Gilbert syndrome is an elevation of unconjugated bilirubin without clinical significance. Responsible for this disorder are mutations of the UGT1A gene. Inheritance is dominant or recessive.
Phenobarbital may induce the enzyme wich results in lowering the serum bilirubin levels.
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None (1995) Gilbert's syndrome--a legitimate genetic anomaly? |
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Dawson J et al. (1979) Gilbert's syndrome: analytical subcellular fractionation of liver biopsy specimens. Enzyme activities, organelle pathology and evidence for subpopulations of the syndrome. |
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None (1962) Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults. |
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FOULK WT et al. (1959) Constitutional hepatic dysfunction (Gilbert's disease): its natural history and related syndromes. |
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Owens D et al. (1975) Population studies on Gilbert's syndrome. |
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Platzer R et al. (1978) Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome. |
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None (1967) Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations. |
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Powell LW et al. (1967) Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. |
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Labrune P et al. (1989) Crigler-Najjar type II disease inheritance: a family study. |
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BILLING BH et al. (1964) DEFECTS IN HEPATIC TRANSPORT OF BILIRUBIN IN CONGENITAL HYPERBILIRUBINAEMIA: AN ANALYSIS OF PLASMA BILIRUBIN DISAPPEARANCE CURVES. |
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Koiwai O et al. (1995) Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. |
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Bosma PJ et al. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. |
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None (2008) Pharmacogenetics of Gilbert's syndrome. |
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Hsieh TY et al. (2007) Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. |
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Sugatani J et al. (2002) Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. |
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Maruo Y et al. (1999) A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. |
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Orphanet article Orphanet ID 2824 |
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OMIM.ORG article Omim 143500 |
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Wikipedia article Wikipedia EN (Gilbert's_syndrome) |