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essential thrombocythemia
Summary
- Synonym
-
- Essential thrombocythaemia
- familial thrombocytosis
- hemorrhagic thrombocythemia
- hereditary thrombocythemia
- primary Thrombocytosis
- Definition
- A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
- Super Class
- myeloproliferative neoplasm
External Links
- Disease Ontology
- DOID:2224
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2526 | FUT4 | fucosyltransferase 4 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 2923 | PDIA3 | protein disulfide isomerase family A member 3 | |
| 2997 | GYS1 | glycogen synthase 1 | |
| 3037 | HAS2 | hyaluronan synthase 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15147 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q5QGZ9 | C-type lectin domain family 12 member A | |
| Q6ZVN8 | Hemojuvelin | |
| Q7L1S5 | Carbohydrate sulfotransferase 9 | |
| Q8IWL2 | Pulmonary surfactant-associated protein A1 | |
| Q8N6Q3 | CD177 antigen | |
| Q8NBL1 | Protein O-glucosyltransferase 1 | |
| Q8WWQ2 | Inactive heparanase-2 | |
| Q92819 | Hyaluronan synthase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003401 | Paresthesia |
| HP:0001974 | Leukocytosis |
| HP:0012143 | Abnormal megakaryocyte morphology |
| HP:0001744 | Splenomegaly |
| HP:0005513 | Increased megakaryocyte count |
| HP:0100749 | Chest pain |
| HP:0002326 | Transient ischemic attack |
| HP:0000978 | Bruising susceptibility |
| HP:0002863 | Myelodysplasia |
| HP:0011875 | Abnormal platelet morphology |
