{"orpha":757,"name":"Pseudohypoaldosteronism type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chloride shunt syndrome","Familial hyperkalemic hypertension","Gordon hyperkalemia-hypertension syndrome","Hyperkalemia-hypertension syndrome, Gordon type","Hypertensive hyperkalemia","Mineralocorticoid resistant hyperkalemia","PHA2","PHAII","Spitzer-Weinstein syndrome"],"definition":"A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-757/","orphanet_url":"https://www.orpha.net/en/disease/detail/757","names":{"fr":{"name":"Pseudohypoaldostéronisme type 2","synonyms":["Hyperkaliémie minéralocorticoïde résistante","Hyperkaliémie-hypertension type Gordon","Hypertension hyperkaliémique","Hypertension hyperkaliémique de Gordon","Hypertension hyperkaliémique familiale","PHA2","PHAII","Syndrome de Spitzer-Weinstein","Syndrome du shunt au chlore"],"definition":"Le pseudohypoaldostéronisme type 2 (PHA2) est une cause rare d'hypertension artérielle caractérisée par une hyperkaliémie, une acidose métabolique hyperchlorémique modérée, un taux normal ou élevé d'aldostérone, un taux bas de rénine et une fonction rénale normale."},"de":{"name":"Pseudohypoaldosteronismus Typ 2","synonyms":["Chlorid-Shunt-Syndrom","Hyperkaliämie - Hypertension, Typ Gordon","Hyperkaliämie, Mineralocorticoid-resistente","Hyperkaliämie, hypertensive","Hypertonie, hyperkaliämische familiäre","PHA2","PHAII","Spitzer-Weinstein-Syndrom"],"definition":"Eine seltene genetische Form der Hypertonie, die durch Hyperkaliämie, milde hyperchlorämische metabolische Azidose, normales oder erhöhtes Aldosteron, niedriges Renin, bei normaler glomerulärer Filtrationsrate (GFR) der Nieren gekennzeichnet ist."},"es":{"name":"Pseudohipoaldosteronismo tipo 2","synonyms":["Síndrome de hiperpotasemia-hipertensión de Gordon","Síndrome del 'shunt' de cloro","Hiperpotasemia hipertensiva","Hiperpotasemia resistente a mineralocorticoides","Hiperpotasemia-hipertensión tipo Gordon","Hipertensión hiperpotasémica familiar","PHA2","PHAII","Síndrome de Spitzer-Weinstein"],"definition":"Es una forma genética y poco frecuente de hipertensión caracterizada por hiperpotasemia, leve acidosis metabólica hiperclorémica, aldosterona normal o elevada y baja renina, con una tasa normal de filtración glomerular renal (TFG)."},"it":{"name":"Pseudoipoaldosteronismo, tipo 2","synonyms":["Iperkaliemia - ipertensione, tipo Gordon","Iperkaliemia ipertensiva","Iperkaliemia resistente ai mineralcorticoidi","Ipertensione iperkaliemica familiare","PHA2","PHAII","Sindrome da shunt dei cloruri","Sindrome di Spitzer-Weinstein","Sindrome iperkaliemia-ipertensione, tipo Gordomn"],"definition":"È una forma genetica rara di ipertensione, caratterizzata da iperkaliemia, lieve acidosi metabolica ipercloremica, livelli elevati o normali di aldosterone, livelli bassi di renina e normale velocità di filtrazione glomerulare (GFR)."},"nl":{"name":"Pseudohypoaldosteronisme type 2","synonyms":["Chlorideshunt-syndroom","Familiale hyperkaliëmische hypertensie","Hyperkaliëmie - hypertensie-syndroom van Gordon","Hyperkaliëmie - hypertensie-syndroom, Gordon-type","Hypertensieve hyperkaliëmie","Mineralocorticoïderesistente hyperkaliëmie","PHA2","PHAII","Syndroom van Spitzer-Weinstein"],"definition":"Een zeldzame, genetische vorm van hypertensie gekarakteriseerd door hyperkaliëmie, milde hyperchloremische metabole acidose, normaal of verhoogd aldosteron, laag renine, met normale renale glomerulaire filtratiesnelheid (GFS)."},"pt":{"name":"Pseudo-hipoaldosteronismo tipo 2","synonyms":["Hipercaliémia hipertensiva","PHA2","PHAII","Síndrome Spitzer-Weinstein","Síndrome de hipercaliémia-hipertensão de Gordon","Síndrome de hipercaliémia-hipertensão, tipo Gordon"],"definition":"O pseudohipoaldosteronismo tipo 2 (PHA2) é uma forma rara, hereditária, de hipertensão caracterizada por hipercalémia, acidose metabólica hiperclorémica, aldosterona normal ou elevada, baixos níveis de renina e função renal normal."},"pl":{"name":"Pseudohipoaldosteronizm typu 2","synonyms":["Chloride shunt syndrome","Hiperkaliemia - nadciśnienie, typu Gordona","Hiperkaliemia hipertensyjna","Hiperkaliemia oporna na mineralokortykoidy","PHA2","PHAII","Rodzinne nadciśnienie hiperkaliemiczne","Zespół Gordona hiperkaliemia-nadciśnienie","Zespół Spitzera i Weinsteina"]},"cs":{"name":"Pseudohypoaldosteronismus, typ 2","synonyms":["Syndrom chloridového shuntu","Familiární hyperkalemická hypertenze","Syndrom zahrnující Gordonovu hyperkalemii a hypertenzi","Hypertenzní hyperkalemie","Mineralokortikoid-rezistentní hyperkalemie","PHA2","PHAII","Syndrom zahrnující hyperkalemii a hypertenzi, Gordonův typ","Spitzerův-Weinsteinův syndrom","Spitzer-Weinsteinův syndrom"]},"uk":{"name":"Псевдогіпоальдостеронізм, тип 2","synonyms":["Синдром хлоридного шунта","Сімейна гіперкаліємічна гіпертензія","Синдром гіперкаліємії-гіпертензії Гордона","Гіперкаліємічно-гіпертензивний синдром, тип Гордона","Гіпертонічна гіперкаліємія","Резистентна до мінералокортикоїдів гіперкаліємія","PHA2","PHAII","Синдром Шпітцера-Вайнштейна"],"definition":"A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR)."},"zh":{"name":"假性醛固酮减少症2型","synonyms":["高钾血症-高血压综合征，Gordon型"]},"tr":{"name":"Psödohipoaldosteronizm tip 2","synonyms":["PHA2","PHAII","Klorür şant sendromu","Hipertansif hiperkalemi","Spitzer-Weinstein sendromu","Ailesel hiperkalemik hipertansiyon","Mineralokortikoid dirençli hiperkalemi","Gordon hiperkalemi-hipertansiyon sendromu","Hiperkalemi-hipertansiyon sendromu, Gordon tipi"]}},"xrefs":[{"source":"OMIM","code":"145260","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614491","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614492","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614495","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614496","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"715347509"},{"source":"MONDO","code":"0019162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1449844","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4553","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":444916,"name":"Pseudohypoaldosteronism","classifications":[188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[{"orpha":88938,"name":"Pseudohypoaldosteronism type 2A","type":"Etiological subtype"},{"orpha":88939,"name":"Pseudohypoaldosteronism type 2B","type":"Etiological subtype"},{"orpha":88940,"name":"Pseudohypoaldosteronism type 2C","type":"Etiological subtype"},{"orpha":300525,"name":"Pseudohypoaldosteronism type 2D","type":"Etiological subtype"},{"orpha":300530,"name":"Pseudohypoaldosteronism type 2E","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CUL3","name":"cullin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22073419[PMID]","hgnc":"2553","ensembl":"ENSG00000036257","omim":"603136","loci":["2q36.2"],"via":{"orpha":300530,"name":"Pseudohypoaldosteronism type 2E"}},{"symbol":"KLHL3","name":"kelch like family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22073419[PMID]","hgnc":"6354","ensembl":"ENSG00000146021","omim":"605775","loci":["5q31.2"],"via":{"orpha":300525,"name":"Pseudohypoaldosteronism type 2D"}},{"symbol":"WNK1","name":"WNK lysine deficient protein kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22073419[PMID]","hgnc":"14540","ensembl":"ENSG00000060237","omim":"605232","loci":["12p13.33"],"via":{"orpha":88940,"name":"Pseudohypoaldosteronism type 2C"}},{"symbol":"WNK4","name":"WNK lysine deficient protein kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22073419[PMID]","hgnc":"14544","ensembl":"ENSG00000126562","omim":"601844","loci":["17q21.2"],"via":{"orpha":88939,"name":"Pseudohypoaldosteronism type 2B"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":180.0,"area":"Worldwide","status":"Validated","source":"22073419[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22073419[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003768","label":"Periodic paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}