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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 |
|---|---|---|---|
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 811 | CALR | calreticulin | |
| 929 | CD14 | CD14 molecule | |
| 933 | CD22 | CD22 molecule | |
| 945 | CD33 | CD33 molecule | |
| 952 | CD38 | CD38 molecule | |
| 962 | CD48 | CD48 molecule | |
| 1012 | CDH13 | cadherin 13 | |
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 | |
| 1116 | CHI3L1 | chitinase 3 like 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:0001658 | Myocardial infarction |
| HP:0005506 | Chronic myelogenous leukemia |
| HP:0100785 | Insomnia |
| HP:0004420 | Arterial thrombosis |
| HP:0002076 | Migraine |
| HP:0012378 | Fatigue |
| HP:0001872 | Abnormality of thrombocytes |
| HP:0005561 | Abnormal bone marrow cell morphology |
| HP:0002488 | Acute leukemia |
| HP:0004866 | Impaired ADP-induced platelet aggregation |
