Congenital diarrhea 5 with tufting enteropathy
Congenital diarrhea 5 with tufting enteropathy
Definition
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
Also known as congenital diarrhea 5 with tufting enteropathy, congenital tufting enteropathy, DIAR5, EPCAM secretory diarrhea, EPCAM secretory diarrhoea, IED, intestinal epithelial dysplasia, secretory diarrhea caused by mutation in EPCAM, secretory diarrhoea caused by mutation in EPCAM, tufting enteropathy — per MONDO