Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|
| 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: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 |
