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atrial septal defect 2 (ASD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 2

MONDO:0011938

Also known as:ASD2GATA4 atrial heart septal defectatrial heart septal defect caused by mutation in GATA4

Overview

Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.

GeneticsAutosomal dominant · GATA4 (chr 8)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Atrial septal defect; and sometimes findings: Ventricular septal defect and Pulmonic stenosis. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Ventricular septal defect, Aortic regurgitation, 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.

GATA4 encodes GATA binding protein 4 (442 aa). Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function.

Atrial septal defect 2 is associated with mutations in the GATA4 gene on chromosome 8.

The GATA4 protein participates in Expression of GATA4 in cardiogenesis, Expression of GATA4 in definitive endoderm, and Expression of GATA4 in lateral plate mesoderm pathways.

GATA4 is classified as a druggable target (Clinically Actionable, Enzyme, and Transcription Factor categories) with score 17.4.

Diagnosis

Genetic testing for GATA4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common 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 2.

85 publications have been identified in PubMed for atrial septal defect 2. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (21%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Patient case studies	25	29%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607941

Questions for Your Care Team

→Should I pursue genetic testing for GATA4, 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 2

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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