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

Summary

The hereditary hyperbilirubinemias (Wolkoff et al., 1983) 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). 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

1 test is in the database for this condition. See lab offering the test.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

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

Clinical features

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  • Jaundice
  • Abnormality of the liver
  • Unconjugated hyperbilirubinemia

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