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Gilbert syndrome

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.

Management

Phenobarbital may induce the enzyme wich results in lowering the serum bilirubin levels.

Systematic

Genetic hyperbilirubinemia
Crigler-Najjar syndrome 1
Crigler-Najjar syndrome 2
Dubin-Johnson syndrome
Familial transient neonatal hyperbilirubinemia
Gilbert syndrome
UGT1A
Rotor type hyperbilirubinemia

References:

1.

Borlak J et al. (2000) Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects.

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2.

None (1995) Gilbert's syndrome--a legitimate genetic anomaly?

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3.

Portman OW et al. () A nonhuman primate model of Gilbert's syndrome.

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4.

Nixon JC et al. (1967) Gilbert's disease and the bilirubin tolerance test.

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5.

Black M et al. (1969) Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome.

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6.

Berk PD et al. (1970) Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubin.

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7.

Arias IM et al. (1969) Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity.

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8.

Black M et al. (1970) Treatment of Gilbert's syndrome with phenobarbitone.

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9.

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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10.

None (1962) Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults.

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11.

FOULK WT et al. (1959) Constitutional hepatic dysfunction (Gilbert's disease): its natural history and related syndromes.

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12.

Owens D et al. (1975) Population studies on Gilbert's syndrome.

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13.

Hsieh SY et al. (2001) Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome.

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14.

Platzer R et al. (1978) Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome.

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15.

None (1967) Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations.

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16.

Powell LW et al. (1967) Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families.

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17.

Labrune P et al. (1989) Crigler-Najjar type II disease inheritance: a family study.

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18.

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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19.

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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20.

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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21.

None (2008) Pharmacogenetics of Gilbert's syndrome.

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22.

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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23.

Sugatani J et al. (2002) Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.

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24.

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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25.

Orphanet article

Orphanet ID 2824 external link
26.

OMIM.ORG article

Omim 143500 external link
27.

Wikipedia article

Wikipedia EN (Gilbert's_syndrome) external link
Update: Aug. 14, 2020
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