{"orpha":403,"name":"Familial hyperaldosteronism type I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dexamethasone-sensitive hypertension","FH-I","FH1","Familial hyperaldosteronism type 1","GRA","Glucocorticoid-remediable aldosteronism","Glucocorticoid-sensitive hypertension"],"definition":"A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-403/","orphanet_url":"https://www.orpha.net/en/disease/detail/403","names":{"fr":{"name":"Hyperaldostéronisme familial type I","synonyms":["FH-I","FH1","Hyperaldostéronisme familial type 1","Hypertension sensible aux glucocorticoïdes","Hypertension sensible à la dexaméthasone"],"definition":"Forme héréditaire rare d'hyperaldostéronisme primitif suppressible par les glucocorticoïdes, caractérisée par une hypertension à début précoce, un hyperaldostéronisme, une hypokaliémie de degré variable, une faible activité plasmatique de la rénine (APR) et une production anormale de 18-oxocortisol et de 18-hydroxycortisol."},"de":{"name":"Hyperaldosteronismus, familiärer, Typ I","synonyms":["FH-I","FH1","GRA","Glucocorticoid-behandelbarer Aldosteronismus","Hypertension mit Dexamethason-Sensibilität","Hypertension mit Glukokortikoid-Sensibilität"],"definition":"Eine seltene, hereditäre, mit Glukokortikoiden behandelbare Form des primären Aldosteronismus (PA), die durch früh einsetzenden Bluthochdruck, Hyperaldosteronismus, variable Hypokaliämie, niedrige Plasma-Renin-Aktivität (PRA) und abnorme Produktion von 18-Oxokortisol und 18-Hydroxycortisol gekennzeichnet ist."},"es":{"name":"Hiperaldosteronismo familiar tipo I","synonyms":["Aldosteronismo tratable con glucocorticoides","FH-I","FH1","GRA","Hiperaldosteronismo familiar tipo 1","Hipertensión sensible a glucocorticoides","Hipertensión sensible a la dexametasona"],"definition":"Es una forma hereditaria poco frecuente de aldosteronismo primario (AP) con respuesta al tratamiento con glucocorticoides que se caracteriza por hipertensión de inicio precoz, hiperaldosteronismo, hipopotasemia variable, disminución de la actividad de la renina plasmática (ARP) y producción anómala de 18-oxocortisol y 18-hidroxicortisol."},"it":{"name":"Iperaldosteronismo familiare, tipo I","synonyms":["Aldosteronismo glucocorticoide-rimediabile","FH-I","FH1","GRA","Iperaldosteronismo familiare, tipo 1","Ipertensione sensibile ai glucocorticoidi","Ipertensione sensibile al desametazone"],"definition":"Si tratta di una forma ereditaria rara di aldosteronismo primitivo (AP) sensibile ai glucocorticoidi, caratterizzata dall'ipertensione ad esordio precoce, da iperaldosteronismo, da ipokaliemia variabile, dalla riduzione dell'attività della renina nel plasma (PRA) e dalla produzione anomala di 18-ossocortisolo e 18-idrossicortisolo."},"nl":{"name":"Familiaal hyperaldosteronisme type I","synonyms":["Dexamethasongevoelige hypertensie","FH-I","FH1","Familiaal hyperaldosteronisme type 1","GRA","Glucocorticoïdgevoelige hypertensie","Glucocorticoïdherstelbaar aldosteronisme"],"definition":"Een zeldzame, hereditaire en door glucocorticoïd geneesbare vorm van primair aldosteronisme (PA), gekenmerkt door vroeg optredende hypertensie, hyperaldosteronisme, variabele hypokaliëmie, lage activiteit van renine in plasma (PRA), en abnormale productie van 18-oxocortisol en 18-hydroxycortisol."},"pt":{"name":"Hiperaldosteronismo familiar tipo 1","synonyms":["Hipertensão sensível aos glucocorticóides","Hipertensão sensível à dexametasona"],"definition":"Forma rara, hereditária, de aldosteronismo primário (PA), sensível a terapêutica com glicocorticóides caracterizada por hipertensão de início precoce, hiperaldosteronismo, hipocaliémia de grau variável, baixa atividade de renina plasmática (PRA) e produção anómala de 18-oxocortisol e 18-hidroxicortisol."},"pl":{"name":"Rodzinny hiperaldosteronizm typu 1","synonyms":["FH1","FH-I","GRA","Nadciśnienie wrażliwe na deksametazon","Nadciśnienie wrażliwe na glikokorykosteroidy"]},"cs":{"name":"Familiární hyperaldosteronismus, typu I","synonyms":["Dexametazon-supresibilní hypertenze","FH-I","FH1","Familiární hyperaldosteronismus, typ 1","GRA","Glukokortikoidy supresibilní (hyper)aldosteronizmus","Hypertenze citlivá na glukokortikoidy"]},"uk":{"name":"Сімейний гіперальдостеронізм, тип I","synonyms":["Гіпертензія, чутлива до дексаметазону","Сімейний гіперальдостеронізм типу 1","FH1","FH-I","Глюкокортикоїд-регульований альдостеронізм","Гіпертензія, чутлива до глюкокортикоїдів","GRA"],"definition":"A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol."},"zh":{"name":"家族性醛固酮增多症I型","synonyms":["糖皮质激素可治性高血压"]},"tr":{"name":"Ailesel hiperaldosteronizm tip I","synonyms":["FH1","GRA","FH-I","Ailesel hiperaldosteronizm ipucu 1","Deksametazona duyarlı hipertansiyon","Glukokortikoid duyarlı hipertansiyon","Glukokortikoid ile düzelebilen aldosteronizm"]}},"xrefs":[{"source":"OMIM","code":"103900","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":"1994802431"},{"source":"MONDO","code":"0007080","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563177","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3838731","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2790","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":"CYP11B1","name":"cytochrome P450 family 11 subfamily B member 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24817817[PMID]_20634641[PMID]","hgnc":"2591","ensembl":"ENSG00000160882","omim":"610613","loci":["8q24.3"]},{"symbol":"CYP11B2","name":"cytochrome P450 family 11 subfamily B member 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24817817[PMID]_20634641[PMID]","hgnc":"2592","ensembl":"ENSG00000179142","omim":"124080","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"23610123[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-26","source":"29348113[PMID]_38495792[PMID]_26934393[PMID]_27036860[PMID]_4288576[PMID]_7593610[PMID]_14688810[PMID]_14667264[PMID]_11085685[PMID]_10679515[PMID]_9360508[PMID]","terms":[{"hpo":"HP:0003351","label":"Decreased circulating renin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000318","label":"Elevated aldosterone:renin ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","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:0430034","label":"Hypertension resistant to conventional therapy","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:0001712","label":"Left ventricular hypertrophy","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:0100602","label":"Preeclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011746","label":"Secretory adrenocortical adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null}]}}