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GENATLAS PHENOTYPE
last update : 1/09/2006
Symbol CNS1
Location 2q37.1
Name Crigler-Najjar syndrome 1
Corresponding gene UGT1A1
Main clinical features
  • severe chronic non conjugated hyperbilirubinemia with complete absence of bilirubin UDP-glucuronosyltransferase
  • intense jaundice appears in the first days of life and persists thereafterand some affected infants die in the first weeks or months of life with kernicterus
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name UDP glucuronosyltransferase 1, liver, bilirubin (UGT1A1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      uniparental disomy   paternal isodisomy
    Remark(s)