Congenital pulmonary valve stenosis
disease diseaseOn this page
Also known as heart valve pulmonary stenosisvalvar pulmonary stenosisvalvate pulmonary stenosisvalvular pulmonary stenosis
Summary
Congenital pulmonary valve stenosis (MONDO:0017865) is a disease. A subtype of congenital anomaly of the great arteries — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Europe) [Orphanet-validated]
- Phenotypes (HPO): 3
Clinical features
Epidemiology
Prevalence records
19 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | Europe | Validated | |
| Prevalence at birth | 1-5 / 10 000 | 27.2 | France | Validated |
| Prevalence at birth | 1-5 / 10 000 | 19.6 | Austria | Validated |
| Prevalence at birth | 1-5 / 10 000 | 29.1 | Belgium | Validated |
| Prevalence at birth | 1-5 / 10 000 | 14.6 | Croatia | Validated |
| Prevalence at birth | 1-5 / 10 000 | 59.5 | Denmark | Validated |
| Prevalence at birth | 6-9 / 10 000 | 63.6 | Germany | Validated |
| Prevalence at birth | 6-9 / 10 000 | 63.1 | Hungary | Validated |
| Prevalence at birth | 1-9 / 100 000 | 3.6 | Ireland | Validated |
| Prevalence at birth | 1-5 / 10 000 | 26.1 | Italy | Validated |
| Prevalence at birth | 1-5 / 10 000 | 48.2 | Malta | Validated |
| Prevalence at birth | 1-9 / 100 000 | 6.3 | Netherlands | Validated |
| Prevalence at birth | 1-5 / 10 000 | 35.3 | Norway | Validated |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Poland | Validated |
| Prevalence at birth | 1-5 / 10 000 | 23.7 | Portugal | Validated |
| Prevalence at birth | 1-5 / 10 000 | 25.7 | Spain | Validated |
| Prevalence at birth | 6-9 / 10 000 | 98.4 | Switzerland | Validated |
| Prevalence at birth | 1-5 / 10 000 | 42.5 | United Kingdom | Validated |
| Prevalence at birth | 1-5 / 10 000 | 19.4 | Ukraine | Validated |
Signs & symptoms
Clinical features (HPO)
3 HPO clinical features (Orphanet curated; top 3 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001602 | Laryngeal stenosis | Very frequent (80-99%) |
| HP:0001631 | Atrial septal defect | Frequent (30-79%) |
| HP:0030680 | Abnormal cardiovascular system morphology | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital pulmonary valve stenosis |
| Mondo ID | MONDO:0017865 |
| Orphanet | 3189 |
| ICD-10-CM | Q22.1 |
| ICD-11 | 353180069 |
| UMLS | C0162164 |
| MedGen | 511533 |
| GARD | 0016623 |
| MedDRA | 10037451 |
| Is cancer (heuristic) | no |
Also known as: heart valve pulmonary stenosis · valvar pulmonary stenosis · valvate pulmonary stenosis · valvular pulmonary stenosis
Data availability: 6 cell lines.
Disease family
This is a subtype of congenital anomaly of the great arteries. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › congenital anomaly of cardiovascular system › congenital heart malformation › congenital anomaly of the great arteries › congenital pulmonary valve stenosis
Related subtypes (14): aortic arch interruption, aortic arch defects, idiopathic pulmonary artery dilatation, scimitar syndrome, fixed subaortic stenosis, congenital pulmonary veins atresia or stenosis, aorto-ventricular tunnel, aneurysm or dilatation of ascending aorta, premature closure of the arterial duct, absence of the pulmonary artery, congenital patent ductus arteriosus aneurysm, pulmonary artery hypoplasia, pulmonary branch stenosis, primary pulmonary vein stenosis
Subtypes (4): pulmonic stenosis, subpulmonary stenosis, supravalvular pulmonary stenosis, valvar pulmonary stenosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.