ATRIOVENTRICULAR SEPTAL DEFECT 5

General Information (adopted from Orphanet):

Synonyms, Signs: AVSD5
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614474
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:0011623) Muscular ventricular septal defect 2 / 7739
2
(HPO:0011579) Unbalanced atrioventricular canal defect 1 / 7739
3
(HPO:0006695) Atrioventricular canal defect 27 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Hypoplastic left ventricle 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite ...
Molecular genetics OMIM In a Hispanic patient with atrioventricular septal defect, Maitra et al. (2010) identified heterozygosity for a gain-of-function missense mutation in the GATA6 gene (A178V; 601656.0004). No DNA was available from family members, but the mutation was not found ...