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.

Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. (1/55)

BACKGROUND AND OBJECTIVE: Crigler-Najjar syndromes type I and II and Gilbert's syndrome are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Over the last few years a number of different mutations affecting this gene have been characterized. The aim of this work is to review the molecular pathology of Crigler-Najjar and Gilbert's syndromes, to discuss its impact on the clinical and genetic classification of these conditions, and on the diagnostic evaluation of clinical pictures associated with unconjugated hyperbilirubinemia. EVIDENCE AND INFORMATION SOURCES: The authors of the present review are involved in the clinical management of patients with familial unconjugated hyperbilirubinemia as well as in the characterization of its molecular bases. Evidence from journal articles covered by the Science Citation Index and Medline has been reviewed and collated with personal data and experience. STATE OF THE ART AND PERSPECTIVES: It has been known for many years that mild to severe deficiency of bilirubin UDP-glucuronosyltransferase in the liver is the cause of two types of familial unconjugated hyperbilirubinemia, Crigler-Najjar syndromes I and II, and Gilbert's syndrome. Since the characterization of the gene encoding for bilirubin UDP-glucuronosyltransferase, a number of mutations affecting the expression of this gene have been identified. These mutations can be classified into three groups: mutations which result in a reduced production of a normal enzyme; mutations which give rise to the synthesis of a structurally abnormal and dysfunctional enzyme; mutations which completely abolish the expression of the affected allele. The combination of mutations affecting the coding region of the gene and of promoter mutations which reduce the expression of the gene accounts for the wide clinical spectrum of familial unconjugated hyperbilirubinemias, ranging from the clinically negligible Gilbert's syndrome to the severe and often fatal Crigler-Najjar type I syndrome. A better understanding of the genetics of these conditions and the availability of molecular diagnosis will improve the diagnostic efficiency and afford better informed genetic counseling, not only for Crigler-Najjar and Gilbert's syndromes, but also for several acquired conditions characterized by unconjugated hyperbilirubinemia.  (+info)

Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I. (2/55)

OBJECTIVE: To determine if auxiliary partial orthotopic liver transplantation (APOLT) has the long-term potential to correct the underlying abnormality in Crigler-Najjar syndrome type 1 (CNS1) without the need for total liver replacement. BACKGROUND: Orthotopic liver transplantation has been used successfully to replace the defective enzyme in CNS1. Experimental studies have shown that only 1% to 2% of the normal hepatocyte mass is needed for bilirubin conjugation. If APOLT corrects the underlying metabolic abnormality, it has the advantage of preserving the native liver, which would serve as a "safety net" should the graft fail, and there is the potential for gene therapy in the future with possible withdrawal of immunosuppression. METHODS: Seven APOLT procedures were performed in six recipients with CNS1. Median age at transplantation was 10.5 years. Six transplants were performed as a left auxiliary liver transplant, and one was performed as a right auxiliary liver transplant. Median serum bilirubin level at transplantation was 320 micromol/L. All patients required 12 to 16 hours of phototherapy daily before the transplant to maintain serum bilirubin levels between 250 and 350 micromol/L. RESULTS: Median serum bilirubin level was 50 micromol/L at day 5 after the transplant and 23 micromol/L at a median follow-up of 32 months. In four children, early severe acute rejection developed, requiring conversion to tacrolimus; one underwent a second transplant for chronic rejection and graft atrophy but died from lymphoproliferative disease 6 months after the second transplant. CONCLUSIONS: This report shows that APOLT is technically feasible and provides adequate hepatocyte mass to correct the underlying metabolic abnormality in CNS1.  (+info)

Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide. (3/55)

Crigler-Najjar syndrome type I is characterized by unconjugated hyperbilirubinemia resulting from an autosomal recessive inherited deficiency of hepatic UDP-glucuronosyltransferase (UGT) 1A1 activity. The enzyme is essential for glucuronidation and biliary excretion of bilirubin, and its absence can be fatal. The Gunn rat is an excellent animal model of this disease, exhibiting a single guanosine (G) base deletion within the UGT1A1 gene. The defect results in a frameshift and a premature stop codon, absence of enzyme activity, and hyperbilirubinemia. Here, we show permanent correction of the UGT1A1 genetic defect in Gunn rat liver with site-specific replacement of the absent G residue at nucleotide 1206 by using an RNA/DNA oligonucleotide designed to promote endogenous repair of genomic DNA. The chimeric oligonucleotide was either complexed with polyethylenimine or encapsulated in anionic liposomes, administered i.v., and targeted to the hepatocyte via the asialoglycoprotein receptor. G insertion was determined by PCR amplification, colony lift hybridizations, restriction endonuclease digestion, and DNA sequencing, and confirmed by genomic Southern blot analysis. DNA repair was specific, efficient, stable throughout the 6-month observation period, and associated with reduction of serum bilirubin levels. Our results indicate that correction of the UGT1A1 genetic lesion in the Gunn rat restores enzyme expression and bilirubin conjugating activity, with consequent improvement in the metabolic abnormality.  (+info)

Stimulation of defective Gunn-rat liver uridine diphosphate glucuronyltransferase activity in vitro by alkyl ketones. (4/55)

Addition of alkyl ketone (10mM) to Gunn-rat liver homogenates increased UDP-glucuronyltransferase activity towards 2-aminophenol by 10--20 fold, up to enhanced values of enzyme activity observed with similarly treated Wistar-rat liver homogenates. Alkyl ketones also activate the defective enzyme purified from Gunn-rat liver. This genetic deficiency of UDP-glucuronyltransferase activity is no longer apparent when assayed in the presence of alkyl ketones.  (+info)

Bilirubin adsorption therapy and subsequent liver transplantation cured severe bilirubin encephalopathy in a long-term survival patient with Crigler-Najjar disease type I. (5/55)

Crigler-Najjar disease (CN) type I is characterized by persistent unconjugated hyperbilirubinemia from birth. The male patient here was diagnosed with this disease as a neonate and had been treated by phototherapy. At age 16 he suddenly developed generalized convulsions, followed by impaired cognitive function. The serum level of bilirubin was extremely high (total bilirubin: 41.7 mg/dl) and there were no other detectable causes responsible for the metabolic encephalopathy. He received bilirubin adsorption therapy several times, and the bilirubin encephalopathy improved in response to the fall in the serum level of bilirubin. After this he underwent a successful liver transplantation in Australia, and recovery of his mental faculties was satisfactory. Within the subsequent 3 years epileptic abnormal discharges on the electroencephalogram disappeared. Phototherapy alone can not prevent the rise in the serum level of bilirubin in adolescent or adult patients with CN type I, therefore such patients tend to experience life-threatening bilirubin encephalopathy. To save patients with the acute onset type of bilirubin encephalopathy, sufficient bilirubin adsorption followed by liver transplantation appears to be the most recommended therapeutic approach.  (+info)

Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy. (6/55)

BACKGROUND: Early and accurate diagnosis of Crigler-Najjar syndrome, which causes prolonged unconjugated hyperbilirubinaemia in infancy, is important, as orthotopic liver transplantation is the definitive treatment. AIM: To determine whether bilirubin pigment analysis of bile in infants with prolonged unconjugated hyperbilirubinaemia provides useful diagnostic information in the first 3 months of life. METHODS: Retrospective review of patients with prolonged unconjugated hyperbilirubinaemia referred to the liver unit, Birmingham Children's Hospital, for the diagnosis of Crigler-Najjar syndrome. Bile bilirubin pigment composition was determined by high performance liquid chromatography. Initial diagnoses were made based on the result of bile bilirubin pigment composition. Final diagnoses were made after reviewing the clinical course, response to phenobarbitone, repeat bile bilirubin pigment composition analysis, and genetic studies. RESULTS: Between 1992 and 1999, nine infants aged less than 3 months of age with prolonged hyperbilirubinaemia underwent bile bilirubin pigment analyses. Based on these, two children were diagnosed with Crigler-Najjar syndrome (CNS) type 1, six with CNS type 2, and one with Gilbert's syndrome. Five children whose initial diagnosis was CNS type 2 had resolution of jaundice and normalisation of serum bilirubin after discontinuing phenobarbitone, and these cases were thought to be normal or to have Gilbert's syndrome. One of the initial cases of CNS type 1 responded to phenobarbitone with an 80% reduction in serum bilirubin consistent with CNS type 2. In all, the diagnoses of six cases needed to be reviewed. CONCLUSIONS: Early bile pigment analysis, performed during the first 3 months of life, often shows high levels of unconjugated bilirubin or bilirubin monoconjugates, leading to the incorrect diagnosis of both type 1 and type 2 Crigler-Najjar syndrome.  (+info)

Gene therapy for inherited hyperbilirubinemias. (7/55)

Crigler-Najjar syndrome type 1 (CN-1) is a potentially lethal condition, and is the only inherited disorder of bilirubin metabolism that needs treatment beyond the neonatal period. Currently, orthotopic liver transplantation is the only available cure for CN-1. Because the liver architecture is not disturbed in CN-1 and partial correction of bilirubin-UDP-glucuronosyltransferase (UGT1A1) activity is expected to be sufficient for protection against kernicterus, cell and gene therapies are being developed using the Gunn rat as an animal model of the disease. Ex vivo gene therapy based on the transplantation of genetically manipulated hepatocytes and in vivo gene transfer using recombinant adenovirus and Simian virus 40 (SV40)-based vectors have yielded significant success. The novel strategy of in vivo site-directed mutagenesis has also resulted in modest, but significant, correction of the genetic abnormality. Newer viral and nonviral gene delivery methods are being explored and have been discussed in brief. In summary, effective gene therapy methods have been validated in Gunn rats. Despite considerable remaining hurdles, gene therapy for CN-1 could become a clinical reality by the turn of this decade.  (+info)

Postnatal development of uridine diphosphate glucuronyltransferase activity towards bilirubin and 2-aminophenol in human liver. (8/55)

UDP-glucuronyltransferase activities towards 2-aminophenol and bilirubin were studied in a total of 70 human subjects, including premature and full-term newborn babies, infants, children and adults. These two activities have been reported in rat to develop latefoetally and neonatally respectively, but in man they both develop neonatally. There is a linear relationship between the logarithm of each liver transferase activity and the logarithm of the number of days after birth during the first 3 months of life, after which each activity remains constant.  (+info)

TY - JOUR. T1 - A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar Type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. AU - Ritter, Joseph K.. AU - Yeatman, Matthew T.. AU - Kaiser, Charlotte. AU - Gridelli, Bruno. AU - Owens, Ida S.. PY - 1993/11/5. Y1 - 1993/11/5. N2 - The characterization (Ritter, J. K., Chen, F., Sheen, Y. Y., Tran, H. M., Kimura, S., Yeatman, M. T., and Owens, I. S. (1992) J. Biol. Chem. 267, 3257-3261) of the single-copy UGT1 gene complex encoding both bilirubin and phenol UDP-glucuronosyltransferases (transferase) has been critical to the determination of genetic defects in Crigler-Najjar Type I patients. The complex (UGT1A-UGT1G) codes for at least two bilirubin, three bilirubin-like, and two phenol transferases. Seven different exons 1, each with an upstream promoter and each encoding the amino terminus of an isoform, are arrayed in series with four common exons (encoding seven identical carboxyl termini) in the ...
Crigler-Najjar syndrome is a rare inherited condition that affects the metabolism of bilirubin, a breakdown product of red blood cells. Wikipedia Liver or hepatocyte transplantation may be necessary in Type I disease, which is much more severe than Type II. Gene therapy is being investigated for this condition. Carriers of a single risk allele are usually not affected. SNPs associated with this syndrome (and often with Gilberts syndrome and/or transient newborn jaundice) include ...
Crigler-Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants. The disorder is inherited in an autosomal recessive manner. This syndrome is divided into types I and II, with the latter sometimes called Arias syndrome. These two types, along with Gilberts syndrome, Dubin-Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism. Unlike Gilberts syndrome, only a few cases of CNS are known. It is caused by abnormalities in the gene coding for uridine diphosphogluconurate glucuronosyltransferase (UGT1A1). UGT1A1 normally catalyzes the conjugation of bilirubin and glucuronic acid within hepatocytes. Conjugated bilirubin is more water soluble and is excreted in bile. This is a very rare disease ...
Crigler-Najjar Syndrome. In: Hay, Jr WW, Levin MJ, Deterding RR, Abzug MJ. Hay, Jr W.W., Levin M.J., Deterding R.R., Abzug M.J. Eds. William W. Hay, Jr, et al.eds. Quick Medical Diagnosis & Treatment Pediatrics New York, NY: McGraw-Hill; . http://accesspediatrics.mhmedical.com/content.aspx?bookid=2196§ionid=166956640. Accessed January 18, 2018 ...
NIH Rare Diseases : 50 crigler najjar syndrome, type 2 is caused by mutations in the ugt1a1 gene. the gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). this condition is less severe than the type 1 form, however the severity of type ii can vary greatly. almost all patients with crigler najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). in general people with type 2 crigler najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dl. phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels. last updated: 1/19/2011 ...
An inherited disorder of bilirubin metabolism in which bilirubin cannot be changed into its water-soluble form, bilirubin glucuronide. This is caused by an enzyme imbalance in the liver.
Semantic Scholar extracted view of Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene. by François Petit et al.
Denotes AASLD Presidential Poster of Distinction. TNF-α Services Critical Roles in Regulation of Chemokine/Cytokine/Receptor Responses Activated by Innate Immune System after Transplantation of Allogeneic Hepatocytes. Jaber FL, Sharma Y, Kapoor S, Gupta S. (Oral Presentation). Safe Long-Term Repopulation of Uninjured Livers by Regulated Activation of Yap in Primary Adult Hepatocytes Transplanted into DPPIV- Rats and the Gunn Rat Model of Crigler-Najjar Syndrome Type 1. Peterson EA, Polgar Z, Devakanmalai GS, Li Y, Jaber FL, Zhang W, Wang X, Iqbal NJ, Murray JW, Roy-Chowdhury N, Rogler LE, Zhu L, Roy-Chowdhury J, Shafritz DA. (Oral Presentation). Phosphoprotein Profiling Indicates Markers of Hepatic DNA Damage and ATM Pathway Activation Separate Hepatic Injury in NASH from Fatty Liver. Viswanathan P, Gupta P, Sharma Y, Tchaikovskaya T, Gupta S. (Poster). Ethanol Induces ATM-mediated DNA Damage Response Along with Additional Oxidative DNA Damage and Mitochondrial Injury that is Amenable to ...
Lucey-Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia. The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). A defect in the UGT1A1-gene, also linked to Crigler-Najjar syndrome and Gilberts syndrome, is responsible for the congenital form of Lucey-Driscoll syndrome. "Lucey-Driscoll syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-08-27. Online Mendelian Inheritance in Man (OMIM) 237900 - transient familial neonatal hyperbilirubinemia, breast feeding jaundice ...
Bilirubin is the product of normal heme catabolism and is excreted in the bile. Bilirubin is increased in certain diseases as in hepatocellular damage (inflammatory, toxic, neoplasmatic), intra or extrahepatic obstruction of the biliary tree, hemolytic diseases, neonatal physiological jaundice, Crigler-Najjar syndrome, Gilbert disease, Dubin-Johnson syndrome, jaundice from maternal milk syndrome, hypothyroidism, fructose intolerance, familial hyperbilirubinemia. ...
Crigler-Najjar syndrome 1 (CN1) [MIM:218800]: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. {ECO:0000269,PubMed:11013440, ECO:0000269,PubMed:15712364, ECO:0000269,PubMed:1634050, ECO:0000269,PubMed:17229650, ECO:0000269,PubMed:19830808, ECO:0000269,PubMed:23992562, ECO:0000269,PubMed:7906695, ECO:0000269,PubMed:7989045, ECO:0000269,PubMed:7989595, ECO:0000269,PubMed:8226884}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Bilirubin is formed as a by-product of haemoglobin catabolism and its concentration in the blood correlates with the degree of red cell turnover and hepatic function. Elevated bilirubin concentrations are found in liver cirrhosis, hepatitis, some autoimmune conditions, defective clearance, eg. Crigler-Najjar syndrome, Gilberts and hepatic cholestasis, eg. due to gallstones.. ...
Crigler-Najjar Syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly.
Name an illness, medical condition, or disease and you will find quiltmaking associated with it. From Alzheimers to Irritable Bowel Syndrome, Lou Gehrigs Disease to Crigler-Najjar Syndrome, and for nearly every form of cancer, millions of quilts have been made in support of personal well-being, health education, patient advocacy, memorialization of victims, and fundraising. In Quilts and Health, Marsha MacDowell, Clare Luz, and Beth Donaldson explore the long historical connection between textiles and health and its continued and ever growing importance in contemporary society. This lavishly illustrated book brings together hundreds of health-related quilts-with imagery from abstract patterns to depictions of fibromyalgia to an ovarian cancer diary-and the stories behind the art, as told by makers, recipients, healthcare professionals, and many others. This incredible book speaks to the healing power of quilts and quiltmaking and to the deep connections between art and health.. ...
Sigma-Aldrich offers abstracts and full-text articles by [Yan-Qing Liu, Ling-Min Yuan, Zhang-Zhao Gao, Yong-Sheng Xiao, Hong-Ying Sun, Lu-Shan Yu, Su Zeng].
Antiretrovirals are prone to drug-drug and drug-food interactions that can result in subtherapeutic or supratherapeutic concentrations. Interactions between antiretrovirals and medications for other diseases are common due to shared metabolism through cytochrome P450 (CYP450) and uridine diphosphate glucuronosyltransferase (UGT) enzymes and transport by membrane proteins (e.g., p-glycoprotein, organic anion-transporting polypeptide). The clinical significance of antiretroviral drug interactions is reviewed, with a focus on new and investigational agents. An overview of the mechanistic basis for drug interactions and the effect of individual antiretrovirals on CYP450 and UGT isoforms are provided. Interactions between antiretrovirals and medications for other co-morbidities are summarized. The role of therapeutic drug monitoring in the detection and management of antiretroviral drug interactions is also briefly discussed.
Lynch syndrome type II information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
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I start abusing my meds to a dangerous point because I just want to feel anything than what I am feeling then. This oral medication has gabapentin and nuvaring a lot of popularity due to its distinguishing ability to provide respite from the devastating health symptoms in a quick span of time. Availability Rx Prescription only. Hows everybody combating their monthly issues? Increased metabolism of lamotrigine by OC induction of the uridine diphosphate glucuronosyltransferase system has been demonstrated as the likely mechanism. Oral contraceptives reduce lamotrigine plasma levels. When it is used at higher doses for colonoscopy prep, it can cause gabapentin and nuvaring form of kidney damage and kidney failure known as acute phosphate nephropathy.. Ketek anr is an antibiotic used to treat bacteria infections that are found in the lungs, sinus, and throat. Luef G, Abraham I, Haslinger M, et al. Abilify Acyclovir Adderall Alprazolam Amlodipine Androgel Bactrim Botox Chantix Cialis Cipro Cymbalta ...
Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous (wood-like) conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, ...
Like with humans, obese dogs are definitely more likely to snore over the night. • If there is often a need to get a database. internal stimuli which could cause the crooks to malfunction. See the extraordinary view in the rooftops. This is the place where UGT or urodine diphosphate glucuronosyltransferase can be purchased in, it can help the liver cells process the bilirubin into bile. Besides, all auto producers promises to get the best sort of hybrid cars inside the market today. It is that you who will going to discover each day the destruction your artist has created in your body. own parachute whenever you exit the airplane, but exit with two. Las canciones mas conocidas de aquel disco don "Underneath Your Clothes" (debajo de tu ropa) y "Whenever, Wherever" (Suerte) fueron los mas populares. Accessories for Coin Collection ...
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K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17] K00699 UGT; glucuronosyltransferase [EC:2.4.1.17 ...
Careful positioning and padding because of the tendency to fracture. Direct laryngoscopy and tracheal intubation might be difficult because of the micrognathia and the potential for epiglottic aplasia or laryngeal structure deformity. Spontaneous respiration must be maintained until the trachea has been intubated and lung ventilation is confirmed. The immediate availability of a laryngeal mask airway in case of failure to intubate the trachea is recommended. Fiberoptic equipment may be needed and should be available. The presence of abnormal dentition should also be kept in mind to avoid trauma during laryngoscopy. ...
GSK1349572 is an integrase inhibitor that is currently in clinical development for the treatment of human immunodeficiency virus (HIV) infection. GSK1349572 is metabolized primarily by uridine diphosphate glucuronosyltransferase (UGT)1A1 with a minor role of Cytochrome P450 (CYP)3A. Hepatic impairment could potentially alter the clearance and plasma protein binding of GSK1349572. This study will evaluate the single dose pharmacokinetics and safety of GSK1349572 in healthy subjects and in subjects with mild or moderate hepatic impairment based on Child-Pugh category.. This is a single-dose, open-label, parallel group, two-part, adaptive study in adult males and females with mild or moderate hepatic impairment and matched, healthy control subjects with normal hepatic function. Healthy control subjects (16) will be matched for gender, age, and BMI to the subjects in the mild (8) or moderate (8) hepatic impairment category. In Part 1, approximately 8 subjects with moderate hepatic impairment (cohort ...
GSK1349572 is an integrase inhibitor that is currently in clinical development for the treatment of human immunodeficiency virus (HIV) infection. GSK1349572 is metabolized primarily by uridine diphosphate glucuronosyltransferase (UGT)1A1 with a minor role of Cytochrome P450 (CYP)3A. Hepatic impairment could potentially alter the clearance and plasma protein binding of GSK1349572. This study will evaluate the single dose pharmacokinetics and safety of GSK1349572 in healthy subjects and in subjects with mild or moderate hepatic impairment based on Child-Pugh category.. This is a single-dose, open-label, parallel group, two-part, adaptive study in adult males and females with mild or moderate hepatic impairment and matched, healthy control subjects with normal hepatic function. Healthy control subjects (16) will be matched for gender, age, and BMI to the subjects in the mild (8) or moderate (8) hepatic impairment category. In Part 1, approximately 8 subjects with moderate hepatic impairment (cohort ...
A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicating autosomal dominant inheritance. Two members had clinical and laboratory signs of SLE and two other members SLE-like syndrome. All living family members in the first and second generation had homozygous C4A null alleles. In three of the adults the two syndromes occurred simultaneously, probably in this family by coincidence. ...
Gilberts Syndrome is a form of congenital hyperbilirubinemia, which is a condition where bilirubin is not properly processed by the liv
Gilberts syndrome is a type of mild liver problem. This is a condition wherein the liver doesnt properly process a substance called bilirubin.
Find a clinical trial for Gilberts Syndrome and sign up to take part. Get links to all you need to know about clinical trials and other useful resources.
SUMMARY. At the moment 9 seemingly independent families with the clinical diagnosis of MJD are known in Brazil. The largest family tree of Azorean ancestry contatins 622 individuals in 9 generations. 236 were examined, 39 found to be affected by two examiners. Pheno-types I, II and III were expressed by 12, 23 and 4 patients with age of onset by phenotypea being 10-48, 14-54 and 30-55 respectively. Although clinically more severe, juvenile onset type I disease did not show as severe a ponto-mesencephialic atrophy on MRI as the father with type II disease of similar symptomatic duration. None of the 8 patients examined with MRI showed olivary atrophy or pallidal abnormalities. 12 affected and 23 at risk were evaluated with neuropsychological tests. Attention was normal in both groups. Verbal memory scores were below normal in the affected and there was greater decay with time than in the risk group. Both scored below normal in identifying silluettes and constructional praxis. Visual memory scores ...
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Definition of UDPglucuronate-bilirubin glucuronosyltransferase. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
If the rosy complexion now has a yellow Solid, very low B12 would be the perpetrator. Having a deficiency, the purple blood cells that you choose to do have are very fragile and easily damaged, resulting in a release of bilirubin pigment that offers pores and skin a yellow hue. (Eat these 25 ideal foods for the skin ...
TY - JOUR. T1 - Dismutation of Bilirubin Monoglucuronide. AU - Chowdhury, J. Roy. AU - Arias, Irwin M.. PY - 1981/1/1. Y1 - 1981/1/1. N2 - Bilirubin monoglucuronide is the major pigment in the human and rat bile. The dismutation of bilirubin monoglucuronide occurs at a normal rate in vitro in the liver of uridine diphosphate glucuronosyltransferase deficient man and rat. This chapter presents a procedure for the isolation of azopigmcnts. Preparations procedure involves the preparation of rat liver microsomes; the biosynthesis of bilirubin monoglucuronide; and the preparation of ethyl anthranilate diazo reagent. In the assay, the enzyme suspension is incubated with sodium phosphate at pH 6.6 containing glucaro-l,4-lactonc. Bilirubin monoglucuronide is dissolved in Tris-HCl at pH 7.8 and 0.05 ml is added to the enzyme-buffer mixture. After incubation at 37 ° for 3 min, the reaction is stopped with 2 ml ice-cold ethyl anthranilate diazo reagent. After incubation at 25 ° for 30min, 1ml of 20% ...
Fasting is associated with unconjugated hyperbilirubinemia in several species, including the horse. Studies in ponies showed that a 3-day fast decreased plasma clearance of bilirubin, cholic acid, and sulfobromophthalein (BSP). Since these organic anions are conjugated with different substrates, it is possible that observed differences in plasma clearance result from a general decrease in hepatic conjugating capacity during the animals fasting. To test this hypothesis, the effects of a 3-day Show moreFasting is associated with unconjugated hyperbilirubinemia in several species, including the horse. Studies in ponies showed that a 3-day fast decreased plasma clearance of bilirubin, cholic acid, and sulfobromophthalein (BSP). Since these organic anions are conjugated with different substrates, it is possible that observed differences in plasma clearance result from a general decrease in hepatic conjugating capacity during the animals fasting. To test this hypothesis, the effects of a 3-day fast ...
Gilberts syndrome occurs due to deficiency of the UGT enzyme that helps in conjugation of free unconjugated bilirubin. This conjugation process by glucoronidation helps in making the bilirubin water soluble and finally helps in excretion of the bilirubin in urine and faeces. Bilirubin is the breakdown product of dead and aged red blood cells. While the protein portion of the haemoglobin present in the red blood cells is salvaged the heme part is excreted in the bilirubin. Gilberts syndrome occurs in 1 in 20 individuals. This syndrome is characterized by jaundice. However, there is a large population of sufferers who are not aware of their condition. They have intermittent elevation of levels of bilirubin in blood that returns to normal and stays normal most of the time. ...
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Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Constitutional hyperbilirubinemia; Gilberts disease; Gilberts syndrome; Gilbert-Meulengracht syndrome; hereditary nonhemolytic jaundice
Bilirubin is one of the most commonly used tests to assess liver function. Approximately 85% of the total bilirubin produced is derived from the heme moiety of hemoglobin, while the remaining 15% is produced from RBC precursors destroyed in the bone marrow and from the catabolism of other heme-containing proteins. After production in peripheral tissues, bilirubin is rapidly taken up by hepatocytes where it is conjugated with glucuronic acid to produce bilirubin mono- and diglucuronide, which are then excreted in the bile.. A number of inherited and acquired diseases affect one or more of the steps involved in the production, uptake, storage, metabolism, and excretion of bilirubin. Bilirubinemia is frequently a direct result of these disturbances.. The most commonly occurring form of unconjugated hyperbilirubinemia is that seen in newborns and referred to as physiological jaundice.. The increased production of bilirubin, that accompanies the premature breakdown of erythrocytes and ineffective ...
Tips to help with your thrombocytopenia: Gilberts Syndrome Thrombocytopenia. My thrombocytopenia, Online resources for thrombocytopenia.
am 23 male have jaundice since 3years and its recurring again since then i don take alcohol i ve not taken any blood transfusion ,am a pure vegetarian my blood reports says normal B12 levels and unconjugated hyperbilirubinemia. None of our family members ve this and i don ve any bleedin disorder can anyone tell me wats my diagnosis. Reply Follow This Thread Stop Following This Thread Flag this Discussion ...
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Gilberts syndrome is a genetic disorder thats hereditary (it runs in families). People with the syndrome have a faulty gene which causes the liver to have problems removing bilirubin from the blood.. Normally, when red blood cells reach the end of their life (after about 120 days), haemoglobin - the red pigment that carries oxygen in the blood - breaks down into bilirubin.. The liver converts bilirubin into a water-soluble form, which passes into bile and is eventually removed from the body in urine or stools. Bilirubin gives urine its light yellow colour and stools their dark brown colour.. In Gilberts syndrome, the faulty gene means that bilirubin isnt passed into bile (a fluid produced by the liver to help with digestion) at the normal rate. Instead, it builds up in the bloodstream, giving the skin and white of the eyes a yellowish tinge.. Other than inheriting the faulty gene, there are no known risk factors for developing Gilberts syndrome. It isnt related to lifestyle habits, ...
Gilberts Girls. Recently during our regular monthly mentoring groups, a practitioner presented a fascinating case of a 35yo female suffering from pronounced GIT issues (GORD and chronic oesophagitis, gastropariesis, IBS, 15 years of PPI use) coupled with anxiety, panic attacks, broken sleep & a picture suggestive of oestrogen excess (short cycles, intense heavy bleeding, clotting & weight gain). Interestingly her fraternal twin sister presented with a very similar picture. Both happen to have genetic hyperbilirubinemia known as Gilberts syndrome. This means that, like 10-15% of Caucasians, they are homozygous for a mutation that diminishes the expression and activity of a major enzyme cluster within the glucuronidation pathway, a dominant pathway in phase 2 detoxification. In turn this impairs their ability to effectively metabolise bilirubin (as well as some other neurotransmitters, hormones & drugs) leading to higher levels of unconjugated bilirubin (UCB) called Total or Indirect ...
Cause of elevated bilirubin - What is the cause of elevated bilirubin in young man, more than 2 years? Bilirubin is 31 (norm |17)no gilbert syndrome Many possible causes.. . ranging from problems with the gallbladder or bile duct to liver problems to problems with metabolism. If you know that Gilbert syndrome is not present, you must have seen a physician about this in the past. If a diagnosis still has not been made, I would ask to see a hepatologist for more definitive testing. Good luck.
Gilberts syndrome Gilberts syndromeClassification & external resources Bilirubin ICD-10 E80.4 ICD-9 277.4 OMIM 143500 DiseasesDB 5218 eMedicine med/870 
ଗିଲବର୍ଟ ସିଣ୍ଡ୍ରୋମ ବା ଜିଏସ (Gilberts syndrome or GS) ଏକ ସାମାନ୍ୟ ଯକୃତ ରୋଗ (liver disorder) ଯେଉଁଥିରେ ଯକୃତରୁ (liver) ବିଲିରୁବିନ (bilirubin) ସଠିକ ଭାବରେ ବିକଶିତ ହୁଏନି ।[୧] ଅନେକ ଲୋକଙ୍କର କୌଣସି ଲକ୍ଷଣ ଦେଖାଯାଏନାହିଁ ।[୧] ବେଳେ ବେଳେ ସାମାନ୍ୟ ଚର୍ମ ଓ ଆଖିର ଧଳା ଅଂଶ ହଳଦିଆ (yellowish color of the skin or whites of the eyes) ଦେଖାଯାଏ । [୧] ଥକ୍କାଣ, ଦୁର୍ବଳତା ଓ ଉଦର ଯନ୍ତ୍ରଣା ଦେଖାଯାଇପାରେ ।[୧] ଗିଲବର୍ଟ ସିଣ୍ଡ୍ରୋମରେ ୟୁଜିଟି୧ଏ୧ (UGT1A1 gene) ଜିନର ମ୍ୟୁଟେସନ (mutation) ହେବା ଫଳରେ ବିଲିରୁନିବିନ ଯୁରିଡିନ ...
Gilberts syndrome is a common, benign genetic liver disorder. It causes levels of bilirubin to rise above normal levels. Bilirubin is a yellow chemical by-product of hemoglobin (the red pigment in blood cells) and is usually excreted by the liver as bile.. Gilberts syndrome is found in 3%-7% of the US population, affecting up to 10% of some Caucasian populations. This condition usually manifests during the teen years or in adulthood years (ages 20-30).. ...
I have GS and have noticed recently when ive had four or more beers especialy guinness the next day i feel so hungover, but its not a normal hangover its worse. Mabe i should quit, i was told a few years ago that i had lump in my liver which was benign but they couldnt do a biopsy cause id bleed to death. I use to be a heavy drinker and i stoped drinking after they told me i had a lump i lasted about a year b4 falling of the wagon on my wedding night. I dont drink as much as i use to because i cant as it makes me realy ill the following day.. ...
This is really interesting, because I had recently been looking into something called Gilberts Syndrome - high histamine, and I have noticed that many of the symptoms are very similar to EMF/EMR exposure, as you had indicated.For example, the literature you cited referenced the following biological effects which seem very similar to Gilberts-histadalia:depletion of Glutathione, melatoninabnormal influx of calcium into mast cells, which produces histaminered blood cell clumping, palpitationsdecrease of 5-HT, norepinephine, melatonin, dopamine, acetylcholine etc..To address, I have been taking methionine, B6, calcium/magnesium/d3, omega3, vitc/zinc, and an occasional 5-HTP (and some other vitamins). The results of this vitamin routine have been limited in Europe, but the effect while in Africa was remarkable.Any comment on the relationship between EMF/EMR exposure and the so-called Gilberts syndrome?Thanks, ...
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Compiled By Jessica Oesterheld, M.D. This table is an abridged guide to UGTs. To appreciate the full benefits of this information, click here to get a free 30-day trial version of GeneMedRx. This metabolism-based drug interaction software predicts response to medication combinations with optional input of genetic variations.. Last Update: May 16, 2008 ...
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ON May 1 a very notable figure passed away from the field of geological discovery and research. Dr. Grove Karl Gilbert was born in Rochester, N.Y., in 1843, and had thus almost completed his seventy-fifth year. In his
The ATP-binding cassette transporters P-glycoprotein (ABCB1 MDR1) and multidrug resistance protein 4 (MRP4) efflux irinotecan and its active metabolite SN-38 genotype was a significant covariate for the clearance of both irinotecan Epigallocatechin gallate lactone and SN-38 Epigallocatechin gallate lactone. of the topoisomerase Epigallocatechin gallate I enzyme [2]. SN-38 undergoes glucuronic acid Rabbit polyclonal to TranscriptionfactorSp1. conjugation to form SN-38 glucuronide by uridine diphosphate glucuronosyltransferase. A diagram of Epigallocatechin gallate irinotecan metabolic pathways has been recently published {Innocenti 2009.. ...
What is Gilberts Syndrome? Gilberts Syndrome is a hereditary condition that involves an increase of serum bilirubin in the body. As this happens, the
Gilbert syndrome is a harmless genetic condition in which the liver does not process bilirubin effectively, causing a buildup in the body. Excess bilirubin can cause jaundice, but there are no other known complications. It is not possible to prevent or treat the syndrome, but a healthful lifestyle can help manage it.
الخلاصة. Background: Neonatal jaundice (NJ) is a significant disease among neonates in Najaf province. It manifests 19% of the total deliveries and 50% of the inpatients, and affects about 60% of term and 80% of preterm neonates during the first week of life. UGT1A1 is a cause of concern in NJ, because it is the most important underlying cause of unconjugated hyperbilirubinemia. Methods: A cohort of 85neonate sorted into three groups according to the TSB level. Group 1 ( ...
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Data indicates a very low incidence of lung disease in patients with autoimmune polyendocrinopathytype I syndrome called Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). It is an autosomal recessive disease caused by mutations in the AIRE gene involved in the education process that involves thymic lymphocyte and causes a defect in the maturation of regulatory T cells to peripheral antigens. This causes high susceptibility to autoimmune manifestations in relation to various organs, endocrine or not. The sporadic but severe respiratory manifestations (9 cases out of 110 reported) seem related to the detection of autoantibodies against a potassium channel regulator expressed in the bronchial epithelium: in 7 out of the 9 cases with pulmonary manifestations these autoantibodies were detected, and in only 4 cases,bronchiectasis has been reported. The 16-year-old teenager under study, showed sequential analysis of the entire gene AIRE with 2 molecular defects: mutation ...
Gilberts syndrome is a condition involving a defect in a phase 2 glucuronidation gene known as UGT1a1. The result of this causes elevations in the levels of unconjugated bilirubin. The current scientific consensus is that Gilberts is a relatively benign condition. I disagree with that contention. I believe that UGT1A1 genetic polymorphisms are prone towards. ...
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There are 16 genes that encode full-length UGT proteins (Mackenzie, 1995; Tukey and Strassburg, 2000). Eight are encoded by theUGT1A locus (1A1, 1A3, 1A4, 1A6, 1A7, 1A8, 1A9, 1A10) (Ritter et al., 1992; Gong et al., 2001) and eight are encoded byUGT2 genes (2A1, 2B4, 2B7,2B10, 2B11, 2B15, 2B17, and2B28). Gagne et al. (2002) demonstrate that stable expression of the majority of these gene products in tissue culture confirm that UGT1A1, UGT1A7, and UGT1A9 were the most efficient in glucuronidating SN-38, a finding that supports previous observations (Iyer et al., 1998; Ciotti et al., 1999). What distinguishes the work published by Gagné et al. (2002) in this issue of Molecular Pharmacology from previous reports is the important addition of expression experiments carried out with allelic variants of these UGTs. The authors carefully compare the catalytic efficiencies of expressed UGTs and conclude that selective allelic variants associated withUGT1A1 and UGT1A7 have a significant impact on the ...
Lydia smiled, and tried to draw attention from her sister by lamenting their lateness at the meal.. We were afraid youd have gone away again, she said to Gilbert.. I dont think I shall go to work this morning, he replied quietly.. She became silent. Thyrza had drawn a chair to the table. One saw that she had risen with difficulty--that she with difficulty sat upright.. Gilbert, without speaking, went and sat by her. Lydia was dreading questions, but she did injustice to the delicacy of his mind. Mrs. Grail just said: Youre very pale still, dear, and nothing more.. The meal was made as short as possible. Then Lydia helped Mrs. Grail to take the things to the kitchen. Thyrza, before coming down, had asked to be left alone with Gilbert for a few minutes.. Grail was at the window, watching the rain. He heard Thyrza approaching him, and turned.. Gilbert, she said, without raising her eyes, Im behaving very unkindly to you. Will you forgive me?. How are you behaving unkindly, Thyrza? ...
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Key to Acronyms: 3TC = lamivudine; ABC = abacavir; Al = aluminum; ARV = antiretroviral; ATV = atazanavir; BIC = bictegravir; Ca = calcium; COBI = cobicistat; CYP = cytochrome P; DOR = doravirine; DRV = darunavir; DTG = dolutegravir; EFV = efavirenz; ETR = etravirine; EVG = elvitegravir; Fe = iron; FPV = fosamprenavir; FTC = emtricitabine; INSTI = integrase strand transfer inhibitor; LPV = lopinavir; MATE = multidrug and toxin extrusion transporter; Mg = magnesium; MVC = maraviroc; NNRTI = non-nucleoside reverse transcriptase inhibitors; NRTI = nucleoside reverse transcriptase inhibitors; NVP = nevirapine; OCT2 = organic cation transporter 2; OATP = organic anion-transporting polypeptide; PK = pharmacokinetic; PI = protease inhibitor; RAL = raltegravir; RPV = rilpivirine; RTV = ritonavir; SQV = saquinavir; T-20 = enfuvirtide; TAF = tenofovir alafenamide; TDF = tenofovir disoproxil fumarate; TPV = tipranavir; UGT = uridine diphosphate glucuronosyltransferase; ZDV = zidovudine; Zn = zinc ...
No treatment is needed for physiologic jaundice. For breast milk jaundice and other types of nonphysiologic jaundice, phototherapy can be used. Phototherapy, which consists of exposing the infant... more
Question - Diagnosed with jaundice. Bilirubin levels not decreasing. Diagnosed as gilberts syndrome.Passing yellow urine. Solution?. Ask a Doctor about diagnosis, treatment and medication for Jaundice, Ask a Gastroenterologist
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Cockayne syndrome type II
These pivotal data from STARTVerso™ are important for Boehringer Ingelheims HCV portfolio as they support the filing of a New Drug Application for faldaprevir with the Food and Drug Administration," said Peter Piliero, M.D., vice president, Clinical Development and Medical Affairs, Boehringer Ingelheim Pharmaceuticals, Inc. "These results take us a step closer towards our goal of making faldaprevir available for patients who urgently need HCV treatment." In the STARTVerso™ clinical trial program, adverse events (AEs) most commonly included nausea, fatigue, diarrhea, headache, anemia, weakness, rash and jaundice due to transient bilirubin elevation (unconjugated hyperbilirubinemia). In STARTVerso™1&2, anemia occurred in 14%, 13%, and 14% of patients taking 120mg and 240mg faldaprevir regimens or PegIFN/RBV alone, respectively. Hyperbilirubinemia occurred in 12% (120mg), 46% (240mg) and less than 1% (PegIFN/RBV) of patients, and was transient. ALT elevations in the faldaprevir arms were ...
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Gilbert & George: Gilbert & George, British collaborative team made up of Gilbert Proesch (b. Sept. 17, 1943, Dolomites, Italy) and George Passmore (b. Jan. 8, 1942, Plymouth, Devon, Eng.),
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CNBCs Power Lunch team is joined by Bill Baruch of Blue Line Futures and Stacey Gilbert of Susquehanna to discuss why energy stocks are soaring and how investors should respond to the action.
Cleveland won the No. 1 overall pick, which the team later used to select All-Star guard Kyrie Irving and help offset the loss of LeBron James as a free agent. Wearing a bowtie and dark-rimmed glasses at the event, the then-14-year-old Gilbert cracked "Whats not to like?" when asked how it felt that his dad considered him his "personal hero.". ...
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Following a decision that split judges and fans, winner and still champion, Gilbert Melendez talks to Showtime Sports about his five-round fight to defeat Jo...
The second is called Gilberts Disease, which I find ironic in that my grandmothers maiden name was Gilbert. This condition is benign and the worst that can really happen is I turn orange from time to time. What it does is cause my liver (see a pattern here?) to not process bilirubin like it should. Again, no big deal ...
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What kind of thing is neoliberalism? This collection of essays, edited by Jeremy Gilbert, explores a range of answers to this question...
An example is Crigler-Najjar syndrome. UGT1A1 gene mutations causes the condition. As a result, there can be reduced ... "Crigler-Najjar syndrome". Genetics Home Reference. http://www.som.tulane.edu/classware/pathology/medical_pathology/New_for_99/ ...
Childs studied the genetics of adrenal hyperplasia, Crigler-Najjar syndrome, and propionic acidemia. He is known for his ...
Discoverer of the genetic bases of inherited jaundice (Crigler-Najjar syndrome and Gilbert Syndrome). 1. H E Mr. Rajkeswur ...
... that leads to Crigler-Najjar syndrome. Crigler-Najjar syndrome is a disorder that disrupts normal processing and excretion of ...
This animal model has been extremely valuable for the development of experimental treatments for Crigler-Najjar syndrome.. ...
Autosomal recessive knockouts of UDP-glucuronyl-transferase can lead to Crigler-Najjar syndrome and elevations of unconjugated ... It is also decreased in nephrotic syndrome, where it is lost through the urine. The consequence of low albumin can be edema ... About 5% of the population has Gilbert's syndrome, a mutation (or variation) in the UDP-glucuronyl-transferase promotor that ... Defects in CMOAT (MRP2) results in Dubin-Johnson syndrome and elevations of conjugated bilirubin. Neonates are especially ...
Crigler-Najjar syndrome, type I -218800 Online Mendelian Inheritance in Man (OMIM) Crigler-Najjar syndrome, type II -606785 ... usually the level of total serum bilirubin in Gilbert syndrome patients vary from 1 to 6 mg/dL). Crigler-Najjar syndrome, type ... Crigler-Najjar syndrome, type II is associated with other mutation(s) that lead to a reduced activity of the mutated UGT1A1 ... causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype". Hum. Mutat. 16 (4): 297-306. doi:10.1002/ ...
"Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2". ... "Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type ... of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I ...
... causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype". Hum. Mutat. 16 (4): 297-306. doi:10.1002/ ...
In the Crigler-Najjar syndrome and the Gilbert syndrome, UDPGT activity is reduced or nearly absent due to mutations, resulting ... resulting in gray baby syndrome. Bilirubin is excreted in the bile as bilirubin diglucuronide (80%), bilirubin monoglucuronide ...
... and Crigler-Najjar Syndrome. These cells are being looked at by scientists as a new and more effiecient way to treat diseases ...
... is occasionally prescribed in low doses to aid in the conjugation of bilirubin in people with Crigler-Najjar syndrome (Type II ... or in patients with Gilbert syndrome[citation needed]. Phenobarbital can also be used to relieve cyclic vomiting syndrome ... It is also used to treat feline hyperesthesia syndrome in cats when antiobsessional therapies prove ineffective. It may also be ... Phenobarbital is used as a secondary agent to treat newborns with neonatal abstinence syndrome, a condition of withdrawal ...
Jaundice Bilirubin metabolism Gilbert's syndrome Crigler-Najjar syndrome Online Mendelian Inheritance in Man (OMIM) 237450 ... Rotor syndrome has many features in common with Dubin-Johnson syndrome, an exception being that the liver cells are not ... Rotor syndrome is inherited in an autosomal recessive manner. The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. ... It can be differentiated from Dubin-Johnson syndrome in the following ways: It has been suggested that Rotor Syndrome may ...
... and Crigler-Najjar syndrome, Type I and II.Template:Almostadoctor.co.uk Laboratory findings depend on the cause of jaundice. ... Commonly, diseases of the kidney, such as hemolytic uremic syndrome, can also lead to coloration. In jaundice secondary to ... A rare cause of obstructive jaundice is Mirizzi's syndrome (gallstone impaction in the cystic duct or gallbladder neck, with ... Defects in bilirubin metabolism also leads to jaundice, as in Gilbert's syndrome (a genetic disorder of bilirubin metabolism ...
... bilirubin from serum albumin Crigler-Najjar syndrome type I Gilbert's syndrome G6PD deficiency Bruising Gilbert's syndrome and ... "The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels". British Journal of Haematology. ...
Crigler-Najjar syndrome (CNS), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The children receiving treatment at ... The clinic treats about 1,200 active patients for over 150 genetic disorders or syndromes such as glutaric aciduria (GA1), ... Some Amish are afflicted by heritable genetic disorders, including dwarfism (Ellis-van Creveld syndrome), and are also ...
Gilbert's disease or Crigler-Najjar syndrome). Unconjugated hyperbilirubinemia does not typically cause pruritus. It is thought ...
More severe types of glucuronyl transferase disorders such as Crigler-Najjar syndrome (types I and II) are much more severe, ... However, Gilbert's syndrome has been linked to an increased risk of gallstones. Gilbert's syndrome is a phenotypic effect, ... Gilbert's syndrome at NIH's Office of Rare Diseases Gilbert's Syndrome BMJ Best Practices monograph. ... Dubin-Johnson syndrome and Rotor syndrome are rarer autosomal recessive disorders characterized by an increase of conjugated ...
It is also associated with Crigler-Najjar syndrome, a more serious disorder where the enzyme's activity is either completely ... Crigler-Najjar syndrome type I) or less than 10% of normal (type II). Infants may have a developmental deficiency in UDP- ... This leads to a condition known as gray baby syndrome. Human genes which encode UGT enzymes include: B3GAT1, B3GAT2, B3GAT3 ... A deficiency in the bilirubin specific form of glucuronosyltransferase is thought to be the cause of Gilbert's syndrome, which ...
... jaundice Cephalohematoma Polycythemia Urinary tract infection Sepsis Hypothyroidism Gilbert's syndrome Crigler-Najjar syndrome ... Syndrome Rotor syndrome Drugs Total parenteral nutrition Idiopathic Biliary atresia or bile duct obstruction Alagille syndrome ... Alagille syndrome, alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for ...
... haemochromatosis Wilson's disease Gilbert's syndrome Crigler-Najjar syndrome Dubin-Johnson syndrome Rotor's syndrome chronic ... Liver damage is part of Reye's syndrome. Malignant neoplasm of liver and intrahepatic bile ducts. The most frequent forms are ... chronic alcohol abuse or chronic toxic liver disease may cause liver failure and hepatorenal syndrome fibrosis and cirrhosis of ... excluding postcholecystectomy syndrome), but including other obstructions of the gallbladder (like strictures) hydrops, ...
... a region of DNA that is conserved through evolution and does not code for proteins Crigler-Najjar syndrome, rare hereditary ...
... such as Dubin-Johnson syndrome and Rotor syndrome. Although Gilbert's syndrome and Crigler-Najjar syndrome are characterized by ...
Liver transplantation with monosegments Auxiliary Partial Orthotopic Liver Transplantation for Crigler-Najjar Syndrome Type I ...
... also linked to Crigler-Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey-Driscoll ... Lucey-Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is ... "Lucey-Driscoll syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ...
Gilbert's syndrome. *Crigler-Najjar syndrome. *Lucey-Driscoll syndrome. conjugated:. *Dubin-Johnson syndrome ...

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