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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 |
|---|---|---|---|
| 22914 | KLRK1 | killer cell lectin like receptor K1 | |
| 51604 | PIGT | phosphatidylinositol glycan anchor biosynthesis class T | |
| 54675 | CRLS1 | cardiolipin synthase 1 | |
| 80055 | PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | |
| 93183 | PIGM | phosphatidylinositol glycan anchor biosynthesis class M |
| 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:0001254 | Lethargy |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| HP:0001907 | Thromboembolism |
| HP:0100749 | Chest pain |
| HP:0002015 | Dysphagia |
| HP:0001876 | Pancytopenia |
| HP:0003138 | Increased blood urea nitrogen |
| HP:0000083 | Renal insufficiency |
| HP:0002094 | Dyspnea |
| HP:0000802 | Impotence |
