KEGG   DISEASE: H00208Help
Entry
H00208                      Disease                                

Name
Hyperbilirubinemia;
Crigler-Najjar syndrome, type I (CN1);
Crigler-Najjar syndrome, type II (CN2);
Gilbert Syndrome;
Dubin-Johnson syndrome (DJS)
Description
Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder characterized by low-grade chronic hyperbilirubinemia, while Crigler-Najjar syndromes are more severe by kernicterus and jaundice.
Category
Inherited metabolic disease; Liver disease
BRITE hierarchy
Pathway
Porphyrin and chlorophyll metabolism
ABC transporters
Bile secretion
Gene
UGT1A1; UDP glucuronosyltransferase [HSA:54658] [KO:K00699]
(DJS) ABCC2 [HSA:1244] [KO:K05666]
Marker
Bilirubin [CPD:C00486]
Drug
(CN2) Phenobarbital [DG:DG00845]
Other DBs
Reference
  Authors
Costa E
  Title
Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
  Journal
Blood Cells Mol Dis 36:77-80 (2006)
Reference
  Authors
Bosma PJ
  Title
Inherited disorders of bilirubin metabolism.
  Journal
J Hepatol 38:107-17 (2003)
Reference
  Authors
Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR
  Title
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
  Journal
Hum Mutat 16:297-306 (2000)
Reference
  Authors
Sampietro M, Iolascon A
  Title
Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
  Journal
Haematologica 84:150-7 (1999)
Reference
  Authors
Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D
  Title
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2).
  Journal
Am J Physiol Gastrointest Liver Physiol 284:G165-74 (2003)

» Japanese version

DBGET integrated database retrieval system