Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
| 54579 | UGT1A5 | UDP glucuronosyltransferase family 1 member A5 | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54659 | UGT1A3 | UDP glucuronosyltransferase family 1 member A3 | |
| 56886 | UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 | |
| 57511 | COG6 | component of oligomeric golgi complex 6 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 53503 | Ugt303A1 | UDP-glycosyltransferase family 303 member A1 | |
| 53506 | Ugt35E2 | UDP-glycosyltransferase family 35 member E2 | |
| 53507 | Ugt35C1 | UDP-glycosyltransferase family 35 member C1 | |
| 53511 | Ugt37D1 | UDP-glycosyltransferase family 37 member D1 | |
| 53512 | Ugt37E1 | UDP-glycosyltransferase family 37 member E1 | |
| 53583 | Ugt37C1 | UDP-glycosyltransferase family 37 member C1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60656 | UDP-glucuronosyltransferase 1A9 | |
| P00558 | Phosphoglycerate kinase 1 | |
| P05062 | Fructose-bisphosphate aldolase B | |
| P06858 | Lipoprotein lipase | |
| P07954 | Fumarate hydratase, mitochondrial | |
| P09104 | Gamma-enolase | |
| P11172 | Uridine 5'-monophosphate synthase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase |
- The Human Phenotype Ontology
| 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 |
