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 41 - 50 of 97 in total
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
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