{"orpha":171876,"name":"Generalized pseudohypoaldosteronism type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal recessive PHA1","Autosomal recessive pseudohypoaldosteronism type 1","Generalized PHA1"],"definition":"A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171876/","orphanet_url":"https://www.orpha.net/en/disease/detail/171876","names":{"fr":{"name":"Pseudohypoaldostéronisme type 1 généralisé","synonyms":["PHA1 autosomique récessif","PHA1 généralisé","Pseudohypoaldostéronisme type 1 autosomique récessif"],"definition":"Forme sévère de pseudohypoaldostéronisme type 1, caractérisée par une perte de sel affectant de nombreux organes, dont les reins, le côlon et les glandes sudoripares et salivaires. La maladie se déclare dans les premières semaines de vie par une déshydratation sévère, des vomissements et un retard de croissance associés à une hyponatrémie, une hyperkaliémie et une acidose métabolique, ainsi que par des taux élevés d'aldostérone et de rénine. Aucun cas de rémission n'a été rapporté et les patients présentent des épisodes récurrents de perte de sel qui engagent leur pronostic vital."},"de":{"name":"Pseudohypoaldosteronismus, generalisierter, Typ 1","synonyms":["Generalisierter PHA1","Pseudohypoaldosteronismus, autosomal-rezessiver, Typ 1"],"definition":"Ein schwerer Subtyp des Pseudohypoaldosteronismus Typ 1, der durch Salzverlust in mehreren Organen, einschließlich Niere, Dickdarm, Schweiß- und Speicheldrüsen, gekennzeichnet ist. Die Erkrankung beginnt in den ersten Lebenswochen mit schwerer Dehydratation, Erbrechen und Gedeihstörung in Verbindung mit Hyponatriämie, Hyperkaliämie und metabolischer Azidose sowie erhöhten Aldosteron- und Reninspiegeln. Es wird von keiner Remission berichtet, und die Patienten leiden unter wiederkehrenden lebensbedrohlichen Episoden von Salzverlust."},"es":{"name":"Pseudohipoaldosteronismo generalizado tipo 1","synonyms":["PHA1 autosómico recesivo","PHA1 generalizado","Pseudohipoaldosteronismo autosómico recesivo tipo 1"],"definition":"Es una forma grave de pseudohipoaldosteronismo tipo 1 caracterizada por pérdida de sal en múltiples órganos, incluyendo el riñón, el colon y las glándulas sudoríparas y salivales. En las primeras semanas de vida se presenta con deshidratación grave, vómitos y retraso del crecimiento, junto con hiponatremia, hiperpotasemia y acidosis metabólica, así como niveles elevados de aldosterona y renina. No se ha informado sobre casos que presenten remisión y los pacientes sufren episodios recurrentes de pérdida de sal potencialmente mortales."},"it":{"name":"Pseudoipoaldosteronismo generalizzato tipo 1","synonyms":["PHA1 autosomico recessivo","PHA1 generalizzato","Pseudoipoaldosteronismo autosomico recessivo tipo 1"],"definition":"Si tratta di una forma grave di pseudoipoaldosteronismo tipo 1, caratterizzata dalla perdita di sali in diversi organi (reni, colon, ghiandole sudoripare e salivari). La malattia esordisce nelle prime settimane di vita con disidratazione grave, vomito e ritardo della crescita, associati ad iponatriemia, iperkaliemia, acidosi metabolica e livelli elevati di aldosterone e renina. Non si osserva remissione e i pazienti soffrono di episodi ricorrenti e potenzialmente letali di perdita di sali."},"nl":{"name":"Gegeneraliseerd pseudohypoaldosteronisme type 1","synonyms":["Autosomaal recessief PHA1","Autosomaal recessief pseudohypoaldosteronisme type 1","Gegeneraliseerd PHA1"],"definition":"Een ernstige vorm van pseudohypoaldosteronisme type 1, gekenmerkt door zoutverlies in meerdere organen, waaronder nier, colon, en zweet- en speekselklieren. De aandoening presenteert zich in de eerste levensweken met ernstige dehydratie, braken en niet-gedijen, in associatie met hyponatriëmie, hyperkaliëmie en metabole acidose, alsook verhoogde gehaltes van aldosteron en renine. Er wordt geen remissie gerapporteerd, en patiënten lijden aan recidiverende levensbedreigende episodes van zoutverlies."},"pt":{"name":"Pseudo-hipoaldosteronismo tipo 1 generalizado","synonyms":["PHA1 autossómica recessiva","PHA1 generalizada","Pseudo-hipoaldosteronismo autossómico recessivo tipo 1"],"definition":"Forma grave de pseudo-hipoaldosteronismo tipo 1, caracterizada por perda de sal em vários órgãos, incluindo rim, cólon e glândulas salivares e sudoríparas. A apresentação clínica ocorre nas primeiras semanas de vida com desidratação grave, vómitos e atraso do crescimento em associação com hiponatremia, hipercaliémia e acidose metabólica, e níveis elevados de aldosterona e renina. Não existem relatos de remissão e os doentes sofrem episódios recorrentes de perda de sal que implicam risco de vida."},"pl":{"name":"Uogólniony pseudohipoaldosteronizm typu 1","synonyms":["Autosomalny recesywny pseudohipoaldosteronizm typu 1"]},"cs":{"name":"Generalizovaný pseudohypoaldosteronismus, typ 1","synonyms":["Autozomálně recesivní pseudohypoaldosteronismus, typ 1"]},"uk":{"name":"Генералізований псевдогіпоальдостеронізм, тип 1","synonyms":["Аутосомно-рецесивний PHA1","Аутосомно-рецесивний псевдогіпоальдостеронізм типу 1","Узагальнений PHA1"],"definition":"A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss."},"zh":{"name":"全身性假性醛固酮减少症1型","synonyms":["常染色体隐性遗传假性醛固酮减少症1型"],"definition":"全身性假醛固酮减少症1型是一种重度原发性盐皮质激素抵抗病，全身受累，多器官失盐。"},"tr":{"name":"Jeneralize psödohipoaldosteronizm tip 1","synonyms":["Otozomal çekinik psödohipoaldosteronizm tip 1"]}},"xrefs":[{"source":"OMIM","code":"264350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620125","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620126","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":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2096118492"},{"source":"MONDO","code":"0009917","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1449843","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4552","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":"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"United Kingdom","status":"Validated","source":"24616761[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-25","source":"28804203[PMID]_31301676[PMID]","terms":[{"hpo":"HP:0040085","label":"Abnormal circulating aldosterone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011740","label":"Glucocortocoid-insensitive primary hyperaldosteronism","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:0000848","label":"Increased circulating renin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031274","label":"Hypovolemic shock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null}]}}