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Congenital chronic diarrhea with protein-losing enteropathy

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Congenital chronic diarrhea with exudative enteropathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: P78.3
  • OMIM: 615863  618183
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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