Details of Disease

General Information of Disease (ID: DISNFTKT)

• Disease Name: Urolithiasis
• Synonyms: kidney stone; urinary stones; urolithiasis; calculus
• Disease Class: GB7Z: Urolithiasis
• Definition: Stone(s) within the urinary tract.
• Disease Hierarchy:
  DIS0HU8N: Urinary tract disease
  DISNFTKT: Urolithiasis
• ICD Code:
  ICD-11: ICD-11: GB7Z
  Expand ICD-11: 'GB7Z
  Expand ICD-10: 'N20-N23; 'N22; 'N22.8
• Disease Identifiers:
  MONDO ID: MONDO_0024647
  MESH ID: D052878
  UMLS CUI: C0451641
  MedGen ID: 141536
  HPO ID: HP:0034368
  SNOMED CT ID: 95566004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Hemiacidrin	DMRI30R	Approved	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FTO	TTFW3BT	Limited	Genetic Variation	[2]
PKN1	TTSL41O	Limited	Genetic Variation	[2]
PTH	TT6F7GZ	moderate	Biomarker	[3]
AGXT	TTF5NVW	Strong	Biomarker	[4]
GGCX	TT76OLR	Strong	Biomarker	[5]
SLC22A12	TTA592U	Strong	Genetic Variation	[6]

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A1	DTJ785O	Limited	Biomarker	[7]
SLC26A6	DTVGOLN	Strong	Biomarker	[8]
SLC34A1	DT42EWA	Strong	Biomarker	[9]
SLC3A1	DTBCKVM	Strong	Genetic Variation	[10]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
APRT	DE2MV1R	Strong	Biomarker	[11]
LPO	DEHX1DZ	Strong	Altered Expression	[12]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCAS3	OTDVAX6B	Limited	Genetic Variation	[2]
CLDN14	OTS7GKOI	Limited	Genetic Variation	[2]
GCKR	OTSIWXGG	Limited	Genetic Variation	[2]
MINDY4	OTBZ2SZB	Limited	Genetic Variation	[2]
PDILT	OT5D60QU	Limited	Genetic Variation	[2]
TFAP2B	OTR1T8E9	Limited	Genetic Variation	[2]
DGKH	OTYNPJ4B	moderate	Genetic Variation	[2]
EPB41L2	OT6UABPM	moderate	Genetic Variation	[2]
RGS14	OTYN79AG	moderate	Genetic Variation	[2]
ARL5B	OTYYBIDG	Strong	Biomarker	[13]
FBL	OTRODIE5	Strong	Biomarker	[14]
NBAS	OTW9IBRI	Strong	Biomarker	[15]
SCN7A	OTK05PXY	Strong	Biomarker	[15]
TRPV5	OTWF4L0U	Strong	Genetic Variation	[16]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [2] Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.J Am Soc Nephrol. 2019 May;30(5):855-864. doi: 10.1681/ASN.2018090942. Epub 2019 Apr 11.
• [3] Vitamin D and Calcium Homeostasis in Infants with Urolithiasis.Adv Exp Med Biol. 2019;1133:75-81. doi: 10.1007/5584_2018_310.
• [4] Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.Biochem Biophys Res Commun. 2019 Oct 1;517(4):677-683. doi: 10.1016/j.bbrc.2019.07.109. Epub 2019 Aug 8.
• [5] Enhanced renal vitamin-K-dependent gamma-glutamyl carboxylase activity in experimental rat urolithiasis.Eur Urol. 1998;33(1):116-20. doi: 10.1159/000019523.
• [6] Rapid detection of R90H mutations in the human urate transporter 1 gene.Ann Clin Biochem. 2007 Mar;44(Pt 2):189-91. doi: 10.1258/000456307780118028.
• [7] Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice.J Clin Invest. 2010 Mar;120(3):706-12. doi: 10.1172/JCI31474. Epub 2010 Feb 15.
• [8] High expression of SLC26A6 in the kidney may contribute to renal calcification via an SLC26A6-dependent mechanism.PeerJ. 2018 Jul 3;6:e5192. doi: 10.7717/peerj.5192. eCollection 2018.
• [9] Pathophysiology-based treatment of urolithiasis.Int J Urol. 2017 Jan;24(1):32-38. doi: 10.1111/iju.13187. Epub 2016 Aug 18.
• [10] Analysis of a 1-year-old cystinuric patient with recurrent renal stones.Int J Urol. 2006 Oct;13(10):1347-9. doi: 10.1111/j.1442-2042.2006.01550.x.
• [11] A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.Acta Paediatr. 2011 Dec;100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. Epub 2011 Jun 17.
• [12] Antiurolithiatic Effect of Sirupeelai Samoola Kudineer: A Polyherbal Siddha Decoction on Ethylene Glycol-induced Renal Calculus in Experimental Rats.Pharmacogn Mag. 2017 Jul;13(Suppl 2):S273-S279. doi: 10.4103/pm.pm_454_16. Epub 2017 Jul 11.
• [13] Changing expression profiles of long non-coding RNAs, mRNAs and circular RNAs in ethylene glycol-induced kidney calculi rats.BMC Genomics. 2018 Sep 10;19(1):660. doi: 10.1186/s12864-018-5052-8.
• [14] The association between a non-invasive hepatic fibrosis score and urolithiasis among non-alcoholic fatty liver disease (NAFLD) patients in China: a cross-sectional study.BMJ Open. 2019 Aug 30;9(8):e027702. doi: 10.1136/bmjopen-2018-027702.
• [15] Urinary biomarkers in the early detection and follow-up of tubular injury in childhood urolithiasis.Clin Exp Nephrol. 2018 Feb;22(1):133-141. doi: 10.1007/s10157-017-1436-3. Epub 2017 Jun 26.
• [16] Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.World J Urol. 2020 May;38(5):1311-1322. doi: 10.1007/s00345-019-02911-7. Epub 2019 Aug 19.