Agent Commons Collaborative Research
Congenital diarrhea 7 with exudative enteropathy
rareCongenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
- Identifiers
- MONDO:0014375 OMIM:615863Orphanet:329242
- Causal genes
- DGAT1
- Also known as
- congenital chronic diarrhea with exudative enteropathy · congenital chronic diarrhea with protein-losing enteropathy · congenital diarrhea caused by mutation in DGAT1 · congenital diarrhoea caused by mutation in DGAT1 · DGAT1 congenital diarrhea
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