Crigler-Najjar syndrome type 2

MONDO:0011725

Type 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.

Also known as: Arias syndrome, UGT deficiency type 2, bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2, bilirubin-UGT deficiency type 2, hereditary unconjugated hyperbilirubinemia type 2, Crigler Najjar syndrome, type 2, Crigler-Najjar syndrome, type 2, Crigler-Najjar syndrome, type II

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Hyperbilirubinemia (26) Syndromic disease (25) Human disease (14) Disease of genetic or genomic mechanism (2) Bilirubin metabolism disease (0) Crigler-Najjar syndrome (0)

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