Details of Disease

General Information of Disease (ID: DIS5J79C)

Disease Name Nephrolithiasis, calcium oxalate
Disease Hierarchy
DISNCQLA: Inherited kidney disorder
:
DIS5J79C: Nephrolithiasis, calcium oxalate
Disease Identifiers
MONDO ID
MONDO_0957318
UMLS CUI
C1833683
MedGen ID
318935
HPO ID
HP:0008672
SNOMED CT ID
444717006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AHSG TTKF4WV Strong Genetic Variation [1]
F2 TT6L509 Strong Biomarker [2]
FN1 TTPJ921 Strong Genetic Variation [3]
HAO1 TTS58YO Strong Genetic Variation [1]
GGCX TT76OLR Definitive Altered Expression [4]
SLC22A12 TTA592U Definitive Genetic Variation [5]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A1 DTJ785O Strong Biomarker [6]
SLC26A6 DTVGOLN Definitive Genetic Variation [7]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMBP OTLU8GU8 Limited Biomarker [8]
PAQR6 OTEX44Z2 Limited Genetic Variation [1]
HOGA1 OT7XETW4 Strong Altered Expression [9]
CHD1 OT9R9G0H Definitive Genetic Variation [10]
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References

1 A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.BMC Med Genet. 2014 May 2;15:50. doi: 10.1186/1471-2350-15-50.
2 Renal prothrombin mRNA is significantly decreased in a hyperoxaluric rat model of nephrolithiasis.J Pathol. 2006 Nov;210(3):273-81. doi: 10.1002/path.2061.
3 A HindIII polymorphism of fibronectin gene is associated with nephrolithiasis.Urology. 2009 Nov;74(5):1004-7. doi: 10.1016/j.urology.2009.05.010. Epub 2009 Jul 17.
4 Activity and expression of vitamin K-dependent gamma-glutamyl carboxylase in patients with calcium oxalate urolithiasis.Urol Int. 2010;85(1):94-9. doi: 10.1159/000300570. Epub 2010 Mar 20.
5 Hereditary renal hypouricemia: a cause of calcium oxalate urolithiasis in a young female.Clin Nephrol. 2012 Feb;77(2):161-3. doi: 10.5414/CN106949.
6 Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 Jun 2;98(6):1228-1234.
7 Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.Am J Kidney Dis. 2008 Dec;52(6):1096-103. doi: 10.1053/j.ajkd.2008.07.041. Epub 2008 Oct 31.
8 Oxalate-inducible AMBP gene and its regulatory mechanism in renal tubular epithelial cells.Biochem J. 2005 May 1;387(Pt 3):609-16. doi: 10.1042/BJ20041465.
9 Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95. doi: 10.2215/CJN.02760311.
10 E-cadherin gene 3'-UTR C/T polymorphism in Turkish patients with nephrolithiasis.Mol Biol Rep. 2011 Nov;38(8):4931-4. doi: 10.1007/s11033-010-0635-8. Epub 2010 Dec 14.