atrial septal defect 8
Findings
No curated finding names atrial septal defect 8 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 CITED2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013750), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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
- 2 of 2 reported patients
- Anomalous pulmonary venous returnHPOHP:0010772
- 1 of 2 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.
- CITED2HGNC:1987
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: atrial septal defect 8
- Also called
- ASD8atrial heart septal defect caused by mutation in CITED2atrial heart septal defect type 8atrial septal defect type 8CITED2 atrial heart septal defect