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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GBTS
Location 2q37.1
Name Gilbert syndrome
Other name(s) hyperbilirubinemia Arias type
Corresponding gene UGT1A1
Other symbol(s) GLBS
Main clinical features
  • chronic, hemolytic, unconjugated hyperbilirubinemia with reduced activity of bilirubin glucuronosyltransferase
    • Genetic determination autosomal dominant
    Related entries familial neonatal and breastfeeding jaundice (OMIM 237900)
    Function/system disorder digestive tract/liver and annex
    Type disease
    Gene product
    Name UDP-glucuronosyltransferase 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     missense or promoter mutation,associated with a (TA)7 polymorphism in the promoter region (UGT1A1)
    Remark(s)