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Crigler-Najjar syndrome type 1
rareCrigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
- Identifiers
- MONDO:0021020 OMIM:218800Orphanet:79234
- Causal genes
- UGT1A1
- Part of
- Crigler-Najjar syndrome
- Also known as
- bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · bilirubin-UGT deficiency type 1 · Crigler Najjar syndrome, type 1 · Crigler-Najjar syndrome, type 1 · Crigler-Najjar syndrome, type I
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