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 81 - 90 of 97 in total
Gene ID Gene Symbol Description Source
27306 HPGDS hematopoietic prostaglandin D synthase
51196 PLCE1 phospholipase C epsilon 1
51703 ACSL5 acyl-CoA synthetase long chain family member 5
54187 NANS N-acetylneuraminate synthase
55512 SMPD3 sphingomyelin phosphodiesterase 3
55997 CFC1 cryptic, EGF-CFC family member 1
56983 POGLUT1 protein O-glucosyltransferase 1
57126 CD177 CD177 molecule
60495 HPSE2 heparanase 2 (inactive)
81890 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
41166 Calr Calreticulin
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
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
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