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Crigler-Najjar syndrome type 2
rareType 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.
- Identifiers
- MONDO:0011725 OMIM:606785Orphanet:79235
- Causal genes
- UGT1A1
- Part of
- Crigler-Najjar syndrome
- Also known as
- Arias syndrome · bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · bilirubin-UGT deficiency type 2 · Crigler Najjar syndrome, type 2 · hereditary unconjugated hyperbilirubinemia type 2
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