Fixed subaortic stenosis
diseaseOn this page
Summary
Fixed subaortic stenosis (MONDO:0017727) 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 (Worldwide)
- Phenotypes (HPO): 28
Clinical features
Signs & symptoms
Clinical features (HPO)
28 HPO clinical features (Orphanet curated; top 28 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001627 | Abnormal heart morphology | Frequent (30-79%) |
| HP:0001629 | Ventricular septal defect | Frequent (30-79%) |
| HP:0001635 | Congestive heart failure | Frequent (30-79%) |
| HP:0001643 | Patent ductus arteriosus | Frequent (30-79%) |
| HP:0001659 | Aortic regurgitation | Frequent (30-79%) |
| HP:0001712 | Left ventricular hypertrophy | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0002875 | Exertional dyspnea | Frequent (30-79%) |
| HP:0031664 | Systolic heart murmur | Frequent (30-79%) |
| HP:0031668 | Diastolic heart murmur | Frequent (30-79%) |
| HP:0032092 | Left ventricular outflow tract obstruction | Frequent (30-79%) |
| HP:0001279 | Syncope | Occasional (5-29%) |
| HP:0001640 | Cardiomegaly | Occasional (5-29%) |
| HP:0001642 | Pulmonic stenosis | Occasional (5-29%) |
| HP:0001647 | Bicuspid aortic valve | Occasional (5-29%) |
| HP:0001653 | Mitral regurgitation | Occasional (5-29%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (5-29%) |
| HP:0001680 | Coarctation of aorta | Occasional (5-29%) |
| HP:0001681 | Angina pectoris | Occasional (5-29%) |
| HP:0001962 | Palpitations | Occasional (5-29%) |
| HP:0004757 | Paroxysmal atrial fibrillation | Occasional (5-29%) |
| HP:0004970 | Ascending tubular aorta aneurysm | Occasional (5-29%) |
| HP:0006689 | Bacterial endocarditis | Occasional (5-29%) |
| HP:0006695 | Atrioventricular canal defect | Occasional (5-29%) |
| HP:0012764 | Orthopnea | Occasional (5-29%) |
| HP:0030950 | Pulmonary venous hypertension | Occasional (5-29%) |
| HP:0030973 | Postexertional malaise | Occasional (5-29%) |
| HP:0100749 | Chest pain | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | fixed subaortic stenosis |
| Mondo ID | MONDO:0017727 |
| Orphanet | 3092 |
| ICD-11 | 1471062257 |
| UMLS | C0265853 |
| MedGen | 539538 |
| GARD | 0016619 |
| Is cancer (heuristic) | no |
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 › fixed subaortic stenosis
Related subtypes (14): aortic arch interruption, aortic arch defects, idiopathic pulmonary artery dilatation, scimitar syndrome, congenital pulmonary veins atresia or stenosis, congenital pulmonary valve 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 (2): discrete fibromuscular subaortic stenosis, tunnel subaortic 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.