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GTR Home > Conditions/Phenotypes > Crigler-Najjar syndrome, type II

Crigler-Najjar syndrome, type II

Synonyms
Crigler Najjar syndrome, type 2; HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II; Mutation in the UDP-glucuronosyl-transferase gene
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The hereditary hyperbilirubinemias include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300) (Wolkoff et al., 1983). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994). [from OMIM]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A, UGT1A1
    Summary: UDP glucuronosyltransferase family 1 member A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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