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
Displaying entries 51 - 60 of 97 in total
Gene ID Gene Symbol Description Source
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5230 PGK1 phosphoglycerate kinase 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5305 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
5321 PLA2G4A phospholipase A2 group IVA
5332 PLCB4 phospholipase C beta 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
41166 Calr Calreticulin
The Human Phenotype Ontology
Displaying entries 11 - 20 of 33 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
811 CALR calreticulin

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Last updated: August 19, 2024