Congenital Tufting Enteropathy
Congenital Tufting Enteropathy
About the Disease
Diarrhea 5, with Tufting Enteropathy, Congenital, also known as congenital diarrhea 5 with tufting enteropathy, is related to diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies and intestinal atresia, and has symptoms including infantile diarrhea An important gene associated with Diarrhea 5, with Tufting Enteropathy, Congenital is EPCAM (Epithelial Cell Adhesion Molecule), and among its related pathways/superpathways is CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). The drugs Fluorouracil and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include small intestine, brain and liver, and related phenotypes are failure to thrive and chronic diarrhea
Common Targets
SPINT2 | EPCAM | AP1S1 | WNT2B | GLP2R | GLP1R

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