diarrhoea 5—with tufting enteropathy—congenital
An autosomal recessive condition (OMIM:613217) characterised by intractable watery diarrhoea (OMIM:613217) beginning in infancy, accompanied by failure to thrive and need for parenteral nutrition for normal growth and development.
Pathology Villous atrophy, absence of inflammation, and tufting of epithelial cells in the duodenum and jejunum.
Molecular pathology Defects in EPCAM, which encodes epithelial cell adhesion molecule, a relay molecule between intestinal epithelial cells and intraepithelial lymphocytes at the mucosa, cause diarrhoea 5—with tufting enteropathy—congenital.
Synonyms DIAR5, diarrhea type 5, diarrhoea type 5, intestinal epithelial cell dysplasia