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 1 - 10 of 97 in total
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
240 ALOX5 arachidonate 5-lipoxygenase
248 ALPI alkaline phosphatase, intestinal
250 ALPP alkaline phosphatase, placental
308 ANXA5 annexin A5
410 ARSA arylsulfatase A
412 STS steroid sulfatase
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024