VENTRICULAR SEPTAL DEFECT 2

General Information (adopted from Orphanet):

Synonyms, Signs: VSD2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614431
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:0011682) Perimembranous ventricular septal defect 6 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment ...
Molecular genetics OMIM Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects for mutations in the CITED2 gene (602937) and identified a 27-bp deletion in a patient with a perimembranous ventricular septal defect. The mutation, which ...