{"orpha":171871,"name":"Renal pseudohypoaldosteronism type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal dominant PHA1","Autosomal dominant pseudohypoaldosteronism type 1","Renal PHA1"],"definition":"A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171871/","orphanet_url":"https://www.orpha.net/en/disease/detail/171871","names":{"fr":{"name":"Pseudohypoaldostéronisme type 1 rénal","synonyms":["PHA1 autosomique dominant","PHA1 rénal","Pseudohypoaldostéronisme type 1 autosomique dominant"],"definition":"Forme de pseudohypoaldostéronisme type 1, caractérisée par une légère résistance aux minéralocorticoïdes, qui est limitée aux reins et qui s'améliore généralement au cours de la petite enfance. La maladie se déclare habituellement pendant la période néonatale par une perte de poids, un retard de croissance, des vomissements et une déshydratation associés à une hyponatrémie, une hyperkaliémie et une acidose métabolique, ainsi qu'à des taux élevés d'aldostérone et de rénine."},"de":{"name":"Pseudohypoaldosteronismus, renaler, Typ 1","synonyms":["Pseudohypoaldosteronismus, autosomal-dominanter, Typ 1","Renaler PHA1"],"definition":"Ein Subtyp des Pseudohypoaldosteronismus Typ 1, der durch eine leichte Mineralokortikoidresistenz gekennzeichnet ist, die auf die Nieren beschränkt ist und sich in der Regel in der frühen Kindheit bessert. Typische Symptome sind Gewichtsverlust, Gedeihstörung, Erbrechen und Dehydratation in Verbindung mit Hyponatriämie, Hyperkaliämie und metabolischer Azidose sowie erhöhten Aldosteron- und Reninspiegeln in der Neugeborenenperiode."},"es":{"name":"Pseudohipoaldosteronismo renal tipo 1","synonyms":["PHA1 autosómico dominante","PHA1 renal","Pseudohipoaldosteronismo autosómico dominante tipo 1"],"definition":"Es una forma de pseudohipoaldosteronismo tipo 1 que se caracteriza por una leve resistencia a mineralocorticoides restringida a los riñones y que suele mejorar en la infancia temprana. La presentación típica se da en el período neonatal con pérdida de peso, retraso del crecimiento, vómitos y deshidratación, junto con hiponatremia, hiperpotasemia y acidosis metabólica, así como niveles elevados de aldosterona y renina."},"it":{"name":"Pseudoipoaldosteronismo renale tipo 1","synonyms":["PHA1 autosomico dominante","PHA1 renale","Pseudoipoaldosteronismo autosomico dominante tipo 1"],"definition":"Si tratta di una forma di pseudoipoaldosteronismo tipo 1, caratterizzata da una lieve resistenza ai mineralcorticoidi, limitata ai reni, che di solito migliora nella prima infanzia. In genere la malattia esordisce nel periodo neonatale con perdita di peso, ritardo della crescita, vomito e disidratazione, associati ad iponatriemia, iperkaliemia, acidosi metabolica e livelli elevati di aldosterone e renina."},"nl":{"name":"Renaal pseudohypoaldosteronisme type 1","synonyms":["Autosomaal dominant PHA1","Autosomaal dominant pseudohypoaldosteronisme type 1","Renaal PHA1"],"definition":"Een vorm van pseudohypoaldosteronisme type 1, gekenmerkt door milde resistentie voor mineralocorticoïd die beperkt is tot nier en meestal verbetert in de vroege kindertijd. De aandoening presenteert zich doorgaans in de neonatale periode met gewichtsverlies, niet-gedijen, braken en dehydratie, in associatie met hyponatriëmie, hyperkaliëmie en metabole acidose, alsook verhoogde gehaltes van aldosteron en renine."},"pt":{"name":"Pseudo-hipoaldosteronismo renal tipo 1","synonyms":["PHA1 autossómica dominante","PHA1 renal","Pseudo-hipoaldosteronismo autossómico dominante tipo 1"],"definition":"Forma de pseudo-hipoaldosteronismo tipo 1, caracterizada por leve resistência aos mineralocorticóides restrita aos rins e que geralmente melhora na primeira infância. A apresentação típica é no período neonatal com perda de peso, atraso do crescimento, vómitos e desidratação em associação com hiponatremia, hipercaliémia e acidose metabólica, bem como níveis elevados de aldosterona e renina."},"pl":{"name":"Pseudohipoaldosteronizm typu 1 pochodzenia nerkowego","synonyms":["Autosomalny dominujący pseudohipoaldosteronizm typu 1"]},"cs":{"name":"Renální pseudohypoaldosteronismus, typ 1","synonyms":["Autozomálně dominantní pseudohypoaldosteronismus, typ 1"]},"uk":{"name":"Нирковий псевдогіпоальдостеронізм, тип 1","synonyms":["Аутосомно-домінантний PHA1","Аутосомно-домінантний псевдогіпоальдостеронізм типу 1","Нирковий PHA1"],"definition":"A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels."},"zh":{"name":"肾型假性醛固酮减少症1型","synonyms":["常染色体显性遗传假性醛固酮减少症1型"],"definition":"肾性假醛固酮减少症1型是一种轻度原发性盐皮质激素抵抗病，只局限于肾脏。"},"tr":{"name":"Böbrek psödohipoaldosteronizm tip 1","synonyms":["Otozomal baskın psödohipoaldosteronizm tip 1"]}},"xrefs":[{"source":"OMIM","code":"177735","qualifier":"E","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":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1829275943"},{"source":"MONDO","code":"0008329","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1449842","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9145","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":756,"name":"Pseudohypoaldosteronism type 1","classifications":[156,188]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.51,"area":"United Kingdom","status":"Validated","source":"24616761[PMID]"}],"phenotypes":null}