atrial septal defect 5
MONDO:0013011Mondo
Findings
No curated finding names atrial septal defect 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013011), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Secundum atrial septal defectHPOHP:0001684
- 20 of 20 reported patients · Congenital onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACTC1HGNC:143
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: atrial septal defect 5
- Also called
- ACTC1 atrial heart septal defectASD5atrial heart septal defect caused by mutation in ACTC1atrial heart septal defect type 5atrial septal defect type 5