Pulmonary atresia - intact ventricular septum

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 1208
OMIM Id: 265150
ICD-10: Q22.6
UMLs: C0344975
MeSH:
MedDRA:
Snomed: 253590009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hypoplastic right heart syndrome
 -Rare developmental defect during embryogenesis
Pulmonary artery or pulmonary branch anomaly
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
2
 (HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
3
 (HPO:0010954) Hypoplastic right heart 2 / 7739
4
 (HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 50 / 7739
5
 (HPO:0004935) Pulmonary artery atresia 12 / 7739
6
 (HPO:0001702) Abnormality of the tricuspid valve Very frequent [Orphanet] 32 / 7739
7
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: