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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 |
|---|---|---|---|
| 683 | BST1 | bone marrow stromal cell antigen 1 | |
| 912 | CD1D | CD1d molecule | |
| 929 | CD14 | CD14 molecule | |
| 952 | CD38 | CD38 molecule | |
| 962 | CD48 | CD48 molecule | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2526 | FUT4 | fucosyltransferase 4 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase |
| 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 |
