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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 |
|---|---|---|---|
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 3948 | LDHC | lactate dehydrogenase C | |
| 3958 | LGALS3 | galectin 3 | |
| 3965 | LGALS9 | galectin 9 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase |
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 |
