{"orpha":570371,"name":"Bartter syndrome type 5","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bartter syndrome type V","Transient antenatal Bartter syndrome"],"definition":"A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-570371/","orphanet_url":"https://www.orpha.net/en/disease/detail/570371","names":{"fr":{"name":"Syndrome de Bartter type 5","synonyms":["Syndrome de Bartter anténatal transitoire","Syndrome de Bartter type V"],"definition":"Forme néonatale de syndrome de Bartter, caractérisée par un polyhydramnios maternel précoce, une perte excessive de sel par voie rénale et une alcalose métabolique secondaire au cours de la période néonatale, disparaissant complètement dans les premiers mois de vie."},"de":{"name":"Bartter-Syndrom Typ 5","synonyms":["Bartter -Syndrom, antenatales transientes","Bartter-Syndrom Typ V"],"definition":"Eine Form des pränatalen Bartter-Syndroms, die durch ein frühes mütterliches Polyhydramnion, einen übermäßigen renalen Salzverlust mit sekundärer metabolischer Alkalose in der Neugeborenenperiode gekennzeichnet ist, die innerhalb der ersten Lebensmonate vollständig verschwindet."},"es":{"name":"Síndrome de Bartter tipo 5","synonyms":["Síndrome de Bartter prenatal transitorio","Síndrome de Bartter tipo V"],"definition":"Es una forma de síndrome de Bartter prenatal caracterizada por polihidramnios materno temprano, pérdida renal excesiva de sal con alcalosis metabólica secundaria en el periodo neonatal que desaparece por completo en los primeros meses de vida."},"it":{"name":"Sindrome di Bartter prenatale transitoria","synonyms":["Sindrome di Bartter tipo V","Sindrome prenatale transitoria di Bartter"],"definition":"Si tratta di una forma della di sindrome di Bartter prenatale, caratterizzata da polidramnios materno precoce, eccessiva perdita di sali attraverso i reni, associata ad alcalosi metabolica secondaria nel periodo neonatale, che si risolve completamente nei primi mesi di vita."},"nl":{"name":"Syndroom van Bartter type 5","synonyms":["Syndroom van Bartter type V","Transiënt prenataal syndroom van Bartter"],"definition":"Een vorm van prenataal syndroom van Bartter, gekenmerkt door vroege maternale polyhydramnion, en excessief renaal zoutverlies met secundaire metabole alkalose in de neonatale periode dat volledig verdwijnt binnen de eerste levensmaanden."},"pt":{"name":"Síndrome Bartter tipo 5","synonyms":["Síndrome Bartter pré-natal transitório","Síndrome Bartter tipo V"],"definition":"Forma de síndrome Bartter pré-natal caracterizada por polidrâmnio materno precoce, perda excessiva renal de sal com alcalose metabólica secundária no período neonatal que desaparece completamente nos primeiros meses de vida."},"pl":{"name":"Przemijający przedporodowy zespół Barttera","synonyms":["Zespół Barttera typ 5"]},"cs":{"name":"Bartterův syndrom typu 5","synonyms":["Bartter syndrome type V","Transient antenatal Bartter syndrome"]},"uk":{"name":"Синдром Барттера, тип 5","synonyms":["Синдром Барттера, тип V","Транзиторний антенатальний синдром Барттера"],"definition":"A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life."},"zh":{"name":"短暂性产前巴特综合征","synonyms":["巴特综合征5型"]},"tr":{"name":"Geçici antenatal Bartter sendromu","synonyms":["Bartter sendromu tip 5"]}},"xrefs":[{"source":"OMIM","code":"300971","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.43","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010503","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680366","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":112,"name":"Bartter syndrome","classifications":[156,188]}],"children":[],"genes":[{"symbol":"MAGED2","name":"MAGE family member D2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27120771[PMID]","hgnc":"16353","ensembl":"ENSG00000102316","omim":"300470","loci":["Xp11.21"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27120771[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"27120771[PMID]_9630034[PMID]"}],"phenotypes":null}