{"orpha":756,"name":"Pseudohypoaldosteronism type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PHA type 1","PHA1"],"definition":"A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-756/","orphanet_url":"https://www.orpha.net/en/disease/detail/756","names":{"fr":{"name":"Pseudohypoaldostéronisme type 1","synonyms":["PHA type 1","PHA1"],"definition":"Forme primaire rare de résistance aux minéralocorticoïdes caractérisée par une perte de sodium légère à excessive, limitée aux reins (pseudohypoaldostéronisme type 1 rénal) ou généralisée, affectant de nombreux organes (pseudohypoaldostéronisme type 1 généralisé). Apparaissant en période néonatale, les signes cliniques sont un retard de croissance, des vomissements et une déshydratation. Les résultats de l'analyse biochimique mettent en évidence une hyperkaliémie, une acidose métabolique et des concentrations plasmatiques élevées en aldostérone et rénine."},"de":{"name":"Pseudohypoaldosteronismus Typ 1","synonyms":["PHA Typ 1","PHA1"],"definition":"Eine primäre Form der Mineralokortikoid-Resistenz, die durch einen leichten bis schweren Salzverlust gekennzeichnet ist, der entweder auf die Niere beschränkt ist (renaler Pseudohypoaldosteronismus Typ 1) oder generalisiert ist und viele Organe betrifft (generalisierter Pseudohypoaldosteronismus Typ 1). Die klinische Manifestation erfolgt in der Neugeborenenperiode mit Gedeihstörungen, Erbrechen und Dehydratation. Die biochemischen Befunde umfassen Hyperkaliämie, metabolische Azidose und erhöhte Plasmawerte von Aldosteron und Renin."},"es":{"name":"Pseudohipoaldosteronismo tipo 1","synonyms":["PHA tipo 1","PHA1"],"definition":"Es una forma primaria poco frecuente de resistencia a los mineralocorticoides caracterizada por una pérdida de sal de leve a profunda, ya sea restringida al riñón (pseudohipoaldosteronismo renal tipo 1) o generalizada con afectación de varios órganos (pseudohipoaldosteronismo generalizado tipo 1). La presentación clínica es en el período neonatal con fallo de medro, vómitos y deshidratación con hallazgos bioquímicos de hiperpotasemia, acidosis metabólica y concentración plasmática elevada de aldosterona y renina."},"it":{"name":"Pseudoipoaldosteronismo tipo 1","synonyms":["PHA tipo 1","PHA1"],"definition":"Si tratta di una forma primitiva rara di resistenza ai mineralcorticoidi, caratterizzata dalla perdita di sali lieve-grave, limitata ai reni (pseudoipoaldosteronismo renale tipo 1) oppure generalizzata con interessamento di molti organi (pseudoipoaldosteronismo generalizzato tipo 1). La malattia esordisce nel periodo neonatale con ritardo della crescita, vomito e disidratazione; gli esami biochimici evidenziano iperkaliemia, acidosi metabolica e concentrazioni elevate di aldosterone e renina nel plasma."},"nl":{"name":"Pseudohypoaldosteronisme type 1","synonyms":["PHA type 1","PHA1"],"definition":"Een zeldzame primaire vorm van resistentie tegen mineralocorticoïd, gekenmerkt door mild tot zeer ernstig zoutverlies, ofwel beperkt tot nier (renaal pseudohypoaldosteronisme type 1), ofwel gegeneraliseerd met betrokkenheid van meerdere organen (gegeneraliseerd pseudohypoaldosteronisme type 1). De aandoening presenteert zich klinisch in de neonatale periode met niet-gedijen, braken en dehydratie, en met biochemische bevindingen van hyperkaliëmie, metabole acidose, en verhoogde concentraties van aldosteron en renine in plasma."},"pt":{"name":"Pseudo-hipoaldosteronismo tipo 1","synonyms":["Adicionar PHA tipo 1"],"definition":"Forma rara e primária de resistência mineralocorticóide caracterizada por perda de sal leve a grave, restrita ao rim (pseudo-hipoaldosteronismo renal tipo 1) ou generalizada afetando muitos órgãos (pseudo-hipoaldosteronismo generalizado tipo 1). A apresentação clínica ocorre no período neonatal com défice de crescimento, vómitos e desidratação com achados bioquímicos de hipercaliémia, acidose metabólica e concentração plasmática elevada de aldosterona e renina."},"pl":{"name":"Pseudohipoaldosteronizm typu 1","synonyms":["PHA type 1"]},"cs":{"name":"Pseudohypoaldosteronismus, typ 1","synonyms":["PHA typ 1"]},"uk":{"name":"Псевдогіпоальдостеронізм, тип 1","synonyms":["PHA тип 1","PHA1"],"definition":"A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration."},"zh":{"name":"假性醛固酮减少症I型","synonyms":["PHA1型"]},"tr":{"name":"Psödohipoaldosteronizm tip 1","synonyms":["PHA türü 1"]}},"xrefs":[{"source":"OMIM","code":"177735","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"264350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1576878036"},{"source":"MONDO","code":"0019161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":444916,"name":"Pseudohypoaldosteronism","classifications":[188]}],"children":[{"orpha":171876,"name":"Generalized pseudohypoaldosteronism type 1","type":"Clinical subtype"},{"orpha":171871,"name":"Renal pseudohypoaldosteronism type 1","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"NR3C2","name":"nuclear receptor subfamily 3 group C member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16757525[PMID]_19571553[PMID]","hgnc":"7979","ensembl":"ENSG00000151623","omim":"600983","loci":["4q31.23"],"via":{"orpha":171871,"name":"Renal pseudohypoaldosteronism type 1"}},{"symbol":"SCNN1A","name":"sodium channel epithelial 1 subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19571553[PMID]_23416952[PMID]_23762408[PMID]","hgnc":"10599","ensembl":"ENSG00000111319","omim":"600228","loci":["12p13.31"],"via":{"orpha":171876,"name":"Generalized pseudohypoaldosteronism type 1"}},{"symbol":"SCNN1B","name":"sodium channel epithelial 1 subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19571553[PMID]_23426840[PMID]","hgnc":"10600","ensembl":"ENSG00000168447","omim":"600760","loci":["16p12.2"],"via":{"orpha":171876,"name":"Generalized pseudohypoaldosteronism type 1"}},{"symbol":"SCNN1G","name":"sodium channel epithelial 1 subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11231969[PMID]_19571553[PMID]","hgnc":"10602","ensembl":"ENSG00000166828","omim":"600761","loci":["16p12.2"],"via":{"orpha":171876,"name":"Generalized pseudohypoaldosteronism type 1"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.12,"area":"United Kingdom","status":"Validated","source":"24616761[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}