Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Crigler-Najjar syndrome type 1

Disease definition

A hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).


Classification level: Subtype of disorder
  • 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

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.