Details of Disease

General Information of Disease (ID: DISZV2E4)

Disease Name Platelet-type bleeding disorder 15
Synonyms
macrothrombocytopenia, autosomal dominant, ACTN1-related; bleeding disorder, platelet-type, 15; ACTN1 inherited bleeding disorder, platelet-type; platelet-type bleeding disorder 15; autosomal dominant macrothrombocytopenia ACTN1-related; BDPLT15; inherited bleeding disorder, platelet-type caused by mutation in ACTN1
Definition Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.
Disease Hierarchy
DISUTMSW: Autosomal dominant macrothrombocytopenia
DISIUNXT: Inherited bleeding disorder, platelet-type
DISZV2E4: Platelet-type bleeding disorder 15
Disease Identifiers
MONDO ID
MONDO_0014078
UMLS CUI
C3554663
OMIM ID
615193
MedGen ID
767577

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
ACTN1 OTUCLNXH 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.