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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000952 | Jaundice |
| HP:0002315 | Headache |
| HP:0004936 | Venous thrombosis |
| HP:0001903 | Anemia |
| HP:0003581 | Adult onset |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0004818 | Paroxysmal nocturnal hemoglobinuria |
| HP:0002014 | Diarrhea |
| HP:0002829 | Arthralgia |
| HP:0000006 | Autosomal dominant inheritance |
