Details of Disease

General Information of Disease (ID: DISTRTMY)

Disease Name Thrombocythemia 2
Synonyms THCYT2; thrombocythemia type 2; thrombocythemia 2, autosomal dominant, somatic mutation; familial thrombocytosis caused by mutation in MPL; MPL familial thrombocytosis; thrombocythemia 2
Definition Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.
Disease Hierarchy
DISL38J3: Thrombocythemia
DISTRTMY: Thrombocythemia 2
Disease Identifiers
MONDO ID
MONDO_0011173
UMLS CUI
C3275998
OMIM ID
601977
MedGen ID
477629

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
MPL TTIHYA4 Strong Genetic Variation [1]
MPL TTIHYA4 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MPL OTZEN192 Definitive Autosomal dominant [2]
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References

1 The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.Blood. 2015 Feb 12;125(7):1159-69. doi: 10.1182/blood-2014-07-587170. Epub 2014 Dec 23.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.