Absence of the pulmonary artery
diseaseOn this page
Also known as agenesis of pulmonary arteryaplasia of pulmonary arterycongenital absence of pulmonary arterypulmonary artery absentpulmonary artery agenesisUAPAunilateral pulmonary artery absenceunilateral pulmonary artery agenesis
Summary
Absence of the pulmonary artery (MONDO:0020007) is a disease. A subtype of arterial disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 37
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
37 HPO clinical features (Orphanet curated; top 37 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001627 | Abnormal heart morphology | Frequent (30-79%) |
| HP:0002092 | Pulmonary arterial hypertension | Frequent (30-79%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (30-79%) |
| HP:0003115 | Abnormal EKG | Frequent (30-79%) |
| HP:0003546 | Exercise intolerance | Frequent (30-79%) |
| HP:0006532 | Recurrent pneumonia | Frequent (30-79%) |
| HP:0012417 | Hypocapnia | Frequent (30-79%) |
| HP:0031983 | Abnormal pulmonary thoracic imaging finding | Frequent (30-79%) |
| HP:0000961 | Cyanosis | Occasional (5-29%) |
| HP:0001510 | Growth delay | Occasional (5-29%) |
| HP:0001631 | Atrial septal defect | Occasional (5-29%) |
| HP:0001635 | Congestive heart failure | Occasional (5-29%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (5-29%) |
| HP:0001640 | Cardiomegaly | Occasional (5-29%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (5-29%) |
| HP:0001649 | Tachycardia | Occasional (5-29%) |
| HP:0001655 | Patent foramen ovale | Occasional (5-29%) |
| HP:0001660 | Truncus arteriosus | Occasional (5-29%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (5-29%) |
| HP:0001680 | Coarctation of aorta | Occasional (5-29%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002105 | Hemoptysis | Occasional (5-29%) |
| HP:0002110 | Bronchiectasis | Occasional (5-29%) |
| HP:0004749 | Atrial flutter | Occasional (5-29%) |
| HP:0005110 | Atrial fibrillation | Occasional (5-29%) |
| HP:0006704 | Abnormal coronary artery morphology | Occasional (5-29%) |
| HP:0010741 | Pedal edema | Occasional (5-29%) |
| HP:0012020 | Right aortic arch | Occasional (5-29%) |
| HP:0012664 | Reduced left ventricular ejection fraction | Occasional (5-29%) |
| HP:0012764 | Orthopnea | Occasional (5-29%) |
| HP:0025576 | Abnormal inferior vena cava morphology | Occasional (5-29%) |
| HP:0031246 | Nonproductive cough | Occasional (5-29%) |
| HP:0031664 | Systolic heart murmur | Occasional (5-29%) |
| HP:0040045 | Abnormal hemidiaphragm morphology | Occasional (5-29%) |
| HP:0100598 | Pulmonary edema | Occasional (5-29%) |
| HP:0100749 | Chest pain | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | absence of the pulmonary artery |
| Mondo ID | MONDO:0020007 |
| Orphanet | 980 |
| ICD-11 | 542905766 |
| SNOMED CT | 86252004 |
| UMLS | C0265905 |
| MedGen | 120560 |
| GARD | 0018712 |
| Anatomy (UBERON) | UBERON:0002012 |
| Is cancer (heuristic) | no |
Also known as: agenesis of pulmonary artery · aplasia of pulmonary artery · congenital absence of pulmonary artery · pulmonary artery absent · pulmonary artery agenesis · UAPA · unilateral pulmonary artery absence · unilateral pulmonary artery agenesis
Disease family
This is a subtype of arterial disorder. 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 › vascular disorder › arterial disorder › absence of the pulmonary artery
Related subtypes (29): vertebral artery insufficiency, splenic artery aneurysm, basilar artery insufficiency, arteriosclerosis disorder, subclavian artery aneurysm, pulmonary artery choriocarcinoma, pulmonary artery leiomyosarcoma, coronary artery disorder, hypertensive disorder, carotid artery disorder, pulmonary embolism, peripheral arterial disease, hypotensive disorder, large artery stroke, aortic disorder, cervical artery dissection, anterior spinal artery syndrome, fibromuscular dysplasia, retinal arterial tortuosity, Sneddon syndrome, celiac trunk compression syndrome, pediatric arterial ischemic stroke, arterial occlusion, aberrant subclavian artery, anterior spinal artery stroke, arteritis, pulmonary artery disease, fibromuscular dysplasia, multifocal, carotid web
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.