Crigler-Najjar syndrome type 2
Crigler-Najjar syndrome type 2
Definition
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, bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2, bilirubin-UGT deficiency type 2, hereditary unconjugated hyperbilirubinemia type 2, UGT deficiency type 2 — per MONDO