ventricular septal defect 2
Findings
No curated finding names ventricular septal defect 2 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 CITED2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013748), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
1 feature
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.
- Perimembranous ventricular septal defectHPOHP:0011682
- 1 of 1 reported patient
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.
- CITED2HGNC:1987
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: ventricular septal defect 2
- Also called
- CITED2 ventricular septal defect (disease)ventricular septal defect (disease) caused by mutation in CITED2ventricular septal defect type 2