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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 |
|---|---|---|---|
| 1118 | CHIT1 | chitinase 1 | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 1577 | CYP3A5 | cytochrome P450 family 3 subfamily A member 5 | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2215 | FCGR3B | Fc gamma receptor IIIb |
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 |
