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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 |
|---|---|---|---|
| 718 | C3 | complement C3 | |
| 727 | C5 | complement C5 | |
| 3117 | HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | |
| 3119 | HLA-DQB1 | major histocompatibility complex, class II, DQ beta 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 7852 | CXCR4 | C-X-C motif chemokine receptor 4 | |
| 51604 | PIGT | phosphatidylinositol glycan anchor biosynthesis class T |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12266 | C3 | complement component 3 | |
| 12767 | Cxcr4 | C-X-C motif chemokine receptor 4 | |
| 14960 | H2-Aa | histocompatibility 2, class II antigen A, alpha | |
| 14961 | H2-Ab1 | histocompatibility 2, class II antigen A, beta 1 | |
| 15139 | Hc | hemolytic complement | |
| 18700 | Piga | phosphatidylinositol glycan anchor biosynthesis, class A | |
| 78928 | Pigt | phosphatidylinositol glycan anchor biosynthesis, class T |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 380373 | cxcr4.S | C-X-C motif chemokine receptor 4 S homeolog | Xenopus laevis (African clawed frog) | |
| 100038176 | cxcr4 | C-X-C motif chemokine receptor 4 | Xenopus tropicalis (tropical clawed frog) | |
| 100158632 | piga | phosphatidylinositol glycan anchor biosynthesis class A | Xenopus tropicalis (tropical clawed frog) | |
| 100192360 | cxcr4.L | C-X-C motif chemokine receptor 4 L homeolog | Xenopus laevis (African 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 |
|---|---|---|
| P37287 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002315 | Headache |
| HP:0001873 | Thrombocytopenia |
| HP:0000822 | Hypertension |
| HP:0001903 | Anemia |
| HP:0000093 | Proteinuria |
| HP:0001919 | Acute kidney injury |
| HP:0001254 | Lethargy |
| HP:0000083 | Renal insufficiency |
| HP:0001658 | Myocardial infarction |
| HP:0001882 | Leukopenia |
