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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 |
|---|---|---|---|
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
| 6401 | SELE | selectin E | |
| 6403 | SELP | selectin P | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 8809 | IL18R1 | interleukin 18 receptor 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:0008320 | Impaired collagen-induced platelet aggregation |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0008148 | Impaired epinephrine-induced platelet aggregation |
