ventricular septal defect 1
Findings
No curated finding names ventricular septal defect 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0013746), 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.
- Ventricular septal defectHPOHP:0001629
- 9 of 12 reported patients
- Atrioventricular canal defectHPOHP:0006695
- 1 of 12 reported patients
- Tetralogy of FallotHPOHP:0001636
- 1 of 12 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.
- IRX4HGNC:6129
- Limited · Illumina · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: ventricular septal defect 1
- Also called
- GATA4 ventricular septal defect (disease)