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atrial septal defect 3 (ASD3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 3

MONDO:0013567

Also known as:ASD3MYH6 atrial heart septal defectatrial heart septal defect caused by mutation in MYH6

Overview

Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.

GeneticsAutosomal dominant · MYH6 (chr 14)

Clinical Presentation

Features include: Secundum atrial septal defect.

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

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.

MYH6 encodes myosin heavy chain 6 (1,939 aa). Muscle contraction Highest expression in Heart Atrial Appendage (4,609 TPM) and Heart Left Ventricle (334.6 TPM).

Atrial septal defect 3 is associated with mutations in the MYH6 gene on chromosome 14.

MYH6 is classified as a druggable target (Druggable Genome category) with score 2.5.

Diagnosis

Genetic testing for MYH6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 3 has been reported in the published literature.

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 3.

69 publications have been identified in PubMed for atrial septal defect 3. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (28%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Disease patterns and progression	20	29%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614089

GARD

Genetic and Rare Diseases Info Center

GARD:15755

Questions for Your Care Team

→Should I pursue genetic testing for MYH6, 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 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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