Last update 08 May 2025

Diarrhea 5, With Tufting Enteropathy, Congenital

Basic Info

Synonyms
CTE, DIAR5, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
+ [8]
Introduction
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.

Analysis

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