Details of Disease

Disease Name

Vesicoureteral reflux

vesico-ureteral reflux; vesicoureteral reflux; vesicoureteral reflux (disease)

Definition

Abnormal flow of urine from the urinary bladder back into the ureters.

Disease Hierarchy

DISTVIQI: Bladder disease

:

DISUL6SA: Vesicoureteral reflux

Disease Identifiers

MONDO ID

MONDO_0006007

MESH ID

D014718

UMLS CUI

C0042580

MedGen ID

21852

HPO ID

HP:0000076

SNOMED CT ID

197811007

General Information of Disease (ID: DISUL6SA)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HAAO	TTWON83	Strong	CausalMutation	[1]
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This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAX2	OTKP1N8F	Limited	Genetic Variation	[2]
ROBO2	OTFJ9FQW	Limited	Genetic Variation	[3]
SOX17	OT9H4WWE	moderate	Genetic Variation	[4]
TNXB	OTVBWAV5	moderate	Genetic Variation	[5]
AMBP	OTLU8GU8	Strong	Genetic Variation	[6]
ANOS1	OTZJT4KN	Strong	Genetic Variation	[7]
ARID1B	OTILK3Q7	Strong	CausalMutation	[8]
CHD7	OTHNIZWZ	Strong	Genetic Variation	[9]
EEF1A2	OT9Z23K5	Strong	CausalMutation	[10]
EMX2	OT0V8OYK	Strong	Biomarker	[11]
EYA1	OTHU807A	Strong	CausalMutation	[12]
GFRA1	OT3WBVYB	Strong	Biomarker	[13]
GNB3	OTA6HYBA	Strong	Genetic Variation	[14]
OSR1	OTB19LEQ	Strong	Biomarker	[15]
PRKN	OTJBN41W	Strong	Genetic Variation	[16]
SERPINA4	OTBK0GG7	Strong	Genetic Variation	[7]
SIX2	OTYOVGSC	Strong	Altered Expression	[17]
GEN1	OT1XFQXF	Definitive	Genetic Variation	[18]
LMX1B	OTM8145D	Definitive	Genetic Variation	[2]
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⏷ Show the Full List of 19 DOT(s)

References

1	NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
2	Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?.Eur J Hum Genet. 2018 Nov;26(11):1708-1712. doi: 10.1038/s41431-018-0213-4. Epub 2018 Jul 4.
3	ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.Pediatr Res. 2016 Jul;80(1):72-6. doi: 10.1038/pr.2016.51. Epub 2016 Mar 22.
4	Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum Mutat. 2010 Dec;31(12):1352-9. doi: 10.1002/humu.21378. Epub 2010 Nov 9.
5	TNXB mutations can cause vesicoureteral reflux. J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25.
6	Risk factors for community acquired urinary tract infections caused by extended spectrum -lactamase (ESBL) producing Escherichia coli in children: a case control study.Infect Dis (Lond). 2019 Nov-Dec;51(11-12):802-809. doi: 10.1080/23744235.2019.1654127. Epub 2019 Aug 20.
7	Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene.Hum Mutat. 1998;11(4):340-2.
8	Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.
9	The CHARGE association and athyreosis.J Med Genet. 1991 Mar;28(3):207-8. doi: 10.1136/jmg.28.3.207.
10	Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
11	Vesicoureteral reflux and other urinary tract malformations in mice compound heterozygous for Pax2 and Emx2.PLoS One. 2011;6(6):e21529. doi: 10.1371/journal.pone.0021529. Epub 2011 Jun 24.
12	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.
13	Mutational analysis of the GDNF/RET-GDNFR alpha signaling complex in a kindred with vesicoureteral reflux.Hum Genet. 1998 Apr;102(4):474-8. doi: 10.1007/s004390050724.
14	Estimation of the relationship between the polymorphisms of selected genes: ACE, AGTR1, TGF1 and GNB3 with the occurrence of primary vesicoureteral reflux.Int Urol Nephrol. 2017 Mar;49(3):387-397. doi: 10.1007/s11255-016-1483-9. Epub 2016 Dec 17.
15	Heterozygous loss-of-function mutation in Odd-skipped related 1 (Osr1) is associated with vesicoureteric reflux, duplex systems, and hydronephrosis.Am J Physiol Renal Physiol. 2017 Nov 1;313(5):F1106-F1115. doi: 10.1152/ajprenal.00107.2017. Epub 2017 Jul 19.
16	Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.Sci Rep. 2017 Nov 6;7(1):14595. doi: 10.1038/s41598-017-15062-9.
17	Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?.Eur J Med Genet. 2012 Dec;55(12):688-9. doi: 10.1016/j.ejmg.2012.06.003. Epub 2012 Jul 15.
18	Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.Int J Biol Sci. 2018 Jan 1;14(1):10-20. doi: 10.7150/ijbs.22768. eCollection 2018.