Details of Disease

General Information of Disease (ID: DISAR865)

Disease Name Atrial septal defect 5
Synonyms ACTC1 atrial heart septal defect; atrial heart septal defect type 5; atrial septal defect type 5; atrial heart septal defect caused by mutation in ACTC1; ASD5; atrial septal defect 5
Definition Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.
Disease Hierarchy
DISJT76B: Atrial septal defect
DISAR865: Atrial septal defect 5
Disease Identifiers
MONDO ID
MONDO_0013011
MESH ID
C567561
UMLS CUI
C2748552
OMIM ID
612794
MedGen ID
412580

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
ACTC1 OTJU04B1 Strong Autosomal dominant [1]
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References

1 Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet. 2008 Jan 15;17(2):256-65. doi: 10.1093/hmg/ddm302. Epub 2007 Oct 18.