Absence of the pulmonary artery
Synonyms: Aplasia of pulmonary artery · UAPA · Unilateral Pulmonary Artery Absence · Unilateral pulmonary artery agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absence of the pulmonary artery | Aplasia of pulmonary artery · UAPA · Unilateral Pulmonary Artery Absence · Unilateral pulmonary artery agenesis |
| fr | Absence de l'artère pulmonaire | AUAP · Absence unilatérale de l'artère pulmonaire · Agénésie unilatérale de l'artère pulmonaire · Aplasie de l'artère pulmonaire |
| de | Fehlen der Pulmonalarterie | Einseitiges Fehlen der Pulmonalarterie · Pulmonalarterienagenesie, unilaterale · Pulmonalarterienaplasie · UAPA |
| es | Ausencia de la arteria pulmonar | Agenesia unilateral de la arteria pulmonar · Aplasia de la arteria pulmonar · Ausencia unilateral de la arteria pulmonar · UAPA |
| it | Agenesia dell'arteria polmonare | |
| nl | Afwezigheid van longslagader | Aplasie van arteria pulmonalis · UAPA · Unilaterale afwezigheid van longslagader · Unilaterale agenesie van arteria pulmonalis |
| pt | Ausência da artéria pulmonar | |
| pl | Brak tętnicy płucnej | = en |
| cs | Absence pulmonální arterie | = en |
| uk | Відсутність легеневої артерії | Аплазія легеневої артерії · UAPA · Одностороння відсутність легеневої артерії · Одностороння агенезія легеневої артерії |
| zh | 肺动脉缺如 | 单侧肺动脉缺如 |
| tr | Pulmoner arter yokluğu | UAPA · Pulmoner arter aplazisi · Unilateral Pulmoner Arter Yokluğu · Unilateral pulmoner arter agenezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q25.7 | NTBT | inclusion | validated |
| ICD-11 | LA8B.1 | NTBT | index | validated |
| MONDO | 0020007 | E | validated | |
| UMLS | C0265905 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98719Pulmonary artery or pulmonary branch anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
37 annotations · validated 2021-08-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0031983 | Abnormal pulmonary thoracic imaging finding | |
| HP:0003546 | Exercise intolerance | |
| HP:0012417 | Hypocapnia | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0006704 | Abnormal coronary artery morphology | |
| HP:0040045 | Abnormal hemidiaphragm morphology | |
| HP:0025576 | Abnormal inferior vena cava morphology | |
| HP:0005110 | Atrial fibrillation | |
| HP:0004749 | Atrial flutter | |
| HP:0001631 | Atrial septal defect | |
| HP:0002110 | Bronchiectasis | |
| HP:0001640 | Cardiomegaly | |
| HP:0100749 | Chest pain | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0002094 | Dyspnea | |
| HP:0001510 | Growth delay | |
| HP:0002105 | Hemoptysis | |
| HP:0031246 | Nonproductive cough | |
| HP:0012764 | Orthopnea | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0010741 | Pedal edema | |
| HP:0100598 | Pulmonary edema | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0012020 | Right aortic arch | |
| HP:0031664 | Systolic heart murmur | |
| HP:0001649 | Tachycardia | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001660 | Truncus arteriosus | |
Annotation source: 23938302[PMID]_31228825[PMID]_29463283[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/980
- This record as JSON: /data/d/980.json