{"orpha":168601,"name":"Congenital enteropathy due to enteropeptidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital enterokinase deficiency"],"definition":"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168601/","orphanet_url":"https://www.orpha.net/en/disease/detail/168601","names":{"fr":{"name":"Entéropathie congénitale due à un déficit de l'entéropeptidase","synonyms":["Déficit congénital en entérokinase"],"definition":"Maladie gastroentérologique génétique rare caractérisée par un retard de croissance précoce, des oedèmes, une hypoprotéinémie, des diarrhées et une malabsorption des graisses (ou stéatorrhée) en présence d'une activité trypsique très faible, voire nulle, dans le liquide duodénal. La maladie coeliaque ou d'autres maladies du pancréas ou des muqueuses peuvent être associées."},"de":{"name":"Enteropathie, kongenitale, durch Enteropeptidase-Mangel","synonyms":["Enterokinase-Mangel, kongenitaler"]},"es":{"name":"Enteropatía congénita por deficiencia de enteropeptidasa","synonyms":["Deficiencia congénita de enteroquinasa"],"definition":"La enteropatía congénita por deficiencia de enteropeptidasa es una enfermedad gastroenterológica, genética y poco frecuente, caracterizada por un fallo de medro de inicio temprano, edema, hipoproteinemia, diarrea y malabsorción de grasas (o esteatorrea) en presencia de una actividad tripsina muy baja o nula en el líquido duodenal. Puede asociarse a enfermedad celíaca u otros trastornos pancreáticos o de la mucosa."},"it":{"name":"Enteropatia congenita da deficit di enteropeptidasi","synonyms":["Deficit congenito di enterochinasi"],"definition":"L'enteropatia congenita da deficit di enteropeptidasi è una malattia gastrointestinale genetica rara, caratterizzata da ritardo della crescita ad esordio precoce, edema, ipoproteinemia, diarrea e malassorbimento dei grassi (o steatorrea), con marcata riduzione o assente attività della tripsina nel liquido duodenale. Può associarsi a celiachia e ad altre malattie del pancreas o della mucosa."},"nl":{"name":"Congenitale enteropathie door enteropeptidasedeficiëntie","synonyms":["Congenitale enterokinasedeficiëntie"],"definition":"Congenitale enteropathie door enteropeptidasedeficiëntie is een zeldzame, genetische, gastro-enterologische ziekte die gekarakteriseerd wordt door vroege aanvang van groeiachterstand, oedeem, hypoproteïnemie, diarree en malabsorptie van vet (of steatorroe), in aanwezigheid van zeer lage of afwezige activiteit van trypsine in duodenaal vocht. Coeliakie, of andere stoornissen van pancreas of mucosa, kunnen geassocieerd zijn."},"pt":{"name":"Enteropatia congénita por deficiência de enteropeptidase"},"pl":{"name":"Wrodzona enteropatia spowodowana niedoborem enteropeptydazy","synonyms":["Wrodzony Niedobór enterokinazy"],"definition":"*Wrodzona enteropatia spowodowana niedoborem enteropeptydazy jest rzadką, genetycznie uwarunkowaną chorobą gastroenterologiczną, która charakteryzuje się zahamowaniem rozwoju o wczesnym początku, obrzękami, hipoproteinemią, biegunką i zaburzeniami wchłaniania tłuszczów (lub stolcami tłuszczowymi), przy braku lub bardzo niskiej aktywności trypsyny w soku dwunastniczym. Może towarzyszyć celiakia lub inne zaburzenia czynności trzustki lub błon śluzowych."},"cs":{"name":"Vrozená enteropatie způsobená deficitem enteropeptidázy","synonyms":["Vrozený deficit enterokinázy"]},"uk":{"name":"Вроджена ентеропатія внаслідок дефіциту ентеропептидази","synonyms":["Вроджений дефіцит ентерокінази"],"definition":"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated."},"zh":{"name":"肠肽酶缺乏所致先天性肠病","synonyms":["先天性肠激酶缺乏症"],"definition":"肠激酶缺乏所致先天性肠病是一种罕见的遗传性胃肠疾病，其主要临床表现为在十二指肠液的胰蛋白酶缺乏或活性极低的情况下，出现早发性发育不良、水肿、低蛋白血症、腹泻和脂肪吸收不良（或脂肪泄），脂肪泄可能与其它胰腺疾病或黏膜疾病相关。"},"tr":{"name":"Enteropeptidaz eksikliğine bağlı Doğumsal enteropati","synonyms":["Doğumsal enterokinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"226200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1384317078"},{"source":"MONDO","code":"0009173","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268416","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104006,"name":"Congenital intestinal disease due to an enzymatic defect","classifications":[152,156]}],"children":[],"genes":[{"symbol":"TMPRSS15","name":"transmembrane serine protease 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11719902[PMID]","hgnc":"9490","ensembl":"ENSG00000154646","omim":"606635","loci":["21q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}