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atrial septal defect 4 (ASD4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 4

MONDO:0012654

Also known as:ASD4TBX20 atrial heart septal defectatrial heart septal defect caused by mutation in TBX20

Overview

Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.

GeneticsAutosomal dominant · TBX20 (chr 7)

Clinical Presentation

Features include sometimes findings: Coarctation of aorta and Patent foramen ovale. 3 total HPO annotations.

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

Explore clinical features

Genetic Landscape

TBX20 function has not been fully characterized.

Atrial septal defect 4 is associated with mutations in the TBX20 gene on chromosome 7.

Diagnosis

Genetic testing for TBX20 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 4 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 4.

276 publications have been identified in PubMed for atrial septal defect 4. Research spans Clinical Trial Publication (33%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Clinical study results	90	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611363

GARD

Genetic and Rare Diseases Info Center

GARD:15512

Questions for Your Care Team

→Should I pursue genetic testing for TBX20, 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 4

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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