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

Rare Disease

atrioventricular septal defect 5

MONDO:0013769

Also known as:GATA6 atrioventricular septal defectatrioventricular septal defect caused by mutation in GATA6atrioventricular septal defect type 5

Overview

Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.

GeneticsAutosomal dominant · GATA6 (chr 18)

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 always present findings: Hypoplastic left heart, Atrioventricular canal defect, and Muscular ventricular septal defect.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Hypoplastic left heart, Muscular ventricular septal defect

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.

GATA6 encodes GATA binding protein 6 (595 aa). Transcriptional activator. Regulates SEMA3C and PLXNA2. Involved in gene regulation specifically in the gastric epithelium. May regulate genes that protect epithelial cells from bacterial infection. Highest expression in Ovary (121.3 TPM) and Adrenal Gland (65.6 TPM).

Atrioventricular septal defect 5 is associated with mutations in the GATA6 gene on chromosome 18.

The GATA6 protein participates in GATA6-AS1 lncRNA, Expression of GATA6 in cardiogenesis, and Expression of GATA6 in definitive endoderm pathways.

GATA6 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 13.1.

Diagnosis

Genetic testing for GATA6 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

Phenotype severity distribution: 3 always present features.

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 5.

82 publications have been identified in PubMed for atrioventricular septal defect 5. Research spans Clinical Trial Publication (43%), Case Report / Case Series (22%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Clinical study results	35	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614474

Questions for Your Care Team

→Should I pursue genetic testing for GATA6, 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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

atrioventricular septal defect 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications