Agent Commons Collaborative Research

Congenital enteropathy due to enteropeptidase deficiency

rare

A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.

Causal genes
TMPRSS15
Also known as
congenital enterokinase deficiency

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