{"orpha":53689,"name":"Congenital chloride diarrhea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53689/","orphanet_url":"https://www.orpha.net/en/disease/detail/53689","names":{"fr":{"name":"Diarrhée chlorée congénitale","definition":"Maladie intestinale rare d'origine génétique caractérisée par une diarrhée liquide persistante, potentiellement létale, avec des taux excessifs de chlorure dans les selles, une hypochlorémie, une hyponatrémie, une hypokaliémie et une alcalose métabolique, entraînant une déshydratation chronique et un retard de croissance staturo-pondéral. L'échographie prénatale révèle généralement un polyhydramnios et une dilatation significative des boucles intestinales du foetus."},"de":{"name":"Chlorid-Diarrhoe, kongenitale","synonyms":["Chlorid-Diarrhoe-Syndrom"],"definition":"Eine seltene genetisch bedingte Darmerkrankung, die durch anhaltende, potenziell lebensbedrohliche wässrige Durchfälle mit übermäßigen Chloridkonzentrationen im Stuhl, Hypochlorämie, Hyponatriämie, Hypokaliämie und metabolischer Alkalose gekennzeichnet ist und zu chronischer Dehydratation und Gedeihstörung führt. Bei der vorgeburtlichen Ultraschalluntersuchung zeigt sich typischerweise ein Polyhydramnion und eine deutliche Dilatation der fetalen Darmschlingen."},"es":{"name":"Diarrea clorada congénita","synonyms":["Clorhidrorrea congénita"],"definition":"Es una enfermedad intestinal de base genética poco frecuente caracterizada por diarrea acuosa persistente, potencialmente mortal, con elevadas concentraciones de cloro en las heces, hipocloremia, hiponatremia, hipopotasemia y alcalosis metabólica, que produce deshidratación crónica y fallo de medro. La ecografía prenatal habitualmente revela polihidramnios y dilatación significativa de asas intestinales."},"it":{"name":"Diarrea congenita da cloruri","definition":"Si tratta di una malattia genetica rara dell'intestino, caratterizzata da diarrea acquosa persistente e potenzialmente letale, associata a livelli elevati di cloro nelle feci, ipocloremia, iponatriemia, ipokaliemia e alcalosi metabolica, che esista nella disidratazione cronica e nel ritardo della crescita. Di solito l''ecografia prenatale evidenzia polidramnios e una significativa dilatazione delle anse intestinali del feto."},"nl":{"name":"Congenitale chloridediarree","definition":"Een zeldzame, genetische aandoening van darm, gekarakteriseerd door persisterende, potentieel levensbedreigende, waterige diarree met overmatige chloridegehaltes in feces, hypochloriëmie, hyponatriëmie, hypokaliëmie, en metabole alkalose, wat resulteert in chronische dehydratie en groeifalen. Prenatale echografie toont doorgaans polyhydramnion en significante dilatatie van foetale darmlissen."},"pt":{"name":"Diarreia por cloreto congénita","synonyms":["Diarreia cloro-relacionada congénita"]},"pl":{"name":"Wrodzona biegunka chlorkowa"},"cs":{"name":"Vrozený průjem s poruchou chloridů"},"uk":{"name":"Вроджена хлоридна діарея","definition":"A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops."},"zh":{"name":"先天性氯化物性腹泻"},"tr":{"name":"Doğumsal klorür ishal"}},"xrefs":[{"source":"OMIM","code":"214700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"606816226"},{"source":"MONDO","code":"0008964","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0267662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10001","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":717851,"name":"Rare non-syndromic inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"SLC26A3","name":"solute carrier family 26 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11524734[PMID]_21394828[PMID]","hgnc":"3018","ensembl":"ENSG00000091138","omim":"126650","loci":["7q22.3-q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}