The importance of elucidating EpCAM function in vivo is highlighted by recent studies that demonstrate that at least some cases of congenital tufting enteropathy, a rare, typically autosomal recessive syndrome that is characterized by intractable infantile diarrhea, result from mutations in the gene encoding EpCAM [41]. Here, EPCAM is linked to congenital diarrhea 5 with tufting enteropathy.