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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04275 | von Willebrand factor | |
| P27797 | Calreticulin | |
| P40225 | Thrombopoietin | |
| P40238 | Thrombopoietin receptor |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06876 | Transcriptional activator Myb |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001894 | Thrombocytosis |
| HP:0100576 | Amaurosis fugax |
| HP:0002321 | Vertigo |
| HP:0004936 | Venous thrombosis |
| HP:0000505 | Visual impairment |
| HP:0003401 | Paresthesia |
| HP:0001744 | Splenomegaly |
| HP:0011974 | Myelofibrosis |
| HP:0001974 | Leukocytosis |
| HP:0100659 | Abnormal cerebral vascular morphology |
