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Crigler-Najjar syndrome type 1

Disease definition

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

ORPHA:79234

  • Synonym(s):
    • Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
    • Bilirubin-UGT deficiency type 1
    • Hereditary unconjugated hyperbilirubinemia type 1
    • UGT deficiency type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E80.5
  • OMIM: 218800
  • UMLS: C0010324  C2931131
  • MeSH: C536212
  • GARD: 47
  • MedDRA: 10057034

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