Diarrhea 5, with Tufting Enteropathy, Congenital

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive condition caused by mutation(s) in the EPCAM gene, encoding epithelial cell adhesion molecule. It is characterized by intractable diarrhea in infancy, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.

**Synonyms:** - DIAR5 - Diarrhea-5 with Congenital Tufting Enteropathy