atrial septal defect 2
MONDO:0011938Mondo
Findings
No curated finding names atrial septal defect 2 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 GATA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011938), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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.
- Atrial septal defectHPOHP:0001631
- 23 of 24 reported patients
- Pulmonic stenosisHPOHP:0001642
- 6 of 24 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 24 reported patients
- Aortic regurgitationHPOHP:0001659
- 1 of 24 reported patients
- Atrioventricular canal defectHPOHP:0006695
- 1 of 24 reported patients
- DextrocardiaHPOHP:0001651
- 1 of 24 reported patients
- Mitral regurgitationHPO
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.
- GATA4HGNC:4173
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: atrial septal defect 2
- Also called
- ASD2atrial heart septal defect caused by mutation in GATA4GATA4 atrial heart septal defect