atrioventricular septal defect, susceptibility to, 2
Findings
No curated finding names atrioventricular septal defect, susceptibility to, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011650), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- Partial atrioventricular canal defectHPOHP:0011577
- 3 of 3 reported patients
- DextrocardiaHPOHP:0001651
- 1 of 3 reported patients
- Pulmonary artery atresiaHPOHP:0004935
- 1 of 3 reported patients
- Right aortic arch with mirror image branchingHPOHP:0002627
- 1 of 3 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.
- CRELD1HGNC:14630
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: atrioventricular septal defect, susceptibility to, 2
- Also called
- atrioventricular septal defect caused by mutation in CRELD1atrioventricular septal defect, susceptibility to, type 2CRELD1 atrioventricular septal defect