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Crigler-Najjar syndrome type 2

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0011725:  Crigler-Najjar syndrome type 2
GARD:0008683: 
MESH:C536213: 
Orphanet:79235: 
SCTID:68067009: 
UMLS:C2931132: