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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 |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P20273 | B-cell receptor CD22 | |
| P20815 | Cytochrome P450 3A5 | |
| P22083 | Alpha-(1,3)-fucosyltransferase 4 | |
| P22303 | Acetylcholinesterase | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P27797 | Calreticulin |
- 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 |
