Details of Disease | DrugMAP

General Information of Disease (ID: DISKSVDR)

Disease Name	ACTB-associated syndromic thrombocytopenia
Synonyms	ACTB-AST; thrombocytopenia 8, with dysmorphic features and developmental delay
Definition	A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
Disease Hierarchy	DISFXMTP: Syndromic constitutional thrombocytopenia DISKSVDR: ACTB-associated syndromic thrombocytopenia

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
ACTB	OT1MCP2F	Moderate	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.