Details of Disease | DrugMAP

General Information of Disease (ID: DISLM3IY)

Disease Name	Thrombocytopenia 5
Synonyms	thrombocytopenia 5 with increased susceptibility to malignancy; thrombocytopenia, autosomal dominant, 5; THC5; thrombocytopenia 5; thrombocytopenia caused by mutation in ETV6; ETV6 thrombocytopenia; thrombocytopenia type 5
Definition	Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.
Disease Hierarchy	DIS1HP20: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome DISANU9Q: Inherited thrombocytopenia DISLM3IY: Thrombocytopenia 5
Disease Identifiers	MONDO ID MONDO_0014536 UMLS CUI C4015537 OMIM ID 616216 MedGen ID 863974

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ETV6	OTCZMG61	Definitive	Autosomal dominant	[1]
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References

1	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.