/Crigler-Najjar syndrome type 2

Crigler-Najjar syndrome type 2

Rare Disease

MONDO:0011725

Also Known As

Arias syndromeUGT deficiency type 2bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2bilirubin-UGT deficiency type 2hereditary unconjugated hyperbilirubinemia type 2Crigler Najjar syndrome, type 2Crigler-Najjar syndrome, type 2Crigler-Najjar syndrome, type IIhyperbilirubinemia, Crigler-Najjar 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.

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Associated Genes

UGT1A1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

Crigler-Najjar syndrome type 1

MONDO:0021020

Rare

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