{"orpha":329242,"name":"Congenital chronic diarrhea with protein-losing enteropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital chronic diarrhea with exudative enteropathy"],"definition":"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329242/","orphanet_url":"https://www.orpha.net/en/disease/detail/329242","names":{"fr":{"name":"Diarrhée chronique congénitale avec entéropathie exsudative","synonyms":["Diarrhée chronique congénitale avec perte de protéines"],"definition":"Maladie intestinale rare d'origine génétique caractérisée par une diarrhée aqueuse chronique, non infectieuse, non sanglante, d'apparition précoce, associée à une entéropathie avec perte de protéines qui entraîne une hypoalbuminémie, une hypogammaglobulinémie et des taux élevés d'alpha-1-antitrypsine dans les selles. Sur le plan clinique, elle se manifeste par une diarrhée sévère et réfractaire, un retard de croissance staturo-pondérale, des infections récurrentes et des oedèmes."},"de":{"name":"Kongenitale chronische Diarrhoe mit Protein-Verlust-Enteropathie","synonyms":["Kongenitale chronische Diarrhoe mit exudativer Enteropathie"]},"es":{"name":"Diarrea crónica congénita con enteropatía perdedora de proteínas","synonyms":["Diarrea crónica congénita con enteropatía exudativa"],"definition":"La diarrea crónica congénita con enteropatía perdedora de proteínas es una enfermedad intestinal, genética y poco frecuente, caracterizada por diarrea acuosa de aparición temprana, crónica, no infecciosa, no sanguinolenta, asociada a enteropatía perdedora de proteínas que produce hipoalbuminemia, hipogammaglobulinemia y elevación de alfa 1-antitripsina fecal. Los afectados suelen presentar diarrea grave e intratable, fallo de medro, infecciones recurrentes y edema."},"it":{"name":"Diarrea cronica congenita associata ad enteropatia con perdita di proteine","synonyms":["Diarrea cronica congenita con enteropatia essudativa"],"definition":"La diarrea cronica congenita associata ad enteropatia con perdita di proteine è una malattia intestinale genetica rara, caratterizzata da diarrea acquosa cronica non emorragica, non infettiva ad esordio precoce, associata ad enteropatia proteino-disperdente, con conseguente ipoalbuminemia, ipogammaglobulinemia e livelli elevati di alfa-1 antitripsina nelle feci. Di solito i pazienti presentano diarrea grave non trattabile, ritardo della crescita, infezioni ricorrenti ed edema."},"nl":{"name":"Congenitale chronische diarree met proteïneverliezende enteropathie","synonyms":["Congenitale chronische diarree met exsudatieve enteropathie"],"definition":"Congenitale chronische diarree met proteïneverliezende enteropathie is een zeldzame, genetische darmziekte en wordt gekarakteriseerd door vroeg aanvangende, chronische, niet-infectieuze, niet-bloederige, waterige diarree geassocieerd met eiwitverliezende enteropathie die leidt tot hypoalbuminemie, hypogammaglobulinemie en verhoogde gehaltes van alfa-1-antitrypsine in de stoelgang. Patiënten vertonen doorgaans ernstige, hardnekkige diarree, groeiachterstand, recurrente infecties en oedeem."},"pt":{"name":"Diarreia crónica congénita com enteropatia com perda de proteína","synonyms":["Diarreia crónica congénita com enteropatia exsudativa"]},"pl":{"name":"Wrodzona biegunka przewlekła z enteropatią z utratą białka","synonyms":["Wrodzona biegunka przewlekła z enteropatią wysiękową"],"definition":"*Wrodzona biegunka przewlekła z enteropatią z utratą białka jest rzadką, genetycznie uwarunkowaną chorobą jelit, która charakteryzuje się przewlekłą, niezakaźną, wodnistą biegunką bez domieszki krwi, o wczesnym początku, związaną z enteropatią z utratą białka, prowadzącą do hipoalbuminemii, hipogammaglobulinemii i podwyższenia stężenia alfa-1-antytrypsyny w stolcu. Klinicznie objawia się ciężką, nieuleczalną biegunką, zahamowaniem rozwoju, nawracającymi infekcjami i obrzękami."},"cs":{"name":"Vrozená chronická diarea s protein-ztrácející enteropatií","synonyms":["Vrozená chronická diarea s exudativní enteropatií"]},"uk":{"name":"Вроджена хронічна діарея з ентеропатією з втратою білка","synonyms":["Вроджена хронічна діарея з ексудативною ентеропатією"],"definition":"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema."},"zh":{"name":"先天性慢性腹泻伴蛋白丢失性肠病","synonyms":["先天性慢性腹泻伴渗出性肠病"],"definition":"先天性慢性腹泻伴蛋白丢失性肠病是一种罕见的遗传性肠道疾病，其特点是与蛋白丢失性肠病相关的早发、慢性、非传染性、非血性、水样腹泻，导致低蛋白血症、低丙种球蛋白血症和大便α-1-抗胰蛋白酶升高。患者通常表现为严重、顽固性腹泻，生长发育迟滞，反复感染和水肿。"},"tr":{"name":"Protein kaybettiren enteropati ile seyreden doğumsal kronik diyare","synonyms":["Eksüdatif enteropati ile seyreden doğumsal kronik diyare"]}},"xrefs":[{"source":"OMIM","code":"615863","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618183","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA96.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"14375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751003","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]}],"children":[],"genes":[{"symbol":"DGAT1","name":"diacylglycerol O-acyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23114594[PMID]","hgnc":"2843","ensembl":"ENSG00000185000","omim":"604900","loci":["8q24.3"]},{"symbol":"PLVAP","name":"plasmalemma vesicle associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29661969[PMID]","hgnc":"13635","ensembl":"ENSG00000130300","omim":"607647","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23114594[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}