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
paroxysmal nocturnal hemoglobinuria
Summary
- Definition
- An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
- Super Class
- hemoglobinuria
External Links
- Disease Ontology
- DOID:0060284
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5281 | PIGF | phosphatidylinositol glycan anchor biosynthesis class F | |
| 5329 | PLAUR | plasminogen activator, urokinase receptor | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 6402 | SELL | selectin L | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 10455 | ECI2 | enoyl-CoA delta isomerase 2 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100158632 | piga | phosphatidylinositol glycan anchor biosynthesis class A | Xenopus tropicalis (tropical clawed frog) | |
| 108707921 | piga.L | phosphatidylinositol glycan anchor biosynthesis class A L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q75T13 | GPI inositol-deacylase | |
| Q969N2 | GPI transamidase component PIG-T |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003641 | Hemoglobinuria |
| HP:0001878 | Hemolytic anemia |
| HP:0012132 | Erythroid hyperplasia |
| HP:0001919 | Acute kidney injury |
| HP:0001297 | Stroke |
| HP:0002625 | Deep venous thrombosis |
| HP:0012622 | Chronic kidney disease |
| HP:0001994 | Renal Fanconi syndrome |
| HP:0001873 | Thrombocytopenia |
| HP:0003076 | Glycosuria |
