Details of Disease

General Information of Disease (ID: DISAF31B)

• Disease Name: Congenital secretory sodium diarrhea 3
• Synonyms: diarrhoea 3, secretory sodium, congenital, with or without other congenital anomalies; sodium diarrhea, congenital; DIAR3; diarrhoea 3, secretory sodium, congenital, syndromic; diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies; diarrhea 3, secretory sodium, congenital, syndromic; secretory diarrhoea caused by mutation in SPINT2; congenital secretory sodium diarrhea 3 with or without other congenital anomalies; secretory diarrhea caused by mutation in SPINT2; SPINT2 secretory diarrhoea; SPINT2 secretory diarrhea; congenital secretory sodium diarrhoea type 3; congenital secretory sodium diarrhea type 3; congenital secretory sodium diarrhea 3 syndromic; congenital secretory sodium diarrhoea 3 with or without other congenital anomalies; congenital secretory sodium diarrhoea 3 syndromic
• Definition: Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.
• Disease Hierarchy:
  DISDXE72: Congenital sodium diarrhea
  DISBX8WG: Secretory diarrhea
  DISYK1KE: Congenital secretory diarrhea
  DISAF31B: Congenital secretory sodium diarrhea 3
• Disease Identifiers:
  MONDO ID: MONDO_0010036
  MESH ID: C562576
  UMLS CUI: C5441927
  OMIM ID: 270420
  MedGen ID: 1778108

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
SPINT2	OTQV7BKQ	Strong	Autosomal recessive	[1]

References

• [1] Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.