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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2526 | FUT4 | fucosyltransferase 4 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 2923 | PDIA3 | protein disulfide isomerase family A member 3 | |
| 2997 | GYS1 | glycogen synthase 1 | |
| 3037 | HAS2 | hyaluronan synthase 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05362 | Intercellular adhesion molecule 1 | |
| P06744 | Glucose-6-phosphate isomerase | |
| P08174 | Complement decay-accelerating factor | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P08758 | Annexin A5 | |
| P08842 | Steryl-sulfatase | |
| P09326 | CD48 antigen | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P09923 | Intestinal-type alkaline phosphatase | |
| P0CG37 | Cryptic protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001892 | Abnormal bleeding |
| HP:0100576 | Amaurosis fugax |
| HP:0002315 | Headache |
| HP:0004936 | Venous thrombosis |
| HP:0000505 | Visual impairment |
| HP:0003010 | Prolonged bleeding time |
| HP:0011974 | Myelofibrosis |
| HP:0001894 | Thrombocytosis |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0002321 | Vertigo |
