Pulmonary atresia with ventricular septal defect

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr: 1207
OMIM Id: 178370
ICD-10: Q25.5
UMLs: C0344976
MeSH:
MedDRA:
Snomed: 253591008

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: Conotruncal heart malformations
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001629) Ventricular septal defect 316 / 7739
2
(HPO:0004935) Pulmonary artery atresia 12 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: