{"orpha":251274,"name":"Familial hyperaldosteronism type III","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FH-III","FH3","Familial hyperaldosteronism type 3"],"definition":"A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251274/","orphanet_url":"https://www.orpha.net/en/disease/detail/251274","names":{"fr":{"name":"Hyperaldostéronisme familial type III","synonyms":["FH-III","FH3","Hyperaldostéronisme familial type 3"],"definition":"Forme héréditaire rare d'aldostéronisme primitif (AP) caractérisée par une hypertension sévère à début précoce, un hyperaldostéronisme non suppressible par glucocorticoïde, une production excessive de 18-oxocortisol et de 18-hydroxycortisol, et une hypokaliémie profonde."},"de":{"name":"Hyperaldosteronismus, familiärer, Typ III","synonyms":["FH-III","FH3","Familiärer Hyperaldosteronismus Typ 3"],"definition":"Eine seltene hereditäre Form des primären Aldosteronismus (PA), die durch einen früh einsetzenden schweren Bluthochdruck, einen nicht mit Glukokortikoiden behandelbaren Hyperaldosteronismus, eine Überproduktion von 18-Oxocortisol und 18-Hydroxycortisol sowie eine ausgeprägte Hypokaliämie gekennzeichnet ist."},"es":{"name":"Hiperaldosteronismo familiar tipo III","synonyms":["FH-III","FH3","Hiperaldosteronismo familiar tipo 3"],"definition":"Es una forma hereditaria y poco frecuente de aldosteronismo primario (AP) caracterizada por hipertensión grave de inicio precoz, hiperaldosteronismo sin respuesta con glucocorticoides, sobreproducción de 18-oxocortisol y 18-hidroxicortisol e hipopotasemia profunda."},"it":{"name":"Iperaldosteronismo familiare, tipo III","synonyms":["FH3","Iperaldosteronismo familiare, tipo 3","FH-III"],"definition":"Si tratta di una forma ereditaria rara di aldosteronismo primitivo (AP), caratterizzata da ipertensione grave ad esordio precoce, iperaldosteronismo non trattabile con i glucocorticoidi, iperproduzione di 18-ossocortisolo e 18-idrossicortisolo e ipokaliemia grave."},"nl":{"name":"Familiaal hyperaldosteronisme type III","synonyms":["FH-III","FH3","Familiaal hyperaldosteronisme type 3"],"definition":"Een zeldzame, hereditaire vorm van primair aldosteronisme (PA), gekenmerkt door vroeg optredende ernstige hypertensie, hyperaldosteronisme dat niet kan verholpen worden door glucocorticoïd, overproductie van 18-oxocortisol en 18-hydroxycortisol, en zeer ernstige hypokaliëmie."},"pt":{"name":"Hiperaldosteronismo familiar, tipo 3","definition":"Forma hereditária rara de aldosteronismo primário (AP) caracterizada por hipertensão grave de início precoce, hiperaldosteronismo não sensível a glicocorticóides, aumento da produção de 18-oxocortisol e 18-hidroxicortisol e hipocaliémia grave."},"pl":{"name":"Rodzinny hiperaldosteronizm typu III","synonyms":["FH3","FH-III","Rodzinny hiperaldosteronizm typu 3"]},"cs":{"name":"Familiární hyperaldosteronismus, typ III","synonyms":["FH-III","FH3","Familiární hyperaldosteronismus, typ 3"]},"uk":{"name":"Сімейний гіперальдостеронізм, тип III","synonyms":["Сімейний гіперальдостеронізм типу 3","FH3","FH-III"],"definition":"A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."},"zh":{"name":"III型家族性醛固酮增多症","synonyms":["3型家族性醛固酮增多症"],"definition":"家族性醛固酮增多症III型(FH-III)是一种罕见的遗传性原发性醛固酮增多症(PA)，其特征是起病早、重度高血压、糖皮质激素治疗无效的高醛固酮血症、18-氧皮质醇和18-羟基皮质醇分泌过多以及严重的低钾血症。"},"tr":{"name":"Ailesel hiperaldosteronizm tip III","synonyms":["FH3","FH-III","Ailesel hiperaldosteronizm tip 3"]}},"xrefs":[{"source":"OMIM","code":"613677","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A72.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1713452924"},{"source":"MONDO","code":"0013359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3838758","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":235936,"name":"Familial hyperaldosteronism","classifications":[156,188,193,233]}],"children":[],"genes":[{"symbol":"KCNJ5","name":"potassium inwardly rectifying channel subfamily J member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24817817[PMID]","hgnc":"6266","ensembl":"ENSG00000120457","omim":"600734","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24037882[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-08-29","source":"18505761[PMID]_23229280[PMID]_21311022[PMID]_26934393[PMID]_27036860[PMID]_27403928[PMID]","terms":[{"hpo":"HP:0040084","label":"Abnormal circulating renin","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011740","label":"Glucocortocoid-insensitive primary hyperaldosteronism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","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:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","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:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","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}]}}