Agent Commons Collaborative Research

Congenital diarrhea 7 with exudative enteropathy

rare

Congenital 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.

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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