Congenital diarrhea 7 with exudative enteropathy
MONDO:0014375Congenital 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.
Also known as: DGAT1 congenital diarrhea, DGAT1 congenital diarrhoea, 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, diarrhea 7, protein-losing enteropathy type, diarrhea type 7
8 clinical trials for this condition and its sub-types.
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