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atrial septal defect 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 5

MONDO:0013011

Also known as:ACTC1 atrial heart septal defectASD5atrial heart septal defect caused by mutation in ACTC1

Overview

Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.

GeneticsAutosomal dominant · ACTC1 (chr 15)

OnsetCONGENITAL

Clinical Presentation

Features include always present findings: Secundum atrial septal defect.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Secundum atrial septal defect

Age of onset: at birth.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACTC1 encodes actin alpha cardiac muscle 1 (377 aa). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells Highest expression in Heart Atrial Appendage (3,412 TPM) and Heart Left Ventricle (2,298 TPM).

Atrial septal defect 5 is associated with mutations in the ACTC1 gene on chromosome 15.

ACTC1 is classified as a druggable target with score 2.4.

36 pathogenic variants reported in ACTC1 in ClinVar, including hotspot variants 444338 and 315708.

Variant	Significance

Diagnosis

Genetic testing for ACTC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for atrial septal defect 5.

57 publications have been identified in PubMed for atrial septal defect 5. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (17%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	19	40%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612794

Questions for Your Care Team

→Should I pursue genetic testing for ACTC1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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atrial septal defect 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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