Details of Disease

General Information of Disease (ID: DISNM1LK)

Disease Name Thrombocythemia 3
Synonyms
thrombocytosis 3; THCYT3; thrombocythemia type 3; JAK2 familial thrombocytosis; thrombocythemia 3; thrombocythemia 3, autosomal dominant, somatic mutation; familial thrombocytosis caused by mutation in JAK2
Definition Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.
Disease Hierarchy
DISL38J3: Thrombocythemia
DISNM1LK: Thrombocythemia 3
Disease Identifiers
MONDO ID
MONDO_0013794
UMLS CUI
C3281125
OMIM ID
614521
MedGen ID
482755

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
JAK2 TTRMX3V Strong Autosomal dominant [1]
JAK2 TTRMX3V Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
JAK2 OTBIDOOR Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med. 2012 Mar 8;366(10):967-9. doi: 10.1056/NEJMc1200349.