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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 |
|---|---|---|---|
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 51703 | ACSL5 | acyl-CoA synthetase long chain family member 5 | |
| 54187 | NANS | N-acetylneuraminate synthase | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 57126 | CD177 | CD177 molecule | |
| 60495 | HPSE2 | heparanase 2 (inactive) | |
| 81890 | QTRT1 | queuine tRNA-ribosyltransferase catalytic subunit 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P13807 | Glycogen [starch] synthase, muscle | |
| P15289 | Arylsulfatase A | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase | |
| P16581 | E-selectin | |
| P17931 | Galectin-3 | |
| P19174 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 |
- 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 |
