Congenital pulmonary valve stenosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 3189 |
| OMIM Id: |
265500
|
| ICD-10: |
Q22.1 |
| UMLs: |
C0162164 |
| MeSH: |
D011666 |
| MedDRA: |
10037451 |
| Snomed: |
67278007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 28.4 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Pulmonary artery or pulmonary branch anomaly
-Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
|
|
(HPO:0001631) | Atria septal defect | Frequent [Orphanet] | 274 / 7739 | |||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
|
|
(HPO:0004414) | Abnormality of the pulmonary artery | Very frequent [Orphanet] | 50 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|