysis),33,34 and gas-trointestinal/hepatic (nonalcoholic steatohepatitis)35 complications. (1library.net)
  • Science has proven the fact that genetics plays a vital role in your obesity and disorders like Bardet-Biedl syndrome and Prader-Willi syndrome are caused because of genes, but the fact is that genes always do not tell about your future health. (weightlossdietwatch.com)
  • However, there are certain genetic disorders that place individuals at an increased risk of obesity, including Prader-Willi and Bardet-Biedl syndromes. (bistromd.com)
  • Diseases associated with INPP5E include Joubert Syndrome 1 and Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis (MORM) Syndrome. (cyagen.com)
  • Bardet-Biedl syndrome (BBS) is an autosomal recessive inherited condition that affects many parts of the body. (abnewswire.com)
  • BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. (elsevier.com)
  • Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3). (medscape.com)
  • Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
  • Renal tubular diseases have definite and occasionally multiple gene disorders for example proximal RTA (CA2), autosomal recessive distal RTA (AT6B1), and barter syndrome (NKCC2, ROMK). (sid.ir)
  • Bardet-Biedl syndrome is inherited as an autosomal recessive trait and can result from mutations in at least 14 different genes, called BBS genes. (medscape.com)
  • Usher syndrome is inherited in an autosomal recessive manner. (mhmedical.com)
  • Pendred syndrome or DFNB4 hearing loss is inherited in an autosomal recessive manner. (mhmedical.com)
  • For example, retinitis pigmentosa and neural hearing loss characterize Usher syndrome . (rxlist.com)
  • Usher syndrome is characterized by sensorineural hearing loss and retinitis pigmentosa (RP) with or without vestibular dysfunction. (mhmedical.com)
  • The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases. (fightingblindness.org)
  • Other known ciliopathies include primary ciliary dyskinesia, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. (wikipedia.org)
  • Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. (who.int)
  • Katsanis, the Jean and George Brumley Jr., M.D., Professor of Pediatrics and Cell Biology, and Director of the Duke Center for Human Disease Modeling, is a world expert in ciliopathies such as Bardet-Biedl Syndrome, in which the primary cilium of cells is abnormal and leads to a host of problems. (eurekalert.org)
  • Ciliopathies include primary ciliary dyskinesia, polycystic kidney disease, Usher syndrome, nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome as well as some forms of retinal degenerations. (uzh.ch)
  • Recent studies of two types of ciliopathies, Alstrom's Syndrome and Bardet-Biedl Syndrome, connect the primary cilium defects with insulin secretion in pancreatic β-cells. (uconn.edu)
  • Indeed, deficiencies in two 5′ PIP phosphatases, Inpp5E and Ocrl1, are clearly linked to ciliopathies like Joubert/MORM syndromes, or ciliopathy-associated diseases like Lowe syndrome. (cyagen.com)
  • About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. (medlineplus.gov)
  • In cystic renal disease contribution of other genes is now clear: PKD1 (ADPKD), PKHD1 (ARPKD), UMOD (medullary cystic disease), and BBS1 (bardet biedl syndrome), TSC1 (tuberous sclerosis). (sid.ir)
  • His presentation entitled Olfacotory cilia defects from a single point mutation in BBS1, result in impaired odor detection and perception in a Bardet-Biedl syndrome mouse model, focuses on the use of gene replacement to rescue olfactory dysfunction associated with Bardet-Biedl syndrome (BBS). (ufl.edu)
  • Data were downloaded from the cancer genome atlas, gene expression omnibus to evaluate Bardet-Biedl syndrome 4 expression levels in breast cancer. (ijpsonline.com)
  • MacDonald HR, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. (medscape.com)
  • Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes. (amedeo.com)
  • Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (medscape.com)
  • Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. (medscape.com)
  • Relevant articles were reviewed and their findings and results were summarized.Results: some renal diseases are associated with only single gene such as: congenital nephritic syndrome of Finnish type 1 (NPHS1), steroid resistant nephrotic syndrome type 2 (NPHS2), steroid resistant nephroitic syndrome type 3 (PLCE1). (sid.ir)
  • This female-restricted syndrome is caused by heterozygous mutations in the USP9X gene (Xp11.4). (arizona.edu)
  • Background: Bardet-Biedl Syndrome is a disorder with a pleiotropic gene action on multiple phenotypic traits and thus a wide range of clinical variability is seen within and between families. (ijcrr.com)
  • The DISEASE SWEDISH POLISH PORTUGUESE SPANISH RUSSIAN GERMANY Bardet-Biedl Syndrome is a genetic disease caused by a change (mutation) in a gene. (bbs-foundation.org)
  • We then applied this resource to the study of human ciliation disorders and have identified BBS5, a novel gene for Bardet-Biedl syndrome. (wustl.edu)
  • Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium. (cyagen.com)
  • This gene is connected to Bardet- Biedl Syndrome and is thought to be localized in the photoreceptor cells . (uiowa.edu)
  • The proteinprotein interaction relationship was constructed based on search tool for the retrieval of interacting genes/ proteins database and Cytoscape software and the key genes were obtained by module analysis with Cytoscape software molecular complex detection plugin and the prognostic value and survival of Bardet- Biedl syndrome 4 were evaluated by R package. (ijpsonline.com)
  • β-arrestin, a molecular sensor of activated GPCRs, and the BBSome, a complex of Bardet-Biedl Syndrome (BBS) proteins, are required for the signal-dependent exit of ciliary GPCRs but the functional interplay between β-arrestin and the BBSome remains elusive. (biorxiv.org)
  • Unphosphorylated DISC1 regulates canonical Wnt signalling via an interaction with GSK3β, whereas specific phosphorylation at serine 710 (S710) triggers the recruitment of Bardet-Biedl syndrome (BBS) proteins to the centrosome. (strath.ac.uk)
  • Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD+ signaling. (harvard.edu)
  • In BBS (Bardet-Biedl syndrome) proteins coordinate the association of kinesin-2 motors and IFT-A/B complexes (Ou et al. (antiviralbiologic.com)
  • I carried out my Master's thesis in the lab of Prof. Alfred Wittinghofer at the Max Planck Institute of Molecular Physiology, Dortmund, Germany, where I focused on the biochemical and structural characterisation of proteins associated with the Bardet-Biedl syndrome and ciliary trafficking. (kulathulab.org)
  • 1990 ) The Cohen syndrome: retinal lesions and granulocytopenia. (bmj.com)
  • Aicardi syndrome is an inherited disorder that affects the central nervous system and brain and can include retinal malformation (Cassin & Rubin, 2012, p. 26). (prcvi.org)
  • Kearns-Sayre syndrome (KS) is a rare disorder consisting of ptosis, limited movement of the eyes and atypical retinal pigmentary changes. (reviewofoptometry.com)
  • Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. (medlineplus.gov)
  • anosmia) have also been reported in some people with Bardet-Biedl syndrome. (medlineplus.gov)
  • In about 25 percent of people with Bardet-Biedl syndrome, the cause of the disorder is unknown. (medlineplus.gov)
  • In people with Bardet-Biedl syndrome, the progressive reduction in kidney function, known as chronic kidney failure, may require the use of an artificial kidney and lead to a kidney transplant. (bbs-foundation.org)
  • Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. (prelekara.sk)
  • Her research has ranged from across various disease areas including Alzheimer's disease, myelodysplastic syndrome, bleeding disorders and rare pediatric brain tumors. (geneticobesitynews.com)
  • These panels detect variations that occur in neuromuscular disorders, including congenital myopathy/myotonia, limb girdle muscular dystrophy, metabolic myopathies, Walker-Warburg syndrome, spinal muscular atrophy, Charcot-Marie-tooth, and muscular dystrophy. (cd-genomics.com)
  • An interpretation of the molecular pathogenesis with a thorough research into therapeutics may bring about new treatment options for the organ specific disorders of Bardet Beidl Syndrome. (ijcrr.com)
  • Exogenous Cushing syndrome is often iatrogenic and is caused by administration of glucocorticoids used to treat medical disorders. (medscape.com)
  • Defective cilia cause multi-organ disorders such as Bardet-Biedl, Meckel Gruber, and Joubert syndrome. (grantome.com)
  • Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). (archive.org)
  • However, these disorders only affect a few patients and it is not always clear whether they are directly linked to the syndrome. (bbs-foundation.org)
  • Laurence-Moon syndrome is usually considered a separate entity. (wikipedia.org)
  • Often incorrectly called (and confused with) Laurence-Moon-Bardet-Biedl Syndrome, which first should be called Laurence Moon Syndrome and second is a separate entity presenting with spastic paraplegia. (mhmedical.com)
  • 5-12 Bardet-Biedl syndrome (BBS) and Usher syndrome (US) are the most prevalent syndrome forms involving RP. (reviewofoptometry.com)
  • Bardet-Biedl syndrome 4 is the key protein to control cilia formation. (ijpsonline.com)
  • These results were verified in clinical specimens, where in the Bardet-Biedl syndrome 4 protein levels were significantly down regulated in breast cancer tissues compared with non-breast cancer tissues. (ijpsonline.com)
  • Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (medscape.com)
  • Disruption of a ciliary B9 protein complex causes Meckel syndrome. (medscape.com)
  • The tiny ciliary G protein Arl13b is necessary for cilium biogenesis and sonic hedgehog signaling and it is mutated in patients with Joubert syndrome (JS). (antiviralbiologic.com)
  • Bardet-Biedl syndrome is a disorder that affects many parts of the body. (medlineplus.gov)
  • Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. (wikipedia.org)
  • Bardet-Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. (wikipedia.org)
  • Carrying mutations in other genes besides those typically associated with Bardet-Biedl syndrome (BBS) likely contributes to the severity and diversity of the disorder, according to a case report on two brothers. (geneticobesitynews.com)
  • Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. (fightingblindness.org)
  • In Tavish's case, his RP was caused by a rare genetic disorder called Bardet-Biedl syndrome (BBS) . (fightingblindness.ca)
  • Alström Syndrome is a rare genetic disorder that affects multiple organ systems. (empr.com)
  • Her top areas of expertise are Microcephaly Deafness Syndrome, HNRNPH2-Related Disorder, Achalasia Microcephaly Syndrome, and Microcephaly. (medifind.com)
  • Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. (cyagen.com)
  • 1996 ) Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: a radiographic study. (bmj.com)
  • Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. (medscape.com)
  • DFNB4 hearing loss is characterized by the same features of Pendred syndrome without thyroid abnormalities. (mhmedical.com)
  • Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability , and a distinctive facial appearance. (rareginews.com)
  • Many children with recombinant chromosome 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities. (rareginews.com)
  • Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. (medscape.com)
  • Clinical features in Joubert syndrome. (cyagen.com)
  • A) Facial features in a girl with Joubert syndrome (COACH syndrome) at age 27 months showing broad forehead, arched eyebrows, strabismus, eyelid ptosis (on right eye), and open mouth configuration indicating reduced facial tone. (cyagen.com)
  • B) Oral findings in a child with oral-facial-digital syndrome-like features of Joubert syndrome showing midline upper lip cleft (arrowhead), midline groove of tongue, and bumps of the lower alveolar ridge (arrow). (cyagen.com)
  • What are the clinical studies going on for Bardet-Biedl Syndrome and their status? (abnewswire.com)
  • A multidisciplinary approach to the clinical management of Prader-Willi syndrome. (medscape.com)
  • We will achieve this by implementing an EU registry for Rare Diabetes Syndromes (RDS), containing clinical, genetic diagnostic and outcome data. (europa.eu)
  • Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. (medscape.com)
  • Clinical conditions vary from asymptomatic patients to patients presenting with symptoms of upper respiratory tract infection to moderate/severe manifestation such as pneumonia, severe acute respiratory distress syndrome (ARDS), multi-organ failure (MOF) and even death. (biomedcentral.com)
  • Conclusion: The diagnosis of Bardet Beidl syndrome (BBS) is established by clinical findings. (ijcrr.com)
  • Refsum's syndrome is characterized by defective peroxisomal alpha oxidation of phytanic acid with clinical features that include RP, polyneuropathy, anosmia and hearing loss. (reviewofoptometry.com)
  • His research interests include functional genetics of rare diabetes syndromes, translational research to early phase clinical trials in rare disease and complex interventions to reduce health inequalities in childhood diabetes. (medicalindependent.ie)
  • He leads the NHS's national specialist commissioned services for the rare diabetes syndromes Wolfram, Alstrom, and Bardet Biedl, and runs a busy clinical practice of general diabetes, type 2 diabetes in children, and tertiary endocrinology. (medicalindependent.ie)
  • Cushing syndrome involves a combination of clinical features that result from prolonged exposure to excess cortisol, either exogenous or endogenous. (medscape.com)
  • [ 15 ] In this case, although the patient had received oral steroids for his skin condition, neither his clinical features nor his laboratory results suggest Cushing syndrome. (medscape.com)
  • Rhythm Pharmaceuticals, Inc. has a collaborative research agreement with the Clinical Registry Investigating Bardet-Biedl Syndrome. (companieslogo.com)
  • Cockayne syndrome: Clinical features, model systems and pathways. (harvard.edu)
  • In a retrospective study, MendelScan highlighted twelve patients with clinical features of Ehler-Danlos syndrome. (mendelian.co)
  • An isolated clinical syndrome (acronym CIS, for clinically isolated syndrome) is a person's first neurological episode caused by demyelination of nervous tissue. (parapsychologicalmedicine.com)
  • Fermin Gutierrez MA, Mendez MD. Prader-Willi Syndrome. (medscape.com)
  • Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. (medscape.com)
  • Recommendations for the Diagnosis and Management of Prader-Willi Syndrome. (medscape.com)
  • High Incidence of Hip Dysplasia but not Slipped Capital Femoral Epiphysis in Patients With Prader-Willi Syndrome. (medscape.com)
  • Pandey SN, Vaidya RA, Irani A. Growth hormone treatment in a girl with Prader Willi syndrome. (medscape.com)
  • Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome. (medscape.com)
  • Gastric Rupture and Necrosis in Prader-Willi Syndrome. (medscape.com)
  • Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. (medscape.com)
  • Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. (medscape.com)
  • Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. (medscape.com)
  • Gold JA, Mahmoud R, Cassidy SB, Kimonis V. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. (medscape.com)
  • Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. (medscape.com)
  • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. (medscape.com)
  • Infants with Prader-Willi syndrome present with hypotonia and difficulty feeding due to poor sucking and swallowing reflexes. (medscape.com)
  • Children with Prader-Willi syndrome typically have mild-to-moderate intellectual impairment and learning disabilities. (medscape.com)
  • Patients with Prader-Willi syndrome have short stature , and their bone age lags behind their chronological age. (medscape.com)
  • Growth hormone can help children with Prader-Willi syndrome to normalize height, increase lean body mass and mobility, and decrease fat mass. (medscape.com)
  • Other skin lesions have also been reported in association with Prader-Willi syndrome. (medscape.com)
  • Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). (medlineplus.gov)
  • Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (medscape.com)
  • DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations . (arizona.edu)
  • This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review. (ajkd.org)
  • Mainzer - Saldino syndrome or Cono - renal syndrome describes the association of cone shaped phalangeal epiphyses and nephronophthisis. (neocyst.de)
  • BBS is one such syndrome that has now been identified to be caused by defects in the cellular ciliary structure. (wikipedia.org)
  • Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. (harvard.edu)
  • An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes. (euro-wabb.org)
  • The French Wolfram Association seeks to contribute to the development of medical research and to the improvement of the practices of cares relating to the syndrome of Wolfram. (euro-wabb.org)
  • About one child in 1,000 live births will have a ciliopathy, an incidence that is in the range of Down's syndrome, said Katsanis. (eurekalert.org)
  • The Center of Excellence for Bardet-Biedl Syndrome hosts patients from across the world and has become a leader in cutting edge translational research in this rare ciliopathy. (madisonrecruiter.com)
  • 8. Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet- Biedl and allied diseases in Switzerland. (ijcrr.com)
  • A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. (harvard.edu)
  • The manifestations and severity of the syndrome vary considerably from person to person. (bbs-foundation.org)
  • IMSEAR at SEARO: Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. (who.int)
  • Prof Barrett has published over 200 research papers in scientific journals as well as reviews and book chapters in the fields of paediatrics, diabetes, and genetics of childhood diabetes syndromes. (medicalindependent.ie)
  • Pendred syndrome is characterized by nonsyndromic hearing loss with enlarged vestibular aqueducts (EVA) and/or Mondini dysplasia (incomplete partition or common cavity malformation of the inner ear) in combination with euthyroid goiter or thyroid dysfunction. (mhmedical.com)
  • Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model. (harvard.edu)
  • 1999 ) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. (bmj.com)
  • 3. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. (ijcrr.com)
  • The family attended their first conference in 1998 following the diagnosis of their son, Daniel, and were so grateful to the young people and adults with the syndrome for enabling them to picture a positive future. (bbs-foundation.org)
  • Center of Excellence for Bardet-Biedl Syndrome Marshfield Clinic Health System is the only health system in the nation that provides comprehensive care for patients with Bardet-Biedl syndrome. (madisonrecruiter.com)
  • In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. (medlineplus.gov)
  • Bardet-Biedl syndrome is a rare disease whose prevalence (number of people affected in a population at a given time) is between 1 in 100,000 and 1 in 160,000 for the populations of Europe and North America. (bbs-foundation.org)
  • This syndrome is much more common in certain isolated populations such as the Bedouin populations of Kuwait where the prevalence is estimated at 1 in 13,500. (bbs-foundation.org)
  • The Study of Prevalence of Cardiovascular (CV) Risk Factors in Diagnosed Patients of Acute Coronary Syndrome (ACS). (aimdrjournal.com)
  • Appointed President of the Bardet Biedl France Association in 2018, she and her team are working to increase awareness of the syndrome and to raise funds and interact with the various French doctors in charge of research for BBS. (bbs-foundation.org)
  • The FDA did not approve the company's supplemental new drug application for setmelanotide in Alström syndrome. (medscape.com)
  • The Food and Drug Administration (FDA) has granted Orphan Drug designation to setmelanotide (Rhythm Pharmaceuticals) for the treatment of Alström Syndrome. (empr.com)
  • Orphan drug designation from the FDA reinforces the urgency of our work with setmelanotide in Alström syndrome, as we advance our pivotal phase 3 trial to topline data expected by the end of this year or early next year," said Murray Stewart, MD, Chief Medical Officer of Rhythm. (empr.com)
  • citation needed] The syndrome is named after Georges Bardet and Arthur Biedl. (wikipedia.org)
  • The additional genetic changes could help explain the variability in the signs and symptoms of Bardet-Biedl syndrome. (medlineplus.gov)
  • In some types ( muscular atrophy, Rett syndrome, among others), the signs and symptoms appear from the birth or early stages of the person's life (Orphanet, 2012). (itspsychology.com)
  • Individuals with Alstrom syndrome may have photophobia, nystagmus , and a form of cone-rod dystrophy that is progressive (Pediatric Ophthalmology Education Center, August 26, 2016). (prcvi.org)
  • The visual disturbances characteristic of Bardet-Biedl syndrome are due to an impairment of the retina, called retinopathy pigmentosa. (bbs-foundation.org)
  • A Study of Lipid Profile and CRP in Children with Nephrotic Syndrome. (aimdrjournal.com)
  • Linkage of Bardet- Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. (ijcrr.com)
  • Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. (ijcrr.com)
  • Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. (harvard.edu)
  • Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (harvard.edu)
  • Recombinant chromosome 8 syndrome is caused by a rearrangement of chromosome 8 that results in a missing piece of the short (p) arm and an extra piece of the long (q) arm. (rareginews.com)
  • DeMorsier's Syndrome may cause blindness in one or both eyes and is also often accompanied by nystagmus and various other symptoms. (qldblind.org.au)
  • Dopamine and sexual power, consigns assiter, a. queer theory, especially revisiting woman woman marriage : Notes judith butler s gender can become pinched by the reproducible polyethylene fungal, parasites, viral bardet biedl syndrome. (psm.edu)
  • Bardet-Biedl Syndrome affects both boys and girls and usually begins at birth and is not contagious. (bbs-foundation.org)
  • Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. (medscape.com)
  • In this study, Jin and colleagues studied genes that have been implicated in Bardet-Biedl syndrome (BBS), a genetic disease that is fairly rare. (drwile.com)
  • Furthermore, the human genome is estimated to contain about 80,000 genes, so many rare syndromes may have yet to be defined. (medscape.com)
  • E ditor -Fig 1 in the paper by Beales et al 1 shows portraits of six patients with the Bardet-Biedl syndrome (BBS). (bmj.com)
  • Fintepla (fenfluramine) - New indication for seizures associated with Lennox-Gastaut syndrome (previously approved for seizures associated with Dravet syndrome) in patients aged 2 years and older. (medscape.com)
  • In 20 (40%) patients, puerperal sepsis was the etiological factor, while pre-eclampsia, eclampsia and HELLP syndrome accounted for 18 (36%) patients. (sjkdt.org)
  • Two (4%) patients had dissemi nated intravascular coagulation on presentation while one (2%) patient was diagnosed with hemolytic uremic syndrome. (sjkdt.org)
  • Images depicting the hands of patients with Apert syndrome can be seen below. (medscape.com)