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Crigler-Najjar syndrome type 1

Disease definition

A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.


Classification level: Subtype of disorder
  • Synonym(s):
    • Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
    • Bilirubin-UGT deficiency type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E80.5
  • ICD-11: 5C58.00
  • OMIM: 218800
  • UMLS: C0010324
  • MeSH: -
  • GARD: 47
  • MedDRA: 10057034

Detailed information


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