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GTR Home > Tests > Gilbert syndrome (UGT1A1 gene)

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from OMIM

The hereditary hyperbilirubinemias include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (218800), and Crigler-Najjar syndrome type II (606785); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300) (Wolkoff et al., 1983). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995). Genetic Heterogeneity of Hyperbilirubinemia See also Crigler-Najjar syndrome type I (HBLRCN1; 218800), Crigler-Najjar syndrome type II (HBLRCN2; 606785), and transient familial neonatal hyperbilirubinemia (HBLRTFN; 237900), all caused by mutation in the UGT1A1 gene (191740) on chromosome 2q37; Dubin-Johnson syndrome (DJS, HBLRDJ; 237500), caused by mutation in the ABCC2 gene (601107) on chromosome 10q24; and Rotor syndrome (HBLRR; 237450), caused by digenic mutation in the SLCO1B1 (604843) and SLCOB3 (605495) genes, both on chromosome 12p.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Jaundice
  • Liver failure
  • Unconjugated hyperbilirubinemia
  • Elevated circulating hepatic transaminase concentration

Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Gilbert syndrome is present in ∼5–10% of the population. The prevalence of GS is lower in Chile compared to Europeans (~ 5%), the prevalence of UGT1A1*28 homozygotes is similar (~ 12%). In Chilean Hispanics, the UGT1A1*28 variant explain 75% of GS phenotype.

Citations

Clinical utility

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Establish or confirm diagnosis

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