/congenital diarrhea 5 with tufting enteropathy

congenital diarrhea 5 with tufting enteropathy

Rare Disease

MONDO:0013184

Also Known As

DIAR5EPCAM secretory diarrheaEPCAM secretory diarrhoeaIEDcongenital diarrhea 5 with tufting enteropathycongenital familial intractable diarrhea with epithelial or epithelium abnormalitiescongenital familial intractable diarrhoea with epithelial or epithelium abnormalitiescongenital tufting enteropathyintestinal epithelial dysplasiasecretory diarrhea caused by mutation in EPCAMsecretory diarrhoea caused by mutation in EPCAMtufting enteropathycongenital enteropathycongenital familial intractable diarrhea with enterocytes assembly abnormalitiescongenital familial intractable diarrhoea with enterocytes assembly abnormalitiesdiarrhea 5, with tufting enteropathy, congenitaldiarrhoea 5, with tufting enteropathy, congenitalenteropathy, congenital tuftingintestinal epithelial cell dysplasia

Definition

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.