{"orpha":275766,"name":"Idiopathic pulmonary arterial hypertension","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["IPAH","Primary pulmonary arterial hypertension"],"definition":"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275766/","orphanet_url":"https://www.orpha.net/en/disease/detail/275766","names":{"fr":{"name":"Hypertension artérielle pulmonaire idiopathique","synonyms":["HTAPi","Hypertension artérielle pulmonaire primitive","IPAH"],"definition":"Forme sporadique d'hypertension artérielle pulmonaire (HAP) caractérisée par une résistance artérielle pulmonaire élevée entraînant une insuffisance cardiaque droite. L'hypertension artérielle pulmonaire idiopathique (HAPI) est progressive et potentiellement létale et n'est pas associée à une maladie sous-jacente ou à des antécédents familiaux d'HAP."},"de":{"name":"Pulmonale arterielle Hypertonie, idiopathische","synonyms":["IPAH","Primäre pulmonale arterielle Hypertension","Sporadische pulmonale arterielle Hypertension"],"definition":"Die idiopathische pulmonale arterielle Hypertonie (IPAH) ist eine sporadische Form der pulmonalen arteriellen Hypertonie (PAH, siehe diesen Begriff), die durch einen erhöhten pulmonal-arteriellen Widerstand gekennzeichnet ist, der zu Rechtsherzversagen führt. IPAH ist progressiv und potenziell tödlich und nicht mit einer Grunderkrankung oder einer Familienanamnese von PAH verbunden."},"es":{"name":"Hipertensión arterial pulmonar idiopática","synonyms":["HAPI","Hipertensión arterial pulmonar primaria","IPAH"],"definition":"Es una forma esporádica de hipertensión arterial pulmonar (HAP) caracterizada por una elevada resistencia arterial pulmonar que conduce a insuficiencia cardíaca derecha. La enfermedad es progresiva y potencialmente fatal y no está asociada a ninguna condición subyacente ni a antecedentes familiares de HAP."},"it":{"name":"Ipertensione arteriosa polmonare idiopatica","synonyms":["IPAH","Ipertensione arteriosa polmonare primitiva"],"definition":"L'ipertensione arteriosa polmonare idiopatica (IPAH) è una forma sporadica di ipertensione arteriosa polmonare (PAH; si veda questo termine), caratterizzata da un'elevata resistenza delle arterie polmonari che esita nell'insufficienza della porzione destra del cuore. La IPAH è una malattia progressiva, potenzialmente letale, che non si associa a malattie pregresse o a un'anamnesi familiare positiva per la PAH."},"nl":{"name":"Idiopathische pulmonale arteriële hypertensie","synonyms":["IPAH","Idiopathische hypertensie in longslagader","Primaire pulmonale arteriële hypertensie"],"definition":"Idiopathische pulmonale arteriële hypertensie (IPAH) is een sporadische vorm van pulmonale arteriële hypertensie (PAH; zie deze term) die wordt gekarakteriseerd door een verhoogde weerstand in de longslagaders, wat leidt tot rechtszijdig hartfalen. IPAH is progressief en potentieel fataal, en is niet geassocieerd met een onderliggende aandoening of een familiale voorgeschiedenis van PAH."},"pt":{"name":"Hipertensão arterial pulmonar idiopática"},"pl":{"name":"Idiopatyczne tętnicze nadciśnienie płucne","synonyms":["IPAH","Pierwotne tętnicze nadciśnienie płucne"]},"cs":{"name":"Idiopatická plicní arteriální hypertenze","synonyms":["IPAH","Primární plicní arteriální hypertenze"]},"uk":{"name":"Ідіопатична легенева артеріальна гіпертензія","synonyms":["IPAH","Первинна легенева артеріальна гіпертензія"],"definition":"Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH."},"zh":{"name":"特发性肺动脉高压","synonyms":["原发性肺动脉高压"],"definition":"特发性肺动脉高压(IPAH)是一种散发性肺动脉高压(PAH)，其特征与肺动脉阻力升高导致右心衰竭相关。IPAH是进行性的，具有潜在的致命性，与潜在疾病或PAH家族史无关。"},"tr":{"name":"İdiyopatik pulmoner arteriyel hipertansiyon","synonyms":["IPAH","Primer pulmoner arteriyel hipertansiyon"]}},"xrefs":[{"source":"ICD-10","code":"I27.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BB01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"265520344"},{"source":"MONDO","code":"0017147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"1999","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3203102","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065151","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":422,"name":"Idiopathic/heritable pulmonary arterial hypertension","classifications":[156,184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.59,"area":"France","status":"Validated","source":"16456139[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"France","status":"Validated","source":"16456139[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.56,"area":"Spain","status":"Validated","source":"22362843[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Spain","status":"Validated","source":"22362843[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.86,"area":"Switzerland","status":"Validated","source":"18587690[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Switzerland","status":"Validated","source":"18587690[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"United Kingdom","status":"Validated","source":"21885399[PMID]_17360728[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"United Kingdom","status":"Validated","source":"21885399[PMID]_17360728[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"United States","status":"Validated","source":"20558556[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Belgium","status":"Validated","source":"8692238[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Israel","status":"Validated","source":"11399707[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Israel","status":"Validated","source":"11399707[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Europe","status":"Validated","source":"16456139[PMID]_22362843[PMID]_18587690[PMID]_21885399[PMID]_17360728[PMID]_24629043[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-19","source":"13396080[PMID]_27888398[PMID]_27390285[PMID]_25469067[PMID]","terms":[{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:3000042","label":"Abnormal jugular vein morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005317","label":"Increased pulmonary vascular resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012098","label":"Edema of the dorsum of feet","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003549","label":"Abnormality of connective tissue","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004870","label":"Chronic hemolytic anemia","frequency":"Excluded (0%)","criteria":null}]}}