VENTRICULAR SEPTAL DEFECT 3

General Information (adopted from Orphanet):

Synonyms, Signs: VSD3
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614432
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:0004971) Pulmonary artery hypoplasia 15 / 7739
2
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
3
(HPO:0001629) Ventricular septal defect 316 / 7739
4
(HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
5
(HPO:0004415) Pulmonary artery stenosis rare [HPO:skoehler] 25 / 7739
6
(HPO:0001642) Pulmonic stenosis 89 / 7739
7
(HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
8
(HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Aortic isthmus stenosis (in some patients) 1 / 7739
11
(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 Peng et al. (2010) analyzed the NKX2-5 gene in 135 Chinese pediatric patients with nonfamilial congenital cardiac defects and identified a heterozygous missense mutation (P283Q; 600584.0021) in 1 of 82 patients with ventricular septal defect. In addition to ...