VUR2
MCID: VSC020
MIFTS: 21

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 74 29 13 6 72
Vur2 57 74
Reflux, Vesicoureteral, Type 2 40

Characteristics:

HPO:

32
vesicoureteral reflux 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D014718
MedGen 42 C1970483
UMLS 72 C1970483

Summaries for Vesicoureteral Reflux 2

UniProtKB/Swiss-Prot : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 renal hypoplasia 32 HP:0000089

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:

41
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. 8 71
17357069 2007
2
The Spectrum of Histopathological Changes in the Renal Allograft - a 12 Months Protocol Biopsy Study. 38
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. 38
27988909 2017
4
Wrap plication of megaureter around normal-sized ureter for complete duplex system reimplantations. 38
23174243 2013
5
Initial experience with laparoscopic ipsilateral ureteroureterostomy in infants and children for duplication anomalies of the urinary tract. 38
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. 38
17085183 2006
7
Endoscopic management of vesicoureteral reflux in women presenting with pyelonephritis. 38
17070296 2006
8
Complications of 2735 retrograde semirigid ureteroscopy procedures: a single-center experience. 38
16548724 2006
9
Extravesical diverticuloplasty for repair of a paraureteral diverticulum and the associated refluxing ureter. 38
12187254 2002
10
[Scientific evidence in the endoscopic treatment of the vesico-ureteral reflux]. 38
12601987 2002
11
[Reflux nephropathy within first year of life. Studies of its clinical features and kidney scar-formation according to treatment modalities]. 38
8022135 1994
12
Analysis of solid renal dysplasia by flow cytometry: malignant potential? 38
8517001 1993
13
Acute pancreatitis in six non-transplanted uraemic children. A co-operative study from the French Society of Paediatric Nephrology. 38
2484654 1988

Variations for Vesicoureteral Reflux 2

ClinVar genetic disease variations for Vesicoureteral Reflux 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ROBO2 NM_001128929.3(ROBO2): c.2882T> C (p.Ile961Thr) single nucleotide variant Pathogenic rs267607014 3:77645881-77645881 3:77596730-77596730
2 ROBO2 NM_001128929.3(ROBO2): c.3754G> A (p.Ala1252Thr) single nucleotide variant Pathogenic rs267607015 3:77671529-77671529 3:77622378-77622378
3 ROBO2 NM_001128929.3(ROBO2): c.2479C> T (p.Arg827Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 3:77629200-77629200 3:77580049-77580049
4 ROBO2 NM_001128929.3(ROBO2): c.3184+2T> C single nucleotide variant Uncertain significance rs868180675 3:77651644-77651644 3:77602493-77602493
5 ROBO2 NM_001128929.3(ROBO2): c.97G> T (p.Gly33Ter) single nucleotide variant Uncertain significance rs747011633 3:75986741-75986741 3:75937590-75937590
6 ROBO2 NM_001128929.3(ROBO2): c.383C> T (p.Ala128Val) single nucleotide variant Uncertain significance rs780623744 3:77147438-77147438 3:77098287-77098287
7 ROBO2 NM_001128929.3(ROBO2): c.19C> A (p.Arg7Ser) single nucleotide variant Benign rs12171318 3:75986663-75986663 3:75937512-75937512
8 ROBO2 NM_001128929.3(ROBO2): c.73G> A (p.Val25Met) single nucleotide variant Benign rs78834776 3:75986717-75986717 3:75937566-75937566

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....