{"orpha":88660,"name":"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset hypertension with exacerbation in pregnancy","Pseudohyperaldosteronism type 2"],"definition":"A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88660/","orphanet_url":"https://www.orpha.net/en/disease/detail/88660","names":{"fr":{"name":"Hypertension par mutation gain de fonction du récepteur aux minéralocorticoïdes","synonyms":["Hypertension à début précoce accentuée par la grossesse","Pseudohyperaldostéronisme type 2"],"definition":"Cause génétique rare d'hypertension caractérisée par une hypertension sévère d'apparition précoce et résistante au traitement, due à une mutation de gain de fonction dans le récepteur minéralocorticoïde. Associée à une suppression de l'activité de la rénine plasmatique et à de faibles taux d'aldostérone sérique, la maladie est nettement exacerbée pendant la grossesse."},"de":{"name":"Hypertension durch gain-of-function-Mutationen im Mineralocorticoid-Rezeptor","synonyms":["Hypertension, früh beginnende, mit Exazerbation in der Schwangerschaft","Pseudohyperaldosteronismus Typ 2"],"definition":"Eine seltene genetisch bedingte Form der Hypertonie, die durch eine schwere, früh einsetzende, therapieresistente Hypertonie aufgrund einer Gain-of-Function-Mutation (Funktionsgewinn-Mutation) im Mineralocorticoid-Rezeptor gekennzeichnet ist. Die Erkrankung geht mit einer unterdrückten Plasma-Renin-Aktivität und niedrigen Serum-Aldosteron-Spiegeln einher und wird während der Schwangerschaft deutlich verschlimmert."},"es":{"name":"Hipertension por mutaciones con ganancia de función del receptor mineralocorticoide","synonyms":["Hipertensión de inicio precoz con exacerbación durante el embarazo","Pseudohiperaldosteronismo tipo 2"],"definition":"Es una causa genética poco frecuente de hipertensión caracterizada por hipertensión grave de inicio precoz refractaria al tratamiento debido a una mutación de ganancia de función en el receptor de mineralocorticoides. La afección se asocia con una actividad de renina plasmática suprimida y niveles bajos de aldosterona sérica y se exacerba notablemente durante el embarazo."},"it":{"name":"Ipertensione da mutazione con guadagno di funzione nel recettore dei mineralcorticoidi","synonyms":["Ipertensione a esordio precoce aggravata dalla gravidanza","Ipertensione da mutazioni con guadagno di funzione nel recettore dei mineralcorticoidi"],"definition":"L'ipertensione da mutazioni con guadagno di funzione nel recettore dei mineralcorticoidi è una forma genetica rara di ipertensione, caratterizzata da ipertensione familiare grave che esordisce prima dei vent'anni, associata all'assenza di renina nel plasma e a livelli bassi o normali del mineralcorticoide aldosterone. La malattia è fortemente resistente ai farmaci antiipertensivi. Durante la gravidanza, l'ipertensione peggiora significativamente, in associazione con livelli bassi di potassio e non misurabili di aldosterone nel siero, in assenza di segni di preeclampsia che raccomandino un parto pretermine."},"nl":{"name":"Hypertensie door winstmutaties in mineralocorticoïdreceptor","synonyms":["Pseudohyperaldosteronisme type 2","Vroeg optredende hypertensie met exacerbatie tijdens zwangerschap"],"definition":"Een zeldzame genetische oorzaak van hypertensie, gekenmerkt door ernstige, vroeg optredende, therapieresistente hypertensie door een mutatie met functiewinst in de mineralocorticoïdreceptor. De aandoening is geassocieerd met onderdrukte activiteit van renine in plasma en lage gehaltes van aldosteron in serum, en verergert aanzienlijk bij zwangerschap."},"pt":{"name":"Hipertensão devido a mutações de ganho de função no recetor mineralocorticoide","definition":"Uma causa genética rara de hipertensão caracterizada por hipertensão grave de início precoce resistente à terapia devido a uma mutação de ganho de função no recetor mineralocorticoide. A patologia está associada a supressão da atividade da renina plasmática, baixos níveis séricos de aldosterona e é acentuadamente exacerbada durante a gravidez."},"pl":{"name":"Pseudohiperaldosteronizm typu 2","synonyms":["Nadciśnienie o wczesnym początku z zaostrzeniem w czasie ciąży","Nadciśnienie z powodu mutacji nabycia funkcji w receptorze mineralokortykoidowym"],"definition":"Rzadka, genetycznie uwarunkowana przyczyna nadciśnienia, charakteryzująca się ciężkim, opornym na leczenie nadciśnieniem o wczesnym początku wskutek mutacji o typie gain-of-function w receptorze mineralokortykoidowym. Schorzenie jest związane z zahamowaną aktywnością reninową osocza i niskim poziomem aldosteronu w surowicy, ulega zaostrzeniu w ciąży."},"cs":{"name":"Pseudohyperaldosteronismus, typ 2","synonyms":["Hypertenze s časným nástupem s exacerbací v těhotenství","Hypertenze způsobená aktivačními mutacemi receptoru mineralokortikoidů"]},"uk":{"name":"Гіпертензія внаслідок мутацій посилення функції мінералокортикоїдних рецепторів","synonyms":["Гіпертензія з раннім початком та загостренням під час вагітності","Псевдогіперальдостеронізм типу 2"],"definition":"A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy."},"zh":{"name":"盐皮质激素受体功能性突变所致高血压","synonyms":["早发性高血压伴孕期恶化"]},"tr":{"name":"Mineralokortikoid reseptöründeki işlev kazanım mutasyonlarına bağlı hipertansiyon","synonyms":["Psödohiperaldosteronizm tip 2","Gebelikte alevlenme ile seyreden erken başlangıçlı hipertansiyon"]}},"xrefs":[{"source":"ICD-10","code":"I15.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BA04.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"538048714"},{"source":"MONDO","code":"0011517","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}