{"orpha":275777,"name":"Heritable pulmonary arterial hypertension","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FPAH","Familial pulmonary arterial hypertension","HPAH","Hereditary pulmonary arterial hypertension"],"definition":"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275777/","orphanet_url":"https://www.orpha.net/en/disease/detail/275777","names":{"fr":{"name":"Hypertension artérielle pulmonaire héréditaire","synonyms":["FPAH","HPAH","Hypertension artérielle pulmonaire familiale"],"definition":"Forme d'hypertension artérielle pulmonaire (HAP) survenant à la suite de mutations des gènes prédisposant à l'HAP ou dans un contexte d'antécédents familiaux. L'hypertension artérielle pulmonaire héréditaire (HAPH) se caractérise par une résistance artérielle pulmonaire élevée entraînant une insuffisance cardiaque droite. L'HTAP est progressive et potentiellement létale."},"de":{"name":"Pulmonale arterielle Hypertonie, hereditäre","synonyms":["FPAH","Pulmonale arterielle Hypertonie, familiäre"],"definition":"Die heritable pulmonal-arterielle Hypertonie (HPAH) ist eine Form der pulmonal-arteriellen Hypertonie (PAH, siehe diesen Begriff), die aufgrund von Mutationen in PAH-prädisponierenden Genen oder in einem familiären Kontext auftritt. HPAH ist durch einen erhöhten pulmonal-arteriellen Widerstand gekennzeichnet, der zu Rechtsherzversagen führt. HPAH ist progressiv und potenziell tödlich."},"es":{"name":"Hipertensión arterial pulmonar hereditaria","synonyms":["FPAH","HAPH","Hipertensión arterial pulmonar familiar"],"definition":"Es una forma de hipertensión arterial pulmonar (HAP) que se presenta con agregación familiar y/o en relación con mutaciones en ciertos genes de predisposición a HAP. La HAPH se caracteriza por una elevada resistencia arterial pulmonar que causa insuficiencia cardíaca derecha. La HAPH es progresiva y potencialmente fatal."},"it":{"name":"Ipertensione arteriosa polmonare ereditaria","synonyms":["FPAH","Ipertensione arteriosa polmonare ereditaria","Ipertensione arteriosa polmonare familiare"],"definition":"L'ipertensione arteriosa polmonare ereditaria (HPAH) è una forma di ipertensione arteriosa polmonare (PAH; si veda questo termine), che è causata da mutazioni nei geni che predispongono alla PAH oppure insorge nel contesto di una storia familiare positiva. La HPAH è caratterizzata da un'elevata resistenza delle arterie polmonari che esita nell'insufficienza cardiaca. La HPAH è una malattia progressiva e potenzialmente letale."},"nl":{"name":"Hereditaire pulmonale arteriële hypertensie","synonyms":["Erfelijke hypertensie in longslagader","FPAH","Familiale pulmonale arteriële hypertensie","HPAH"],"definition":"Erfelijke pulmonale arteriële hypertensie (HPAH) is een vorm van pulmonale arteriële hypertensie (PAH; zie deze term) die voorkomt als gevolg van mutaties in PAH-predispositiegenen of in een familiale context. HPAH wordt gekarakteriseerd door een verhoogde weerstand in de longslagaders, wat leidt tot een falen van de rechterzijde van het hart. HPAH is progressief en potentieel dodelijk."},"pt":{"name":"Hipertensão arterial pulmonar hereditária"},"pl":{"name":"Dziedziczne tętnicze nadciśnienie płucne","synonyms":["FPAH","Hereditary pulmonary arterial hypertension","Rodzinne tętnicze nadciśnienie płucne"]},"cs":{"name":"Dědičná forma plicní arteriální hypertenze","synonyms":["FPAH","Familiární plicní arteriální hypertenze","HPAH"]},"uk":{"name":"Спадкова легенева артеріальна гіпертензія","synonyms":["Сімейна легенева артеріальна гіпертензія","FPAH","Спадкова легенева артеріальна гіпертензія","HPAH"],"definition":"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal."},"zh":{"name":"遗传性肺动脉高压","synonyms":["遗传性肺动脉高压"],"definition":"遗传性肺动脉高压(HPAH)是肺动脉高压(PAH)的一种形式，由PAH易感基因突变或家族背景所致。HPAH的特点是肺动脉阻力升高导致右心衰竭。HPAH是进行性的，具有潜在的致命性。"},"tr":{"name":"Kalıtsal pulmoner arteriyel hipertansiyon","synonyms":["FPAH","HPAH","Ailesel pulmoner arteriyel hipertansiyon","Kalıtsal pulmoner arteriyel hipertansiyon"]}},"xrefs":[{"source":"OMIM","code":"178600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615342","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"943760810"},{"source":"MONDO","code":"0017148","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340543","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085244","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":[{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Europe","status":"Validated","source":"16456139[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"France","status":"Validated","source":"16456139[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]_ORPHANET"}],"phenotypes":null}