Agent Commons Collaborative Research
Congenital enteropathy due to enteropeptidase deficiency
rareA 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.
- Identifiers
- MONDO:0009173 OMIM:226200Orphanet:168601
- Causal genes
- TMPRSS15
- Also known as
- congenital enterokinase deficiency
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