{"orpha":103908,"name":"Congenital sodium diarrhea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CSD","NHE3 deficiency","Na-H exchanger 3 deficiency","Non-syndromic congenital sodium diarrhea","Sodium/proton exchanger-3 deficiency"],"definition":"A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-103908/","orphanet_url":"https://www.orpha.net/en/disease/detail/103908","names":{"fr":{"name":"Diarrhée sodée congénitale","synonyms":["Diarrhée congénitale avec malabsorption du sodium","Diarrhée sodée congénitale non syndromique","Déficit de NHE3","Déficit de l'échangeur Na-H de type 3","Déficit de l'échangeur sodium-hydrogène 3"],"definition":"Anomalie rare du transport intestinal, non syndromique et d'origine génétique, caractérisée par une diarrhée liquide aiguë congénitale, dont les concentrations en sodium sont élevées, une hyponatrémie et une acidose métabolique."},"de":{"name":"Natrium-Diarrhoe, kongenitale","synonyms":["CSD","NHE3-Defizienz","Na-H-Austauscher-Defizienz","Natrium-/Protonenaustauscher-3-Mangel","Nicht-syndromale kongenitale Natrium-Diarrhoe"],"definition":"Ein genetisch bedingter nicht-syndromaler Transportdefekt des Darms, der sich durch angeborene schwere wässrige Durchfälle mit hohen Natriumkonzentrationen, Hyponatriämie und metabolische Azidose auszeichnet."},"es":{"name":"Diarrea sódica congénita","synonyms":["Deficiencia de NHE3","Deficiencia del intercambiador Na-H tipo 3","Deficiencia del intercambiador de sodio/protones tipo 3","Diarrea sódica congénita no sindrómica"],"definition":"Es un defecto no sindrómico del transporte intestinal, de base genética y poco frecuente caracterizado por una grave diarrea acuosa de comienzo neonatal con altas concentraciones de sodio, hiponatremia y acidosis metabólica."},"it":{"name":"Diarrea da sodio congenita","synonyms":["Deficit dello scambiatore Na-H 3","Deficit dello scambiatore sodio/protone 3","Deficit di NHE3","Diarrea sodica congenita non sindromica","Deficit dell'attività di scambio Na-H","CSD"],"definition":"Si tratta di un difetto genetico raro non sindromico del trasporto intestinale, caratterizzato da diarrea acquosa grave congenita, che contiene elevate concentrazioni di sodio, iponatriemia e acidosi metabolica."},"nl":{"name":"Congenitale natriumdiarree","synonyms":["CSD","Deficiëntie van Na-H-antiporter 3","Deficiëntie van natrium/proton-antiporter 3","NHE3-deficiëntie","Niet-syndromale congenitale natriumdiarree"],"definition":"Een zeldzaam, genetisch, niet-syndromaal defect van transport in darm, gekarakteriseerd door congenitale aanvang van ernstige waterige diarree met hoge natriumconcentratie, hyponatriëmie, en metabole acidose."},"pt":{"name":"Diarreia sódio-relacionada congénita","synonyms":["CSD","Deficiência NHE3","Deficiência de permutador Na-H","Deficiência do permutador-3 de sódio/protão","Diarreia sódio-relacionada congénita não-sindromática"],"definition":"A diarréia congénita por sódio é caracterizada por grave diarréia aquosa contendo altas concentrações de sódio, hiponatremia e acidose metabólica."},"pl":{"name":"Wrodzona biegunka sodowa","synonyms":["Niedobór wymiany Na-H"]},"cs":{"name":"Vrozený průjem způsobený poruchou sodíkového kanálu","synonyms":["Deficit výmeny Na-H","Deficit výměny Na-H"]},"uk":{"name":"Вроджена натрієва діарея","synonyms":["Дефіцит обміну Na-H","Несиндромна вроджена натрієва діарея без синдрому"],"definition":"A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis."},"zh":{"name":"先天性失钠性腹泻","synonyms":["非综合征性先天性失钠性腹泻"],"definition":"先天性钠性腹泻的特点是严重的水样腹泻，含有高浓度的钠，低钠血症和代谢性酸中毒。"},"tr":{"name":"Doğumsal sodyum ishali","synonyms":["Na-H değişim eksikliği","Sendromik olmayan doğumsal sodyum diyare"]}},"xrefs":[{"source":"OMIM","code":"270420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616868","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1461817237"},{"source":"MONDO","code":"0015170","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0267663","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104003,"name":"Congenital intestinal transport defect","classifications":[152,156,233]},{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":717851,"name":"Rare non-syndromic inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"SLC9A3","name":"solute carrier family 9 member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26358773[PMID]","hgnc":"11073","ensembl":"ENSG00000066230","omim":"182307","loci":["5p15.33"]},{"symbol":"GUCY2C","name":"guanylate cyclase 2C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25994218[PMID]","hgnc":"4688","ensembl":"ENSG00000070019","omim":"601330","loci":["12p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"26835907[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26835907[PMID]_ORPHANET"}],"phenotypes":null}