Details of Disease

General Information of Disease (ID: DIS4DK4B)

Disease Name Congenital secretory chloride diarrhea 1
Synonyms
chloride diarrhea, congenital, Finnish type; familial chloride diarrhoea; diarrhea 1, secretory chloride, congenital; congenital chloride diarrhoea; Darrow-gamble disease; congenital chloride diarrhea; CLD; DIAR1; familial chloride diarrhea; Chloridorrhea, congenital; diarrhoea 1, secretory chloride, congenital; secretory diarrhea caused by mutation in SLC26A3; congenital chloride diarrhea Finnish type; secretory diarrhoea caused by mutation in SLC26A3; SLC26A3 secretory diarrhoea; congenital chloridorrhea; SLC26A3 secretory diarrhea; congenital secretory chloride diarrhea type 1; congenital chloride diarrhoea Finnish type; congenital secretory chloride diarrhoea type 1
Definition Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.
Disease Hierarchy
DISBX8WG: Secretory diarrhea
DISYK1KE: Congenital secretory diarrhea
DIS4DK4B: Congenital secretory chloride diarrhea 1
Disease Identifiers
MONDO ID
MONDO_0008964
MESH ID
C536210
UMLS CUI
C0267662
OMIM ID
214700
MedGen ID
78631
Orphanet ID
53689
SNOMED CT ID
24412005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A5 DTPGHJ7 Strong Biomarker [1]
SLC26A3 DTN1FMD Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC26A3 OTBNK2U2 Definitive Autosomal recessive [2]
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References

1 Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.Genomics. 2001 Feb 15;72(1):43-50. doi: 10.1006/geno.2000.6445.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.