ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2

General Information (adopted from Orphanet):

Synonyms, Signs: AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED
Number of Symptoms 9
OrphanetNr:
OMIM Id: 606217
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002627) Right aortic arch with mirror image branching 5 / 7739
2
(HPO:0005298) Atrioventricular canal defect with right ventricle aorta and pulmonary atresia 1 / 7739
3
(HPO:0004935) Pulmonary artery atresia 12 / 7739
4
(HPO:0012020) Right aortic arch 9 / 7739
5
(HPO:0006695) Atrioventricular canal defect 27 / 7739
6
(HPO:0001651) Dextrocardia 38 / 7739
7
(HPO:0003829) Incomplete penetrance 85 / 7739
8
(OMIM) Aorta arises from right ventricle 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Robinson et al. (2003) analyzed a group of subjects with partial AVSD for mutations in the CRELD1 gene, which maps to chromosome 3p25 and is expressed in the developing heart. They identified heterozygous mutations in the CRELD1 gene ...