Details of Disease | DrugMAP

General Information of Disease (ID: DISBCBHB)

Disease Name	Thrombocytopenia 6
Synonyms	thrombocytopenia, autosomal dominant, 6; THC6; thrombocytopenia type 6; thrombocytopenia 6; hereditary thrombocytopenia with early-onset myelofibrosis
Disease Hierarchy	DISFXMTP: Syndromic constitutional thrombocytopenia DISANU9Q: Inherited thrombocytopenia DIS8I9FS: Hereditary disorder of connective tissue DIS5KAPA: Myeloproliferative neoplasm DISBCBHB: Thrombocytopenia 6
Disease Identifiers	MONDO ID MONDO_0014837 UMLS CUI C4310789 OMIM ID 616937 MedGen ID 934756 Orphanet ID 480851

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
SRC	TT6PKBN	Moderate	Autosomal dominant	[1]
SRC	TT6PKBN	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SRC	OTETYX40	Moderate	Autosomal dominant	[1]
------------------------------------------------------------------------------------

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.
2	A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.