KEGG   DISEASE: Vesicoureteral reflux
Entry
H01037                      Disease                                
Name
Vesicoureteral reflux
Description
Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent urinary tract infection, pyelonephritis, and renal scarring.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Renal tubulo-interstitial diseases
    GB56  Obstructive or reflux nephropathy
     H01037  Vesicoureteral reflux
Pathway
hsa04512  ECM-receptor interaction
hsa04360  Axon guidance
hsa04310  Wnt signaling pathway
hsa04151  PI3K-Akt signaling pathway
Gene
(VUR2) ROBO2 [HSA:6092] [KO:K06754]
(VUR3) SOX17 [HSA:64321] [KO:K04495]
(VUR8) TNXB [HSA:7148] [KO:K06252]
Other DBs
ICD-11: GB56.5
MeSH: D014718
OMIM: 610878 613674 615963
Reference
  Authors
Routh JC, Bogaert GA, Kaefer M, Manzoni G, Park JM, Retik AB, Rushton HG, Snodgrass WT, Wilcox DT
  Title
Vesicoureteral reflux: current trends in diagnosis, screening, and treatment.
  Journal
Eur Urol 61:773-82 (2012)
DOI:10.1016/j.eururo.2012.01.002
Reference
  Authors
Puri P, Gosemann JH, Darlow J, Barton DE
  Title
Genetics of vesicoureteral reflux.
  Journal
Nat Rev Urol 8:539-52 (2011)
DOI:10.1038/nrurol.2011.113
Reference
  Authors
Carvas F, Silva A, Nguyen HT
  Title
The genetics of primary, nonsyndromic vesicoureteral reflux.
  Journal
Curr Opin Urol 20:336-42 (2010)
DOI:10.1097/MOU.0b013e328339b739
Reference
PMID:17357069 (ROBO2)
  Authors
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL
  Title
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
  Journal
Am J Hum Genet 80:616-32 (2007)
DOI:10.1086/512735
Reference
PMID:20960469 (SOX17)
  Authors
Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM
  Title
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
  Journal
Hum Mutat 31:1352-9 (2010)
DOI:10.1002/humu.21378
Reference
PMID:23620400 (TNXB)
  Authors
Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP
  Title
TNXB mutations can cause vesicoureteral reflux.
  Journal
J Am Soc Nephrol 24:1313-22 (2013)
DOI:10.1681/ASN.2012121148
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