{"orpha":980,"name":"Absence of the pulmonary artery","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Aplasia of pulmonary artery","UAPA","Unilateral Pulmonary Artery Absence","Unilateral pulmonary artery agenesis"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-980/","orphanet_url":"https://www.orpha.net/en/disease/detail/980","names":{"fr":{"name":"Absence de l'artère pulmonaire","synonyms":["AUAP","Absence unilatérale de l'artère pulmonaire","Agénésie unilatérale de l'artère pulmonaire","Aplasie de l'artère pulmonaire"],"definition":"Anomalie vasculaire rare caractérisée par l'absence congénitale de l'artère pulmonaire droite ou gauche, se terminant généralement à moins de 2 cm de l'endroit de son implantation dans le tronc pulmonaire. Les patients présentent souvent d'autres anomalies cardiovasculaires et les symptômes correspondants et, pour la plupart, sont alors diagnostiqués dans la petite enfance ou l'enfance. Les cas isolés se caractérisent généralement par une forme légère d'évolution clinique et peuvent ne pas être diagnostiqués jusqu'à l'âge adulte. Les cas isolés se caractérisent par une hémoptysie, une dyspnée d'effort et des infections respiratoires récurrentes. S'accompagnant généralement de lésions marquées du tissu pulmonaire lorsqu'elle n'est pas identifiée, la maladie peut entraîner une hémoptysie massive et une hypertension pulmonaire."},"de":{"name":"Fehlen der Pulmonalarterie","synonyms":["Einseitiges Fehlen der Pulmonalarterie","Pulmonalarterienagenesie, unilaterale","Pulmonalarterienaplasie","UAPA"],"definition":"Eine seltene Gefäßanomalie, die durch das angeborene Fehlen der rechten oder linken Lungenarterie gekennzeichnet ist und in der Regel innerhalb von 2 cm von ihrem erwarteten Ursprung aus dem Lungenstamm endet. Die Patienten weisen häufig auch andere kardiovaskuläre Anomalien und entsprechende Symptome auf und werden dann in der Regel im Säuglings- oder Kindesalter diagnostiziert, während Einzelfälle in der Regel einen milden klinischen Verlauf aufweisen und bis zum Erwachsenenalter möglicherweise nicht diagnostiziert werden. Zu den klinischen Symptomen in Einzelfällen gehören Hämoptyse, Belastungsdyspnoe und wiederkehrende Atemwegsinfektionen. Die Erkrankung geht in der Regel mit deutlichen Veränderungen des Lungengewebes einher und kann, wenn sie nicht erkannt wird, zu massiver Hämoptyse und pulmonaler Hypertonie führen."},"es":{"name":"Ausencia de la arteria pulmonar","synonyms":["Agenesia unilateral de la arteria pulmonar","Aplasia de la arteria pulmonar","Ausencia unilateral de la arteria pulmonar","UAPA"],"definition":"Es una anomalía vascular poco frecuente caracterizada por la ausencia congénita de la arteria pulmonar derecha o izquierda, que generalmente termina dentro de los 2 cm de su origen esperado en el tronco pulmonar. Los pacientes suelen presentar otras anomalías cardiovasculares con sus síntomas respectivos y, por lo general, se les diagnostica en la lactancia o la infancia, mientras que los casos aislados se presentan típicamente con un curso clínico leve y pueden no diagnosticarse hasta la edad adulta. Las características clínicas que se manifiestan en los casos aislados incluyen hemoptisis, disnea de esfuerzo e infecciones respiratorias recurrentes. La afección suele ir acompañada de cambios marcados en el tejido pulmonar y, si no se identifica, puede provocar hemoptisis masiva e hipertensión pulmonar."},"it":{"name":"Agenesia dell'arteria polmonare","definition":"L'agenesia monolaterale dell'arteria polmonare (UAPA) è un'anomalia rara congenita dei grandi vasi. Di solito esordisce con dispnea, infezioni respiratorie frequenti, emottisi ed edema polmonare da alta quota. L'UAPA spesso si associa a cardiopatia congenita (CHM; si veda questo termine). In assenza di cardiopatie associate (UAPA isolata; IUAPA) la malattia può essere asintomatica fino all'età adulta."},"nl":{"name":"Afwezigheid van longslagader","synonyms":["Aplasie van arteria pulmonalis","UAPA","Unilaterale afwezigheid van longslagader","Unilaterale agenesie van arteria pulmonalis"],"definition":"Een zeldzame vasculaire anomalie, gekenmerkt door congenitale afwezigheid van rechter of linker arteria pulmonalis (longslagader), die meestal eindigt binnen de 2 cm van zijn verwachte oorsprong in de pulmonale stam. Patiënten hebben vaak ook andere cardiovasculaire afwijkingen en de respectievelijke symptomen, en worden dan doorgaans gediagnosticeerd in de zuigelingentijd of kindertijd, terwijl geïsoleerde gevallen zich meestal presenteren met een mild klinisch verloop en mogelijk pas gediagnosticeerd worden in de volwassenheid. Presenterende klinische kenmerken in geïsoleerde gevallen zijn onder meer hemoptoë, inspanningsdyspneu, en recidiverende luchtweginfecties. De aandoening gaat meestal gepaard met aanzienlijke veranderingen van longweefsel en kan, indien het niet herkend wordt, resulteren in massale hemoptoë en pulmonale hypertensie."},"pt":{"name":"Ausência da artéria pulmonar","definition":"Anomalia vascular rara caracterizada por ausência congénita da artéria pulmonar direita ou esquerda, geralmente terminando a 2 cm da sua origem esperada a partir do tronco pulmonar. Os doentes geralmente também apresentam outras anomalias cardiovasculares e respetivos sintomas e são então tipicamente diagnosticados na infância, enquanto casos isolados geralmente apresentam um curso clínico leve e podem não ser diagnosticados até à idade adulta. As características clínicas de apresentação nos casos isolados incluem hemoptises, dispneia de esforço e infeções respiratórias recorrentes. A situação é tipicamente acompanhada por alterações marcadas do tecido pulmonar e pode, se não reconhecida, resultar em hemoptise maciça e hipertensão pulmonar."},"pl":{"name":"Brak tętnicy płucnej","synonyms":["Aplasia of pulmonary artery","UAPA","Unilateral Pulmonary Artery Absence","Unilateral pulmonary artery agenesis"],"definition":"Rzadka anomalia naczyniowa charakteryzująca się wrodzonym brakiem prawej lub lewej tętnicy płucnej, zwykle kończącej się w odległości 2 cm od jej spodziewanego odejścia od pnia płucnego. U pacjentów często występują także inne nieprawidłowości sercowo-naczyniowe i związane z nimi objawy, a chorobę diagnozuje się zwykle w niemowlęctwie lub dzieciństwie, natomiast w pojedynczych przypadkach ma ona na ogół łagodny przebieg kliniczny i może pozostać nierozpoznana aż do wieku dorosłego. W pojedynczych przypadkach objawy kliniczne obejmują krwioplucie, duszność wysiłkową i nawracające infekcje dróg oddechowych. Schorzeniu zazwyczaj towarzyszą wyraźne zmiany w tkance płuc co może skutkować masywnym krwiopluciem i nadciśnieniem płucnym, jeśli nie zostanie ono rozpoznane."},"cs":{"name":"Absence pulmonální arterie","synonyms":["Aplasia of pulmonary artery","UAPA","Unilateral Pulmonary Artery Absence","Unilateral pulmonary artery agenesis"]},"uk":{"name":"Відсутність легеневої артерії","synonyms":["Аплазія легеневої артерії","UAPA","Одностороння відсутність легеневої артерії","Одностороння агенезія легеневої артерії"],"definition":"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."},"zh":{"name":"肺动脉缺如","synonyms":["单侧肺动脉缺如"]},"tr":{"name":"Pulmoner arter yokluğu","synonyms":["UAPA","Pulmoner arter aplazisi","Unilateral Pulmoner Arter Yokluğu","Unilateral pulmoner arter agenezisi"]}},"xrefs":[{"source":"ICD-10","code":"Q25.7","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8B.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"542905766"},{"source":"MONDO","code":"0020007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98719,"name":"Pulmonary artery or pulmonary branch anomaly","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-18","source":"23938302[PMID]_31228825[PMID]_29463283[PMID]","terms":[{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031983","label":"Abnormal pulmonary thoracic imaging finding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012417","label":"Hypocapnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006704","label":"Abnormal coronary artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040045","label":"Abnormal hemidiaphragm morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025576","label":"Abnormal inferior vena cava morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012020","label":"Right aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}