KEGG   DISEASE: Gilbert syndrome
Entry
H02055                      Disease                                
Name
Gilbert syndrome
  Supergrp
Hyperbilirubinemia [DS:H00208]
Description
Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H02055  Gilbert syndrome
Pathway
hsa00860  Porphyrin metabolism
Gene
UGT1A1 [HSA:54658] [KO:K00699]
Other DBs
ICD-11: 5C58.01
ICD-10: E80.4
MeSH: D005878
OMIM: 143500
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)
DOI:10.1016/j.bcmd.2005.10.006
Reference
PMID:7565971
  Authors
Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al.
  Title
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
  Journal
N Engl J Med 333:1171-5 (1995)
DOI:10.1056/NEJM199511023331802
Reference
  Authors
Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y
  Title
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
  Journal
Clin Genet 64:420-3 (2003)
DOI:10.1034/j.1399-0004.2003.00136.x
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