Preferred Label : Crigler-najjar syndrome, type II;
CISMeF acronym : HBLRCN2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hyperbilirubinemia, crigler-najjar type II; HBLRCN2;
Description : 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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1, 191740.0005);
Laboratory abnormalities : Hyperbilirubinemia, unconjugated, 20mg/dl; Normal serum liver enzymes; Decreased or absent UDP-glucuronyl-transferase activity;
Prefixed ID : #606785;
Origin ID : 606785;
UMLS CUI : C2931132;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
