{"orpha":92050,"name":"Congenital tufting enteropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IED","Intestinal epithelial dysplasia"],"definition":"Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-92050/","orphanet_url":"https://www.orpha.net/en/disease/detail/92050","names":{"fr":{"name":"Entéropathie congénitale en touffes","synonyms":["Dysplasie épithéliale intestinale"],"definition":"Entéropathie congénitale rare qui se manifeste par une diarrhée sévère et réfractaire d'apparition précoce conduisant à une défaillance intestinale irréversible."},"de":{"name":"Tufting-Enteropathie, kongenitale","synonyms":["IED","Intestinale epitheliale Dysplasie","Kongenitale Intraktable Durchfälle mit epithelialen Anomalien"],"definition":"Die kongenitale Tufting-Enteropathie ist eine seltene kongenitale Enteropathie, die sich durch eine früh einsetzende schwere und hartnäckige Diarrhöe auszeichnet, die zu einem irreversiblen Darmversagen führt."},"es":{"name":"Enteropatía congénita en penacho","synonyms":["DEI","Displasia epitelial intestinal"],"definition":"La enteropatía congénita en penacho es una enfermedad genética poco frecuente que se presenta con una diarrea grave e intratable de inicio temprano y que produce un fracaso intestinal irreversible."},"it":{"name":"Enteropatia congenita a ciuffi","synonyms":["Displasia epiteliale intestinale","IED"],"definition":"L'enteropatia congenita a ciuffi è un'enteropatia congenita rara che esordisce con diarrea precoce grave e intrattabile che esita nell'insufficienza intestinale irreversibile."},"nl":{"name":"Congenitale tufting-enteropathie","synonyms":["Congenitale intestinale epitheliale dysplasie","IED","Intestinale epitheliale dysplasie"],"definition":"Een zeldzame congenitale enteropathie, gekarakteriseerd door ernstige en refractaire diarree met vroege aanvang, wat leidt tot onomkeerbaar intestinaal falen."},"pt":{"name":"Enteropatia congénita entufada","synonyms":["IED","Displasia do epitélio intestinal"]},"pl":{"name":"Wrodzona enteropatia kępkowa","synonyms":["IED","Dysplazja nabłonka jelit"]},"cs":{"name":"Střevní epiteliální dysplázie","synonyms":["IED","Vrozený familiární neřešitelný průjem s abnormalitami epitelu","Chomáčovitá enteropatie"]},"uk":{"name":"Вроджена ворсинчаста ентеропатія","synonyms":["IED","Дисплазія кишкового епітелію","Несиндромальна вроджена ворсинчаста ентеропатія"],"definition":"Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure."},"zh":{"name":"先天性簇绒肠病","synonyms":["非综合征型先天性簇绒肠病"],"definition":"先天性簇状肠病是一种罕见的先天性肠病，表现为早期严重而顽固的腹泻，可导致不可逆的肠道衰竭。"},"tr":{"name":"Doğumsal tafting enteropati","synonyms":["IED","Bağırsak epitel displazisi","Sendromik olmayan doğumsal tufting enteropatisi"]}},"xrefs":[{"source":"OMIM","code":"613217","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1536004957"},{"source":"MONDO","code":"0013184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275062","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10630","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104007,"name":"Congenital enteropathy involving intestinal mucosa development","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":717865,"name":"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"EPCAM","name":"epithelial cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18572020[PMID]","hgnc":"11529","ensembl":"ENSG00000119888","omim":"185535","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"Dr Julie Salomon[EXPERT]_Dr Olivier Goulet[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17448233[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-02","source":"33029133[PMID]_33374714[PMID]_30461124[PMID]","terms":[{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025129","label":"Abnormal small intestinal mucosa morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032486","label":"Elevated fecal osmolality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005208","label":"Secretory diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025090","label":"Abnormal large intestinal mucosa morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011859","label":"Punctate keratitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}