Bardet biedl syndrome. Medical search

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)

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 cliopathic 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 ...

https://en.wikipedia.org/wiki/Vaginal_atresia

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. ...

https://en.wikipedia.org/wiki/BBSome

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- ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

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 ...

https://en.wikipedia.org/wiki/BBS9

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: ...

https://en.wikipedia.org/wiki/TTC8

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 ...

https://en.wikipedia.org/wiki/BBS10

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. ...

https://en.wikipedia.org/wiki/Nikhil_Tandon

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. doi:10.1073/pnas.0600158103. PMC 1458870 ...

https://en.wikipedia.org/wiki/TRIM32

... Bardet-Biedl syndrome 1". CS1 maint: discouraged parameter (link) GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl syndrome ... 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 ...

https://en.wikipedia.org/wiki/BBS1

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 ...

https://en.wikipedia.org/wiki/BBS4

"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 ...

https://en.wikipedia.org/wiki/BBS5

One such example is Bardet-Biedl syndrome. Rarely, blindness is caused by the intake of certain chemicals. A well-known example ... 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 ...

https://en.wikipedia.org/wiki/Visual_impairment

Biedl-Bardet syndrome.. *Brain tumors e.g. craniopharyngioma, prolactinoma, germinoma, glioma; diseases of hypothalamus, ... Hypothalamic defects and diseases e.g. Prader-Willi syndrome, Kallmann syndrome.. *Pituitary defects and diseases e.g. ... Gonadal defects and diseases e.g. Turner syndrome, Klinefelter syndrome, Testicular failure due to mumps orchitis, ... Noonan Syndrome [13]. Constitutional delay of growth and puberty[edit]. Children who are healthy but have a slower rate of ...

https://en.wikipedia.org/wiki/Sexual_infantilism

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: ...

https://en.wikipedia.org/wiki/CCDC28B

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 ...

https://en.wikipedia.org/wiki/MKKS

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/ ...

https://en.wikipedia.org/wiki/Human_disease_modifier_gene

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 ...

https://en.wikipedia.org/wiki/BBS7

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. ... encephalocele genes are associated with Bardet-Biedl syndrome ... 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 ... 2007). "Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome". Hum. Mutat. 28 (6 ...

https://en.wikipedia.org/wiki/MKS1

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). ...

https://en.wikipedia.org/wiki/Hydrocolpos

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 ...

https://en.wikipedia.org/wiki/BBS12

"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 ( ...

https://en.wikipedia.org/wiki/BBS2

... including Bardet-Biedl syndrome, orofaciodigital syndrome, Joubert syndrome, cone-rod dystrophy, Meckel syndrome, and ... Basal body dysfunction is a likely cause of pleiotropic Bardet‐Biedl 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 ...

https://en.wikipedia.org/wiki/Basal_body

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 ... Inherited defects in components of the transition zone cause ciliopathies, such as Joubert syndrome. Transition zone structure ...

https://en.wikipedia.org/wiki/Cilium

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)". ...

https://en.wikipedia.org/wiki/ARL4D

"Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex". The Journal of Biological Chemistry. 294 (44): ...

https://en.wikipedia.org/wiki/Coiled_coil

... 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 ...

https://en.wikipedia.org/wiki/PCM1

"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 ...

https://en.wikipedia.org/wiki/Shapiro–Senapathy_algorithm

... most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome". Nature Genetics. 31 (4): 435-438. doi: ... as a Bardet-Biedl syndrome gene (BBS11)". Proceedings of the National Academy of Sciences. 103 (16): 6287-6292. doi:10.1073/ ... "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 ...

https://en.wikipedia.org/wiki/Rivka_Carmi

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 ...

https://en.wikipedia.org/wiki/Cone_dystrophy

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 ...

https://en.wikipedia.org/wiki/Ciliopathy

Joubert syndrome 8. *ARL6 *Bardet-Biedl syndrome 3. MAP kinase. *Cardiofaciocutaneous syndrome ... The Coffin-Lowry Syndrome Foundation[10] acts as a clearinghouse for information on Coffin-Lowry syndrome and hosts a forum for ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. Retrieved 29 February 2016.. ...

https://en.wikipedia.org/wiki/Coffin–Lowry_syndrome

One such example is Bardet-Biedl syndrome. PoisoningEdit. Rarely, blindness is caused by the intake of certain chemicals. A ... Childhood blindness can be caused by conditions related to pregnancy, such as congenital rubella syndrome and retinopathy of ... and genetically transmitted syndromes.[29] Cataracts are the leading cause of child and adult blindness that doubles in ... congenital nubella syndrome, vitamin A deficiency, or meningitis.[41] If left untreated during childhood, amblyopia is ...

https://en.m.wikipedia.org/wiki/Blindness

Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some ... Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, ... Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section ... Ellis-van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some ...

https://en.wikipedia.org/wiki/Ellis–van_Creveld_syndrome

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... Branchio-oculo-facial syndrome. References[edit]. *^ a b "Branchiootorenal syndrome". Genetics Home Reference. 2015-11-23. ... Diagnosis of BO syndrome or BOR syndrome is clinical, ie based on observing an appropriate combination of symptoms[7]. Only ... The disease may then be termed Branchio-oto Syndrome (BO syndrome)[4]. ...

https://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome

Debelost je glavna značilnost več sindromov, kot so Prader-Willi, Bardet-Biedl, Cohenov sindrom in MOMO. Izraz »nesindromska ... Grundy SM (2004). "Obesity, metabolic syndrome, and cardiovascular disease". J. Clin. Endocrinol. Metab. Vol. 89 no. 6. str. ... Dentali F; Squizzato A; Ageno W (julij 2009). "The metabolic syndrome as a risk factor for venous and arterial thrombosis". ... julij 2006). "The obesity paradox in non-ST-segment elevation acute coronary syndromes: Results from the Can Rapid risk ...

https://sl.m.wikipedia.org/wiki/Debelost

Joubert syndrome 8. *ARL6 *Bardet-Biedl syndrome 3. MAP kinase. *Cardiofaciocutaneous syndrome ... It is often associated with Cowden syndrome.[1] It was described by Jacques Jean Lhermitte and P. Duclos in 1920.[2] ... Like cowden syndrome, patients with Lhermitte-Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling ... Patients with Lhermitte-Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, ...

https://en.wikipedia.org/wiki/Lhermitte–Duclos_disease

... a reprezintă o caracteristică importantă a câtorva sindroame, precum sindromul Prader-Willi, sindromul Bardet-Biedl, ... The metabolic syndrome as a risk factor for venous and arterial thrombosis". Semin. Thromb. Hemost. 35 (5): 451-7. doi:10.1055/ ... Obesity, metabolic syndrome, and cardiovascular disease". J. Clin. Endocrinol. Metab. 89 (6): 2595-600. doi:10.1210/jc.2004- ... Hypogonadism and metabolic syndrome: Implications for testosterone therapy". J. Urol. 174 (3): 827-34. doi:10.1097/01.ju. ...

https://ro.wikipedia.org/wiki/Obezitate

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... Seckel syndrome. 210600. People with Seckel syndrome are noted to have microcephaly. Many also suffer from scoliosis, hip ... Meier-Gorlin syndrome. 224690. Individuals with Meier-Gorlin syndrome often have small ears and no kneecaps. They are also ... Like Russell-Silver syndrome, they usually exceed the height of those with Seckel syndrome and ODPDI and II. It is also known ...

https://en.wikipedia.org/wiki/Primordial_dwarfism

Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, and some forms of retinal ... 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 Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-12-02.. ... 1990). "Meckel-Gruber syndrome; Importance of Prenatal Diagnosis". Journal of Ultrasound in Medicine. 9 (12): 691-696. doi: ...

https://en.wikipedia.org/wiki/Meckel_syndrome

Bardet-Biedl syndrome. *Bardet-Biedl syndrome, type 1. *Bardet-Biedl syndrome, type 2 ... chapter 6 epileptic syndromes in infants, childhood and adolescence 4th edition, CHARLOTTE DRAVET MICHELLE BUREAU ... Bardet-Biedl syndrome, type 3. *Bardet-Biedl syndrome, type 4. *Bare lymphocyte syndrome 2 ...

https://en.wikipedia.org/wiki/List_of_diseases_

Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel- ... Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first ... NINDS Joubert Syndrome Information Page Researchers Identify Joubert Syndrome Genes GeneReviews: Joubert syndrome University of ... "Joubert syndrome". Genetics Home Reference. Retrieved 2016-12-19. Reference, Genetics Home. "Joubert syndrome". Genetics Home ...

https://en.wikipedia.org/wiki/Joubert_syndrome

Joubert syndrome 8. *ARL6 *Bardet-Biedl syndrome 3. MAP kinase. *Cardiofaciocutaneous syndrome ... "Charcot-Marie-Tooth Syndrome. CMT information". Patient.. *^ Carter, Gregory T.; Jensen, Mark P.; Galer, Bradley S.; Kraft, ... Stiff-man and Charcot-Marie-Tooth syndromes". The American Journal of the Medical Sciences. 313 (1): 70-73. doi:10.1097/ ... as well as postherpetic neuralgia and complex regional pain syndrome, among other diseases.[9] ...

https://en.wikipedia.org/wiki/Charcot–Marie–Tooth_disease

Kallmann syndrome causes deficiency of the gonadotropins only. Bardet-Biedl syndrome and Prader-Willi syndrome have been ... In children, hypothyroidism leads to delayed growth and in extreme inborn forms to a syndrome called cretinism.[1][6] ... Antidiuretic hormone (ADH) deficiency leads to the syndrome of diabetes insipidus (unrelated to diabetes mellitus): inability ... For instance, growth hormone deficiency is associated with obesity, raised cholesterol and the metabolic syndrome, and ...

https://en.wikipedia.org/wiki/Hypopituitarism

... er en viktig del av flere syndromer, for eksempel Prader-Willi-syndrom, Bardet-Biedl-syndrom, Cohens syndrom og MOMO- ... Dentali F, Squizzato A, Ageno W (2009). «The metabolic syndrome as a risk factor for venous and arterial thrombosis». Semin. ... Grundy SM (2004). «Obesity, metabolic syndrome, and cardiovascular disease». J. Clin. Endocrinol. Metab. 89 (6): 2595-600. PMID ... Case Study: Cataplexy and SOREMPs Without Excessive Daytime Sleepiness in Prader Willi Syndrome. Is This the Beginning of ...

https://no.wikipedia.org/wiki/Overvekt

... sa ibang mga sanhing henetiko ng mababang paningin o pagkabulag at ang isang gayong halimbawa ang sindromang Bardet-Biedl. ... Ang pagkabulag sa bata ay maaaring sanhi ng mga kondisyong nauugnay sa pagbubuntis gaya ng congenital rubella syndrome at ...

https://tl.wikipedia.org/wiki/Pagkabulag

... and developmental delay with an autosomal recessive inheritance pattern is seen with Bardet-Biedl syndrome[9] ... Alport's syndrome is associated with RP and an abnormal glomerular-basement membrane leading to nephrotic syndrome. It is ... A mutation on the USH2A gene is known to cause 10-15% of a syndromic form of RP known as Usher's Syndrome when inherited in an ... RP combined with deafness (congenital or progressive) is called Usher syndrome.[7] ...

https://en.wikipedia.org/wiki/Retinitis_pigmentosa

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by excessive physical ... "Sotos syndrome". Genetics Home Reference.. *^ Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. (April 2002 ... "Sotos Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.. ...

https://en.wikipedia.org/wiki/Sotos_syndrome

Kegemukan merupakan gambaran utama pada beberapa sindrom, misalnya Sindrom Prader-Willi, Sindrom Bardet-Biedl, Sindrom Cohen, ... Grundy SM (2004). "Obesity, metabolic syndrome, and cardiovascular disease". J. Clin. Endocrinol. Metab. 89 (6): 2595-600. doi: ... Dentali F, Squizzato A, Ageno W (2009). "The metabolic syndrome as a risk factor for venous and arterial thrombosis". Semin. ... "Case Study: Cataplexy and SOREMPs Without Excessive Daytime Sleepiness in Prader Willi Syndrome. Is This the Beginning of ...

https://id.wikipedia.org/wiki/Kegemukan

... is a major feature in several syndromes, such as Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, and MOMO ... Cushing's syndrome, growth hormone deficiency,[129] and the eating disorders: binge eating disorder and night eating syndrome.[ ... Grundy SM (June 2004). "Obesity, metabolic syndrome, and cardiovascular disease". The Journal of Clinical Endocrinology and ... These comorbidities are most commonly shown in metabolic syndrome,[2] a combination of medical disorders which includes: ...

https://en.m.wikipedia.org/wiki/Weight_control

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth ... Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including ... Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome ...

https://en.wikipedia.org/wiki/VACTERL_association

Joubert syndrome 8. *ARL6 *Bardet-Biedl syndrome 3. MAP kinase. *Cardiofaciocutaneous syndrome ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. ... OSLAM syndrome. References[edit]. *^ Custódio G; et al. (July 2013). "Impact of neonatal screening and surveillance for the ...

https://en.wikipedia.org/wiki/Li-Fraumeni_syndrome

Unene wa kupindukia ni kipengele kikuu katika sindromu kadhaa kama vile sindromu ya Prader-Willi, sindromu ya Bardet-Biedl, ... Grundy SM (2004). "Obesity, metabolic syndrome, and cardiovascular disease". J. Clin. Endocrinol. Metab. 89 (6): 2595-600. doi: ... Dentali F, Squizzato A, Ageno W (July 2009). "The metabolic syndrome as a risk factor for venous and arterial thrombosis". ... July 2006). "The obesity paradox in non-ST-segment elevation acute coronary syndromes: Results from the Can Rapid risk ...

https://sw.wikipedia.org/wiki/Unene_wa_kupindukia

Acosta-Ochoa, MI; Ampuero-Anachuri, K; Tavarez-Paniagua, R; Plagaro-Cordero, ME; Molina-Miguel, A «Bardet-Biedl syndrome, the ... Vankalakunti, M; Gupta, K; Kakkar, N; Das, A «Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome)» (en anglès). ... GARD «Goodpasture syndrome» (en anglès). Diseases, National Center for Advancing Translational Sciences/NIH, 2017; Mar 28 (rev ... Knoers, NVAM; Levtchenko, EN «Gitelman syndrome» (en anglès). Orphanet J Rare Dis, 2008 Jul 30; 3, pp: 22. DOI: 10.1186/1750- ...

https://ca.wikipedia.org/wiki/Ronyó

basal body: Bardet-Biedl syndrome. *mitotic spindle: Meckel syndrome. *centrosome: Joubert syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely ...

https://en.wikipedia.org/wiki/Genetic_defects

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... type 4 - Goodman syndrome;[10][11] now classified with Carpenter syndrome[12] ... DDB Apert syndrome *^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical ... a b Online Mendelian Inheritance in Man (OMIM) Pfeiffer syndrome -101600 *^ Online Mendelian Inheritance in Man (OMIM) ...

https://en.wikipedia.org/wiki/Acrocephalosyndactylia

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... Like other imprinting disorders (e.g. Prader-Willi syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome), Silver- ... Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism or Russell-Silver syndrome (RSS) is a growth disorder ... In the United States it is usually referred to as Russell-Silver syndrome, and Silver-Russell syndrome elsewhere. It is one of ...

https://en.wikipedia.org/wiki/Russell-Silver_syndrome

Laurence-Moon-Bardet-Biedl. *Bardet-Biedl syndrome. *Laurence-Moon syndrome. Combined/other,. known locus. *2 (Feingold ... It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome.[2][9][ ... Maternal diabetes mellitus has been associated with caudal regression syndrome and sirenomelia,[3][4] although a few sources ... Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together. ...

https://en.wikipedia.org/wiki/Sirenomelia

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 ...

https://en.wikipedia.org/wiki/Foundation_Fighting_Blindness

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 ...

https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome

At least 14 different genes have been identified that may be mutated or altered in individuals with this syndrome. ... Bardet-Biedl Syndrome is a genetically inherited condition. It is the result of inheriting mutations or alterations in the ... Inheritance of Bardet-Biedl syndrome. Bardet-Biedl syndrome is inherited in an autosomal recessive pattern. This means for a ... Genetics of Bardet-Biedl syndrome. There are 14 different genes that may be altered or mutated in individuals with Bardet-Biedl ...

https://www.news-medical.net/health/Bardet-Biedl-Syndrome-Pathophysiology.aspx

Bardet-Biedl syndrome is a condition that affects several parts of the body. It runs in families and may severely impair the ... Causes of Bardet-Biedl syndrome. Bardet-Biedl syndrome is a genetically inherited condition. It results from mutations in at ... Bardet-Biedl syndrome epidemiology. This is a rare condition and is seen in 1 in 140,000 to 1 in 160,000 newborns in most of ... Bardet-Biedl syndrome is a condition that affects several parts of the body. It runs in families and may severely impair the ...

https://www.news-medical.net/health/What-is-Bardet-Biedl-Syndrome.aspx

... 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, ...

https://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome

... decreased visual functions and visual prognosis for patients with Bardet-Biedl syndrome by reviewing the case of a 14-year-old ...

https://www.aaopt.org/detail/knowledge-base-article/ocular-manifestations-bardet-biedl-syndrome

Bardet-Biedl syndrome was historically termed Laurence-Moon-Biedl-Bardet syndrome by the physicians who described the first ... Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet. 2005;76:493-504. ... It is now generally considered that Bardet-Biedl syndrome and Laurence-Moon syndrome (see Related Disorders) are distinct ... meaning that in such cases Bardet-Biedl syndrome and Meckel syndrome occur from different mutations of the same gene (allelic ...

https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the responsible genes have ... Mutations in MKKS cause Bardet-Biedl syndrome Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. ... Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the responsible genes have ... McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also ...

https://pubmed.ncbi.nlm.nih.gov/10973238/?dopt=Abstract

... has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a ... Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six ... The molecular genetics of Bardet-Biedl syndrome Curr Opin Genet Dev. 2001 Jun;11(3):317-21. doi: 10.1016/s0959-437x(00)00196-9 ... Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six ...

https://pubmed.ncbi.nlm.nih.gov/11377969/?dopt=Abstract

LD2Y Other specified multiple developmental anomalies or syndromes. H00418 Bardet-Biedl syndrome. ... H00418 Bardet-Biedl syndrome. Human diseases in ICD-11 classification [BR:br08403]. 20 Developmental anomalies. Multiple ... Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in ... Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). ...

https://www.genome.jp/dbget-bin/www_bget?H00418

Click on a [studies] link to search within your current results for studies in that region. Use the back button to return to this list and try another region ...

https://clinicaltrials.gov/ct2/results/map?cond=%22Bardet-Biedl+syndrome%22&map=

Living with Bardet-Biedl syndrome Post date: Wednesday, 25 October 2017. As part of RNIBs #HowISee campaign, Connect community ... I have a rare genetic condition called Laurence-Moon-Bardet-Biedl syndrome (BBS), which affects 1 in 1,000 babies born in the ... The eye conditions I have as a result of this syndrome are nystagmus, cataracts and retinitis pigmentosa. Because of these, I ... Living with Bardet-Biedl syndrome. ...

http://www.rnib.org.uk/rnibconnect/living-with-bbs

Home / For Patients and Families / Find a Patient Organization / Bardet Biedl Syndrome Family Association ... Bardet Biedl Syndrome Family Association. Address. PO Box 8852. Surprise, AZ 85374 ...

https://rarediseases.org/organizations/bardet-biedl-syndrome-family-association/

Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, ... Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, ... Bardet-Biedl syndrome (BBS) is a genetic syndrome with autosomal recessive transfer, characterised by retinal dystrophy, ... Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure. Cem Sahin. ,1 Bulent Huddam. ,2 Gulhan Akbaba. , ...

https://www.hindawi.com/journals/crin/2015/764973/

Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome. Pediatr Obes. 2020 Jul 22:e12703. doi: 10.1111/ ... Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS). The safety and scientific validity of this study is the ... Bardet-Biedl syndrome: A model for translational research in rare disease. New Horizons in Translational Medicine 2: 102-109, ... Renal transplantation in Bardet-Biedl Syndrome. Pediatr Nephrol. 2016 Nov;31(11):2153-61. doi: 10.1007/s00467-016-3415-4. Epub ...

https://clinicaltrials.gov/ct2/show/results/NCT02329210

Clinical Registry Investigating Bardet-Biedl Syndrome. The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is ... Bardet-Biedl syndrome (BBS) is a rare genetic disorder present from birth that affects many parts of the body.. Marshfield ... Services > Bardet-Biedl Syndrome (BBS). Bardet-Biedl syndrome (BBS): A rare genetic disease. ...

https://www.marshfieldclinic.org/services/bardet-biedl-syndrome-

2004) Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc ... Bardet-Biedl syndrome (BBS) is clinically diagnosed by the presence of at least four of the following signs: retinal dystrophy ... 1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 36:437-446. ... 2008) Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet 17:1956-1967. ...

https://www.pnas.org/content/108/15/6276?ijkey=75f9bb5fe699ee9403807d196b6f3a41b1c98482&keytype2=tf_ipsecsha

Laurence Moon Bardet Biedl Syndrome. c/o The Foundation Fighting Blindness. Hunt Valley MD 21031. 4107851414. 8883943937. e- ... Handbook of Genetic Counseling/Bardet-Biedl Syndrome-2. From Wikibooks, open books for an open world ... Retrieved from "https://en.wikibooks.org/w/index.php?title=Handbook_of_Genetic_Counseling/Bardet-Biedl_Syndrome-2&oldid=3306889 ... Chromosome locations: This syndrome is linked to 6 different loci-BBS1 on 11q13, BBS2 on 16q21, BBS3 on 3p13, BBS4 on 15q22.3, ...

https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Bardet-Biedl_Syndrome-2

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N. Engl. J. Med. 321:1002-1009. ... Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat. Genet ... Energy metabolism in Bardet-Biedl syndrome. Int. J. Obes. Relat. Metab. Disord. 27:1319-1324. View this article via: CrossRef ... Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell. Mol. Life Sci. 63:2145-2161. View this ...

https://www.jci.org/articles/view/32357

Bardet-Biedl syndrome 7 protein homologAdd BLAST. 715. Amino acid modifications. Feature key. Position(s). DescriptionActions. ... "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.". Badano J.L ... sp,Q8K2G4,BBS7_MOUSE Bardet-Biedl syndrome 7 protein homolog OS=Mus musculus OX=10090 GN=Bbs7 PE=1 SV=1 ... Bardet-Biedl syndrome 7 protein hom.... Bardet-Biedl syndrome 7 protein homolog ...

https://www.uniprot.org/uniprot/Q8K2G4

Bardet-Biedl syndrome 5Imported. ,p>Information which has been imported from another database using automatic procedures.,/p> , ... tr,A4IHK9,A4IHK9_XENTR Bardet-Biedl syndrome 5 OS=Xenopus tropicalis GN=bbs5 PE=2 SV=1 ...

http://www.uniprot.org/uniprot/A4IHK9

We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene ... We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene ... Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol 2011; 6: 22 ... A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. *Tatsuyuki Ohto. ...

https://www.nature.com/articles/hgv201733?error=cookies_not_supported&code=20fb6fbf-8fd0-44f7-a00b-fbadd11ea621

In Bardet-Biedl syndrome (BBS), mutations that affect the function of primary cilia cause retinal degeneration, obesity, kidney ...

https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3000414

Bardet-Biedl Syndrome UK is the only registered charity supporting people with Bardet-Biedl Syndrome, their families and carers ... Bardet-Biedl Syndrome UK is the only registered charity supporting people with Bardet-Biedl Syndrome, their families and carers ... Awareness of the Syndrome has grown massively as a result and the Charity now supports over 500 families and communicates with ... They have children with BBS or have the syndrome themselves, and they willingly give up their time to provide support, raise ...

https://www.raredisease.org.uk/member/bardet-biedl-syndrome-uk/

Bardet-Biedl Syndrome [BBS2]: Features include retinitis pigmentosa, obesity, polydactyly, intellectual disability/ ...

https://www.jewishgeneticdiseases.org/diseases/bardet-biedl-syndrome/

Background Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy that displays retinal dystrophy, obesity ... The phenotypes observed frequently overlapped with Alström syndrome and, in the case of chaperonin-like genes, McKusick- ... further complicate the diagnosis of this syndrome. Thus, the main purpose of this study was to elucidate some genotype- ...

https://jmg.bmj.com/content/early/2015/06/16/jmedgenet-2015-103099?versioned=true

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families Message subject: (Your Name) has forwarded a page ...

https://jmg.bmj.com/content/52/8/503.share

... previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. ... Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive ... 1. Alton DJ, Mcdonald P. Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome. Radiology ... Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome). Urol Radiol. 1988;10 ( ...

https://radiopaedia.org/articles/bardet-biedl-syndrome?lang=us

... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Bardet-Biedl syndrome ... PubMed is a searchable database of medical literature and lists journal articles that discuss Bardet-Biedl syndrome 3. Click on ... The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) reflects the time, energy, and vision of the BBS community, ...

https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3

Bardet Biedl Syndrome (BBS) is an inherited recessive ciliopathy affecting Hungarian Puli. The disease is characterised by ... It is very unlikely that the dog will develop Bardet Biedl Syndrome (BBS) but since it carries the mutant gene, it can pass it ... The dog is likely to develop Bardet Biedl Syndrome (BBS) and will pass the mutant gene to its entire offspring ... Bardet Biedl Syndrome (BBS) is an inherited recessive ciliopathy affecting Hungarian Puli. The disease is characterised by ...

https://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8207

... or other types of Bardet-Biedl syndrome, type 7 complication. ... Complications of Bardet-Biedl syndrome, type 7 including hidden ... See also the symptoms of Bardet-Biedl syndrome, type 7 and Bardet-Biedl syndrome, type 7: Introduction. You may also want to ... In many cases the distinction between symptoms of Bardet-Biedl syndrome, type 7 and complications of Bardet-Biedl syndrome, ... Complications of Bardet-Biedl syndrome, type 7 are secondary conditions, symptoms, or other disorders that are caused by Bardet ...

http://www.rightdiagnosis.com/b/bardet_biedl_syndrome_type_7/complic.htm

Bardet-Biedl syndrome was historically termed Laurence-Moon-Biedl-Bardet syndrome by the physicians who described the first cases of the syndrome. (rarediseases.org)

About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. (medlineplus.gov)
Around 25% of all cases of this syndrome result from mutations in the BBS1 gene. (news-medical.net)
To study safety and efficacy of subretinal adeno-associated virus (AAV) vector AAV- Bbs1 injection for treatment of a mouse model of Bardet-Biedl syndrome type 1 (BBS1). (arvojournals.org)
Twenty-one different loci (BBS1-BBS21) have been associated with this syndrome. (springer.com)
The term Bardet-Biedl is applied to a clinically and genetically diverse group of disorders, of which at least 21 entities (BBS1-BBS21) are recognized. (arizona.edu)
2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (malacards.org)
6 Beales PL, Badano JL, Ross AJ et al: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (neocyst.de)
7 Badano JL, Kim JC, Hoskins BE et al: Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. (neocyst.de)
We conclude that BBS1 is the major locus among white Bardet-Biedl patients and that BBS3 is extremely rare. (ox.ac.uk)
Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. (ac.ir)
Natural history study of visual function in patients with BBS1 and BBS10-related Bardet-Biedl syndrome. (arvojournals.org)
We recently identified BBS1, the gene most commonly involved in Bardet-Biedl syndrome. (elsevier.com)
Bardet-Biedl Syndrome 1 (BBS1) tests available. (bcm.edu)
Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1-7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7). (duke.edu)

One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. (nih.gov)
We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 ( BBS10 ) gene. (nature.com)
Introduction Obesity is a consistent presenting feature of the Bardet-Biedl syndrome (BBS), a hereditary disorder caused by a single gene defect. (theactigraph.com)
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. (mybiosource.com)
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. (mybiosource.com)
An important gene associated with Bardet-Biedl Syndrome 11 is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane . (malacards.org)
12 A Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33. (malacards.org)
An important gene associated with Bardet-Biedl Syndrome 6 is MKKS (McKusick-Kaufman Syndrome), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane . (malacards.org)
12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. (malacards.org)
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53). (genomicsengland.co.uk)
gene: BBS4 was added gene: BBS4 was added to Bardet Biedl syndrome. (genomicsengland.co.uk)
Bardet-Biedl syndrome 17 (sequence analysis of LZTFL1 gene). (mendelian.co)
As the syndrome is rare (1 in 125,000 - see earlier), a gene carrier is unlikely to have affected children unless their partner is also a carrier. (bardetbiedlaustralia.org)
More than 35 mutations in the BBS10 gene have been found to cause Bardet-Biedl syndrome. (nih.gov)
Researchers are studying how mutations in the BBS10 gene lead to the specific features of Bardet-Biedl syndrome. (nih.gov)
Defects in this gene are a cause of Bardet-Biedl syndrome type 12. (nih.gov)
Mutations in this gene cause Bardet-Biedl syndrome type 10. (genecards.org)
BBS10 (Bardet-Biedl Syndrome 10) is a Protein Coding gene. (genecards.org)
The typical characteristics of Baller Gerold syndrome often overlap with those of another disorder, the Rothmund Thomson syndrome which has led scientists to conclude that it is the same gene or group of Friedrich Baller in 1950 and M. Gerold in 1959 reported this syndrome was reported in the German medical literature. (skinsheen.com)
Some people may receive only one defective gene from either of the two parents, in which case they will not suffer from this syndrome. (skinsheen.com)
Mutations of an additional gene, CHD7, which has been associated with CHARGE syndrome , has also been found in patients with normosmic or anosmic hypogonadotropic hypogonadism. (medscape.com)
BBS6 is caused by mutations in the MKKS gene ( 8 , 9 ), mutations in which also cause McKusick-Kaufman syndrome (MKKS) ( 17 , 18 ). (pnas.org)
Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and cognitive impairment. (duke.edu)
Mutations in ciliary gene are known to cause single organ phenotypes, as well as complex syndromes. (blueprintgenetics.com)

Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). (medlineplus.gov)
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. (genome.jp)
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (genome.jp)
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. (genome.jp)
[1] Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive . (nih.gov)
Mutations in PNPLA6 have been found in some individuals with a form of Bardet-Biedl syndrome as well as in Boucher-Neuhauser Syndrome ( 215470 ) also known as Chorioretinopathy, Ataxia, Hypogonadism Syndrome , and Trichomegaly Plus Syndrome ( 275400 ), in this database. (arizona.edu)
However, one of the genetic mutations that cause BBS has also been found in individuals with Laurence-Moon syndrome, which illustrates the difficulty in distinguishing the two. (nutritionhouse.com)
Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. (northwestern.edu)
Using whole exome sequencing in three families, we identified mutations in Intraflagellar Transport 172 Homolog [IFT172 (Chlamydomonas)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome. (harvard.edu)
It has recently been reported that mutations in IFT172 cause a severe ciliopathy syndrome involving skeletal, renal, hepatic and retinal abnormalities (Jeune and Mainzer-Saldino syndromes). (harvard.edu)
Kallmann syndrome (anosmic hypogonadotropic hypogonadism) has been associated with mutations in KAL1, FGFR1, FGF8, PROK2, and PROKR2 genes. (medscape.com)
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. (duke.edu)

Vision loss is one of the major features of Bardet-Biedl syndrome. (medlineplus.gov)
Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. (medlineplus.gov)
Researchers believe that defective cilia are responsible for most of the features of Bardet-Biedl syndrome. (medlineplus.gov)
Researchers believe that defective cilia are responsible for most of the features of Bardet-Biedl syndrome, including vision loss, obesity, the presence of extra fingers and/or toes (polydactyly), kidney abnormalities, and intellectual disability. (nih.gov)
3 Other clinical features of Bardet-Biedl syndrome reported such as impaired speech, delayed development of motor skills, behavioral abnormalities such as immatured emotional and inappropriate outbursts and poor coordination. (fulltxt.org)

Diseases associated with BBS10 include Bardet-Biedl Syndrome 10 and Bardet-Biedl Syndrome . (genecards.org)

The inheritance of Bardet-Biedl syndrome is autosomal recessive. (news-medical.net)
Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. (springer.com)
Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. (malacards.org)
4 Katsanis N, Ansley SJ, Badano JL et al: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (neocyst.de)
Bardet-Biedl syndrome [BBS, Online Mendelian Inheritance in Man (OMIM) 209900] is a genetically heterogeneous disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, learning disabilities, and hypogenitalism ( 1 - 3 ). (pnas.org)

Bardet-Biedl syndrome is a disorder that affects many parts of the body. (medlineplus.gov)
In about 25 percent of people with Bardet-Biedl syndrome, the cause of the disorder is unknown. (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)
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. (nih.gov)
Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six known loci. (nih.gov)
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. (genome.jp)
Bardet-Biedl syndrome (BBS) is a rare genetic disorder present from birth that affects many parts of the body. (marshfieldclinic.org)
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and cardiovascular disease. (jci.org)
An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. (thefreedictionary.com)
Bardet-Biedl syndrome is clinically similar to Biemond syndrome ( 210350 ) except for iris colobomas that occur in the latter disorder. (arizona.edu)
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. (jcdr.net)
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. (mybiosource.com)
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. (cureus.com)
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder associated with five fundamental characteristics including retinitis pigmentosa, polydactyly, obesity, and hypogonadism and mental retardation. (cureus.com)
Bardet-Biedl syndrome is a very rare autosomal-recessive disorder with pan-systemic effects. (ndsl.kr)
Bardet Biedl Syndrome (BBS) is a complex disorder caused by cilia, the hair-like structures in many cells, malfunction. (drackresearch.com)
Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects many areas of the body, primarily the eyes, hands, feet, genitals, and kidneys. (nutritionhouse.com)
We don't have a description for this disease, disorder, or syndrome yet. (rareguru.com)
Do you have information about a disease, disorder, or syndrome? (rareguru.com)
The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. (ac.ir)
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder where all patients have early, progressive photoreceptor degeneration. (arvojournals.org)
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. (noninvasiveicp.com)
As the syndrome causes irreversible intellectual retardation, medical research is more focussed on finding the cause of this disorder and preventing it. (skinsheen.com)
Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. (elsevier.com)
Laurence-Moon-Bardet-Biedl (LMBB) syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia and short stature. (fulltxt.org)
Bardet-Biedl syndrome (BBS) is a heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, hypogenitalism, and an increased incidence of diabetes and hypertension. (pnas.org)
These disorders are: Rokitansky-Mayer-Küster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be absent or underdeveloped. (wikipedia.org)
Bardet-Biedl syndrome (BBS) is a cliopathic human genetic disorder that can affect various parts of the body. (wikipedia.org)
Fraser syndrome is a disorder that affects the development of the child prior to birth. (wikipedia.org)
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. (elsevier.com)

Obesity is another characteristic feature of Bardet-Biedl syndrome. (medlineplus.gov)
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 a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. (hindawi.com)
Bardet-Biedl syndrome (BBS) is a genetic syndrome with autosomal recessive transfer, characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. (hindawi.com)
Bardet-Biedl syndrome (BBS) is clinically diagnosed by the presence of at least four of the following signs: retinal dystrophy, polydactyly, obesity, learning disabilities, male hypogonadism, and renal anomalies ( 1 ). (pnas.org)
Background Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy that displays retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities as primary clinical features. (bmj.com)
Bardet-Biedl syndrome (BBS) refers to a group of disorders characterized by obesity, early-onset severe retinal degeneration, polydactyly, renal and gonadal anomalies, anosmia, and cognitive disabilities. (arvojournals.org)
76 Bardet-Biedl syndrome 11: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. (malacards.org)
The Invitae Bardet-Biedl syndrome Panel analyzes 16 genes that are associated with Bardet-Biedl syndrome ( BBS ), which is characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities. (invitae.com)
Bardet-Biedl syndrome ( BBS ) is a genetically heterogeneous ciliopathy characterized by childhood-onset of multi-systemic manifestations including obesity, rod-cone dystrophy, polydactyly, situs inversus or heterotaxy, kidney dysfunction, and cognitive impairment. (invitae.com)
Bardet-Biedl syndrome (BBS) clinically presents with retinal degeneration, limb abnormalities (polydactyly, brachydactyly), obesity (hyperphagia), developmental delay, reproductive anomalies and renal/ urinary tract abnormalities that may lead to renal failure as cardinal features. (neocyst.de)
8 Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones. (neocyst.de)
All three syndromes are characterized by progressive blindness, obesity and learning disabilities. (fulltxt.org)
Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity. (wikipedia.org)

Defects of TTC8, which encodes a protein that is part of the BBSome complex and required for ciliogenesis, cause Bardet-Biedl syndrome type 8. (thefreedictionary.com)
Defects of MKS1, which encodes a protein that localises to the basal body and is required for forming the primary cilia in ciliated epithelial cells, cause Bardet-Biedl syndrome type 13. (thefreedictionary.com)

There are several genetic disorders that may be associated with Bardet-Biedl syndrome. (news-medical.net)
Commonly other cilia related disorders may be associated with this syndrome. (news-medical.net)
It is now generally considered that Bardet-Biedl syndrome and Laurence-Moon syndrome (see Related Disorders) are distinct conditions. (rarediseases.org)
Complications of Bardet-Biedl syndrome, type 7 are secondary conditions, symptoms, or other disorders that are caused by Bardet-Biedl syndrome, type 7. (rightdiagnosis.com)
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. (ac.ir)
Bardet-Biedl syndrome is a member of a class of disorders called ciliopathies. (invitae.com)
The disorders that are usually coupled with a female who has vaginal atresia are Rokitansky-Mayer- Küster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome. (wikipedia.org)
medical citation needed] As previously mentioned, there are other disorders or syndromes that are found in conjunction with individuals living with vaginal atresia. (wikipedia.org)
This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. (wiley.com)

The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is the largest worldwide registry examining the long-term health of individuals with BBS. (marshfieldclinic.org)
The overlapping phenotypes among ciliopathies, in addition to the high intrafamilial and interfamilial variability in clinical presentation, further complicate the diagnosis of this syndrome. (bmj.com)
The syndromes exhibit clinical overlap: all can cause blindness, deafness, and diabetes mellitus or impaired glucose tolerance. (biomedcentral.com)
This test is appropriate for determining the molecular cause of disease in individuals with a clinical diagnosis or differential diagnosis of Bardet-Biedl syndrome ( BBS ) or in whom the diagnosis is suspected. (invitae.com)
Following clinical presentations are often rare to present with this syndrome. (cureus.com)
2 Moore SJ, Green JS, Fan Y et al: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. (neocyst.de)
This panel of 26 genes intended for patients with a diagnosis or clinical suspicion of Bardet-Biedl Syndrome and is performed by next generation sequencing. (isinproduction.com)
The diagnosis of Bardet- Biedl syndrome is established by clinical findings. (ac.ir)
The clinical signs of this condition vary among affected person, most person with Bardet-Biedl syndrome also develop a blurred central vision. (fulltxt.org)
Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline. (medscape.com)
Is ideal for patients with a clinical suspicion of Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, nephronophthisis with or without retinal dystrophy, or complex ciliopathy phenotype. (blueprintgenetics.com)
Objective To Summarize and review the clinical data of two Bardet-Biedl syndrome (BBS) children so as to improve our understanding of the disease . (bvsalud.org)
Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. (wiley.com)

Wolfram syndrome (OMIM 222300) is characterized by young onset diabetes and bilateral optic atrophy. (biomedcentral.com)

Etemadi K, Khazaii M R. A Case of Bardet-Biedl Syndrome. (ac.ir)

In at least some forms of this syndrome, the cause seems to be a defect in the cilia that impairs the intraciliary protein transport between the inner and outer segments of the photoreceptors. (arizona.edu)

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. (genome.jp)
Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. (hindawi.com)
3. Garber SJ, De bruyn R. Laurence-Moon-Biedl syndrome: renal ultrasound appearances in the neonate. (radiopaedia.org)
5. Ritchie G, Jequier S, Lussier-lazaroff J. Prenatal renal ultrasound of Laurence-Moon-Biedl syndrome. (radiopaedia.org)
Bardet-Biedl Syndrome with End Stage Renal Disease', Iranian Journal of Medical Sciences , 41(6), pp. 539-542. (ac.ir)
1 , 2 Many individuals with Bardet-Biedl syndrome also have reported with renal abnormalities, which can be serious or life-threatening. (fulltxt.org)
We studied the renal phenotype in 33 patients diagnosed with Bardet-Biedl Syndrome (BBS) and found renal abnormalities to be present in 82% of patients (27/33). (biomedcentral.com)

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. (invitae.com)
1 Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. (neocyst.de)
Since then this blog has become a way to share photography, crafting ideas, recipes, and parenting ideas, to promote the joy of motherhood, and has been a huge comfort as we have dealt with various issues involving Two of my children's diagnosis of Bardet-Biedl Syndrome. (blogspot.com)

Several reports have elucidated the mechanisms by which disruption of BBS proteins give rise to the individual phenotypes seen in this highly pleiotropic syndrome ( 8 - 11 ). (pnas.org)
The phenotypes observed frequently overlapped with Alström syndrome and, in the case of chaperonin-like genes, McKusick-Kauffman syndrome overlapping was detected. (bmj.com)
Ciliopathies have a broad range of phenotypes encompassing a number of different autosomal recessive, dominant and X-linked syndromes. (blueprintgenetics.com)

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)
Patients with Bardet-Biedl syndrome (BBS) experience severe retinal degeneration as a result of impaired photoreceptor transport processes that are not yet fully understood. (pnas.org)

Bardet-Biedl Syndrome is a genetically inherited condition. (news-medical.net)
Both syndromes are genetically inherited and are AR. (cureus.com)

We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. (jcdr.net)

These defective cilia are the basic pathology of Bardet-Biedl syndrome. (news-medical.net)
Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. (regionh.dk)

McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also inherited in an autosomal recessive manner. (nih.gov)

The eye conditions I have as a result of this syndrome are nystagmus, cataracts and retinitis pigmentosa. (rnib.org.uk)

A discussion of the serious ocular manifestations, decreased visual functions and visual prognosis for patients with Bardet-Biedl syndrome by reviewing the case of a 14-year-old Hispanic female diagnosed with this rare condition. (aaopt.org)
Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome. (jcdr.net)
Connect with other caregivers and patients with Bardet-Biedl syndrome 11 and get the support you need. (rareguru.com)
Evaluation of hypothalamo-pituitary-gonadal axis in patients of Bardet-Biedl syndrome. (bvsalud.org)
This case study is first to report maturity-onset diabetes of the young (MODY) in Laurence-Moon-Bardet-Biedl syndrome among two south Indian patients. (fulltxt.org)
5 Type II diabetes reported in patients with LMBB Syndrome, however not reported distinct as MODY. (fulltxt.org)
Effects of erythropoiesis-stimulating agents on overall survival of International Prognostic Scoring System Low/Intermediate-1 risk, transfusion-independent myelodysplastic syndrome patients: a cohort study. (nih.gov)

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. (genome.jp)
Bardet Biedl Syndrome (BBS) is an inherited recessive ciliopathy affecting Hungarian Puli. (laboklin.co.uk)

The syndromes of Bardet-Biedl are inherited in an autosomal recessive pattern. (arizona.edu)

citation needed] The syndrome is named after Georges Bardet and Arthur Biedl. (wikipedia.org)

Bardet-Biedl Syndrome Sequencing Panel with CNV Detection. (mendelian.co)

Haws RM, Kretz AD, Stankowski RV, Steiner RD. Bardet-Biedl syndrome: A model for translational research in rare disease. (clinicaltrials.gov)
Bardet-Biedl Syndrome 6, also known as bbs6 , is related to heart disease and bardet-biedl syndrome 19 . (malacards.org)
Targeted drug design has been successful in the treatment of genetic disease and research is underway in the discovery of known and novel drugs to treat Bardet-Biedl syndrome. (cdc.gov)

Other distinctive features are facial and dental abnormalities, unusual short or fused fingers or toes and loss of the sense of smell have been reported in some cases with Bardet-Biedl syndrome. (fulltxt.org)

Laurence-Moon syndrome ( 245800 ) is considered part of the Bardet-Biedl group of diseases in this database. (arizona.edu)
Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. (biomedcentral.com)

We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. (duke.edu)

The additional genetic changes could help explain the variability in the signs and symptoms of Bardet-Biedl syndrome. (medlineplus.gov)
These additional changes of genes along with the original changes in the genes are responsible for the variations of signs and symptoms of Bardet-Biedl syndrome. (news-medical.net)
See also the symptoms of Bardet-Biedl syndrome, type 7 and Bardet-Biedl syndrome, type 7: Introduction . (rightdiagnosis.com)
In many cases the distinction between symptoms of Bardet-Biedl syndrome, type 7 and complications of Bardet-Biedl syndrome, type 7 is unclear or arbitrary. (rightdiagnosis.com)
More detailed information about the symptoms , causes , and treatments of Bardet-Biedl Syndrome is available below. (rightdiagnosis.com)
A variety of symptoms can occur in post-concussion syndrome . (rightdiagnosis.com)
Despite many obvious symptoms, the syndrome continues to remain an underdiagnosed condition. (cureus.com)
A monogenic syndrome such as Bardet Biedl has a lot of symptoms. (ac.ir)
In case of progeny of 2 carriers of Baller Gerold syndrome, there is a 25 per cent chance that a child will inherit 2 defective genes from the parents and exhibit symptoms of this syndrome. (skinsheen.com)

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). (genome.jp)

Bardet-Biedl syndrome (BBS) , previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. (radiopaedia.org)

Baller Gerold Syndrome is an extremely rare congenital defect occurring in 1 in a million live births. (skinsheen.com)

At least 14 different genes have been identified that may be mutated or altered in individuals with this syndrome. (news-medical.net)
There are 14 different genes that may be altered or mutated in individuals with Bardet-Biedl syndrome. (news-medical.net)
We conclude that the different genes responsible for Bardet-Biedl syndrome may influence growth characteristics such as height. (ox.ac.uk)

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. (genome.jp)

A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an ""unparalleled collection of knowledge. (wiley.com)

Anatomy4

Organisms3

Diseases190

Chemicals and Drugs6

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Psychiatry and Psychology9

Phenomena and Processes22

Information Science6

Named Groups1

Health Care15

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)

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

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

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

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)

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

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

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

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