Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency Hereditary unconjugated hyperbilirubinemia Bilirubin-UGT deficiency UGT deficiency

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Term information

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MeSH:D003414
OMIM:606785
OMIM:218800
ICD-10:E80.5
UMLS:C0010324
MedDRA:10011386

notation

ORPHA:205