VENTRICULAR SEPTAL DEFECT 1

General Information (adopted from Orphanet):

Synonyms, Signs: VSD1
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614429
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:0001631) Atria septal defect 274 / 7739
2
(HPO:0001629) Ventricular septal defect 316 / 7739
3
(HPO:0001642) Pulmonic stenosis 89 / 7739
4
(HPO:0004415) Pulmonary artery stenosis 25 / 7739
5
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
6
(HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
7
(OMIM) Atrioventricular conduction defect (in some patients) 3 / 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 Zhang et al. (2008) analyzed the GATA4 gene (600576) in 486 Chinese patients with nonsyndromic congenital heart defects and identified 9 heterozygous mutations in 12 patients, including 9 (2.8%) of 319 patients with VSD (see, e.g., 600576.0007 and ...