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atrioventricular septal defect 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrioventricular septal defect 4

MONDO:0013747

Also known as:GATA4 atrioventricular septal defectatrioventricular septal defect caused by mutation in GATA4atrioventricular septal defect type 4

Overview

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

GeneticsAutosomal dominant · GATA4 (chr 8)

Clinical Presentation

Features include: Primum atrial septal defect.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Primum 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.

Atrioventricular septal defect 4 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 atrioventricular 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 atrioventricular septal defect 4.

75 publications have been identified in PubMed for atrioventricular septal defect 4. Research spans Clinical Trial Publication (39%), Epidemiology / Natural History (24%), and Case Report / Case Series (23%).

Research Type	Count	% of Total
Clinical study results	29	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614430

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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atrioventricular septal defect 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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