Details of Disease

General Information of Disease (ID: DISSYAAF)

• Disease Name: Congenital malabsorptive diarrhea 4
• Synonyms: DIAR4; diarrhea 4, malabsorptive, congenital; diarrhoea 4, malabsorptive, congenital; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital diarrhoea caused by mutation in NEUROG3; NEUROG3 congenital diarrhea; congenital malabsorptive diarrhoea type 4; congenital diarrhea caused by mutation in NEUROG3; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhea type 4; enteric anendocrinosis; NEUROG3 congenital diarrhoea
• Definition: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.
• Disease Hierarchy:
  DIS5BJ7B: Congenital diarrhea
  DISSYAAF: Congenital malabsorptive diarrhea 4
• Disease Identifiers:
  MONDO ID: MONDO_0012479
  MESH ID: C563673
  UMLS CUI: C1835888
  OMIM ID: 610370
  MedGen ID: 372151
  Orphanet ID: 83620
  SNOMED CT ID: 722392003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEUROG3	OT6DIPWC	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.