Details of Disease

General Information of Disease (ID: DISL3ZQP)

Disease Name Congenital diarrhea 6
Synonyms
DIAR6; diarrhea 6; diarrhoea 6; congenital diarrhea type 6; GUCY2C congenital diarrhoea; chronic diarrhoea due to guanylate cyclase 2C overactivity; diarrhoea type 6; GUCY2C congenital diarrhea; congenital diarrhoea caused by mutation in GUCY2C; congenital diarrhea caused by mutation in GUCY2C; chronic diarrhea due to guanylate cyclase 2C overactivity; congenital diarrhoea type 6; diarrhea type 6
Definition Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.
Disease Hierarchy
DISBI73X: Intestinal motility disease
DIS5BJ7B: Congenital diarrhea
DISL3ZQP: Congenital diarrhea 6
Disease Identifiers
MONDO ID
MONDO_0013825
UMLS CUI
C3553270
OMIM ID
614616
MedGen ID
766184
Orphanet ID
314373

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GUCY2C TTLDPRG Limited Biomarker [1]
GUCY2C TTLDPRG Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GUCY2C OTHYISW6 Definitive Autosomal dominant [2]
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References

1 Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C. Gut. 2016 Aug;65(8):1306-13. doi: 10.1136/gutjnl-2015-309441. Epub 2015 May 20.
2 Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med. 2012 Apr 26;366(17):1586-95. doi: 10.1056/NEJMoa1110132. Epub 2012 Mar 21.