Gilbert syndrome

Summary
Synonym
  • Constitutional hyperbilirubinemia
  • Gilbert's disease
  • Gilbert's syndrome
  • Gilbert-Meulengracht syndrome
  • hereditary nonhemolytic jaundice
Definition
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
Super Class
bilirubin metabolic disorder
External Links
Disease Ontology
DOID:2739
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
Displaying 1 entry
Gene ID Gene Symbol Description Source
394436 Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24861 Ugt1a1 UDP glucuronosyltransferase family 1 member A1
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
35105 Ugt301D1 UDP-glycosyltransferase family 301 member D1
35137 Ugt36F1 UDP-glycosyltransferase family 36 member F1
35138 Ugt36D1 UDP-glycosyltransferase family 36 member D1
35139 Ugt36E1 UDP-glycosyltransferase family 36 member E1
40079 Ugt316A1 UDP-glycosyltransferase family 316 member A1
41334 Ugt35A1 UDP-glycosyltransferase family 35 member A1
41574 Ugt37A3 UDP-glycosyltransferase family 37 member A3
42538 Ugt49B2 UDP-glycosyltransferase family 49 member B2
53501 Ugt304A1 UDP-glycosyltransferase family 304 member A1
53502 Ugt302K1 UDP-glycosyltransferase family 302 member K1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
406731 ugt1ab UDP glucuronosyltransferase 1 family a, b
100384891 ugt1a7 UDP glucuronosyltransferase 1 family, polypeptide A7
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100135191 ugt1a6 UDP glucuronosyltransferase 1 family, polypeptide A6 Xenopus tropicalis (tropical clawed frog)
100489505 ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
185500 ugt-61 UDP-glucuronosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
850886 ATG26 sterol 3-beta-glucosyltransferase
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000952 Jaundice
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0000007 Autosomal recessive inheritance
HP:0008282 Unconjugated hyperbilirubinemia
HP:0001399 Hepatic failure
Displaying 1 entry
Gene ID Gene Symbol Description
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024