{"orpha":556030,"name":"Early-onset familial hypoaldosteronism","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Early-onset familial hyperreninemic hypoaldosteronism","Severe aldosterone synthase deficiency"],"definition":"A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-556030/","orphanet_url":"https://www.orpha.net/en/disease/detail/556030","names":{"fr":{"name":"Hypoaldostéronisme familial à début précoce","synonyms":["Déficit en aldostérone synthase sévère","Hypoaldostéronisme familial hyperréninémique à début précoce"],"definition":"Forme rare d'hypoaldostéronisme familial caractérisée par l'apparition, pendant la petite enfance, de vomissements, de diarrhées, d'une déshydratation sévère et d'un retard de croissance. L'analyse des électrolytes plasmatiques révèle une hyponatrémie, une hyperkaliémie et une acidose. Une augmentation de l'activité plasmatique de la rénine est observée, ainsi que de faibles taux d'aldostérone."},"de":{"name":"Hypoaldosteronismus, familiärer, früh-einsetzende Form","synonyms":["Aldosteron-Synthase-Mangel, schwere Form","Hypoaldosteronismus, familiärer hyperreninämischer, früh beginnend"],"definition":"Eine seltene Form des familiären Hypoaldosteronismus, die durch frühkindliches Erbrechen, Diarrhoe, schwere Dehydratation und Wachstumsstörungen gekennzeichnet ist. Die Analyse der Plasmaelektrolyte zeigt Hyponatriämie, Hyperkaliämie und Azidose. Die Plasmareninaktivität ist erhöht und die Aldosteronspiegel sind niedrig."},"es":{"name":"Hipoaldosteronismo familiar de inicio precoz","synonyms":["Deficiencia de aldosterona sintasa grave","Hipoaldosteronismo hiperreninémico familiar de inicio precoz"],"definition":"Es un tipo poco frecuente de hipoaldosteronismo familiar caracterizado por vómitos, diarrea, deshidratación grave y fallo de medro de inicio tempranp durante el periodo de lactancia. El análisis de los electrolitos plasmáticos muestra hiponatremia, hiperpotasemia y acidosis. La actividad de la renina plasmática es elevada, mientras que los niveles de aldosterona son bajos."},"it":{"name":"Ipoaldesteronismo familiare a esordio precoce","definition":"Si tratta di una forma rara di ipoaldosteronismo familiare, che esordisce nella prima infanzia con vomito, diarrea, disidratazione grave e ritardo della crescita. L'analisi degli elettroliti nel plasma evidenzia iponatriemia, iperkaliemia e acidosi. L'attività della renina plasmatica è elevata e i livelli di aldosterone sono bassi."},"nl":{"name":"Familiaal hypoaldosteronisme met vroege aanvang","synonyms":["Ernstige aldosteronsynthasedeficiëntie","Familiaal hyperreninemisch hypoaldosteronisme met vroege aanvang"],"definition":"Een zeldzaam type van familiaal hypoaldosteronisme, gekenmerkt door vroeg infantiele aanvang van braken, diarree, ernstige dehydratie, en niet-gedijen. Analyse van elektrolyten in plasma toont hyponatriëmie, hyperkaliëmie, en acidose. De activiteit van renine in plasma is verhoogd, en gehaltes van aldosteron zijn laag."},"pt":{"name":"Hipoaldosteronismo familiar de início precoce"},"pl":{"name":"Hipoaldosteronizm rodzinny o wczesnym początku","synonyms":["Ciężki niedobór syntazy aldosterony"]},"cs":{"name":"Familiární hypoaldosteronismus s časným nástupem","synonyms":["Závažný deficit aldosteron syntázy","Familiární hyperreninemický hypoaldosteronismus s časným nástupem"]},"uk":{"name":"Ранній сімейний гіпоальдостеронізм","synonyms":["Ранній сімейний гіперренінемічний гіпоальдостеронізм","Тяжкий дефіцит альдостеронової синтази"],"definition":"A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low."},"zh":{"name":"早发性家族性醛固酮减少症","synonyms":["早发性家族性高肾素低醛固酮症"]},"tr":{"name":"Erken başlangıçlı ailesel hipoaldosteronizm","synonyms":["Ağır aldosteron sentaz eksikliği","Erken 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":"0035320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680171","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":[{"symbol":"CYP11B2","name":"cytochrome P450 family 11 subfamily B member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22801770[PMID]","hgnc":"2592","ensembl":"ENSG00000179142","omim":"124080","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"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]","terms":[{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012606","label":"Renal sodium wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012112","label":"Abnormality of circulating corticosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025436","label":"Elevated serum 11-deoxycortisol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Excluded (0%)","criteria":null}]}}