atrial septal defect 9
MONDO:0013770Mondo
Findings
No curated finding names atrial septal defect 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013770), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Secundum atrial septal defectHPOHP:0001684
- 2 of 4 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 4 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GATA6HGNC:4174
- Definitive · G2P · Autosomal dominant · 2015
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: atrial septal defect 9
- Also called
- ASD9atrial heart septal defect caused by mutation in GATA6atrial heart septal defect type 9atrial septal defect type 9GATA6 atrial heart septal defect