{"orpha":427,"name":"Familial hypoaldosteronism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-427/","orphanet_url":"https://www.orpha.net/en/disease/detail/427","names":{"fr":{"name":"Hypoaldostéronisme familial","definition":"Hypoaldostéronisme génétique rare qui se présente généralement dans la petite enfance (présentation précoce de l'hypoaldosténisme familial) comme un déséquilibre électrolytique engageant le pronostic vital (retard de croissance, vomissements récurrents et déshydratation sévère). Des antécédents de fièvre, diarrhée, léthargie, faible prise de poids ainsi que de mauvaise alimentation peuvent également être présents depuis la naissance. Les sujets plus âgés (hypoaldostéronisme familial tardif) sont moins gravement atteints ou asymptomatiques."},"de":{"name":"Hypoaldosteronismus, familiärer","definition":"Ein seltener genetisch bedingter Hypoaldosteronismus, der typischerweise im Säuglingsalter auftritt (früh einsetzender familiärer Hypoaldosternismus) und zu einem lebensbedrohlichen Elektrolyt-Ungleichgewicht führt (Gedeihstörung, wiederkehrendes Erbrechen und schwere Dehydrierung). Fieber, Durchfall, Lethargie, schlechte Gewichtszunahme und schlechte Nahrungsaufnahme seit der Geburt können ebenfalls vorkommen. Ältere Personen (spät auftretender familiärer Hypoaldosteronismus) sind weniger stark betroffen oder zeigen keine Symptome."},"es":{"name":"Hipoaldosteronismo familiar","definition":"Es un hipoaldosteronismo de origen genético poco frecuente que debuta típicamente en la infancia (hipoaldosternismo familiar de inicio temprano) como un desequilibrio electrolítico potencialmente mortal (fallo de medro, vómitos recurrentes y deshidratación grave). También puede haber antecedentes de fiebre, diarrea, letargia, poco aumento de peso, problemas en la alimentación desde el nacimiento. Los pacientes de edades más avanzadas (hipoaldosteronismo familiar de aparición tardía) están afectados con menor gravedad o permanecen asintomáticos"},"it":{"name":"Ipoaldosteronismo familiare","definition":"Si tratta di un ipoaldosteronismo genetico raro, che di solito esordisce nella prima infanzia (ipoaldosteronismo familiare ad esordio precoce) con uno squilibrio elettrolitico potenzialmente letale (ritardo dello sviluppo, vomito ricorrente e grave disidratazione). I pazienti possono presentare un'anamnesi positiva per la febbre, la diarrea, la letargia, lo scarso aumento del peso e le difficoltà di alimentazione fin dalla nascita. I pazienti più grandi (ipoaldosteronismo familiare ad esordio tardivo) presentano una forma più lieve oppure sono asintomatici."},"nl":{"name":"Familiaal hypoaldosteronisme","definition":"Een zeldzaam, genetisch hypoaldosteronisme dat zich doorgaans presenteert in de zuigelingentijd (familiaal hypoaldosteronisme met vroege aanvang) als een levensbedreigende verstoring van het elektrolytenevenwicht (groeifalen, terugkerend braken en ernstige dehydratie). Een voorgeschiedenis met koorts diarree, lethargie, ondermaatse gewichtstoename, en voedingsproblemen vanaf de geboorte kunnen ook aanwezig zijn. Oudere individuen (familiaal hypoaldosteronisme met late aanvang) worden minder ernstig getroffen of zijn asymptomatisch."},"pt":{"name":"Hipoaldosteronismo familiar"},"pl":{"name":"Rodzinny hipoaldosteronizm"},"cs":{"name":"Familiární hypoaldosteronismus"},"uk":{"name":"Сімейний гіпоальдостеронізм","definition":"A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic."},"zh":{"name":"家族性低醛固酮血症"},"tr":{"name":"Ailesel hipoaldosteronizm"}},"xrefs":[{"source":"OMIM","code":"203400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606984","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E27.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A73","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"712299654"},{"source":"MONDO","code":"0018541","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275180","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99763,"name":"OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1","status":"inactive"},{"type":"Referred to","orpha":99764,"name":"OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]},{"orpha":181419,"name":"Rare hypoaldosteronism","classifications":[193]}],"children":[{"orpha":556030,"name":"Early-onset familial hypoaldosteronism","type":"Clinical subtype"},{"orpha":556037,"name":"Late-onset familial hypoaldosteronism","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":556030,"name":"Early-onset familial hypoaldosteronism"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-24","source":"15134805[PMID]_11701710[PMID]_9814506[PMID]_11238478[PMID]_14250395[PMID]_22217826[PMID]","terms":[{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"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:0011106","label":"Hypovolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012364","label":"Decreased urinary potassium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002049","label":"Proximal renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null}]}}