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atrial septal defect 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect 7

MONDO:0007173

Also known as:ASD with or without atrioventricular conduction defectsNKX2-5 atrial heart septal defectatrial heart septal defect caused by mutation in NKX2-5

Overview

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.

GeneticsAutosomal dominant · NKX2-5 (chr 5)

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: Abnormal cardiac septum morphology, Arrhythmia, and Bundle branch block; and sometimes findings: Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot, and Thickened left heart wall (left ventricular hypertrophy) and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8	Subvalvular aortic stenosis, Secundum atrial septal defect, 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.

NKX2-5 encodes NK2 homeobox 5 (324 aa). Transcription factor required for the development of the heart and the spleen. During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4. Highest expression in Heart Atrial Appendage (113.7 TPM) and Heart Left Ventricle (108.3 TPM).

Atrial septal defect 7 is associated with mutations in the NKX2-5 gene on chromosome 5.

The NKX2-5 protein participates in Expression of NKX2-5 in cardiogenesis, GATA4, SMAD1:SMAD4, MEF2C, TBX20, and NKX2-5 bind the NKX2-5 gene, and GATA4 and NKX2-5 bind the HAND1 gene pathways.

NKX2-5 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 4.0.

Diagnosis

Genetic testing for NKX2-5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 7.

304 publications have been identified in PubMed for atrial septal defect 7. Kisho has analyzed 134 by research type. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (26%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Disease patterns and progression	38	28%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108900

Orphanet

European rare disease database

Orphanet:1479

GARD

Genetic and Rare Diseases Info Center

GARD:16566

Questions for Your Care Team

→Should I pursue genetic testing for NKX2-5, 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?

← Back to All Diseases

Kisho

atrial septal defect 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Erosion and embolization after transcatheter atrial septal defect closure: Findings from a multicenter international survey.

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.

atrial septal defect 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Erosion and embolization after transcatheter atrial septal defect closure: Findings from a multicenter international survey.

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.