{"orpha":404,"name":"Familial hyperaldosteronism type II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FH-II","FH2","Familial hyperaldosteronism type 2"],"definition":"A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404/","orphanet_url":"https://www.orpha.net/en/disease/detail/404","names":{"fr":{"name":"Hyperaldostéronisme familial type II","synonyms":["FH-II","FH2","Hyperaldostéronisme familial type 2"],"definition":"Forme héréditaire d'aldostéronisme primitif (AP) caractérisée par une hypertension de sévérité variable, un hyperaldostéronisme non suppressible par glucocorticoïdes, une hypokaliémie de degré variable, une faible activité plasmatique de la rénine (APR) et un ratio aldostérone/rénine élevé."},"de":{"name":"Hyperaldosteronismus, familiärer, Typ II","synonyms":["FH-II","FH2","Familiärer Hyperaldosteronismus, Typ 2"],"definition":"Eine hereditäre Form des primären Aldosteronismus (PA), gekennzeichnet durch Hypertonie unterschiedlichen Schweregrades, durch Glukokortikoide nicht korrigierbaren Hyperaldosteronismus, variable Hypokaliämie, niedrige Plasma-Renin-Aktivität (PRA) und erhöhtes Aldosteron-Renin-Verhältnis."},"es":{"name":"Hiperaldosteronismo familiar tipo II","synonyms":["FH-II","FH2","Hiperaldosteronismo familiar tipo 2"],"definition":"Es una forma hereditaria de aldosteronismo primario (AP) caracterizada por hipertensión de gravedad variable, hiperaldosteronismo sin respuesta al tratamiento con glucocorticoides, hipopotasemia variable, baja actividad de la renina plasmática (ARP) y aumento de la proporción de aldosterona a renina."},"it":{"name":"Iperaldosteronismo familiare, tipo II","synonyms":["FH-II","FH2","Iperaldosteronismo familiare, tipo 2"],"definition":"Si tratta di una forma ereditaria di aldosteronismo primitivo (AP), caratterizzata da ipertensione di gravità variabile, iperaldosteronismo non trattabile con i glucocorticoidi, ipokaliemia variabile, ridotta attività della renina plasmatica (PRA) e aumento del rapporto aldosterone/renina."},"nl":{"name":"Familiaal hyperaldosteronisme type II","synonyms":["FH-II","FH2","Familiaal hyperaldosteronisme type 2"],"definition":"Een hereditaire vorm van primair aldosteronisme (PA), gekenmerkt door hypertensie met variabele gradaties van ernst, hyperaldosteronisme dat niet kan verholpen worden met glucocorticoïden, variabele hypokaliëmie, lage activiteit van renine in plasma (PRA), en verhoogde aldosteron/renine-verhouding."},"pt":{"name":"Hiperaldosteronismo familiar tipo II","synonyms":["FH-II","FH2","Hiperaldosteronismo familiar tipo 2"],"definition":"Uma forma hereditária de aldosteronismo primário (PA) caracterizada por hipertensão de gravidade variável, hiperaldosteronismo não glicocorticóide com tratamento, hipocaliémia variável, baixa atividade da renina plasmática (PRA) e aumento da razão aldosterona/renina."},"pl":{"name":"Rodzinny hiperaldosteronizm typu II","synonyms":["FH2","FH-II","Rodzinny gruczolak nadnerczy","Rodzinny hiperaldosteronizm typu 2"]},"cs":{"name":"Familiární hyperaldosteronismus, typ II","synonyms":["FH-II","FH2","Familiární adrenální adenom","Familiární hyperaldosteronismus, typ 2"]},"uk":{"name":"Сімейний гіперальдостеронізм, тип II","synonyms":["Сімейна аденома надниркових залоз","Сімейний гіперальдостеронізм 2 типу","FH2","FH-II"],"definition":"A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio."},"zh":{"name":"家族性醛固酮增多症II型","synonyms":["家族性醛固酮增多症II型"]},"tr":{"name":"Ailesel hiperaldosteronizm tip II","synonyms":["FH2","FH-II","Ailesel adrenal adenom","Ailesel hiperaldosteronizm tip 2"]}},"xrefs":[{"source":"OMIM","code":"605635","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5A72.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"734646788"},{"source":"MONDO","code":"0011576","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854107","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2789","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":100091,"name":"Adrenal/paraganglial tumor","classifications":[193,202]},{"orpha":235936,"name":"Familial hyperaldosteronism","classifications":[156,188,193,233]},{"orpha":271847,"name":"Genetic neuroendocrine tumor","classifications":[156]}],"children":[],"genes":[{"symbol":"CLCN2","name":"chloride voltage-gated channel 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29403011[PMID]","hgnc":"2020","ensembl":"ENSG00000114859","omim":"600570","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"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":"2016-08-29","source":"20927129[PMID]_26934393[PMID]_27036860[PMID]_25667376[PMID]_20927129[PMID]_1521363[PMID]_9745430[PMID]_11073536[PMID]","terms":[{"hpo":"HP:0000822","label":"Hypertension","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040084","label":"Abnormal circulating renin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011740","label":"Glucocortocoid-insensitive primary hyperaldosteronism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011746","label":"Secretory adrenocortical adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200114","label":"Metabolic alkalosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011739","label":"Dexamethasone-suppresible primary hyperaldosteronism","frequency":"Excluded (0%)","criteria":null}]}}