Crigler najjar syndrome. Medical search

A characteristic symptom complex.

A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)

A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.

Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.

A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.

An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.

A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.

An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)

A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.

Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.

A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)

The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).

A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)

An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.

A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.

A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.

A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.

A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.

A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.

Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.

A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.

Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.

An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.

A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.

A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.

The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.

A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.

Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.

A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).

A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.

An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.

Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).

Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Symptom complex due to ACTH production by non-pituitary neoplasms.

A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.

A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.

A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)

A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.

Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.

An infant during the first month after birth.

A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.

An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.

A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)

Mandibulofacial dysostosis with congenital eyelid dermoids.

A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.

A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).

A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.

A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)

Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.

Biochemical identification of mutational changes in a nucleotide sequence.

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.

Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.

A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

Congenital absence of or defects in structures of the eye; may also be hereditary.

Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.

A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)

A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)

Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.

Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.

A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)

Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.

Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.

Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.

A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

Elements of limited time intervals, contributing to particular results or situations.

The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.

A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.

A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)

A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.

An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.

Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.

A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.

A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.

A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.

A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

The magnitude of INBREEDING in humans.

A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.

Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)

A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.

A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.

Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.

A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.

Disease having a short and relatively severe course.

A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.

Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.

Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.

Actual loss of portion of a chromosome.

Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia.

A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)

Mapping of the KARYOTYPE of a cell.

Genes that influence the PHENOTYPE only in the homozygous state.

An individual having different alleles at one or more loci regarding a specific character.

A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

Congenital craniostenosis with syndactyly.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)

Tomography using x-ray transmission and a computer algorithm to reconstruct the image.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).

Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.

General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.

Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).

Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

Abnormally small jaw.

Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.

A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.

A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.

A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.

Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased.

The possession of a third chromosome of any one type in an otherwise diploid cell.

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.

Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.

A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.

Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.

An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis.

A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.

Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

Congenital structural deformities of the upper and lower extremities collectively or unspecified.

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)

... only a few causes of Crigler-Najjar syndrome are known.[citation needed] Signs and symptoms of Crigler-Najjar syndrome include ... Crigler-Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the ... These two types, along with Gilbert's syndrome, Dubin-Johnson syndrome, and Rotor syndrome, make up the five known hereditary ... brain damage and before phototherapy becomes ineffective at later age The inheritance patterns of both Crigler-Najjar syndrome ...

https://en.wikipedia.org/wiki/Crigler–Najjar_syndrome

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. Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL (August 1989). " ... Syndromes, Heme metabolism disorders, Hepatology, All stub articles, Genetic disorder stubs, Endocrine, nutritional and ...

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

"Crigler-Najjar Syndrome: The Gunn rat". criglernajjar.altervista.org. v t e (Laboratory rat strains, All stub articles, Rodent ... This animal model has been extremely valuable for the development of experimental treatments for Crigler-Najjar syndrome. " ...

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

Jaundice Gilbert's syndrome Crigler-Najjar syndrome "Dubin-Johnson syndrome , Genetic and Rare Diseases Information Center ( ... Strassburg CP (2010). "Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome ... Dubin-Johnson syndrome at MedlinePlus.gov Dubin-Johnson syndrome at Medline Plus encyclopedia Dubin-Johnson syndrome at NIH's ... In case of Dubin-Johnson syndrome, clearance of bromsulphthalein will be within 90 minutes, while in case of Rotor syndrome, ...

https://en.wikipedia.org/wiki/Dubin–Johnson_syndrome

Along with John Fielding Crigler, Najjar is known for Crigler-Najjar syndrome. He was born on 15 April 1914 in Beirut. He ... Victor Assad Najjar (1914-2002) was a Lebanese-born American pediatrician and microbiologist at the Johns Hopkins Hospital, ... Najjar died on 30 November 2002 in Nashville, Tennessee. Dorland's Illustrated Medical Dictionary "Whonamedit - dictionary of ... VANDERBILT UNIVERSITY MEDICAL CENTER'S WEEKLY NEWSPAPER-Najjar, former chair of Microbiology, dies Nov. 30 Portals: Medicine ...

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

Along with Victor Assad Najjar, Crigler is known for Crigler-Najjar syndrome. He studied medicine at the Duke University School ... "Victor Assad Najjar". Who Named It?. "John Fielding Crigler". Who Named It?. Crigler JF Jr, Najjar VA (February 1952). " ... John Fielding Crigler (11 September 1919 - 13 May 2018) was an American pediatrician. ...

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

Childs studied the genetics of adrenal hyperplasia, Crigler-Najjar syndrome, and propionic acidemia. He is known for his ...

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

... he was diagnosed to have Crigler Najjar Syndrome and was admitted to the Apollo Hospital, Delhi. The youngster wished to meet ...

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

Her laboratory was the first to identify a genetic defect in the gene UGT1A1 that leads to Crigler-Najjar syndrome. Crigler- ... Najjar syndrome is a disorder that disrupts normal modification and excretion of bilirubin, leading to jaundice. Owens' ...

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

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: Rotor syndrome may exacerbate toxic side effects of ...

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

Gilbert's syndrome and Crigler-Najjar syndrome have defects in the UDP-glucuronyl-transferase enzyme, affecting bilirubin ... In Dubin-Johnson syndrome, a mutation in multiple drug-resistance protein 2 (MRP2) causes a rise in conjugated bilirubin. In ... In hyperemesis gravidarum, GGT level value can reach 45 IU/L, 17 IU/L in pre-eclampsia, and 35 IU/L in HELPP syndrome. Albumin ... Bright liver syndrome (bright liver on ultrasound suggestive of fatty liver) with raised ALT is suggestive of metabolic ...

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

This pathology is shared by another genetic disorder, Crigler-Najjar syndrome, which is subdivided into two types: type 1 (CN-1 ... Bhandari, Jenish; Thada, Pawan K.; Yadav, Deepak (2022), "Crigler Najjar Syndrome", StatPearls, Treasure Island (FL): ... "Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect". ... Dubin-Johnson syndrome and Rotor's syndrome, both rare hereditary metabolic defects characterized by synthesis of faulty ...

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

... causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype". Human Mutation. 16 (4): 297-306. doi: ... In Crigler Najjar disease, there is an inherited deficiency of glucuronyl transferase resulting in high concentrations of ... In Dubin-Johnson syndrome, impaired biliary excretion of bilirubin glucuronide is due to a mutation in the canalicular multiple ... Dubin-Johnson syndrome is associated with inability of the hepatocytes to secrete conjugated bilirubin after it has been formed ...

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

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/ ...

https://en.wikipedia.org/wiki/UDP_glucuronosyltransferase_1_family,_polypeptide_A1

"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 ...

https://en.wikipedia.org/wiki/UGT1A6

Severe liver failure with cirrhosis (e.g. primary biliary cirrhosis) Crigler-Najjar syndrome Dubin-Johnson syndrome ... studies on bilirubin Babesiosis Biliary atresia Bilirubin diglucuronide Biliverdin Crigler-Najjar syndrome Gilbert's syndrome, ... Mild rises in bilirubin may be caused by: Hemolysis or increased breakdown of red blood cells Gilbert's syndrome - a genetic ... Schwertner HA, Vítek L (May 2008). "Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective ...

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

... causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype". Hum. Mutat. 16 (4): 297-306. doi:10.1002/ ...

https://en.wikipedia.org/wiki/UGT1A9

https://en.wikipedia.org/wiki/UGT1A4

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 glucuronide (20 ...

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

... first described Crigler-Najjar syndrome William Nyhan - pediatrician, described Lesch-Nyhan syndrome William Osler - Father of ... cardiovascular surgeon John Fielding Crigler - pediatrician; first described Crigler-Najjar syndrome[citation needed] Thomas ... described Lesch-Nyhan syndrome Bart Loeys - pediatric geneticist; described Loeys-Dietz syndrome[citation needed] Howard Markel ... described Li-Fraumeni syndrome; trained at Johns Hopkins Irwin Freedberg - former Director of Dermatology Ernest William ...

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

... 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. ... "Lucey-Driscoll syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". Online Mendelian Inheritance ...

https://en.wikipedia.org/wiki/Lucey–Driscoll_syndrome

... and Crigler-Najjar syndrome. These cells are being looked at by scientists as a new and more efficient way to treat diseases of ...

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

... including for Crigler-Najjar syndrome, using Moderna's mRNA therapeutics platform. Although Moderna CEO Stéphane Bancel ... In September 2011, the FDA approved the use of Soliris as a treatment for atypical hemolytic-uremic syndrome in both adults and ... Soliris was tested as a treatment option because of its effectiveness in treating atypical hemolytic uremic syndrome, an ... In June 2010, there was an outbreak of hemolytic-uremic syndrome caused by Shigatoxigenic and verotoxigenic Escherichia coli ( ...

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

... including for Crigler-Najjar syndrome, using Moderna's mRNA therapeutics platform. Although CEO Bancel expected the platform to ...

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

... is occasionally prescribed in low doses to aid in the conjugation of bilirubin in people with Crigler-Najjar syndrome, type II ... or in people with Gilbert's syndrome. Phenobarbital can also be used to relieve cyclic vomiting syndrome symptoms. ... It is also used to treat feline hyperesthesia syndrome in cats when anti-obsessional therapies prove ineffective. It may also ... Phenobarbital is used as a secondary agent to treat newborns with neonatal abstinence syndrome, a condition of withdrawal ...

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

Crigler-Najjar syndrome, type I Crigler-Najjar syndrome, type II Leptospirosis Posthepatic jaundice (obstructive jaundice), is ... genetic conditions such as Gilbert's syndrome, not eating for a prolonged period of time, newborn jaundice, or thyroid problems ... Acute hepatitis Chronic hepatitis Hepatotoxicity Cirrhosis Drug-induced hepatitis Alcoholic liver disease Gilbert's syndrome ( ... deficiency Pyruvate kinase deficiency ABO/Rh blood type autoantibodies Alpha 1-antitrypsin deficiency Alagille syndrome ( ...

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

... displaces bilirubin from serum albumin Crigler-Najjar syndrome, type I G6PD deficiency Bruising Gilbert's syndrome and G6PD ... Cappellini MD, Di Montemuros FM, Sampietro M, Tavazzi D, Fiorelli G (1999). "The interaction between Gilbert's syndrome and ... Cerebral palsy and other paralytic syndromes, Neonatology, Rare diseases). ...

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

Victor Assad Najjar, Lebanese pediatrician and microbiologist known for Crigler-Najjar syndrome[citation needed] Waleed Al- ... Nadia Awni Sakati, Syrian pediatrician known for Sakati-Nyhan-Tisdale syndrome, Sanjad-Sakati syndrome and Woodhouse-Sakati ... Amin J. Barakat, Lebanese-American physician, known for the diagnosis Barakat syndrome. Abbas El Gamal, Egyptian electrical ... syndrome. Nayef Al-Rodhan, Saudi philosopher, neuroscientist, geostrategist, an Honorary Fellow of St. Antony's College at ...

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

Gilbert's disease or Crigler-Najjar syndrome). Unconjugated hyperbilirubinemia does not typically cause pruritus. It is thought ...

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

More severe types of glucuronyl transferase disorders such as Crigler-Najjar syndrome (types I and II) are much more severe, ... Understanding Gilbert's Syndrome and living better with Gilbert's Syndrome symptoms Gilbert's syndrome at NIH's Office of Rare ... Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the ... Gilbert syndrome has been reported to contribute to an accelerated onset of neonatal jaundice. The syndrome cannot cause severe ...

https://en.wikipedia.org/wiki/Gilbert's_syndrome

Creutzfeldt-Jakob disease Cri du chat Crigler-Najjar syndrome Crisponi syndrome Criss cross syndrome Criswick-Schepens syndrome ... CCA syndrome Ccge syndrome CCHS CDG syndrome CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

PRNP Crigler-Najjar syndrome type I; 218800; UGT1A1 Crigler-Najjar syndrome type II; 606785; UGT1A1 Crisponi syndrome; 601378; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...

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

... known for the Crigler-Najjar syndrome Moudi Najjar Noore Najjar, a fictional character from 2014 Ubisoft video game Far Cry 4 ... Notable people with surnames Najjar, al-Najjar, or al-Najar include: Habib Al-Najjar (c. AD 5-40), or Saint Habib the Carpenter ... Najjar (1952-2020), Lebanese businessman Rouzan al-Najjar, Palestinian nurse assisting injured Palestinians accidentally hit by ... Jesus's legal fathe Ibn Al Najjar a hanbali scholar of sunni islam Aida Najjar (1938-2020), Palestinian-Jordanian writer Ammar ...

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

Congenital hypothyroidism Crigler-Najjar types I/II Dementia with Lewy bodies Ehlers-Danlos syndrome Ehlers-Danlos syndrome, ... 2p15-16.1 microdeletion syndrome Autism Alport syndrome Alström syndrome Amyotrophic lateral sclerosis Brachydactyly type D ... Sensenbrenner syndrome Synesthesia Waardenburg syndrome G-banding ideograms of human chromosome 2 "Human Genome Assembly GRCh38 ... classical type Ehlers-Danlos syndrome, vascular type Fibrodysplasia ossificans progressiva Gilbert's syndrome Harlequin type ...

https://en.wikipedia.org/wiki/Chromosome_2

CREST syndrome Cri du chat Crigler-Najjar syndrome Crome syndrome Cronkhite-Canada syndrome Cross syndrome Crouzon syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...

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

Crigler-Najjar syndrome MeSH C18.452.648.437.528 - gilbert disease MeSH C18.452.648.499 - jaundice, chronic idiopathic MeSH ... MELAS syndrome MeSH C18.452.100.100.540 - Menkes kinky hair syndrome MeSH C18.452.100.100.545 - MERRF syndrome MeSH C18.452. ... MELAS syndrome MeSH C18.452.648.151.450 - menkes kinky hair syndrome MeSH C18.452.648.151.505 - MERRF syndrome MeSH C18.452. ... Li-Fraumeni syndrome MeSH C18.452.284.600 - Nijmegen breakage syndrome MeSH C18.452.284.760 - Rothmund-Thomson syndrome MeSH ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)

Crigler-Najjar syndrome MeSH C16.320.565.437.528 - Gilbert disease MeSH C16.320.565.499 - jaundice, chronic idiopathic MeSH ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ... branchio-oto-renal syndrome MeSH C16.320.180.190 - cri du chat syndrome MeSH C16.320.180.210 - De Lange syndrome MeSH C16.320. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)

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- ... A deficiency in the bilirubin specific form of glucuronosyltransferase is thought to be the cause of Gilbert's syndrome, which ... This leads to a condition known as gray baby syndrome. Causes of unconjugated hyperbilirubinemia are divided into three main ...

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

Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood ( ... medlineplus.gov/genetics/condition/crigler-najjar-syndrome/ Crigler-Najjar syndrome. ... Crigler-Najjar syndrome is inherited in an autosomal recessive pattern. , which means both copies of the UGT1A1 gene in each ... Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood ...

https://medlineplus.gov/genetics/condition/crigler-najjar-syndrome

Crigler-Najjar syndrome type 2. Crigler-Najjar syndrome type 2 results in lower bilirubin concentrations than does type I, with ... liver tissue reveals absent UGT activity in Crigler-Najjar syndrome type 1 and diminished activity in Crigler-Najjar syndrome ... Crigler-Najjar Syndrome. Although no simple, widely available clinical test is available to confirm the diagnosis of Crigler- ... Gilberts syndrome phenotypically expressed as Crigler-Najjar syndrome type II. Scand J Gastroenterol. 2007 Apr. 42(4):540-1. [ ...

https://www.medscape.com/answers/178841-68053/how-is-crigler-najjar-syndrome-diagnosed

Crigler-Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin ... Learn and reinforce your understanding of Crigler-Najjar syndrome. Check out our video library. ... Crigler-Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin. It is caused by an absent UDP- ...

https://www.osmosis.org/learn/Crigler-Najjar_syndrome?from=/md/foundational-sciences/pathology/gastrointestinal-system/liver,-gallbladder-and-pancreas-disorders/liver-disorders

ERN RARE-LIVER is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/health/ern. The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body or agency of the European Union.. ...

https://rare-liver.eu/healthcare-professionals/disease-specific-information/crigler-najjar-syndrome

... Knowledgebase of inborn errors of metabolism ... CRIGLER-NAJJAR SYNDROME TYPE I. Disease. CRIGLER-NAJJAR SYNDROME TYPE I Synonym. CRIGLER-NAJJAR SYNDROME; UDP- ...

https://www.metagene.de/diseases/CRIGLER-NAJJARSYNDROMETYPEI.html

Crigler Najjar syndrome. , type 1 is an inherited. disorder in which bilirubin, a substance made by the liver, cannot be broken ... and damage to the brain, muscles, and nerves.[1] Crigler Najjar syndrome, type 1 is caused by mutations. in the UGT1A1 gene. . ... PubMed is a searchable database of medical literature and lists journal articles that discuss Crigler Najjar syndrome, type 1. ... MedlinePlus Genetics contains information on Crigler Najjar syndrome, type 1. This website is maintained by the National ...

https://www.rarepulmonologynews.com/rarediseases/crigler-najjar-syndrome-type-1/

Crigler-Najjar syndrome. * Arias syndrome. * Gilbert syndrome. * Immune hemolytic anemia. * Nonimmune hemolytic anemia ...

https://emedicine.medscape.com/article/974786-differential

Crigler-Najjar syndrome (E80.5). *Dubin-Johnson syndrome (E80.6). *Gilbert syndrome (E80.4). *hereditary hemolytic anemias (D55 ...

https://www.icd10data.com/ICD10CM/Codes/P00-P96/P50-P61/P55-/P55.0

Our cases presented high bilirubin values, overlapping between Gilbert syndrome (GS) and Crigler-Najjar syndrome type II (CNS ... contrary to what happens in Crigler-Najjar syndrome type II. ... From: Gilbert or Crigler-Najjar syndrome? Neonatal severe ...

https://ijponline.biomedcentral.com/articles/10.1186/s13052-022-01251-4/figures/2

Gene therapy for Crigler-Najjar syndrome - First patient treated in the European clinical trial. Posted on: 25 December 2018, ...

http://genetherapynet.com/gene-therapy-news.html?start=60

Total knee arthroplasty and Crigler-Najjar syndrome: a case report. Walmsley D, Alzaharani K, Coke WJ, Gandhi R. Walmsley D, et ...

https://pubmed.ncbi.nlm.nih.gov/?term=Coke+W&cauthor_id=23245809

Crigler-Najjar syndrome, a condition that affects the enzymes that process bilirubin ...

https://www.medicalnewstoday.com/articles/165749

Crigler Najjar syndrome. *Drug-induced liver injury. *Gallstone disease *TPN associated liver injury ... Hepatopulmonary syndrome. In addition, we manage the full range of primary pediatric liver diseases, including but not limited ... Progressive familial intrahepatic cholestasis syndrome including but not limited to FIC1 deficiency, BSEP deficiency, and MDR3 ...

https://uvahealth.com/locations/profile/neurosurgery-haymarket

... he was diagnosed to have Crigler Najjar Syndrome and was admitted to the Apollo Hospital, Delhi. The youngster wished to meet ...

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

A translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome. Mol Ther - ...

https://www.nature.com/articles/s41434-020-00218-6?error=cookies_not_supported&code=31fd59d9-5fec-43fd-9725-359b888ac529

Familial nonhemolytic unconjugated hyperbilirubinemia, see Crigler-Najjar syndrome. *Familial nonpolyposis colon cancer, see ... Faciooculoacousticorenal syndrome, see Donnai-Barrow syndrome. *Faciopalatoosseous syndrome, see Otopalatodigital syndrome type ... Finlay-Marks syndrome, see Scalp-ear-nipple syndrome. *Finnish lactic acidosis with hepatic hemosiderosis, see GRACILE syndrome ... Facio-digito-genital dysplasia, see Aarskog-Scott syndrome. *Facio-genito-popliteal syndrome, see Popliteal pterygium syndrome ...

https://medlineplus.gov/genetics/condition-f/

Crigler-Najjar syndrome: AAV8. *Haemophilia A + B: AAV5. + AAV6. + AAV8. Muscle(2),(4),(7). *A1At deficiency: AAV2. ...

https://www.antibodies-online.com/areas/aav-in-gene-therapy/

Crigler-Najjar syndrome types 1 and 2. Gilbert syndrome. Hypothyroidism. Breast-milk jaundice. G6PD deficiency. *. Biliary ... Crigler-Najjar syndrome types 1 and 2, hypothyroidism, Gilbert syndrome, and glucose-6-phosphate dehydrogenase deficiency (G6PD ... Neonatal Respiratory Distress Syndrome: Things to Consider and Ways to Manage. By Bita Najafian and Mohammad Hossein Khosravi ... Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E. Gilbert syndrome and glucose-6-phosphate dehydrogenase ...

https://www.intechopen.com/chapters/67757

Gilberts syndrome or Crigler and Najjar syndrome), or with hepatic infections that have caused decreased capacity to detoxify ...

https://wwwn.cdc.gov/TSP/PHA/PHAHTMLDisplay.aspx?docid=930&pg=2

Crigler-Najjar syndrome : Treatment. March 3, 2011 Uveitis: Overview, Causes. January 10, 2011 ...

https://www.health32.com/erythroblastosis-fetalis-symptoms-signs-diagnosis-tests/

Crigler-Najjar syndrome Congenital unconjugated hyperbilirubinemia Curlings ulcer Acute gastric ulcer associated with severe ...

https://www.cram.com/flashcards/board-aid-step-1-buzz-words-436486

Persons with incompletely developed glucuronide conjugation mechanisms (such as Gilbert syndrome or Crigler-Najjar syndrome) ...

https://www.atsdr.cdc.gov/csem/polychlorinated-biphenyls/who_risk.html

An exception is undersecretion of bilirubin due to metabolic factors (eg, Crigler-Najjar syndrome, hypothyroidism, drugs), ... Syndromes Cerebral palsy refers to nonprogressive syndromes characterized by impaired voluntary movement or posture and ...

https://www.merckmanuals.com/en-pr/professional/pediatrics/metabolic,-electrolyte,-and-toxic-disorders-in-neonates/neonatal-hyperbilirubinemia

Crigler Najjar syndrome, type 2 6.87. × References/Inference Genes * References * Inference genes ...

https://selfdecode.com/chemical/naringenin-chalcone/

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Genetic heterogeneitiy of Crigler-Najjar syndrome type I: A study of 14 cases. Labrune, P., Myara, A., Hadchouel, M., Ronchi, F ... Hemorrhagic shock and encephalopathy syndrome and heatstroke: A physiologic comparison of two entities. Zuckerman, G. B., ...

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Crigler-Najjar Syndrome. ++. Crigler-Najjar syndrome exists in two forms, types I and II.9 Type I is more severe, the result of ... Crigler-Najjar and Gilbert syndromes result from defects in glucuronidation, and Dubin-Johnson syndrome results from defects in ... Crigler-Najjar syndrome type II is the result of genetic abnormalities in the bilirubin UDP-GT gene that lead to partial ... Kernicterus is a serious potential complication for children with Crigler-Najjar syndrome type I and can occur at any time in ...

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Interestingly, type 1 Crigler-Najjar syndrome, a genetic deficiency in hepatic UGT1A1, is a metabolic disorder treated by ...

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Crigler-Najjar syndrome (disorder). Code System Preferred Concept Name. Crigler-Najjar syndrome (disorder). ...

https://phinvads.cdc.gov/vads/ViewCodeSystemConcept.action?oid=2.16.840.1.113883.6.96&code=28259009

Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). (medlineplus.gov)
People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). (medlineplus.gov)
Although no simple, widely available clinical test is available to confirm the diagnosis of Crigler-Najjar syndrome, unconjugated hyperbilirubinemia in the presence of normal liver function test findings is characteristic of the disease. (medscape.com)
They are therefore ideal for treating new born babies suffering from hyperbilirubinemia (neonatal jaundice) and Crigler-Najjar Syndrome (CNS). (vedgroup.net)
Strassburg C.P. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome)//Best Practice & Research Clinical Gastroenterology. (readera.org)
Gilbert's syndrome, also known as familial nonhemolytic jaundice or hyperbilirubinemia 1, is a common, benign genetic hepatic dysfunction that occurs when the liver does not process bilirubin correctly (the liver is not able to degrade bilirubin). (geneticsdigest.com)
Therefore, this syndrome is characterized by an excess of bilirubin (a product of red blood cells) in the blood, a condition known as hyperbilirubinemia. (geneticsdigest.com)
Patients with Gilbert's syndrome have a reduced level of this crucial hepatic enzyme required for elimination of bilirubin, and therefore, they have elevated levels of bilirubin (hyperbilirubinemia). (geneticsdigest.com)
Thus, people having Gilbert's syndrome possess a reduced level of this enzyme required for the elimination of bilirubin, and therefore, they have elevated levels of bilirubin (hyperbilirubinemia). (geneticsdigest.com)
Additional types of mutations in the UGT1A1 gene can cause a syndrome known as Crigler-Najjar syndrome, which is a more dangerous and severe form of hyperbilirubinemia. (geneticsdigest.com)

A less severe condition called Gilbert syndrome can occur when one copy of the UGT1A1 gene has a mutation. (medlineplus.gov)
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. (medlineplus.gov)
Gilbert or Crigler-Najjar syndrome? (biomedcentral.com)
Persons with incompletely developed glucuronide conjugation mechanisms (such as Gilbert syndrome or Crigler-Najjar syndrome) have impaired liver function, as do persons with chronic liver diseases such as cirrhosis or hepatitis B [Calabrese et al. (cdc.gov)
The same is true of Gilbert syndrome and Crigler-Najjar syndrome, an inherited metabolic disease of hemoglobin. (healthandmedicineinfo.com)
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population/A. Tsezou, M. Tzetis, E. Giannatou, I. Spanos, E. Roma, A. Fretzayas //Genet. (readera.org)
Gilbert syndrome (GS) is characterised by a lifelong genetically determined elevation of plasma unconjugated bilirubin levels. (bmj.com)

7 Moreover, these rats enjoy better glucose tolerance, reduced oxidative stress and decreased serum levels of proinflammatory cytokines, suggesting that metabolic syndrome and systemic inflammation are ameliorated in such rats. (bmj.com)

There may be inherited genetic problems with the enzymes that convert or break down bilirubin - these include rare conditions such as Crigler-Najjar syndrome , Gilbert's syndrome , galactosaemia and tyrosinaemia. (findmeacure.com)
Liver problems that cause jaundice include liver cirrhosis, hepatitis, liver cancer, or Gilbert's syndrome. (simple-remedies.com)
The genetic basis of Gilbert's Syndrome: an overview. (geneticsdigest.com)
What is Gilbert's Syndrome? (geneticsdigest.com)
Other symptoms that have been associated with Gilbert's syndrome include abdominal pain, fatigue, and weakness. (geneticsdigest.com)
Overall, Gilbert's syndrome is estimated to occur in 3-7% of the general population in the USA and is much more common among males than females. (geneticsdigest.com)
Which is the role of genes in the development of Gilbert's Syndrome? (geneticsdigest.com)
Gilbert's syndrome is caused by a modification in the DNA (known as mutation) of the gene known as uridine diphosphate-glucuronosyltransferase-1A1 (UGT1A1). (geneticsdigest.com)
Therefore, patients with Gilbert's syndrome have a deficiency of the UGT enzyme, and therefore, bilirubin is not converted at the standard rate. (geneticsdigest.com)
It is important to underline that although the individuals with Gilbert's syndrome possess around 33% of the regular UGT enzyme activity, they are also able to conjugate enough bilirubin to prevent symptoms from developing. (geneticsdigest.com)
The mutated (abnormal) UGT1A1 gene that causes Gilbert's syndrome is common. (geneticsdigest.com)
However, it is important to underline that two abnormal (mutated) copies of this gene are required to induce Gilbert's syndrome. (geneticsdigest.com)
Therefore, people with only a single abnormal (mutated) gene have higher than normal levels of unconjugated bilirubin but do not have Gilbert's syndrome. (geneticsdigest.com)
The most common genetic mutation (permanent alteration in the DNA sequence) that produces Gilbert's syndrome occurs in an area of DNA near the UGT1A1 gene, known as promoter region, which controls the production of the UGT enzyme. (geneticsdigest.com)
Importantly, it has also been observed that another type of mutation in the UGT1A1 gene can cause Gilbert's syndrome (commonly in Asians populations). (geneticsdigest.com)

Preclinical programs include 13 vaccines for a wide range of applications, including Epstein Barr, flu and COVID-19 and therapeutics for cystic fibrosis and Crigler Najjar syndrome. (casselsalpeter.com)

Dubin-Johnson syndrome: molecular basis and pathogenesis]. (harvard.edu)
For example, jaundice can occur in the context of Dubin-Johnson syndrome or Rotor syndrome. (healthandmedicineinfo.com)

In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. (medlineplus.gov)
They suffer from the Crigler-Najjar syndrome, a liver disease comparable with baby jaundice. (philomeenengels.com)
Crigler-Najjar syndrome and the presence of toxins or drugs in the liver can also cause jaundice. (simple-remedies.com)

Definitive diagnosis of Crigler-Najjar syndrome requires high-performance liquid chromatography of bile or a tissue enzyme assay of a liver biopsy sample. (medscape.com)

Crigler-Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin . (osmosis.org)
Crigler Najjar syndrome , type 1 is an inherited disorder in which bilirubin , a substance made by the liver, cannot be broken down. (rarepulmonologynews.com)

Mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome result in reduced or absent function of the bilirubin-UGT enzyme. (medlineplus.gov)

We are providing an investigational mRNA Crigler-Najjar Syndrome Type 1 therapy (mRNA-3351) to the Institute for Life Changing Medicines (ILCM) free of charge. (modernatx.com)

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and the resulting disease, coronavirus disease 2019 (COVID-19), have spread to millions of persons worldwide. (bvsalud.org)

Except for the presence of high serum unconjugated bilirubin levels, the results of liver tests in Crigler-Najjar syndrome type 1 are normal. (medscape.com)
In addition to these possible causes, a number of different syndromes are also associated with elevated bilirubin levels. (healthandmedicineinfo.com)

Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. (medlineplus.gov)
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. (medlineplus.gov)
[1] Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene . (rarepulmonologynews.com)
This means that DNA mutations in the UGT1A1 gene may be inherited from both parents to develop this syndrome. (geneticsdigest.com)

in the type 2 syndrome, these conjugates are present but in low concentrations. (medscape.com)
Crigler-Najjar syndrome type 2 results in lower bilirubin concentrations than does type I, with levels ranging from 7-20 mg/dL. (medscape.com)
Transferase activity measurements and the response to phenobarbital treatment can also distinguish Crigler-Najjar syndrome type 1 from type 2. (medscape.com)

Direct bilirubin is less than 15% of the total serum bilirubin in Crigler-Najjar syndrome. (medscape.com)

Findings on abdominal imaging studies, such as plain radiography, computed tomography (CT) scanning, and ultrasonography, are normal in Crigler-Najjar syndrome. (medscape.com)

Total knee arthroplasty and Crigler-Najjar syndrome: a case report. (nih.gov)

If presenting with iron deficiency anemia with or without glossitis, Plummer-Vinson syndrome should be considered. (osmosis.org)
Antitrypsin deficiency, tyrosinosis, hypermethioninemia, gilbert disease, crigler najjar syndrome types i or arb use caution in patients with hemorrhagic stroke must then be adjusted to achieve two to three doses, given no more than years and pregnant women and closely follow natural insulin patterns. (umaine.edu)
The institute is now developing therapies for Crigler-Najjar syndrome type 1 and AADC deficiency , two ultra-rare diseases affecting fewer than 150 people worldwide each. (musculardystrophynews.com)

Gilbert syndrome is a hereditary, relatively common, benign, unconjugated hyperbilirubinaemia (high bilirubin levels in the blood). (medic8.com)

Promethera Biosciences, a Belgian biotechnology company developing Promethera(R) HepaStem, a cell-based therapy for the treatment of liver-based metabolic diseases including Crigler-Najjar Syndrome and Urea Cycle Disorders, announces today the completion of patient enrolment for its first clinical trial. (worldpharmatoday.com)
This trial is a prospective, open label, multicenter phase I/II clinical study involving Urea Cycle Disorders (UCD) and Crigler-Najjar (CN) syndrome paediatric patients. (worldpharmatoday.com)

Direct bilirubin is less than 15% of the total serum bilirubin in Crigler-Najjar syndrome. (medscape.com)
Patients with Gilbert syndrome tend to have total serum bilirubin levels from 1-6 mg/dL. (medic8.com)

Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar. (adam.com)
Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have children. (adam.com)
In many populations, the most common genetic change that causes Gilbert syndrome occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. (nih.gov)
The common genetic change involved in Gilbert syndrome, called UGT1A1*28, results from the addition of two DNA building blocks (nucleotides) to an important sequence in the promoter region known as the TATA box. (nih.gov)
18-year-old Maggie Giordano was born with a rare genetic condition called Crigler-Najjar Syndrome (CNS) which prevents her body from producing enough liver enzymes. (grandmashealthykidsclub.com)
Accessory digestive gland disorders Hepatology Heme metabolism disorders Genetic syndromes Pediatrics. (kuzemkinomo.ru)

Gilbert's syndrome is a condition involving a defect in a phase 2 glucuronidation gene known as UGT1a1. (dcentertainmentng.com)
Gilbert's syndrome (GS) is a mild liver disorder in which the liver does not properly process bilirubin. (dcentertainmentng.com)
He was diagnosed with Gilbert's syndrome 5 years ago on investigation for persistent yellowish discolouration of sclera which got aggravated during periods of stress and illness and resolved subsequently without any medical intervention. (kuzemkinomo.ru)
Gilbert's syndrome can potentially cause such drugs, which utilize these enzymes for its metabolism and ultimate excretion, to accumulate and lead to adverse outcome. (kuzemkinomo.ru)
Although there is no evidence in reported literature about prolongation of other muscle relaxants despite the widespread prevalence of Gilbert's syndrome,[ 2 ] atracurium was preferred due to its Hofmann degradation and ester hydrolysis. (kuzemkinomo.ru)
Heterogeneity of paracetamol metabolism in Gilbert's syndrome. (kuzemkinomo.ru)
Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstreambut normally has seendromu serious consequences. (kuzemkinomo.ru)
Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome. (kuzemkinomo.ru)
Gilbert's syndrome Crigler-Najjar syndrome Lucey-Driscoll syndrome. (kuzemkinomo.ru)
Gilbert's syndrome is due to a mutation in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. (kuzemkinomo.ru)
Despite the significant senddromu, reports on anesthetic management of patients with Gilbert's syndrome are few. (kuzemkinomo.ru)

Definitive diagnosis of Crigler-Najjar syndrome requires high-performance liquid chromatography of bile or a tissue enzyme assay of a liver biopsy sample. (medscape.com)
Because most individuals with Rotor syndrome are born to consanguineous couples, the diagnosis of Rotor syndrome may coincidentally identify such consanguinity . (nih.gov)
Tests for hemolysis and measurement of ALT, AST, ALP, and γ-GT activity are needed to evaluate for hemolytic anemia and hepatobiliary diseases that are considered in the differential diagnosis of Rotor syndrome. (nih.gov)

Although no adverse drug effects have been documented in persons with Rotor syndrome, the absence of the hepatic proteins OATP1B1 and OATP1B3 may have serious consequences for liver uptake - and thus for the toxicity of numerous commonly used drugs and/or their metabolites. (nih.gov)

Rotor syndrome is inherited in an autosomal recessive digenic manner. (nih.gov)
Rotor syndrome should be suspected in individuals with the following clinical and laboratory features. (nih.gov)
Dubin-Johnson sehdromu Rotor syndrome. (kuzemkinomo.ru)

Crigler-Najjar syndrome is a very rare inherited disorder in which bilirubin cannot be broken down. (adam.com)
Gilbert syndrome is generally considered to be an autosomal recessive disorder. (medic8.com)
Crigler-Najjar syndrome is a rare monogenic disorder which is caused by a mutation in the UGT1A1 gene. (definigen.com)

Acute Bilirubin Encephalopathy (ABE) is a clinical syndrome of lethargy, hypotonia and poor suck, which may progress to hypertonia (with opisthotonos/retrocollis), high pitched cry, fever, seizures, and coma. (medscape.com)

Gilbert syndrome occurs worldwide, but some mutations are seen more often in particular populations. (nih.gov)
It is not helpful in low serum albumin is decreased, early nonspecific harbingers of this syndrome is most often occurs in of patients may develop over the nodule. (albionfoundation.org)

Crigler-Najjar syndrome is inherited as an autosomal recessive trait. (dcentertainmentng.com)

2. Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome. (nih.gov)
8. Generation of an induced pluripotent stem cell line (GWCMCi005-A) from a patient with Lennox-Gastaut syndrome carrying TANC2 Gln1441Ter mutation. (nih.gov)

Persons with incompletely developed glucuronide conjugation mechanisms (such as Gilbert syndrome or Crigler-Najjar syndrome) have impaired liver function, as do persons with chronic liver diseases such as cirrhosis or hepatitis B [Calabrese et al. (cdc.gov)

Naldyshka was sent to San Juan where she was diagnosed with Crigler-Najjar syndrome, a rare condition that causes a toxic buildup of bilirubin in the liver. (chp.edu)

While some people with Gilbert syndrome develop yellowing of the skin or eyes, most people have no symptoms at all. (dcentertainmentng.com)

Findings on abdominal imaging studies, such as plain radiography, computed tomography (CT) scanning, and ultrasonography, are normal in Crigler-Najjar syndrome. (medscape.com)

Severe cardiac arrhythmias complicate the lactic acid, followed by autologous or allogeneic hematopoietic cell transplant for x-linked hyper-immunoglobulin m syndrome with onset days after inges-tion, the patient gain from becoming high. (albionfoundation.org)

However, there have been cases of heterozygosity and compound heterozygosity reported in patients with Gilbert syndrome, particularly among the Asian population. (medic8.com)
Almost all patients with non-st-segment-elevation acute coronary syndromes. (aaan.org)

Some of the common problems addressed by gastroenterology specialists in Hingoli that are located in and around are acid refluxes, stomach ulcers, bloated stomach, food poisoning and irritable bowel syndrome. (mfine.co)

Anatomy4

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

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

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

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

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)

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

Gene therapy for inherited hyperbilirubinemias. (7/55)

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

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