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 71 - 80 of 97 in total
Gene ID Gene Symbol Description Source
10584 COLEC10 collectin subfamily member 10
10682 EBP EBP cholestenol delta-isomerase
10855 HPSE heparanase
22925 PLA2R1 phospholipase A2 receptor 1
23236 PLCB1 phospholipase C beta 1
23305 ACSL6 acyl-CoA synthetase long chain family member 6
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
23600 AMACR alpha-methylacyl-CoA racemase
26503 SLC17A5 solute carrier family 17 member 5
27163 NAAA N-acylethanolamine acid amidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
41166 Calr Calreticulin
The Human Phenotype Ontology
Displaying entries 31 - 33 of 33 in total
HPO ID HPO Term
HP:0008320 Impaired collagen-induced platelet aggregation
HP:0000006 Autosomal dominant inheritance
HP:0008148 Impaired epinephrine-induced platelet aggregation
Displaying 1 entry
Gene ID Gene Symbol Description
811 CALR calreticulin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024