VUR2
MCID: VSC020
MIFTS: 25

Vesicoureteral Reflux 2 (VUR2)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Vesicoureteral Reflux 2

MalaCards integrated aliases for Vesicoureteral Reflux 2:

Name: Vesicoureteral Reflux 2 56 73 29 13 6 71
Vur2 56 73
Reflux, Vesicoureteral, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
vesicoureteral reflux 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 610878
OMIM Phenotypic Series 56 PS193000
MeSH 43 D014718
MedGen 41 C1970483
SNOMED-CT via HPO 68 197811007 263681008 32659003
UMLS 71 C1970483

Summaries for Vesicoureteral Reflux 2

UniProtKB/Swiss-Prot : 73 Vesicoureteral reflux 2: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.

MalaCards based summary : Vesicoureteral Reflux 2, also known as vur2, is related to vesicoureteral reflux 1. An important gene associated with Vesicoureteral Reflux 2 is ROBO2 (Roundabout Guidance Receptor 2). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and renal hypoplasia

More information from OMIM: 610878 PS193000

Related Diseases for Vesicoureteral Reflux 2

Diseases in the Familial Vesicoureteral Reflux family:

Vesicoureteral Reflux 1 Vesicoureteral Reflux 2
Vesicoureteral Reflux 3 Vesicoureteral Reflux 4
Vesicoureteral Reflux 5 Vesicoureteral Reflux 6
Vesicoureteral Reflux 7 Vesicoureteral Reflux 8

Diseases related to Vesicoureteral Reflux 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vesicoureteral reflux 1 10.1

Symptoms & Phenotypes for Vesicoureteral Reflux 2

Human phenotypes related to Vesicoureteral Reflux 2:

31
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 HP:0000076
2 renal hypoplasia 31 HP:0000089

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
nephropathy
hypoplastic kidneys
duplex renal system
cakut

Genitourinary Bladder:
vesicoureteral reflux

Clinical features from OMIM:

610878

Drugs & Therapeutics for Vesicoureteral Reflux 2

Search Clinical Trials , NIH Clinical Center for Vesicoureteral Reflux 2

Genetic Tests for Vesicoureteral Reflux 2

Genetic tests related to Vesicoureteral Reflux 2:

# Genetic test Affiliating Genes
1 Vesicoureteral Reflux 2 29 ROBO2

Anatomical Context for Vesicoureteral Reflux 2

MalaCards organs/tissues related to Vesicoureteral Reflux 2:

40
Kidney

Publications for Vesicoureteral Reflux 2

Articles related to Vesicoureteral Reflux 2:

(show all 13)
# Title Authors PMID Year
1
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. 56 6
17357069 2007
2
The Spectrum of Histopathological Changes in the Renal Allograft - a 12 Months Protocol Biopsy Study. 61
29731924 2018
3
Estimation of the relationship between the polymorphisms of selected genes: ACE, AGTR1, TGFβ1 and GNB3 with the occurrence of primary vesicoureteral reflux. 61
27988909 2017
4
Wrap plication of megaureter around normal-sized ureter for complete duplex system reimplantations. 61
23174243 2013
5
Initial experience with laparoscopic ipsilateral ureteroureterostomy in infants and children for duplication anomalies of the urinary tract. 61
17509348 2007
6
The cost-effectiveness of dextranomer/hyaluronic acid copolymer for the management of vesicoureteral reflux. 2. Reflux correction at the time of diagnosis as a substitute for traditional management. 61
17085183 2006
7
Endoscopic management of vesicoureteral reflux in women presenting with pyelonephritis. 61
17070296 2006
8
Complications of 2735 retrograde semirigid ureteroscopy procedures: a single-center experience. 61
16548724 2006
9
Extravesical diverticuloplasty for repair of a paraureteral diverticulum and the associated refluxing ureter. 61
12187254 2002
10
[Scientific evidence in the endoscopic treatment of the vesico-ureteral reflux]. 61
12601987 2002
11
[Reflux nephropathy within first year of life. Studies of its clinical features and kidney scar-formation according to treatment modalities]. 61
8022135 1994
12
Analysis of solid renal dysplasia by flow cytometry: malignant potential? 61
8517001 1993
13
Acute pancreatitis in six non-transplanted uraemic children. A co-operative study from the French Society of Paediatric Nephrology. 61
2484654 1988

Variations for Vesicoureteral Reflux 2

ClinVar genetic disease variations for Vesicoureteral Reflux 2:

6 (show top 50) (show all 160) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROBO2 NM_001128929.3(ROBO2):c.2882T>C (p.Ile961Thr)SNV Pathogenic 7103 rs267607014 3:77645881-77645881 3:77596730-77596730
2 ROBO2 NM_001128929.3(ROBO2):c.3754G>A (p.Ala1252Thr)SNV Pathogenic 7104 rs267607015 3:77671529-77671529 3:77622378-77622378
3 ROBO2 NM_001128929.3(ROBO2):c.2479C>T (p.Arg827Trp)SNV Conflicting interpretations of pathogenicity 224345 rs188582283 3:77629200-77629200 3:77580049-77580049
4 ROBO2 NM_001128929.3(ROBO2):c.3905G>T (p.Arg1302Leu)SNV Conflicting interpretations of pathogenicity 346711 rs200131009 3:77684117-77684117 3:77634966-77634966
5 ROBO2 NM_001128929.3(ROBO2):c.4112G>A (p.Arg1371His)SNV Uncertain significance 346715 rs771581041 3:77693984-77693984 3:77644833-77644833
6 ROBO2 NM_001128929.3(ROBO2):c.*947C>TSNV Uncertain significance 346722 rs550745516 3:77696153-77696153 3:77647002-77647002
7 ROBO2 NM_001128929.3(ROBO2):c.*972T>CSNV Uncertain significance 346723 rs886058879 3:77696178-77696178 3:77647027-77647027
8 ROBO2 NM_001128929.3(ROBO2):c.*985C>TSNV Uncertain significance 346725 rs114687906 3:77696191-77696191 3:77647040-77647040
9 ROBO2 NM_001128929.3(ROBO2):c.2055A>C (p.Arg685=)SNV Uncertain significance 346695 rs886058877 3:77623685-77623685 3:77574534-77574534
10 ROBO2 NM_001128929.3(ROBO2):c.3184+2T>CSNV Uncertain significance 225456 rs868180675 3:77651644-77651644 3:77602493-77602493
11 ROBO2 NM_001128929.3(ROBO2):c.97G>T (p.Gly33Ter)SNV Uncertain significance 224347 rs747011633 3:75986741-75986741 3:75937590-75937590
12 ROBO2 NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)SNV Uncertain significance 224346 rs780623744 3:77147438-77147438 3:77098287-77098287
13 ROBO2 NM_001128929.3(ROBO2):c.*2679G>ASNV Uncertain significance 903508 3:77697885-77697885 3:77648734-77648734
14 ROBO2 NM_001128929.3(ROBO2):c.*2921C>TSNV Uncertain significance 899907 3:77698127-77698127 3:77648976-77648976
15 ROBO2 NM_001128929.3(ROBO2):c.*3363T>GSNV Uncertain significance 901082 3:77698569-77698569 3:77649418-77649418
16 ROBO2 NM_001128929.3(ROBO2):c.*3516T>CSNV Uncertain significance 901083 3:77698722-77698722 3:77649571-77649571
17 ROBO2 NM_001128929.3(ROBO2):c.*3594T>ASNV Uncertain significance 901629 3:77698800-77698800 3:77649649-77649649
18 ROBO2 NM_001128929.3(ROBO2):c.*3707G>ASNV Uncertain significance 901630 3:77698913-77698913 3:77649762-77649762
19 ROBO2 NM_001128929.3(ROBO2):c.*3804T>CSNV Uncertain significance 901631 3:77699010-77699010 3:77649859-77649859
20 ROBO2 NM_001128929.3(ROBO2):c.266C>G (p.Thr89Ser)SNV Uncertain significance 899661 3:77147321-77147321 3:77098170-77098170
21 ROBO2 NM_001128929.3(ROBO2):c.387G>T (p.Arg129Ser)SNV Uncertain significance 900807 3:77147442-77147442 3:77098291-77098291
22 ROBO2 NM_001128929.3(ROBO2):c.420G>A (p.Ala140=)SNV Uncertain significance 900808 3:77147475-77147475 3:77098324-77098324
23 ROBO2 NM_001128929.3(ROBO2):c.515C>T (p.Pro172Leu)SNV Uncertain significance 900809 3:77526643-77526643 3:77477492-77477492
24 ROBO2 NM_001128929.3(ROBO2):c.676G>A (p.Gly226Arg)SNV Uncertain significance 900810 3:77530331-77530331 3:77481180-77481180
25 ROBO2 NM_001128929.3(ROBO2):c.823A>G (p.Lys275Glu)SNV Uncertain significance 902477 3:77542502-77542502 3:77493351-77493351
26 ROBO2 NM_001128929.3(ROBO2):c.1311A>G (p.Leu437=)SNV Uncertain significance 902478 3:77607126-77607126 3:77557975-77557975
27 ROBO2 NM_001128929.3(ROBO2):c.1313A>G (p.Gln438Arg)SNV Uncertain significance 902479 3:77607128-77607128 3:77557977-77557977
28 ROBO2 NM_001128929.3(ROBO2):c.1470G>A (p.Gln490=)SNV Uncertain significance 903340 3:77607285-77607285 3:77558134-77558134
29 ROBO2 NM_001128929.3(ROBO2):c.1695C>G (p.Thr565=)SNV Uncertain significance 903341 3:77612445-77612445 3:77563294-77563294
30 ROBO2 NM_001128929.3(ROBO2):c.1702G>A (p.Ala568Thr)SNV Uncertain significance 903342 3:77612452-77612452 3:77563301-77563301
31 ROBO2 NM_001128929.3(ROBO2):c.2060T>C (p.Met687Thr)SNV Uncertain significance 900884 3:77623690-77623690 3:77574539-77574539
32 ROBO2 NM_001128929.3(ROBO2):c.2092T>C (p.Ser698Pro)SNV Uncertain significance 900885 3:77623722-77623722 3:77574571-77574571
33 ROBO2 NM_001128929.3(ROBO2):c.2236C>T (p.Arg746Cys)SNV Uncertain significance 900887 3:77623866-77623866 3:77574715-77574715
34 ROBO2 NM_001128929.3(ROBO2):c.3333A>G (p.Gln1111=)SNV Uncertain significance 903406 3:77657097-77657097 3:77607946-77607946
35 ROBO2 NM_001128929.3(ROBO2):c.4025C>G (p.Pro1342Arg)SNV Uncertain significance 899791 3:77693897-77693897 3:77644746-77644746
36 ROBO2 NM_001128929.3(ROBO2):c.*178C>GSNV Uncertain significance 900956 3:77695384-77695384 3:77646233-77646233
37 ROBO2 NM_001128929.3(ROBO2):c.*850A>GSNV Uncertain significance 902610 3:77696056-77696056 3:77646905-77646905
38 ROBO2 NM_001128929.3(ROBO2):c.*913A>GSNV Uncertain significance 902611 3:77696119-77696119 3:77646968-77646968
39 ROBO2 NM_001128929.3(ROBO2):c.*1488T>GSNV Uncertain significance 899845 3:77696694-77696694 3:77647543-77647543
40 ROBO2 NM_001128929.3(ROBO2):c.*1890G>ASNV Uncertain significance 901019 3:77697096-77697096 3:77647945-77647945
41 ROBO2 NM_001128929.3(ROBO2):c.*2591G>TSNV Uncertain significance 901576 3:77697797-77697797 3:77648646-77648646
42 ROBO2 NM_001128929.3(ROBO2):c.*1950T>GSNV Uncertain significance 346743 rs543178648 3:77697156-77697156 3:77648005-77648005
43 ROBO2 NM_001128929.3(ROBO2):c.*2195C>TSNV Uncertain significance 346747 rs372439657 3:77697401-77697401 3:77648250-77648250
44 ROBO2 NM_001128929.3(ROBO2):c.*3894A>GSNV Uncertain significance 346773 rs886058897 3:77699100-77699100 3:77649949-77649949
45 ROBO2 NM_001128929.3(ROBO2):c.110-57710C>TSNV Uncertain significance 346668 rs886058874 3:77089455-77089455 3:77040304-77040304
46 ROBO2 NM_001128929.3(ROBO2):c.*3313T>CSNV Uncertain significance 346766 rs538973204 3:77698519-77698519 3:77649368-77649368
47 ROBO2 NM_001128929.3(ROBO2):c.1881T>C (p.Asp627=)SNV Uncertain significance 346690 rs757943652 3:77614255-77614255 3:77565104-77565104
48 ROBO2 NM_001128929.3(ROBO2):c.*166T>CSNV Uncertain significance 346718 rs886058878 3:77695372-77695372 3:77646221-77646221
49 ROBO2 NM_001128929.3(ROBO2):c.*1075T>CSNV Uncertain significance 346730 rs886058881 3:77696281-77696281 3:77647130-77647130
50 ROBO2 NM_001128929.3(ROBO2):c.*1435C>ASNV Uncertain significance 346735 rs886058882 3:77696641-77696641 3:77647490-77647490

UniProtKB/Swiss-Prot genetic disease variations for Vesicoureteral Reflux 2:

73
# Symbol AA change Variation ID SNP ID
1 ROBO2 p.Ile945Thr VAR_032960 rs267607014
2 ROBO2 p.Ala1236Thr VAR_032961 rs267607015

Expression for Vesicoureteral Reflux 2

Search GEO for disease gene expression data for Vesicoureteral Reflux 2.

Pathways for Vesicoureteral Reflux 2

GO Terms for Vesicoureteral Reflux 2

Sources for Vesicoureteral Reflux 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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