{"orpha":275798,"name":"Pulmonary arterial hypertension associated with connective tissue disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PAH associated with connective tissue disease"],"definition":"A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275798/","orphanet_url":"https://www.orpha.net/en/disease/detail/275798","names":{"fr":{"name":"Hypertension artérielle pulmonaire associée à une connectivite","synonyms":["HTAP associée à une connectivite"],"definition":"Forme d'hypertension artérielle pulmonaire (HTAP) caractérisée par une résistance artérielle pulmonaire élevée entraînant une insuffisance cardiaque droite observée comme complication d'une maladie du tissu conjonctif."},"de":{"name":"Pulmonale arterielle Hypertonie mit assoziierter Bindegewebskrankheit","synonyms":["PAH mit assoziierter Bindegewebskrankheit"],"definition":"Eine Form der pulmonal-arteriellen Hypertonie (PAH), die durch einen erhöhten pulmonal-arteriellen Widerstand gekennzeichnet ist, der zu Rechtsherzversagen führt und als Komplikation einer Bindegewebserkrankung beobachtet wird."},"es":{"name":"Hipertensión arterial pulmonar asociada a enfermedad del tejido conectivo","synonyms":["HAP asociada a enfermedad del tejido conectivo"],"definition":"Es una forma de hipertensión arterial pulmonar (HAP) caracterizada por resistencia arterial pulmonar elevada que conduce a insuficiencia cardíaca derecha observada como una complicación de una enfermedad del tejido conectivo."},"it":{"name":"Ipertensione arteriosa polmonare associata a malattia del tessuto connettivo","synonyms":["PAH associata a malattia del tessuto connettivo"]},"nl":{"name":"Pulmonale arteriële hypertensie geassocieerd met bindweefselziekte","synonyms":["PAH geassocieerd met bindweefselziekte"],"definition":"Een vorm van pulmonale arteriële hypertensie (PAH), gekenmerkt door verhoogde weerstand in longslagaders die leidt tot rechterhartfalen, en waargenomen als complicatie van een bindweefselziekte."},"pt":{"name":"Hipertensão arterial pulmonar associada a doença do tecido conjuntivo"},"pl":{"name":"Tętnicze nadciśnienie płucne związane z chorobą tkanki łącznej","synonyms":["PAH związane z chorobą tkanki łącznej"]},"cs":{"name":"Plicní arteriální hypertenze asociovaná s nemocí pojiva","synonyms":["PAH asociovaná s nemocí pojiva"]},"uk":{"name":"Легенева артеріальна гіпертензія, асоційована із захворюванням сполучної тканини","synonyms":["ЛАГ, повязана із захворюваннями сполучної тканини"],"definition":"A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease."},"zh":{"name":"结缔组织病相关肺动脉高压","synonyms":["结缔组织病相关PAH"],"definition":"与结缔组织病相关的肺动脉高压(PAH-CTD)是肺动脉高压(PAH，见本词条)的一种形式，其特征是肺动脉阻力升高导致右心衰竭，被认为是结缔组织疾病的并发症。"},"tr":{"name":"Bağ dokusu hastalığı ilişkili pulmoner arteriyel hipertansiyon","synonyms":["Bağ dokusu hastalığı ile ilişkili PAH"]}},"xrefs":[{"source":"MONDO","code":"17151","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3697982","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":275791,"name":"Pulmonary arterial hypertension associated with another disease","classifications":[184,233]}],"children":[],"genes":[{"symbol":"HLA-B","name":"major histocompatibility complex, class I, B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"4932","ensembl":"ENSG00000234745","omim":"142830","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"France","status":"Validated","source":"16456139[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.036,"area":"France","status":"Validated","source":"16456139[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Spain","status":"Validated","source":"22362843[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"United Kingdom","status":"Validated","source":"21885399[PMID]_17360728[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"United Kingdom","status":"Validated","source":"21885399[PMID]_17360728[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Czech Republic","status":"Validated","source":"24629043[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Europe","status":"Validated","source":"24629043[PMID]_22362843[PMID]_16456139[PMID]_21885399[PMID]_17360728[PMID]"}],"phenotypes":null}