{"orpha":422,"name":"Idiopathic/heritable pulmonary arterial hypertension","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic and/or familial pulmonary arterial hypertension"],"definition":"A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-422/","orphanet_url":"https://www.orpha.net/en/disease/detail/422","names":{"fr":{"name":"Hypertension artérielle pulmonaire idiopathique/familiale","synonyms":["Hypertension artérielle pulmonaire idiopathique et/ou familiale"],"definition":"Forme d'hypertension artérielle pulmonaire (HTAP) caractérisée par une résistance artérielle pulmonaire élevée entraînant une insuffisance cardiaque droite&nbsp;; elle est progressive et potentiellement létale. Dans la plupart des cas, une cause génétique a été identifiée, mais un pourcentage important de cas est idiopathique."},"de":{"name":"Pulmonale arterielle Hypertonie, idiopathische/hereditäre","synonyms":["Pulmonal-arterielle Hypertonie, idiopathische/familiäre"],"definition":"Eine Form der pulmonal-arteriellen Hypertonie (PAH), die durch einen erhöhten pulmonal-arteriellen Widerstand gekennzeichnet ist, der zu Rechtsherzversagen führt; sie ist progredient und potenziell letal. Die meisten Fälle haben eine identifizierbare genetische Ursache, aber ein erheblicher Anteil ist idiopathisch."},"es":{"name":"Hipertensión arterial pulmonar idiopática/hereditaria","synonyms":["Hipertensión arterial pulmonar idiopática y/o familiar"],"definition":"Es una forma de hipertensión arterial pulmonar (HAP) caracterizada una elevada resistencia arterial pulmonar que deriva en insuficiencia cardiaca derecha. Es progresiva y potencialmente mortal. En la mayoría de los casos se ha identificado la causa genética, pero un porcentaje significativo de los mismos es idiopático."},"it":{"name":"Ipertensione arteriosa polmonare familiare e/o idiopatica"},"nl":{"name":"Idiopathische/erfelijke pulmonale arteriële hypertensie","definition":"Een vorm van pulmonale arteriële hypertensie (PAH), gekenmerkt door verhoogde weerstand in longslagaders, wat leidt tot rechterhartfalen; de aandoening is progressief en potentieel fataal. De meerderheid van de gevallen heeft een identificeerbare genetische oorzaak, maar een significant deel is idiopathisch."},"pt":{"name":"Hipertensão arterial pulmonar idiopática/hereditária","synonyms":["Hipertensão arterial pulmonar idiopática e/ou familiar"]},"pl":{"name":"Idiopatyczne lub/i rodzinne tętnicze nadciśnienie płucne","synonyms":["Idiopathic and/or familial pulmonary arterial hypertension"],"definition":"Postać tętniczego nadciśnienia płucnego (TNP) charakteryzująca się podwyższonym oporem w tętnicach płucnych, co prowadzi do prawokomorowej niewydolności serca; ma przebieg postępujący i potencjalnie śmiertelny. W większości przypadków można zidentyfikować podłoże genetyczne, ale w znacznym odsetku jest idiopatyczna."},"cs":{"name":"Idiopatická a/nebo familiární plicní arteriální hypertenze","synonyms":["Idiopathic and/or familial pulmonary arterial hypertension"]},"uk":{"name":"Ідіопатична/спадкова легенева артеріальна гіпертензія","synonyms":["Ідіопатична та/або сімейна легенева артеріальна гіпертензія"],"definition":"A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic."},"zh":{"name":"特发性/遗传性肺动脉高压","synonyms":["特发性和/或家族性肺动脉高压"]},"tr":{"name":"İdiyopatik / kalıtsal pulmoner arteriyel hipertansiyon","synonyms":["İdiyopatik ve/veya ailesel pulmoner arteriyel hipertansiyon"]}},"xrefs":[{"source":"OMIM","code":"178600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"265400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615342","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615343","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615344","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I27.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"BB01.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679820","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":182090,"name":"Pulmonary arterial hypertension","classifications":[184,233]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]}],"children":[{"orpha":275777,"name":"Heritable pulmonary arterial hypertension","type":"Etiological subtype"},{"orpha":275766,"name":"Idiopathic pulmonary arterial hypertension","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ACVRL1","name":"activin A receptor like type 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24951767[PMID]_24956016[PMID]_24936649[PMID]_22632830[PMID]_23298310[PMID]","hgnc":"175","ensembl":"ENSG00000139567","omim":"601284","loci":["12q13.13"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"ENG","name":"endoglin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24951767[PMID]_15687131[PMID]_15115879[PMID]_23298310[PMID]","hgnc":"3349","ensembl":"ENSG00000106991","omim":"131195","loci":["9q34.11"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"BMPR2","name":"bone morphogenetic protein receptor type 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19555857[PMID]_20301658[PMID]_24951767[PMID]","hgnc":"1078","ensembl":"ENSG00000204217","omim":"600799","loci":["2q33.1-q33.2"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"EIF2AK4","name":"eukaryotic translation initiation factor 2 alpha kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25512148[PMID]","hgnc":"19687","ensembl":"ENSG00000128829","omim":"609280","loci":["15q15.1"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"KCNK3","name":"potassium two pore domain channel subfamily K member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23883380[PMID]_24951767[PMID]","hgnc":"6278","ensembl":"ENSG00000171303","omim":"603220","loci":["2p23.3"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"ATP13A3","name":"ATPase 13A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34493544[PMID]","hgnc":"24113","ensembl":"ENSG00000133657","omim":"610232","loci":["3q29"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"CAV1","name":"caveolin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22474227[PMID]","hgnc":"1527","ensembl":"ENSG00000105974","omim":"601047","loci":["7q31.2"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"GDF2","name":"growth differentiation factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37249087[PMID]","hgnc":"4217","ensembl":"ENSG00000263761","omim":"605120","loci":["10q11.22"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"SMAD9","name":"SMAD family member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21920918[PMID]","hgnc":"6774","ensembl":"ENSG00000120693","omim":"603295","loci":["13q13.3"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"TBX4","name":"T-box transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23502781[PMID]_23592887[PMID]","hgnc":"11603","ensembl":"ENSG00000121075","omim":"601719","loci":["17q23.2"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}},{"symbol":"SOX17","name":"SRY-box transcription factor 17","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"30029678[PMID]","hgnc":"18122","ensembl":"ENSG00000164736","omim":"610928","loci":["8q11.23"],"via":{"orpha":275777,"name":"Heritable pulmonary arterial hypertension"}}],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"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":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"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 / 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 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"16456139[PMID]_24629043[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.25,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"20301658[PMID]","terms":[{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030848","label":"Elevated jugular venous pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very rare (<4-1%)","criteria":null}]}}