ATRIAL SEPTAL DEFECT 3

General Information (adopted from Orphanet):

Synonyms, Signs: ASD3
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614089
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:0001684) Secundum atrial septal defect 15735645 IBIS 14 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ching et al. (2005) described a 4-generation family with ASD and no other cardiac abnormalities, or other malformations of any type. All affected individuals had an ASD of the secundum type, defined as an unrestrictive ASD with increased ...
Molecular genetics OMIM Within the atrial septal defect critical region on chromosome 14q12, Ching et al. (2005) identified MYH6, which is expressed mainly in atrial tissue, as the best candidate gene. They screened the 39 exons of MYH6 in all members ...