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 57 72 29 13 6 70
Vur2 57 72
Reflux, Vesicoureteral, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
vesicoureteral reflux 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 610878
OMIM Phenotypic Series 57 PS193000
MeSH 44 D014718
MedGen 41 C1970483
SNOMED-CT via HPO 68 197811007 263681008 32659003
UMLS 70 C1970483

Summaries for Vesicoureteral Reflux 2

UniProtKB/Swiss-Prot : 72 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 10.0

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®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
nephropathy
hypoplastic kidneys
duplex renal system
cakut

Genitourinary Bladder:
vesicoureteral reflux

Clinical features from OMIM®:

610878 (Updated 05-Apr-2021)

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. 6 57
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 163)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ROBO2 NM_001128929.3(ROBO2):c.3754G>A (p.Ala1252Thr) SNV Pathogenic 7104 rs267607015 GRCh37: 3:77671529-77671529
GRCh38: 3:77622378-77622378
2 ROBO2 NM_001128929.3(ROBO2):c.1033C>T (p.Arg345Ter) SNV Pathogenic 998248 GRCh37: 3:77595539-77595539
GRCh38: 3:77546388-77546388
3 ROBO2 NM_001128929.3(ROBO2):c.2479C>T (p.Arg827Trp) SNV Conflicting interpretations of pathogenicity 224345 rs188582283 GRCh37: 3:77629200-77629200
GRCh38: 3:77580049-77580049
4 ROBO2 NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val) SNV Uncertain significance 224346 rs780623744 GRCh37: 3:77147438-77147438
GRCh38: 3:77098287-77098287
5 ROBO2 NM_001128929.3(ROBO2):c.3415G>A (p.Glu1139Lys) SNV Uncertain significance 931412 GRCh37: 3:77666737-77666737
GRCh38: 3:77617586-77617586
6 ROBO2 NM_001128929.3(ROBO2):c.2882T>C (p.Ile961Thr) SNV Uncertain significance 7103 rs267607014 GRCh37: 3:77645881-77645881
GRCh38: 3:77596730-77596730
7 ROBO2 NM_001128929.3(ROBO2):c.3962G>A (p.Arg1321Gln) SNV Uncertain significance 1033555 GRCh37: 3:77684174-77684174
GRCh38: 3:77635023-77635023
8 ROBO2 NM_001128929.3(ROBO2):c.110-57394C>T SNV Uncertain significance 346672 rs886058875 GRCh37: 3:77089771-77089771
GRCh38: 3:77040620-77040620
9 ROBO2 NM_001128929.3(ROBO2):c.*1579A>G SNV Uncertain significance 346737 rs886058884 GRCh37: 3:77696785-77696785
GRCh38: 3:77647634-77647634
10 ROBO2 NM_001128929.3(ROBO2):c.2055A>C (p.Arg685=) SNV Uncertain significance 346695 rs886058877 GRCh37: 3:77623685-77623685
GRCh38: 3:77574534-77574534
11 ROBO2 NM_001128929.3(ROBO2):c.*2104A>G SNV Uncertain significance 346746 rs757318528 GRCh37: 3:77697310-77697310
GRCh38: 3:77648159-77648159
12 ROBO2 NM_001128929.3(ROBO2):c.*3313T>C SNV Uncertain significance 346766 rs538973204 GRCh37: 3:77698519-77698519
GRCh38: 3:77649368-77649368
13 ROBO2 NM_001128929.3(ROBO2):c.*972T>C SNV Uncertain significance 346723 rs886058879 GRCh37: 3:77696178-77696178
GRCh38: 3:77647027-77647027
14 ROBO2 NM_001128929.3(ROBO2):c.*1888C>T SNV Uncertain significance 346740 rs886058886 GRCh37: 3:77697094-77697094
GRCh38: 3:77647943-77647943
15 ROBO2 NM_001128929.3(ROBO2):c.*1950T>G SNV Uncertain significance 346743 rs543178648 GRCh37: 3:77697156-77697156
GRCh38: 3:77648005-77648005
16 ROBO2 NM_001128929.3(ROBO2):c.1881T>C (p.Asp627=) SNV Uncertain significance 346690 rs757943652 GRCh37: 3:77614255-77614255
GRCh38: 3:77565104-77565104
17 ROBO2 NM_001128929.3(ROBO2):c.*1013C>T SNV Uncertain significance 346726 rs886058880 GRCh37: 3:77696219-77696219
GRCh38: 3:77647068-77647068
18 ROBO2 NM_001128929.3(ROBO2):c.4112G>A (p.Arg1371His) SNV Uncertain significance 346715 rs771581041 GRCh37: 3:77693984-77693984
GRCh38: 3:77644833-77644833
19 ROBO2 NM_001128929.3(ROBO2):c.110-57338C>G SNV Uncertain significance 346673 rs542668375 GRCh37: 3:77089827-77089827
GRCh38: 3:77040676-77040676
20 ROBO2 NM_001128929.3(ROBO2):c.*166T>C SNV Uncertain significance 346718 rs886058878 GRCh37: 3:77695372-77695372
GRCh38: 3:77646221-77646221
21 ROBO2 NM_001128929.3(ROBO2):c.*1435C>A SNV Uncertain significance 346735 rs886058882 GRCh37: 3:77696641-77696641
GRCh38: 3:77647490-77647490
22 ROBO2 NM_001128929.3(ROBO2):c.*1894A>G SNV Uncertain significance 346741 rs886058887 GRCh37: 3:77697100-77697100
GRCh38: 3:77647949-77647949
23 ROBO2 NM_001128929.3(ROBO2):c.606A>G (p.Gly202=) SNV Uncertain significance 346679 rs886058876 GRCh37: 3:77530261-77530261
GRCh38: 3:77481110-77481110
24 ROBO2 NM_001128929.3(ROBO2):c.*2886A>C SNV Uncertain significance 346758 rs886058891 GRCh37: 3:77698092-77698092
GRCh38: 3:77648941-77648941
25 ROBO2 NM_001128929.3(ROBO2):c.*2195C>T SNV Uncertain significance 346747 rs372439657 GRCh37: 3:77697401-77697401
GRCh38: 3:77648250-77648250
26 ROBO2 NM_001128929.3(ROBO2):c.*3276T>C SNV Uncertain significance 346764 rs886058892 GRCh37: 3:77698482-77698482
GRCh38: 3:77649331-77649331
27 ROBO2 NM_001128929.3(ROBO2):c.*3536G>A SNV Uncertain significance 346767 rs886058894 GRCh37: 3:77698742-77698742
GRCh38: 3:77649591-77649591
28 ROBO2 NM_001128929.3(ROBO2):c.110-57799C>G SNV Uncertain significance 346665 rs886058872 GRCh37: 3:77089366-77089366
GRCh38: 3:77040215-77040215
29 ROBO2 NM_001128929.3(ROBO2):c.*1075T>C SNV Uncertain significance 346730 rs886058881 GRCh37: 3:77696281-77696281
GRCh38: 3:77647130-77647130
30 ROBO2 NM_001128929.3(ROBO2):c.110-57710C>T SNV Uncertain significance 346668 rs886058874 GRCh37: 3:77089455-77089455
GRCh38: 3:77040304-77040304
31 ROBO2 NM_001128929.3(ROBO2):c.*2370C>T SNV Uncertain significance 346750 rs886058889 GRCh37: 3:77697576-77697576
GRCh38: 3:77648425-77648425
32 ROBO2 NM_001128929.3(ROBO2):c.*1516G>A SNV Uncertain significance 346736 rs886058883 GRCh37: 3:77696722-77696722
GRCh38: 3:77647571-77647571
33 ROBO2 NM_001128929.3(ROBO2):c.3821C>T (p.Thr1274Ile) SNV Uncertain significance 346710 rs772069288 GRCh37: 3:77684033-77684033
GRCh38: 3:77634882-77634882
34 ROBO2 NM_001128929.3(ROBO2):c.*3894A>G SNV Uncertain significance 346773 rs886058897 GRCh37: 3:77699100-77699100
GRCh38: 3:77649949-77649949
35 ROBO2 NM_001128929.3(ROBO2):c.*947C>T SNV Uncertain significance 346722 rs550745516 GRCh37: 3:77696153-77696153
GRCh38: 3:77647002-77647002
36 ROBO2 NM_001128929.3(ROBO2):c.*1915C>T SNV Uncertain significance 346742 rs886058888 GRCh37: 3:77697121-77697121
GRCh38: 3:77647970-77647970
37 ROBO2 NM_001128929.3(ROBO2):c.*3809A>C SNV Uncertain significance 346771 rs886058896 GRCh37: 3:77699015-77699015
GRCh38: 3:77649864-77649864
38 ROBO2 NM_001128929.3(ROBO2):c.*985C>T SNV Uncertain significance 346725 rs114687906 GRCh37: 3:77696191-77696191
GRCh38: 3:77647040-77647040
39 ROBO2 NM_001128929.3(ROBO2):c.110-57790A>G SNV Uncertain significance 346666 rs886058873 GRCh37: 3:77089375-77089375
GRCh38: 3:77040224-77040224
40 ROBO2 NM_001128929.3(ROBO2):c.97G>T (p.Gly33Ter) SNV Uncertain significance 224347 rs747011633 GRCh37: 3:75986741-75986741
GRCh38: 3:75937590-75937590
41 ROBO2 NM_001128929.3(ROBO2):c.3184+2T>C SNV Uncertain significance 225456 rs868180675 GRCh37: 3:77651644-77651644
GRCh38: 3:77602493-77602493
42 ROBO2 NM_001128929.3(ROBO2):c.266C>G (p.Thr89Ser) SNV Uncertain significance 899661 GRCh37: 3:77147321-77147321
GRCh38: 3:77098170-77098170
43 ROBO2 NM_001128929.3(ROBO2):c.4025C>G (p.Pro1342Arg) SNV Uncertain significance 899791 GRCh37: 3:77693897-77693897
GRCh38: 3:77644746-77644746
44 ROBO2 NM_001128929.3(ROBO2):c.*1488T>G SNV Uncertain significance 899845 GRCh37: 3:77696694-77696694
GRCh38: 3:77647543-77647543
45 ROBO2 NM_001128929.3(ROBO2):c.*2921C>T SNV Uncertain significance 899907 GRCh37: 3:77698127-77698127
GRCh38: 3:77648976-77648976
46 ROBO2 NM_001128929.3(ROBO2):c.387G>T (p.Arg129Ser) SNV Uncertain significance 900807 GRCh37: 3:77147442-77147442
GRCh38: 3:77098291-77098291
47 ROBO2 NM_001128929.3(ROBO2):c.420G>A (p.Ala140=) SNV Uncertain significance 900808 GRCh37: 3:77147475-77147475
GRCh38: 3:77098324-77098324
48 ROBO2 NM_001128929.3(ROBO2):c.515C>T (p.Pro172Leu) SNV Uncertain significance 900809 GRCh37: 3:77526643-77526643
GRCh38: 3:77477492-77477492
49 ROBO2 NM_001128929.3(ROBO2):c.676G>A (p.Gly226Arg) SNV Uncertain significance 900810 GRCh37: 3:77530331-77530331
GRCh38: 3:77481180-77481180
50 ROBO2 NM_001128929.3(ROBO2):c.2060T>C (p.Met687Thr) SNV Uncertain significance 900884 GRCh37: 3:77623690-77623690
GRCh38: 3:77574539-77574539

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....