{"orpha":300530,"name":"Pseudohypoaldosteronism type 2E","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PHA2E"],"definition":null,"note":"This disease is described under Pseudohypoaldosteronism type 2","url":"https://raremap.alftech.space/d/ORPHA-300530/","orphanet_url":"https://www.orpha.net/en/disease/detail/300530","names":{"fr":{"name":"Pseudohypoaldostéronisme type 2E","synonyms":["PHA2E"]},"de":{"name":"Pseudohypoaldosteronismus Typ 2E","synonyms":["PHA2E"]},"es":{"name":"Pseudohipoaldosteronismo tipo 2E","synonyms":["PHA2E"]},"it":{"name":"Pseudoipoaldosteronismo, tipo 2E","synonyms":["PHA2E"]},"nl":{"name":"Pseudohypoaldosteronisme type 2E","synonyms":["PHA2E"]},"pt":{"name":"Pseudohipoaldosteronismo, tipo 2E"},"pl":{"name":"Pseudohipoaldosteronizm typu 2E","synonyms":["PHA2E"]},"cs":{"name":"Pseudohypoaldosteronismus, typ 2E","synonyms":["PHA2E"]},"uk":{"name":"Псевдогіпоальдостеронізм, тип 2E","synonyms":["PHA2E"]},"zh":{"name":"假性醛固酮减少症2E型","synonyms":["假性醛固酮减少症2E型"]},"tr":{"name":"Psödohipoaldosteronizm tip 2E","synonyms":["PHA2E"]}},"xrefs":[{"source":"OMIM","code":"614496","qualifier":"E","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":"1263491925"},{"source":"MONDO","code":"0013782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3469606","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":757,"name":"Pseudohypoaldosteronism type 2","classifications":[156,188,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"22266938[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}