{"orpha":526,"name":"Liddle syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudoaldosteronism"],"definition":"A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-526/","orphanet_url":"https://www.orpha.net/en/disease/detail/526","names":{"fr":{"name":"Syndrome de Liddle","synonyms":["Pseudoaldostéronisme"],"definition":"Forme rare d'hypertension artérielle d'origine génétique caractérisée par une hypertension associée à des faibles taux de potassium dans le plasma et d'aldostérone."},"de":{"name":"Liddle-Syndrom","synonyms":["Pseudoaldosteronismus"],"definition":"Eine seltene vererbte Form von Bluthochdruck, die gekennzeichnet ist durch schweren, früh beginnenden Bluthochdruck mit verminderten Kalium-, Renin- und Aldosteron-Plasmaspiegeln."},"es":{"name":"Síndrome de Liddle","synonyms":["Pseudoaldosteronismo"],"definition":"Es una forma genética y poco frecuente de hipertensión de baja renina caracterizada por hipertensión asociada a una disminución de los niveles plasmáticos de potasio y aldosterona."},"it":{"name":"Sindrome di Liddle","synonyms":["Pseudoaldosteronismo"],"definition":"La sindrome di Liddle è una forma genetica rara di ipertensione, caratterizzata da livelli bassi di renina, potassio e aldosterone nel plasma."},"nl":{"name":"Syndroom van Liddle","synonyms":["Pseudoaldosteronisme"],"definition":"Een zeldzame, genetische vorm van hypertensie bij verlaagde renineconcentratie, gekarakteriseerd door hypertensie geassocieerd met verlaagde gehaltes van kalium en aldosteron in plasma."},"pt":{"name":"Síndrome Liddle","synonyms":["Pseudoaldosteronismo"],"definition":"A síndrome de Liddle é uma forma hereditária rara de hipertensão caracterizada por hipertensão grave de início precoce associada a níveis plasmáticos diminuídos de renina, potássio e aldosterona."},"pl":{"name":"Zespół Liddle'a","synonyms":["Pseudoaldosteronizm","Pseudohiperaldosteronizm typu 1"]},"cs":{"name":"Liddleův syndrom","synonyms":["Pseudoaldosteronismus","Pseudohyperaldosteronismus, typ I"]},"uk":{"name":"Синдром Ліддла","synonyms":["Псевдоальдостеронізм"],"definition":"A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone."},"zh":{"name":"Liddle综合征","synonyms":["假性醛固酮增多症1型"]},"tr":{"name":"Liddle sendromu","synonyms":["Psödoalosteronizm","Psödohiperaldosteronizm tip 1"]}},"xrefs":[{"source":"OMIM","code":"177200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618114","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618126","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":"2066369573"},{"source":"MONDO","code":"0008323","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056929","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221043","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7381","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052313","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":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[],"genes":[{"symbol":"SCNN1A","name":"sodium channel epithelial 1 subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"28710092[PMID]","hgnc":"10599","ensembl":"ENSG00000111319","omim":"600228","loci":["12p13.31"]},{"symbol":"SCNN1B","name":"sodium channel epithelial 1 subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":null,"hgnc":"10600","ensembl":"ENSG00000168447","omim":"600760","loci":["16p12.2"]},{"symbol":"SCNN1G","name":"sodium channel epithelial 1 subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":null,"hgnc":"10602","ensembl":"ENSG00000166828","omim":"600761","loci":["16p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":72.0,"area":"Worldwide","status":"Validated","source":"29534496[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}