Details of Disease

General Information of Disease (ID: DISDXE72)

Disease Name Congenital sodium diarrhea
Synonyms Na-H exchange deficiency
Definition Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
Disease Hierarchy
DIS5BJ7B: Congenital diarrhea
DISDXE72: Congenital sodium diarrhea
Disease Identifiers
MONDO ID
MONDO_0015170
UMLS CUI
C0267663
MedGen ID
78632
Orphanet ID
103908
SNOMED CT ID
18805001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GUCY2C TTLDPRG Supportive Autosomal dominant [1]
GUCY2C TTLDPRG Strong GermlineCausalMutation [1]
NPR3 TTWVLS6 Strong Genetic Variation [1]
SLC9A3 TTFZVPO Strong Genetic Variation [2]
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This Disease Is Related to 4 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC9A3 DTSUEIO Supportive Autosomal dominant [3]
SLC9A2 DTV8JXE Strong Genetic Variation [4]
SLC9A5 DTI6LSR Strong Genetic Variation [4]
SLC9A8 DTNY0C2 Strong Biomarker [5]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPINT2 OTQV7BKQ Limited Genetic Variation [6]
GUCY2C OTHYISW6 Supportive Autosomal dominant [1]
SLC9A3 OTZ7PFVT Supportive Autosomal dominant [3]
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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 Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.Eur J Med Genet. 2019 Oct;62(10):103712. doi: 10.1016/j.ejmg.2019.103712. Epub 2019 Jul 2.
3 Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10.
4 Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.Gastroenterology. 2000 Dec;119(6):1506-13. doi: 10.1053/gast.2000.20514.
5 Nucleotide sequence of the Na+/H+ exchanger-8 in patients with congenital sodium diarrhea.J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):474-7. doi: 10.1097/MPG.0b013e318227ad6e.
6 Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).Am J Med Genet A. 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637.