{"orpha":563708,"name":"Syndromic congenital sodium diarrhea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Syndromic congenital tufting enteropathy"],"definition":"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-563708/","orphanet_url":"https://www.orpha.net/en/disease/detail/563708","names":{"fr":{"name":"Diarrhée sodée congénitale syndromique","synonyms":["Entéropathie congénitale en touffes syndromique"],"definition":"Maladie intestinale syndromique génétique rare caractérisée par une diarrhée liquide aiguë congénitale, dont les concentrations en sodium sont élevées, une hyponatrémie et une acidose métabolique, et généralement par une atrésie choanale uni- ou bilatérale et une érosion de la cornée. Parmi les autres malformations congénitales peuvent figurer une atrésie intestinale et une héxadactylie."},"de":{"name":"Syndromale kongenitale Natriumdiarrhöe","synonyms":["Syndromale kongenitale Tufting-Enteropathie"],"definition":"Eine seltene angeborene syndromale Darmerkrankung, die sich im Neugeborenenalter durch schwere wässrige Durchfälle mit hoher Natriumkonzentration, Hyponatriämie und metabolischer Azidose manifestiert und im Allgemeinen durch eine ein- oder beidseitige Atresie der Gallengänge und Hornhauterosionen gekennzeichnet ist. Weitere angeborene Fehlbildungen können Darmatresie und Hexadaktylie sein."},"es":{"name":"Diarrea sódica congénita sindrómica","synonyms":["Enteropatía congénita en penacho congénita"],"definition":"Es un trastorno intestinal sindrómico, genético y poco frecuente, caracterizado por la aparición congénita de diarrea acuosa grave con elevadas concentraciones de sodio, hiponatremia y acidosis metabólica y, por lo general, atresia coanal uni- o bilateral y erosiones corneales. Otras malformaciones congénitas pueden incluir la atresia intestinal y la hexadactilia."},"it":{"name":"Diarrea sodica congenita sindromica","synonyms":["Enteropatia sindromica congenita a ciuffi"],"definition":"Si tratta di una malattia intestinale sindromica rara, di origine genetica, caratterizzata da diarrea acquosa grave congenita che contiene alte concentrazioni di sodio, iponatriemia, acidosi metabolica e, in genere, atresia delle coane mono- o bilaterale ed erosioni corneali. Altre malformazioni congenite comprendono l'atresia intestinale e l'esadattilia."},"nl":{"name":"Syndromale congenitale natriumdiarree","synonyms":["Syndromale congenitale tufting-enteropathie"],"definition":"Een zeldzame, genetische, syndromale aandoening van darm, gekarakteriseerd door congenitale aanvang van ernstige waterige diarree met hoge natriumconcentratie, hyponatriëmie en metabole acidose, en doorgaans uni- of bilaterale choanale atresie, en erosie van cornea. Mogelijke bijkomende congenitale malformaties zijn intestinale atresie en hexadactylie."},"pt":{"name":"Diarreia sódio-relacionada congénita sindromática"},"pl":{"name":"Syndromiczna wrodzona biegunka sodowa","synonyms":["Syndromic congenital tufting enteropathy"]},"cs":{"name":"Syndromický vrozený sodíkový průjem","synonyms":["Syndromic congenital tufting enteropathy"]},"uk":{"name":"Синдром вродженої натрієвої діареї","synonyms":["Синдром вродженої ворсинчастої ентеропатії"],"definition":"A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly."},"zh":{"name":"综合征性先天性钠盐腹泻","synonyms":["综合征性先天性簇绒肠病"]},"tr":{"name":"Sendromik doğumsal sodyum diyare","synonyms":["Sendromik doğumsal tafting enteropati"]}},"xrefs":[{"source":"OMIM","code":"270420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K59.8","qualifier":"NTBT","icd_relation":"attributed","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":"attributed","validated":true},{"source":"MONDO","code":"0034204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680120","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]}],"children":[],"genes":[{"symbol":"SPINT2","name":"serine peptidase inhibitor, Kunitz type 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26358773[PMID]_19185281[PMID]","hgnc":"11247","ensembl":"ENSG00000167642","omim":"605124","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}