Details of Disease | DrugMAP

General Information of Disease (ID: DIS1C6JF)

Disease Name	Congenital secretory sodium diarrhea 8
Synonyms	diarrhea, congenital sodium; congenital secretory sodium diarrhea type 8; DIAR8; SLC9A3 secretory diarrhea; secretory diarrhea caused by mutation in SLC9A3; diarrhoea 8, secretory sodium, congenital; secretory diarrhoea caused by mutation in SLC9A3; congenital secretory sodium diarrhoea type 8; diarrhea 8, secretory sodium, congenital; SLC9A3 secretory diarrhoea
Definition	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.
Disease Hierarchy	DISDXE72: Congenital sodium diarrhea DISBX8WG: Secretory diarrhea DISYK1KE: Congenital secretory diarrhea DIS1C6JF: Congenital secretory sodium diarrhea 8
Disease Identifiers	MONDO ID MONDO_0014808 UMLS CUI C5441928 OMIM ID 616868 MedGen ID 1783137

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC9A3	DTSUEIO	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC9A3	OTZ7PFVT	Strong	Autosomal recessive	[1]
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References

1	Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis. J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):e106-e108. doi: 10.1097/MPG.0000000000002258.