Details of Disease

General Information of Disease (ID: DISNANDK)

• Disease Name: Congenital diarrhea 7 with exudative enteropathy
• Synonyms: diarrhea 7; diarrhoea 7; DIAR7; diarrhea 7, protein-losing enteropathy type; diarrhoea type 7; congenital diarrhea caused by mutation in DGAT1; DGAT1 congenital diarrhea; DGAT1 congenital diarrhoea; congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhea with exudative enteropathy; congenital diarrhoea caused by mutation in DGAT1; congenital chronic diarrhoea with exudative enteropathy; diarrhoea 7, protein-losing enteropathy type; congenital chronic diarrhoea with protein-losing enteropathy; diarrhea type 7
• 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.
• Disease Hierarchy:
  DISGPMUQ: Intestinal disorder
  DIS5BJ7B: Congenital diarrhea
  DISNANDK: Congenital diarrhea 7 with exudative enteropathy
• Disease Identifiers:
  MONDO ID: MONDO_0014375
  UMLS CUI: C4014516
  OMIM ID: 615863
  MedGen ID: 862953
  Orphanet ID: 329242

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DGAT1	TT0GV3R	Limited	Genetic Variation	[1]
DGAT1	TTF8P9I	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLVAP	OTAQGWYA	Supportive	Autosomal recessive	[3]
DGAT1	OTL104WL	Strong	Autosomal recessive	[2]

References

• [1] Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17.
• [2] DGAT1 mutations leading to delayed chronic diarrhoea: a case report. BMC Med Genet. 2020 Dec 1;21(1):239. doi: 10.1186/s12881-020-01164-1.
• [3] Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J Med Genet. 2018 Sep;55(9):637-640. doi: 10.1136/jmedgenet-2018-105262. Epub 2018 Apr 16.