{"orpha":556037,"name":"Late-onset familial hypoaldosteronism","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Late-onset familial hyperreninemic hypoaldosteronism","Mild aldosterone synthase deficiency"],"definition":"A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-556037/","orphanet_url":"https://www.orpha.net/en/disease/detail/556037","names":{"fr":{"name":"Hypoaldostéronisme familial à début tardif","synonyms":["Déficit en aldostérone synthase modéré","Hypoaldostéronisme familial hyperréninémique à début tardif"],"definition":"Forme rare d'hypoaldostéronisme familial caractérisée par l'apparition, à l'âge adulte, de taux plasmatiques d'aldostérone inférieurs à la normale associés à une augmentation de l'activité plasmatique de la rénine, une hyperkaliémie, une acidose métabolique et une hypotension. Les signes et symptômes sont généralement légers. Les patients peuvent aussi être asymptomatiques et le diagnostic n'est alors établi qu'après test de dépistage biochimique."},"de":{"name":"Hypoaldosteronismus, familiärer, spät-einsetzende Form","synonyms":["Aldosteron-Synthase-Mangel, milde Form","Hypoaldosteronismus, familiärer hyperreninämischer, spät beginnend"],"definition":"Eine seltene Form des familiären Hypoaldosteronismus, bei der im Erwachsenenalter ein subnormaler Plasma-Aldosteronspiegel mit erhöhter Plasma-Renin-Aktivität, Hyperkaliämie, metabolischer Azidose und Hypotonie auftritt. Die Anzeichen und Symptome sind in der Regel mild, und die betroffenen Personen können klinisch asymptomatisch sein und erst nach einem biochemischen Screening diagnostiziert werden."},"es":{"name":"Hipoaldosteronismo familiar de inicio tardío","synonyms":["Deficiencia de aldosterona sintasa leve","Hipoaldosteronismo hiperreninémico familiar de inicio tardío"],"definition":"Es una forma poco frecuente de hipoaldosteronismo familiar caracterizado por niveles anormalmente bajos de aldosterona plasmática con una actividad elevada de la renina plasmática, hiperpotasemia, acidosis metabólica e hipotensión de inicio en la edad adulta. Por lo general, los signos y síntomas son leves y los individuos afectos pueden ser clínicamente asintomáticos, siendo diagnosticados únicamente a consecuencia de una prueba bioquímica."},"it":{"name":"Ipoaldesteronismo familiare a esordio tardivo","definition":"Si tratta di una forma rara di ipoaldosteronismo familiare, che esordisce nell'età adulta con livelli subnormali di aldosterone nel plasma, elevata attività della renina plasmatica, iperkaliemia, acidosi metabolica e ipotensione. In genere i sintomi sono lievi, e i pazienti possono essere asintomatici dal punto di vista clinico e ricevere una diagnosi solo dopo lo screening biochimico."},"nl":{"name":"Familiaal hypoaldosteronisme met late aanvang","synonyms":["Familiaal hyperreninemisch hypoaldosteronisme met late aanvang","Milde aldosteronsynthasedeficiëntie"],"definition":"Een zeldzame vorm van familiaal hypoaldosteronisme, gekenmerkt door in de volwassenheid optredende lage gehaltes van aldosteron en verhoogde activiteit van renine in plasma, hyperkaliëmie, metabole acidose, en hypotensie. Verschijnselen en symptomen zijn doorgaans mild, en getroffen individuen kunnen klinisch asymptomatisch zijn en pas na biochemische screening gediagnosticeerd worden."},"pt":{"name":"Hipoaldosteronismo familiar de início tardio"},"pl":{"name":"Hipoaldosteronizm o późnym początku","synonyms":["Łagodny niedobór syntazy aldosteronu"]},"cs":{"name":"Familiární hypoaldosteronismus s pozdním nástupem","synonyms":["Mírný deficit aldosteron syntázy","Familiární hyperreninemický hypoaldosteronismus s pozdním nástupem"]},"uk":{"name":"Пізній сімейний гіпоальдостеронізм","synonyms":["Пізній сімейний гіперренінемічний гіпоальдостеронізм","Легкий дефіцит альдостеронової синтази"],"definition":"A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening."},"zh":{"name":"晚发性家族性醛固酮减少症","synonyms":["晚发性家族性高肾素低醛固酮症"]},"tr":{"name":"Geç başlangıçlı ailesel hipoaldosteronizm","synonyms":["Hafif aldosteron sentaz eksikliği","Geç başlangıçlı ailesel hiperreninemik hipoaldosteronizm"]}},"xrefs":[{"source":"ICD-10","code":"E27.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A73","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680172","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":427,"name":"Familial hypoaldosteronism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"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":"2019-07-08","source":"6991942[PMID]_1594605[PMID]_1601005[PMID]_9360501[PMID]_11701710[PMID]","terms":[{"hpo":"HP:0012112","label":"Abnormality of circulating corticosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025436","label":"Elevated serum 11-deoxycortisol","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012606","label":"Renal sodium wasting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Excluded (0%)","criteria":null}]}}