{"orpha":2038,"name":"Pulmonary arteriovenous malformation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PAVM"],"definition":"An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2038/","orphanet_url":"https://www.orpha.net/en/disease/detail/2038","names":{"fr":{"name":"Malformation artérioveineuse pulmonaire","synonyms":["PAVM"],"definition":"Communication anormale entre une ou plusieurs artères pulmonaires et une ou plusieurs veines pulmonaires, à l'origine d'un shunt intrapulmonaire droit-gauche."},"de":{"name":"Fehlbildung, arteriovenöse pulmonale","synonyms":["PAVM","Pulmonale arteriovenöse Malformationen"],"definition":"Eine anomale Verbindung zwischen einer oder mehreren Pulmonalarterien und einer oder mehreren Pulmonalvenen, die zu einem anatomischen intrapulmonalen Rechts-Links-Shunt führt."},"es":{"name":"Malformación arteriovenosa pulmonar","synonyms":["PAVM"],"definition":"Es una comunicación anómala entre una o más arterias o venas pulmonares que conduce a un cortocircuito anatómico intrapulmonar derecha-izquierda."},"it":{"name":"Malformazione arterovenosa polmonare","synonyms":["PAVM"],"definition":"La malformazione arterovenosa polmonare (PAVM) consiste in una comunicazione aberrante tra una o più arterie polmonari e una o più vene polmonari, che esita in uno shunt anatomico intrapolmonare da destra verso sinistra."},"nl":{"name":"Pulmonale arterioveneuze malformatie","synonyms":["PAVM"],"definition":"Een aberrante communicatie tussen één of meerdere longslagaders en één of meerdere longaders met een anatomische intrapulmonale rechts-linksshunt tot gevolg."},"pt":{"name":"Malformação arterio-venosa pulmonar","definition":"Uma comunicação anómala entre uma ou mais artérias pulmonares e uma ou mais veias pulmonares levando a um <i>shunt<i> anatómico intrapulmonar direito-esquerdo."},"pl":{"name":"Płucna przetoka tętniczo-żylna","synonyms":["Płucny tętniak tętniczo-żylny"]},"cs":{"name":"Vrozená pulmonální arteriovenózní píštěl","synonyms":["Plicní arteriovenózní aneuryzma"]},"uk":{"name":"Легенева артеріовенозна мальформація","synonyms":["PAVM"],"definition":"An aberrant communication between one or more pulmonary arteries and one or more pulmonary veins leading to an anatomic intrapulmonary right-to-left shunt."},"zh":{"name":"肺动静脉畸形","synonyms":["PAVM"]},"tr":{"name":"Pulmoner arteriyovenöz malformasyon","synonyms":["PAVM"]}},"xrefs":[{"source":"OMIM","code":"265140","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q25.7","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA90.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"913404991"},{"source":"MONDO","code":"0009930","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0155675","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4584","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037332","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":693855,"name":"Visceral fast-flow vascular malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Not yet validated","source":"24008954[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-30","source":"30386957[PMID]_31241656[PMID]_31326738[PMID]_31523570[PMID]_30386957[PMID]_3189185[PMID]","terms":[{"hpo":"HP:0004952","label":"Pulmonary arteriovenous fistulas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012151","label":"Hemothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030049","label":"Brain abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011919","label":"Pleural empyema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040223","label":"Pulmonary hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002722","label":"Recurrent abscess formation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}