Syndrome: A characteristic symptom complex.Down Syndrome: 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)Metabolic Syndrome X: 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)Nephrotic Syndrome: 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.Sjogren's Syndrome: 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.Turner Syndrome: 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.Abnormalities, MultipleMyelodysplastic Syndromes: 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.Cushing Syndrome: 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.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.Polycystic Ovary Syndrome: 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.Williams Syndrome: 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.DiGeorge Syndrome: 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.Horner Syndrome: 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)Prader-Willi Syndrome: 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)Long QT Syndrome: 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.Guillain-Barre 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)Hemolytic-Uremic Syndrome: 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.Compartment Syndromes: 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.Tourette Syndrome: 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)Antiphospholipid Syndrome: 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).Porcine Reproductive and Respiratory Syndrome: 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)Klinefelter Syndrome: 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.).Carpal Tunnel Syndrome: 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)Werner Syndrome: 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.Reye Syndrome: 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.Bartter Syndrome: 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.Porcine respiratory and reproductive syndrome virus: A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.HELLP Syndrome: 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.Bloom Syndrome: 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.Brugada Syndrome: 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.Ehlers-Danlos Syndrome: 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.Respiratory Distress Syndrome, Adult: 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.Angelman Syndrome: 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)Pedigree: 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.Severe Acute Respiratory Syndrome: 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.Restless Legs Syndrome: 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.Job Syndrome: 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.Wiskott-Aldrich Syndrome: 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.Mutation: 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.Paraneoplastic Syndromes: 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.Sweet Syndrome: 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.Acquired Immunodeficiency Syndrome: 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.Intellectual Disability: 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)Churg-Strauss Syndrome: 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.Sturge-Weber Syndrome: 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.Budd-Chiari Syndrome: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chediak-Higashi Syndrome: 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.Wolff-Parkinson-White Syndrome: 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.Facies: 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)Kallmann Syndrome: 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.Sick Sinus Syndrome: 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.Stevens-Johnson Syndrome: 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.Sezary Syndrome: 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).Felty Syndrome: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.Risk Factors: 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.Usher Syndromes: 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.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Alagille Syndrome: 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).Treatment Outcome: 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.Bardet-Biedl Syndrome: 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)ACTH Syndrome, Ectopic: Symptom complex due to ACTH production by non-pituitary neoplasms.Peutz-Jeghers Syndrome: 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.Hemorrhagic Fever with Renal Syndrome: 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.Oculocerebrorenal Syndrome: 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)Cockayne Syndrome: 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.Smith-Lemli-Opitz Syndrome: 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.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Wiskott-Aldrich Syndrome Protein: 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.Stiff-Person Syndrome: 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)Short Bowel Syndrome: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.Behcet Syndrome: 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.Infant, Newborn: An infant during the first month after birth.Zollinger-Ellison Syndrome: 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.Serotonin Syndrome: 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.Hepatopulmonary Syndrome: 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).Orofaciodigital Syndromes: 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.Proteus Syndrome: 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.Duane Retraction Syndrome: 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.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Complex Regional Pain Syndromes: 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)Goldenhar Syndrome: Mandibulofacial dysostosis with congenital eyelid dermoids.Respiratory Distress Syndrome, Newborn: 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.Neuroleptic Malignant Syndrome: 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)Costello Syndrome: 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).Klippel-Feil 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.Subclavian Steal Syndrome: 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)Hantavirus Pulmonary Syndrome: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Neoplastic Syndromes, Hereditary: 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.Fatal Outcome: 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.Thoracic Outlet Syndrome: 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).Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Retrospective Studies: 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.White spot syndrome virus 1: A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.LEOPARD Syndrome: 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.Case-Control Studies: 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.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Li-Fraumeni Syndrome: 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.Hamartoma Syndrome, Multiple: 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.Asperger Syndrome: 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)Mobius Syndrome: 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)Hepatorenal Syndrome: 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.Waardenburg Syndrome: 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.Systemic Inflammatory Response Syndrome: 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.Sleep Apnea Syndromes: 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.Adie Syndrome: 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)Follow-Up Studies: 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.Polyradiculoneuropathy: 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.Prospective Studies: 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.Ovarian Hyperstimulation Syndrome: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Prevalence: 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.Premenstrual Syndrome: 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.Miller Fisher Syndrome: 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)Capillary Leak Syndrome: 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.Korsakoff Syndrome: 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)Neurocutaneous Syndromes: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.Gitelman Syndrome: 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.Molecular Sequence Data: 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.Wolfram Syndrome: 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.Mutation, Missense: 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)Disease Models, Animal: 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.Acquired Hyperostosis Syndrome: 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.CREST 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.Wasting 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.Superior Vena Cava Syndrome: 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.SARS Virus: 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Munchausen Syndrome: 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.Myasthenic Syndromes, Congenital: 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)Consanguinity: The magnitude of INBREEDING in humans.Poland Syndrome: A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.Magnetic Resonance Imaging: 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.Biological Markers: 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.Alstrom Syndrome: 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.Rubinstein-Taybi Syndrome: 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).Sudden Infant Death: 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)Hypoplastic Left Heart Syndrome: 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.Romano-Ward Syndrome: 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.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Syndactyly: 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.Microcephaly: 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.)Rothmund-Thomson Syndrome: 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.Dwarfism: 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.Acute Disease: Disease having a short and relatively severe course.Burning Mouth Syndrome: 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.Electrocardiography: 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.Insulin Resistance: 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.Chromosome Deletion: Actual loss of portion of a chromosome.Hypertelorism: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.Lambert-Eaton Myasthenic Syndrome: 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)Zellweger Syndrome: 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.Tumor Lysis Syndrome: 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.Malignant Carcinoid Syndrome: 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)Karyotyping: Mapping of the KARYOTYPE of a cell.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Ectodermal Dysplasia: 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.Obesity: 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).WAGR Syndrome: 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.Smith-Magenis Syndrome: 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.Acrocephalosyndactylia: Congenital craniostenosis with syndactyly.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Sneddon Syndrome: 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, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.Kearns-Sayre Syndrome: 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)Cri-du-Chat Syndrome: 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-).Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Malabsorption Syndromes: General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.Cardio-Renal Syndrome: 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).Barth Syndrome: 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.Micrognathism: Abnormally small jaw.Craniosynostoses: 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.Gardner Syndrome: 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.Cogan Syndrome: A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.Bernard-Soulier Syndrome: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.Euthyroid Sick Syndromes: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.CHARGE Syndrome: 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.Cohort Studies: 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.Methyl-CpG-Binding Protein 2: 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.Nerve Compression Syndromes: 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.Branchio-Oto-Renal Syndrome: 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)Sotos Syndrome: 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.Pigmentation DisordersGenetic Testing: 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.Staphylococcal Scalded Skin Syndrome: 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.RecQ Helicases: 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.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Chromosome Disorders: 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)Ellis-Van Creveld Syndrome: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)Prognosis: 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.Brain: 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.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Mosaicism: 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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Authors: Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.. Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis ...
Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.
Purpose: Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive inherited disorder with clinical features that include retinal degeneration, obesity and developmental anomalies. At least 17 BBS genes have been reported. Seven BBS proteins form a molecular complex known as the BBSome, and three additional BBS proteins form a second complex known as the BBS chaperone complex, which is required for BBSome assembly. Studies suggest that mutation of a novel centrosomal protein, CEP290, results in BBS and other ciliopathies. The purpose of the current study is to characterize physical and genetic interactions between CEP290 and other BBS genes, and determine whether these interactions likely contribute to BBS-like symptoms using mouse models.. Methods: We evaluated the physical interaction between CEP290 and other BBS proteins by immunoprecipitation and tested whether this interaction is required for the correct cocalization of CEP290 using immunofluorescence microscopy. To determine ...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for approximately 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of
An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature.
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Do You Have Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity? Join friendly people sharing true stories in the I Have Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microceph...
With the electrods placed at retina tissue the vision cortex of brain is stimulated.This is called bionic eye. First experiments started with 16 electrodes than the number of electrodes were increased to 60.There is a hope that if the number of electrods will be increased to 80 vision might get better either.. Except the system placed in the eye,with the help of a video camera put into the glasses images are taken and are moved with a cable to the electrods. It is reported that this camera system can only be used in hospitals,its not possible yet to use it outside. When the patient with bionic eye has to make rapid head movements the eye can perceive the new image only 10-15 minutes later.Briefly,the adaptation process takes too long.. 4- What type of vision can provide bionic eye? ...
Misdiagnosis of Mental retardation - epileptic seizures - hypogonadism - hypogenitalism -microcephaly - obesity including hidden diseases, diagnosis mistakes, alternative diagnoses, differential diagnoses, and misdiagnosis.
A major focus of the lab is the study of the primary cilium, a once-obscure cellular organelle that has recently been "re-discovered" for its role in a number of signaling pathways (Hedgehog, Planar Cell Polarity, PDGF,..). Most fascinatingly, molecular defects in cilium biogenesis lead to a variety hereditary disorders (so-called "ciliopathies") characterized by retinal degeneration, kidney cysts, obesity, polydactyly, randomization of left-right asymmetry, etc. Our goal is to characterize these ciliopathies at the molecular and cellular levels using state-of-the art proteomics and microscopy. Our approach has already proven successful in the case of Bardet-Biedl Syndrome (see figure) and led to the discovery of a protein complex involved in vesicular transport to the primary cilium. ,nonwikionly,,a href="http://www.openwetware.org",,img src="http://openwetware.org/images/9/96/02_JoinOpenWetWare.png" border=0/,,/a,,/nonwikionly, ...
Bardet Biedl Syndrome (BBS) is a complex disorder caused by cilia, the hair-like structures in many cells, malfunction. People with BBS may have extra fingers and toes, kidney failure, learning or developmental differences, obesity which is due to never feeling full or sated, and a progressive type of retinitis pigmentosa that starts in early childhood. There are at least 20 different genes that can cause BBS. Because vision loss is progressive in this condition, children should be monitored closely to be sure their teachers and friends know what they are seeing and when they might need accommodations. There is a lot of research going on in the Drack Research lab and the WIVR into why people with BBS lose vision and how to slow, prevent or restore it.. Genereviews: Bardet-Biedl Syndrome ...
Researchers at the Johns Hopkins Medical Center in Baltimore, Md, experimented with both humans and animals and isolated the BBS4 protein, which has an indirect link to obesity.A genetic mutation in the BBS4 gene causes what is known as Bardet-Biedl syndrome?a syndrome that can cause obesity, learning disabilities, eye and kidney problems, and disruption in the bodys cell transport, which can result in cell death. Under normal circumstances, this protein transports molecules that guide the action of the cells internal transport system, which moves other proteins, cellular packages, and chromosomes. When the BBS4 gene is mutated, or not working properly, cell division stops and the cell dies. The way this particular protein affects obesity will require further study. ...
Cilia are antenna-like membrane-associated structures which play essential roles during development, and during the normal function of many cells throughout the body. Dysfunction of these organelles can lead to serious illnesses, involving deafness and blindness, as well as life-threatening complications such as kidney and liver disease, diabetes, respiratory problems, and obesity. These so-called "ciliopathies" are usually genetically inherited, and at present there are few, if any cures.. Following collaborations with Phil Beales (Institute of Child Health, UCL) on Bardet-Biedl Syndrome, and with Jan Marshall (Jackson Labs, USA) on Alström Syndrome, we are continuing to work in the field of human ciliary diseases. In collaboration with Colin Johnson (University of Leeds) we more recently characterized the role of the Meckel-Gruber Syndrome protein TMEM67 in the development of the cochlea.. In related public engagement projects I have worked with patient support groups such as Alström ...
Primary cilia, once considered vestigial organelles are now revealing themselves as crucial cellular components for cellular signalling and are capable of sensing their enivronment. A number of developmental pathways including Hedgehog and Wnt signalling require an intact cilium. Dysfunction of this signalling process can result in diseases of the retina, kidney, endocrine system, skeleton and nervous system. Many long described syndromes are now being ascribed to cilia pathogenetic lesions are are grouped as the ciliopathies. Many of these syndromes manifest cognitive impairment as well as disordered peripheral nervous system and sensory reception. We have been focussing on several of these diseaes and one in particular, Bardet-Biedl syndrome has been informing us of novel roles for the primary cilium. For example by generating animal models we have determined there are defects in olfactory responses, nociception, satiety (leading to gross obesity) and mental retardation. One of our key goals ...
MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from birth and is likely the result of both healthy parents passing on a defective gene, associated with MORM syndrome, to their offspring. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The term MORM is used to describe the characteristics associated with the disorder which include mental retardation, truncal obesity, retinal dystrophy, and micropenis". The disorder shares similar characteristics with Bardet-Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic ...
Katsanis N et. al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.. [^] ...
Retinitis pigmentosa (RP) is a disease that leads to degeneration of the rods and cones of the retina; it is one of the leading causes of inherited blindness.. Symptoms may appear at adolescence, but severe vision problems do not normally occur before early adulthood. In the early stages of the disease, people with RP experience loss of night vision and more difficulty seeing in low-light conditions. As the disease progresses, RP sufferers begin to lose peripheral vision and develop tunnel vision. In the most advanced stages, a person with RP may become completely blind.. Other forms of RP and related diseases include Usher syndrome, Lebers congenital amaurosis, rod-cone disease, and Bardet-Biedl syndrome, among others.. ...
Keira Jones-McCarthy was born with a swollen abdomen, two additional fingers and bladder problems before being diagnosed with Bardet-Biedl Syndrome
In the clinic, fundoscopic examination of the eyes should be performed through dilated pupils as well as blood pressure measurement and urinalysis for glucose, protein and leukocytes. Baseline investigations should include ERG/VER, ECG, echocardiogram, ultrasound of the kidneys and urinary tract and either an IVP or DMSA/DPTA scan. The child should be evaluated by cardiology, ophthalmology, urology, nephrology, genetics, speech, endocrinology, and orthopedics. It is not possible to cure this condition, but regular follow-up for symptoms can improve quality of life ...
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.. [^] ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
Free Online BBA BBS BCA Preparation Test and Practice Sets & Study Materials Includes Questions on C/C++,Operating Systems,Computer Science & Basic Tests, MS Words 2007 Featured Tests Latest Tests - Page 1
Day 14 I just wanted to pop in real quick because Im so ****ing happy!!! Im up 9 pounds since the start of this cycle! Weighed in 164, started at
Whether it looks like a random plan or not, understand that those people had chosen, in their life plan, to undergo the situation. 无论它看着像一个随机的计划或者不是,理解这些人的选择,在他们的生命计划中,状况的经历。 bbs.awaker.net ...
Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Eyes: Pigmentary retinopathy, poor visual acuity, low vision, and/or blindness caused by an impaired photoreceptor transport mechanism in the retina. Nose: Loss of, or reduced sense of, smell (anosmia). Some patients claim extra-sensitive sense of smell. Hand and foot: Polydactyly (extra digits) or syndactyly (webbing of fingers and toes). Cardiovascular system: Hypertrophy of interventricular septum and left ventricle and dilated cardiomyopathy. Gastrointestinal system: Fibrosis. Urogenital system: Hypogonadism, renal failure, ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
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Many syndromes feature pigmentary retinal changes consistent with RP. In fact, some of the genes known to be mutated in these syndromes can be mutated in patients with isolated RP. For example, BBS3 and BBS9 are linked to Bardet-Biedl syndrome (BBS) which is characterized by RP, obesity, polydactyly, renal malformation, and hypogenitalism, but were also found to be mutated in patients with nonsyndromic RP. Other syndromes known to manifest with RP or RP-like lesions include Usher syndrome, Cohen syndrome, Cockayne syndrome, Refsum syndrome, neuronal ceroid lipofuscinosis, and abetalipoproteinemia. ...
Symptoms of the following disorders can be similar to those of Froelich syndrome. Comparisons may be useful for a differential diagnosis:. Prader Willi syndrome is a complex disorder affecting many systems in the body. It is diagnosed more often in males born after a prolonged, delayed birth often in the breech position and is characterized by muscular weakness and failure to thrive during infancy. As the child grows there is a decrease in the function of the testes or ovaries (hypogonadism), short stature, and impaired intellectual capabilities. The need to eat an extraordinary amount of food (hyperphagia) usually develops between 1 and 3 years of age. If left uncontrolled, the obesity of Prader Willi syndrome can lead to life- threatening heart and lung complications. (For more information on this disorder, choose "Prader Willi" as your search term in the Rare Disease Database.). Bardet-Biedl syndrome is a rare disorder affecting many systems in the body. It is inherited as an autosomal ...
Keywords: Inherited eye disease, Bardet-Biedl Syndrome, X-linked retinitis pigmentosa (RP), Incontinentia pigmenta, Familial exudative vitreoretinopathy (FEVR) ...
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011 ...
With the electrods placed at retina tissue the vision cortex of brain is stimulated.This is called bionic eye. First experiments started with 16 electrodes than the number of electrodes were increased to 60.There is a hope that if the number of electrods will be increased to 80 vision might get better either.. Except the system placed in the eye,with the help of a video camera put into the glasses images are taken and are moved with a cable to the electrods. It is reported that this camera system can only be used in hospitals,its not possible yet to use it outside. When the patient with bionic eye has to make rapid head movements the eye can perceive the new image only 10-15 minutes later.Briefly,the adaptation process takes too long.. 4- What type of vision can provide bionic eye? ...
Eesti Teadusinfosüsteem koondab informatsiooni teadus- ja arendusasutuste, teadlaste, teadusprojektide ning erinevate teadustegevuste tulemuste kohta.
Perception of what is occurring around us relies extensively on our senses, such as vision, smell and touch. Among these, vision attracts remarkable attention. The abilit..
Virology Highlights features highlighted articles published in Virology, with posts summarizing the research in the authors words.
A mutation in the tub gene causes maturity-onset obesity, insulin resistance, and sensory deficits. In contrast to the rapid juvenile-onset weight gain seen in diabetes (db) and obese (ob) mice, obesity in tubby mice develops gradually, and strongly resembles the late-onset obesity seen in the human population. Excessive deposition of adipose tissue eventually leads to a twofold increase of body weight. Tubby mice also suffer retinal degeneration and neurosensory hearing loss. The tripartite character of the tubby phenotype shows striking similarity to human obesity syndromes, such as Alstrom and Bardet-Biedl. Here we report the identification of a G --| T transversion in a candidate gene that abolishes a donor splice site in the 3 coding region and results in a larger transcript containing the unspliced intron. This alteration is predicted to replace the 44-carboxyterminal amino acids with a 20-amino-acid sequence not found in the wide-type protein. Additionally, a second, prematurely
Intraflagellar transport (IFT) is essential for assembly and maintenance of cilia and flagella as well as ciliary motility and signaling. IFT is mediated by multisubunit complexes, including IFT-A, IFT-B, and the BBSome, in concert with kinesin and dynein motors. Under high salt conditions, purified IFT-B complex dissociates into a core subcomplex composed of at least nine subunits and at least five peripherally associated proteins. Using the visible immunoprecipitation assay, which we recently developed as a convenient protein-protein interaction assay, we determined the overall architecture of the IFT-B complex, which can be divided into core and peripheral subcomplexes composed of 10 and 6 subunits, respectively ...
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The BBS02 has been solid since I put it back together. Theres a bit of vibration which is due to my non-ideal chainline ( really need to drop to a lekkie to get the chainline going right ). In the interim, Ive built a non powered rigid 29er out of spare parts and someone elses failed build project. Paid AUD $300 for a mostly complete 29er bike with deore 2x10 ( all new ) but they couldnt get their shit working right. Built it up and am cruising the streets on that if Im not on the ebike. Turns out the guy used the 1mm spacer that comes with a 10 speed setup ( for fitting to a 9sp hub)... which you dont use on a hub designed for 10 speed... the 11t was slipping like a madman until I removed it.... Someone elses non google-fu is my benefit. The new rat bike came with a Mosso M5 fork which is a horrible peice of shit... even for a rigid fork... I have a carbon fork on the way while waiting for a deal on a good suspension fork. The Mosso M5 flexes like a bitch... do not buy. Ive done a day of ...
Buy our Recombinant Human BBS10 protein. Ab164093 is a full length protein produced in Wheat germ and has been validated in WB, ELISA. Abcam provides free…
Pro life: Well what would you expect from a generally progressive series? Oddly though, ST in general is pretty critical of most biological...
All this poll shows is that a large percentage of people dont listen to the questions they are asked. Thats a basic problem of streets surveys. You...
Nostalgic for the pre-Internet 80s? A former teen BBS-junkie attempts to archive the evanescent history of digital culture on the Web. By Joe Nickell.
From UniProt:. Nephronophthisis 4 (NPHP4): An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. [MIM:606966]. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among ...
in San Diego. There were thousands of attendees, including many of our funded investigators as well as a few of us from NIGMS. As a new program director, I enjoyed meeting many of the grantees and applicants Ive talked to on the phone or by e-mail. I met a few others, too, who stopped by the NIGMS booth to get information on funding opportunities.. I cant even begin to come up with an exhaustive list of all highlights from the 5-day program, so I will share just a few.. I was most excited about how discoveries made using "simple" organisms, such as yeast and unicellular algae, are informing models of human disease in new ways. For example, studies of centriole biogenesis and cilia formation in invertebrates have provided a mechanistic understanding of human ciliopathic disorders such as Bardet-Biedl syndrome. Interestingly, the relationship between human disorders and basic research is a two-way street: By doing a genetic analysis of plant and invertebrate orthologs of genes mutated in people ...
Examples:. You consult the SCCo Packet Tactical Calls bulletin and determine that the primary and secondary BBSs used to receive SCCo Packet Net Check-ins are W2XSC and W4XSC, respectively.. Example 1: It is the first Monday or Tuesday of the month. Your primary BBS is W1XSC. Therefore, your BBS is simulated down and you cant use it to send a message. The recipients BBS (W2XSC) is unaffected. So, you connect to your assigned secondary BBS to send your message to [email protected] or [email protected] Example 2: It is the second Monday or Tuesday of the month. Your primary BBS is (W1XSC) is unaffected. The recipients BBS (W2XSC) is simulated down so it cannot be used to receive check-ins. Therefore, check-ins will be received on the secondary check-in BBS (W4XSC). So, you connect to your assigned primary BBS and send your message to [email protected] or [email protected] Example 3: Is is the second Monday or Tuesday of the month. Your primary BBS is W2XSC. So your BBS is simulated down. The recipients ...
BBS6 antibody Rabbit Polyclonal from Proteintech validated in Western Blot (WB), Immunofluorescence (IF), Enzyme-linked Immunosorbent Assay (ELISA) applications. This antibody reacts with human,mouse,rat samples. Cat.No. 13078-1-AP.
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A kikelő növények többsége elpusztul. Az idősebb növényeken a leveleken, szárakon, a virágokon és a terméseken is nem különösebben nagy, többnyire szögletes (az érhálózattal behatárolt) foltok képződnek. Ezek eleinte vízzel átitatottak (olajosak), később viszont megsárgulnak és kiszáradnak ...
is if a "morning erection" is still experienced. Feelings like fear, anger, distress and anxiety cause part of the nervous system to come into play which directly blocks the action of another part of the system involved in creating an erection. This is a natural reaction - our ancestors would find it more difficult to run from a predator with an erection in the way!. It is necessary to identify the causes of worry and try to remove these. They could include concern about …. ...
Dr. Keppler-Noreuils clinical and research interests include natural history and clinical characterization, genetic studies, and therapeutic interventions of somatic overgrowth disorders, including Proteus syndrome and PIK3CA-Related Overgrowth Spectrum (PROS), as well as other malformations and genetic disorders, including OEIS complex/cloacal exstrophy and Bardet-Biedl syndrome. Her studies of Proteus syndrome and PROS have included: descriptive analyses of craniofacial abnormalities, cardiac, risk for thromboembolism, prevalence and complications of vascular malformations and tumors.. Her work has included further delineation of the clinical findings and complications in PROS and Proteus syndrome, and the role of somatic mutations in the PI3K/AKT/mTOR pathway in these disorders and in tumorigenesis. As principal investigator and co-lead of the PIK3CA-Related Overgrowth Multinational Investigation of Sirolimus Efficacy (PROMISE), she has initiated the pilot treatment trial in collaboration ...
Assembly of primary cilia relies on vesicular trafficking towards the cilium base and intraflagellar transport (IFT) between the base and distal tip of the cilium. Recent studies have identified several key regulators of these processes, including Rab GTPases such as Rab8 and Rab11, the Rab8 guanine nucleotide exchange factor Rabin8, and the transport protein particle (TRAPP) components TRAPPC3, -C9, and -C10, which physically interact with each other and function together with Bardet Biedl syndrome (BBS) proteins in ciliary membrane biogenesis. However, despite recent advances, the exact molecular mechanisms by which these proteins interact and target to the basal body to promote ciliogenesis are not fully understood. We surveyed the human proteome for novel ASPM, SPD-2, Hydin (ASH) domain-containing proteins. We identified the TRAPP complex subunits TRAPPC8, -9, -10, -11, and -13 as novel ASH domain-containing proteins. In addition to a C-terminal ASH domain region, we predict that the N-terminus of
Ciliopathies | Scientific research info incl meetings, conferences, seminars, symposia,tradeshows,jobs,jobfairs, professional tips and more.
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Doron Rabin MD is a Neurosurgeon who practices in Phillipsburg, NJ. Get a full report about this doctors background by clicking here.
Hydrocephalus is a heterogeneous disorder with multiple etiologies that are not yet fully understood. Animal models have implicated dysfunctional cilia of the ependyma and choroid plexus in the development of the disorder. In this report, we sought to determine the origin of the ventriculomegaly in four Bardet Biedl syndrome (BBS) mutant mouse strains as models of a ciliopathy. Evans Blue dye was injected into the lateral ventricle of wild- type and BBS mutant mice to determine whether obstruction of intra- or extra-ventricular CSF flow contributed to ventriculomegaly. Transmission electron microscopy (TEM) was used to examine the ultrastructure of the choroid plexus, subfornical organ (SFO), subcommisural organ (SCO), and ventricular ependyma to evaluate their ultrastructure and the morphology of their primary and motile cilia. No obstruction of intra- or extra-ventricular CSF flow was observed, implying a communicating form of hydrocephalus in BBS mutant mice. TEM analyses of the mutants showed no
Nephronophthisis (NPHP), the most frequent genetic cause of renal failure in children, is an autosomal recessive cystic kidney disease in childhood or adolescence. The onset is typically marked by polydipsia and polyuria as a result of a defect in urine concentration. Additional findings include small-to-normal-sized hyperechogenic kidneys with reduced corticomedullary differentiation on abdominal ultrasonography and histopathological alterations characterized by thickened or disrupted tubular basement membranes, tubular atrophy and dilation, interstitial fibrosis and occasional renal cysts. NPHP can also present with additional extrarenal manifestations, including retinitis pigmentosa (Senior-Loken syndrome, Bardet-Biedl sydnrome, Alstrom syndrome), liver fibrosis, cerebellar vermis hypoplasia (Joubert syndrome), and multiple developmental and neurologic abnormalites (Meckel Gruber syndrome). Our Nephronophthisis Panel includes sequence analysis of the following 13 genes: NPHP1, INVS, NPHP3, ...
Patient Appears Acutely Ill & Renal Abnormalities Symptom Checker: Possible causes include Acute Cystitis & Urinary Tract Infection & Acute Bronchitis. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Professor Cai who publicly called for cancellation of the so-called Golden Week (week-long public holidays) in China found himself defamed and cursed by a large number of people on a BBS named after him. The furious Professor sued the BBS service provider, Baidu (one of the largest Internet company in China), for defamation. The first-instance court recently rendered the decision that Baidu was not the direct tortfeasor, neither did it knowing providing service to defame Prof. Cai. The court noted that Baidus act of taking timely measures to prevent the further spread of defamatory information after receiving valid notification from Prof. Cai was capable of proving its innocent. Interestingly, the court dismissed Prof. Cais claim for deleting the relevant BBS in the same name as him, because name of the BBS, per se, was not infringing and the people had the right to make comments on public issues or figures. However, the court ruled that Baidu must, within the capable of network technology, ...
Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Alstrm Syndrome UK With your help we have hope Summer 2012 Issue 10 www.alstrom.org.uk Rare, but stronger together... Rare Disease Day, February 29 was celebrated across the world by a joining of
Talk Show Episode, Audio Podcast, Straight_from_the_Heart and Courtesy of BBS Radio on 2007-05-19 19:00:00, show guests , about , categorized as
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Ok so Ive got a question for the women on here. Who is a good Obstetrician in the Soo? I know theres Dr.Hergott, Dr. Zehr, Dr. Gupta, Dr. Amimi and Dr. Fam So who would you recommend out of the above??? And why??? I had one of the Doctors above before (Im not going to mention who)....and Im just looking to see who would recommend who.....
Ciliopathy syndromes result from primary cilium dysfunction and are often associated with premature renal failure due to nephronophthisis. While the genetic mutations that underlie a range of ciliopathies have been identified, the link between these genes and disease phenotypes remain elusive. Mutations in the gene encoding the large centrosomal protein CEP290 are associated with several ciliopathies, including Joubert syndrome (JS). CEP290 localizes to the centrosome and the base of the primary cilium; however, it is also found within the nucleus, where its function is largely unknown. Gisela Slaats and colleagues at the University Medical Center Utrecht have demonstrated that loss of CEP290 induces DNA damage response signaling, DNA breaks, and replication stress in the kidney. Compared to cells from a healthy donor, renal epithelial cells isolated from a patient with CEP290-asssociated JS had increased DNA damage signaling and decreased CEP290. Moreover, CEP290 depletion in human and murine ...
Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates?
CCT4 Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin. Belongs to the TCP-1 chaperonin family. Note: This description may include information from UniProtKB ...
Absence of tibia with polydactyly information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Built of thick, sturdy wood, this small room serves as the entry to the Shadgard Jail. The structure has been built up against the red rock of the canyon, which makes up the western wall. Several heavy copper-bound wooden #doors have been set into the wall, small barred windows in their faces. A simple pine desk and #chair sit at the northern end of the structure ...
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Built of thick, sturdy wood, this small room serves as the entry to the Shadgard Jail. The structure has been built up against the red rock of the canyon, which makes up the western wall. Several heavy copper-bound wooden #doors have been set into the wall, small barred windows in their faces. A simple pine desk and #chair sit at the northern end of the structure ...
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Alfred Matthew "Weird Al" Yankovic (1959. október 23. -) amerikai zenész, leginkább paródiáiról ismert. Dalszövegei nagyrészt népszerű - kultúrát parodizáló - elemeket tartalmaznak, köztük a televízió, filmek, étel, zene, honlapok és hírek. Bár népszerűségét a paródiák hozták meg számára, albumain saját, humoros szerzeményei vannak többségben.. ...
Meglehet, hogy már az oligocén korban a gólyaalakúak önálló és szétterjedt csoportot alkottak. Mint a vízimadárcsoportok többsége, a gólyák is körülbelül a paleogén időszak idején, mintegy 50-40 millió évvel ezelőtt jelenhettek meg. A ma is élő nemek fosszilis képviselői 15 millió évvel ezelőtt, azaz a középső miocén korszak idején is léteztek már. Habár számos ma élő gólyafaj és -alfaj veszélyeztetett, az írott történelem nem számol be ember által kiirtott gólyafajról. A Réunion egyik barlangjában talált Ciconia nembéli maradványok nem tartoznak egy bennszülött fajhoz, hanem a sziget első telepesei vitték oda, hogy táplálékul szolgáljon. A különleges, röpképtelen madarakról híres Mascarenhas-szigetcsoportnak az eddigi adatok szerint nem volt saját gólyafaja. ...
BBS2 antibody Rabbit Polyclonal from Proteintech validated in Western Blot (WB), Immunoprecipitation (IP), Immunohistochemistry (IHC), Immunofluorescence (IF), Enzyme-linked Immunosorbent Assay (ELISA) applications. This antibody reacts with human, mouse, rat samples. Cat.No. 11188-2-AP.
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Before joining JVP, Rabin held senior human resources positions at Nasdaq-listed software company Nice and at communication equipment firm Nortel Networks
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She stood to stretch her legs. That should bother you, furface;Many wouldnt care if they DID know. For too damn many of my kind, the Wisere nothin moren a rotted cousin with a few more tricks and a bit o extra wits thrown in. Cute. Amusin diversion. Not like theyre Human, though. Not like theyre persons, deservin a persons respect. Her voice began to rise; she didnt notice. I mean, my own damn familys that way;I jus dont mention the subject when I visit now. Oh, they listen ever so politely when you explain, but they truly dont, they wont understand, same as half the damn human race-Im feelin generous-and it drives you absolutely mad knowin theres nothin for it but grit your teeth an shut it an move on because of what JACKASSES we are, and theres nothin helpin it but keep your peace and promise yourself you will never, NEVER be that way. She turned back to him So your pardon, Wolf, if Im less than amused when one of those Wise seems eager to go around town led ...
TREASURERS REPORT PERIOD: July 31, 1997 PREPARED: September 17, 1997 PREPARED BY: Lou Ann Coy REVIEWED/APPROVED BY Mike Novominsky, Treasurer This TREASURERS REPORT with the Balance Sheet & Statement of Revenues and Expenses is posted monthly on the BBS in the HAL Politics Section in a message from the treasurer attached in uncompressed format at the time that its submitted for inclusion in the monthly Board of Directors (BOD) meeting packet. The entire report with all attachments is posted on the BBS in the HAL BOD Section in text format. The report is included in the Agenda sent to the BOD and the full report with all statements is included in the Minutes of the Meetings of the Board of Directors maintained in the HAL-PC Offices. ============================================================================================================ == OVERVIEW ================================================================================================ 1. HBS Interests, Inc. refunded HAL-PCs ...
Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping features. Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. Human ciliopathies characterized by variable combinations of these features include autosomal recessive (ARPKD) and dominant (ADPKD) polycystic kidney diseases, nephronophthisis (NPHP), Joubert syndrome and related disorders (JSRD), Bardet-Biedl (BBS), Meckel-Gruber (MKS), Oral-Facial-Digital-type 1 (OFD1), and Alstrom syndromes (AS) and skeletal disorders such as Jeune syndrome (JS) and cleidocranial dysplasia. ARPKD, the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis of the liver. JSRD are a heterogenous group of syndromes ...
Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping features. Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. Human ciliopathies characterized by variable combinations of these features include autosomal recessive (ARPKD) and dominant (ADPKD) polycystic kidney diseases, nephronophthisis (NPHP), Joubert syndrome and related disorders (JSRD), Bardet-Biedl (BBS), Meckel-Gruber (MKS), Oral-Facial-Digital-type 1 (OFD1), and Alstrom syndromes (AS) and skeletal disorders such as Jeune syndrome (JS) and cleidocranial dysplasia. ARPKD, the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis of the liver. JSRD are a heterogenous group of syndromes ...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual. Targeted next-generation sequencing in a large JS cohort identified biallelic RDVs in eight additional families for an estimated prevalence of 2.5% (9/366 JS families). All affected individuals displayed JS phenotypes toward the mild end of ...
Two pathways for BB duplication have been identified (Marshall et al., 2001). In the more common, templated pathway, new BBs form in association with preexisting BBs. In the de novo pathway, BBs form in the absence of preexisting BBs. In Tetrahymena, most somatic BBs form once per cell cycle by a templated mechanism, (Allen, 1969) doubling the total number of somatic BBs each cell cycle. In contrast, to generate a new OA, a large number of BBs in the OP region is produced during a small portion of the cell cycle, either by rapid, repeated templating or, more likely, by a de novo pathway. A requirement for γ-tubulin in this rapid synthesis of new BBs likely explains why dividing cells without normal OP development appeared before other phenotypes were observed. We conclude that, as in Paramecium (Ruiz et al., 1999), γ-tubulin is required for BB duplication. Two lines of evidence support another novel finding of our study, that γ-tubulin is required for maintenance of mature BBs. First, the ...
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The Santa Clara County ARES/RACES network provides a standard amateur radio packet BBS (Bulletin Board System) service. The service provides full-service BBS functionality (messages and bulletins) throughout Santa Clara County even if the entire Internet is completely down. The service can also send and receive e-mail to/from Internet e-mail addresses. But the service is not in any way dependent on the Internet.. ...
Perform reliable qPCR with Bio-Rads pre-validated bbs9 primer pair, for the Zebrafish genome. Designed for SYBR Green-based detection.
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Without going into personal details, I can tell you that a lot of this shit happens in BC care homes too, and I doubt anyone whos had a relative they cared enough to check up on in one of these places will be terribly surprised by this report. So thank you to the Canadian military for making it impossible to turn a blind eye to any more, at least in Quebec and Ontario. I really hope some people see jail time for this ...
Early in life I had noticed that no event is ever correctly reported in a newspaper.. ~ George Orwell (1903-06-25 1950-01-21 age:46) Any time newspapers have reported on me, I noticed the same thing. ...
Join Cynosure, Dr. Lisa Espinoza, and Dr. Steven Rabin for a seminar that covers it all! Over the course of one day youll learn about the latest advances in everything from lipolysis to skin treatments to fractional technologies. Lessons are followed by cocktails, dinner and networking.
Blue Jays are not at their most conspicuous during the BBS season but nevertheless they are detected in large numbers on nearly all routes. The average counts have declined modestly but steadily over the decades. I found it interesting that there is no noticeable effect of the arrival of West Nile Virus in the early 2000s; the decline was ongoing before then and has continued at about the same rate since ...
Multi-ciliary arrays promote fluid flow and cellular motility using the polarized and coordinated beating of hundreds of motile cilia. Tetrahymena basal bodies (BBs) nucleate and position cilia, whereby BB-associated striated fibers (SFs) promote BB anchorage and orientation into ciliary rows. Mutants that shorten SFs cause disoriented BBs. In contrast to the cytotaxis model, we show that disoriented BBs with short SFs can regain normal orientation if SF length is restored. In addition, SFs adopt unique lengths by their shrinkage and growth to establish and maintain BB connections and cortical interactions in a ciliary force-dependent mechanism. Tetrahymena SFs comprise at least eight uniquely localizing proteins belonging to the SF-assemblin family. Loss of different proteins that localize to the SF base disrupts either SF steady-state length or ciliary force-induced SF elongation. Thus, the dynamic regulation of SFs promotes BB connections and cortical interactions to organize ciliary arrays. ...
The son of late Israeli Prime Minister Yitzhak Rabin assassinated in 1995 tells CNN politicians need to know where the line should not be crossed in incendiary language.
when HE has family with developmental and mental disorders. He is arrogant, refuses to hear ANYTHING that contradicts (let alone invalidates) his 10 year plus rant. Even YOU got tired of it...... more ...
There is a box in front of the trigger that turns on the laser pointer found at the front of the AEG, unfortunately, you will not be able to adjust the alignment of the laser itself. The dial doesnt serve a purpose, its purely aesthetic.. It features an extended monopod protruding out of the pistol grip, extendable bipods, adjustable cheek rest which can rise to the occasion, and a function charging handle which reveals the hop up unit. Being that it is an AEG, youll be happy to know that the magazine contains 40 BBs which is plenty. The battery compartment can be found underneath the top portion of the rail system and it will fit the RWA 11.1v 1000mAh (20C) AK Stick Type Lipo Rechargeable Battery.. As mentioned previously, its not the lightest airsoft gun in the world as it weights over 5 kilograms. You wont want to be lugging it around so staying still will be your best bet. The amazing thing about it is that the incredibly long inner barrel and power combined forces BBs to well over 40 ...
Bardet-Biedl syndrome, or Fraser syndrome. One out of every 5,000 women have this abnormality. The exact mechanism for vaginal ... 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 ...
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, ... e.g. hypothyroidism, Cushing's syndrome, endocrine disruptors. Cystic fibrosis. Mutations in FSHB. Frasier syndrome. Various ...
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: EJHG. 21 (1 ... "Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)". Human Molecular Genetics. 25 (11): 2283-2294. doi:10.1093/hmg/ddw096. ...
BBS2 Bardet-Biedl syndrome 3; 209900; ARL6 Bardet-Biedl syndrome 4; 209900; BBS4 Bardet-Biedl syndrome 5; 209900; BBS5 Bardet- ... Biedl syndrome 6; 209900; MKKS Bardet-Biedl syndrome 7; 209900; BBS7 Bardet-Biedl syndrome 8; 209900; TTC8 Bardet-Biedl ... PTEN Bardet-Biedl syndrome 1; 209900; BBS1 Bardet-Biedl syndrome 10; 209900; BBS10 Bardet-Biedl syndrome 11; 209900; TRIM32 ... Bardet-Biedl syndrome 12; 209900; BBS12 Bardet-Biedl syndrome 13; 209900; MKS1 Bardet-Biedl syndrome 14; 209900; CEP290 Bardet- ...
Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. The expression of the Bardet-Biedl syndrome 9 ... "Entrez Gene: Bardet-Biedl syndrome 9". Human BBS9 genome location and BBS9 gene details page in the UCSC Genome Browser. ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs9 protein, human at the US National Library of Medicine Medical ... Mutations in this gene are associated with the Bardet-Biedl syndrome. GRCm38: Ensembl release 89: ENSMUSG00000035919 - Ensembl ...
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet-Biedl syndrome 8 is a protein that in humans is encoded by the ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome a TTC8 protein, human at the US National Library of Medicine Medical ... 2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic ... Mutations in the TTC8 gene is one of 14 genes identified as causal for Bardet-Biedl syndrome. GRCh38: Ensembl release 89: ...
Desai A, Jha O, Iyer V, Dada R, Kumar R, Tandon N (July 2009). "Reversible hypogonadism in Bardet-Biedl syndrome". Fertil ... Desai A, Jha O, Iyer V, Dada R, Kumar R, Tandon N (July 2009). "Reversible hypogonadism in Bardet-Biedl syndrome". Fertil ... "Predicting adult metabolic syndrome from childhood body mass index: follow-up of the New Delhi birth cohort". Arch Dis Child. ... "Predicting adult metabolic syndrome from childhood body mass index: follow-up of the New Delhi birth cohort". Arch Dis Child. ...
Bardet-Biedl syndrome (BBS): TRIM32 is one of 14 genes known to be linked with BBS. Specifically a mutation (P130S) in the B- ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Albor A, El-Hizawi S, Horn EJ, et al. (2006). "The interaction of Piasy ... Hamosh, Ada (2012-11-02). "OMIM entry #209900 Bardet-Biedl Syndrome; BBS". Online Mendelian Inheritance in Man. McKusick- ... as a Bardet-Biedl syndrome gene (BBS11)". Proc Natl Acad Sci U S A. 103 (16): 6287-92. doi:10.1073/pnas.0600158103. PMC 1458870 ...
"Entrez Gene: BBS1 Bardet-Biedl syndrome 1". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS1 genome location ... 2002). "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome". ... Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, ... Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. As of 2008[update ...
Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains ... "Entrez Gene: BBS4 Bardet-Biedl syndrome 4". Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, ... Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS4 genome location and BBS4 gene details page in the UCSC Genome ...
"Entrez Gene: BBS5 Bardet-Biedl syndrome 5". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Hillier LD, Lennon G, Becker ... This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome ... Bardet-Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene. ... "Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus". Genomics. 55 (1 ...
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 nubella syndrome, vitamin A deficiency, or meningitis. If left untreated during childhood, amblyopia is currently ...
It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). GRCh38: Ensembl release 89: ... "Dissection of epistasis in oligogenic Bardet-Biedl syndrome". Nature. 439 (7074): 326-30. doi:10.1038/nature04370. PMID ...
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two ... "Entrez Gene: MKKS McKusick-Kaufman syndrome". GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome GeneReviews/NIH/NCBI/UW ... 2002). "Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients". Hum. ... McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene. This gene ...
Bardet-Biedl syndrome (BBS) provides one such example. BBS is a genetically-heterogeneous disorder with at least 6 known ... "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science (New York, N.Y.). 293 (5538): 2256-9 ...
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 ...
In some cases it is associated with Bardet-Biedl Syndrome. If it occurs in prepubertal girls, it may show up as abdominal ... "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). ...
Bardet-Biedl syndrome 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 ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs7 protein, human at the US National Library of Medicine Medical ... 2008). "A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family". Mol. Vis. 14: 2304-8. PMC 2603185 . ...
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 ...
Bardet-Biedl syndrome 10, also known as BBS10 is a human gene. The Bardet-Biedl syndrome 10 protein has distant sequence ... "Entrez Gene: Bardet-Biedl syndrome 10". Stoetzel C, Muller J, Laurier V, et al. (2007). "Identification of a novel BBS gene ( ... 2006). "[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]". Med Sci (Paris). 22 (11): 901-4. doi:10.1051/medsci ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Bbs10 protein, human at the US National Library of Medicine Medical ...
"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 ( ...
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 ...
... including Bardet-Biedl syndrome, orofaciodigital syndrome, Joubert syndrome, cone-rod dystrophy, Meckel syndrome, and ... Basal body dysfunction is a likely cause of pleiotropic BardetBiedl syndrome. Nature, 425 (2003), pp. 628-633 M.I. Ferrante, Z ... MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet., 38 (2006 ... Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin‐4 interactor, cause Joubert syndrome. Nat. Genet ...
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)". ...
... 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. doi:10.1038 ... 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and ...
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 ...
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 ...
Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. Bardet-Biedl syndrome ... Syndrome de Bardet-Biedl (BBS) Bardet-Biedl syndrome at GeneReview/UW/NIH. ... Laurence Moon Bardet Biedl Society (UK-based) Bardet Biedl Syndrome Family Association a US-based non-profit providing ... Meckel-Gruber syndrome and some forms of retinal degeneration. The syndrome is named after Georges Bardet and Arthur Biedl.The ...
... decreased visual functions and visual prognosis for patients with Bardet-Biedl syndrome by reviewing the case of a 14-year-old ...
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 ...
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). ...
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 ...
Bardet-Biedl syndrome 4 MedGen: C2936864 OMIM: 615982 GeneReviews: Bardet-Biedl Syndrome ... BBS4 Bardet-Biedl syndrome 4 [Homo sapiens] BBS4 Bardet-Biedl syndrome 4 [Homo sapiens]. Gene ID:585 ... This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder ... Bardet-Biedl syndrome 4provided by HGNC. Primary source. HGNC:HGNC:969 See related. Ensembl:ENSG00000140463 MIM:600374 Gene ...
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. ...
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 ...
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. , ...
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. ...
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. ...
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, ...
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 ...
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 ...
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 ...
Bardet-Biedl syndrome 5 protein isoform X1Imported. ,p>Information which has been imported from another database using ... tr,A0A1U7SR99,A0A1U7SR99_TARSY Bardet-Biedl syndrome 5 protein isoform X1 OS=Tarsius syrichta GN=BBS5 PE=4 SV=1 ...
In the pleiotropic Bardet-Biedl syndrome (BBS), a primary ciliopathy with intraflagellar transport dysfunction, patients have a ... Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. ... of facial dysmorphology as a basis for investigating the pathomechanism of CF development in dysmorphic syndromes. ...
Bardet-biedl Syndrome UK Bardet-Biedl Syndrome UK is the only registered charity supporting people with Bardet-Biedl Syndrome, ... 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 ...
... 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, ...
... 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 ...
Bardet-Biedl Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, ... Contents for Bardet-Biedl Syndrome: *Bardet-Biedl Syndrome *What is Bardet-Biedl Syndrome? *Prevalence and Incidence of Bardet- ... Biedl Syndrome *Videos related to Bardet-Biedl Syndrome *Types of Bardet-Biedl Syndrome *Causes of Bardet-Biedl Syndrome * ... Symptoms of Bardet-Biedl Syndrome *Diagnostic Tests for Bardet-Biedl Syndrome *Home Testing and Bardet-Biedl Syndrome *Signs of ...
Subretinal Gene Therapy of Mice With Bardet-Biedl Syndrome Type 1 Seongjin Seo; Robert F. Mullins; Alina V. Dumitrescu; Sajag ... Abu-Safieh L Al-Anazi S Al-Abi L In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet . 2012; 20: 420-427. [ ... Chamling X Seo S Bugge K Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PLoS ... Bardet-Biedl syndrome (BBS) refers to a group of disorders characterized by obesity, early-onset severe retinal degeneration, ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Bardet-Biedl syndrome ... Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Med Res ... Registries for Bardet-Biedl syndrome 1:. The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS). ... Bardet-Biedl syndrome. (BBS) is an inherited. condition that affects many parts of the body. People with this syndrome have ...

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