VUR2
MCID: VSC020
MIFTS: 16

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 58 76 30 13 6 74
Vur2 58 76
Reflux, Vesicoureteral, Type 2 41

Characteristics:

HPO:

33
vesicoureteral reflux 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 610878
MeSH 45 D014718
MedGen 43 C1970483
SNOMED-CT via HPO 70 197811007 263681008 32659003
UMLS 74 C1970483

Summaries for Vesicoureteral Reflux 2

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 610878

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:

33
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 33 HP:0000076
2 renal hypoplasia 33 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 30 ROBO2

Anatomical Context for Vesicoureteral Reflux 2

MalaCards organs/tissues related to Vesicoureteral Reflux 2:

42
Kidney

Publications for Vesicoureteral Reflux 2

Articles related to Vesicoureteral Reflux 2:

# Title Authors Year
1
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. ( 17357069 )
2007
2
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. ( 17085183 )
2006

Variations for Vesicoureteral Reflux 2

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

76
# Symbol AA change Variation ID SNP ID
1 ROBO2 p.Ile945Thr VAR_032960 rs267607014
2 ROBO2 p.Ala1236Thr VAR_032961 rs267607015

ClinVar genetic disease variations for Vesicoureteral Reflux 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROBO2 NM_002942.4(ROBO2): c.2834T> C (p.Ile945Thr) single nucleotide variant Pathogenic rs267607014 GRCh37 Chromosome 3, 77645881: 77645881
2 ROBO2 NM_002942.4(ROBO2): c.2834T> C (p.Ile945Thr) single nucleotide variant Pathogenic rs267607014 GRCh38 Chromosome 3, 77596730: 77596730
3 ROBO2 NM_002942.4(ROBO2): c.3706G> A (p.Ala1236Thr) single nucleotide variant Pathogenic rs267607015 GRCh37 Chromosome 3, 77671529: 77671529
4 ROBO2 NM_002942.4(ROBO2): c.3706G> A (p.Ala1236Thr) single nucleotide variant Pathogenic rs267607015 GRCh38 Chromosome 3, 77622378: 77622378
5 ROBO2 NM_001128929.3(ROBO2): c.97G> T (p.Gly33Ter) single nucleotide variant Uncertain significance rs747011633 GRCh37 Chromosome 3, 75986741: 75986741
6 ROBO2 NM_001128929.3(ROBO2): c.97G> T (p.Gly33Ter) single nucleotide variant Uncertain significance rs747011633 GRCh38 Chromosome 3, 75937590: 75937590
7 ROBO2 NM_002942.4(ROBO2): c.335C> T (p.Ala112Val) single nucleotide variant Uncertain significance rs780623744 GRCh37 Chromosome 3, 77147438: 77147438
8 ROBO2 NM_002942.4(ROBO2): c.335C> T (p.Ala112Val) single nucleotide variant Uncertain significance rs780623744 GRCh38 Chromosome 3, 77098287: 77098287
9 ROBO2 NM_002942.4(ROBO2): c.2431C> T (p.Arg811Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 GRCh37 Chromosome 3, 77629200: 77629200
10 ROBO2 NM_002942.4(ROBO2): c.2431C> T (p.Arg811Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 GRCh38 Chromosome 3, 77580049: 77580049
11 ROBO2 NM_001128929.3(ROBO2): c.3184+2T> C single nucleotide variant Uncertain significance rs868180675 GRCh37 Chromosome 3, 77651644: 77651644
12 ROBO2 NM_001128929.3(ROBO2): c.3184+2T> C single nucleotide variant Uncertain significance rs868180675 GRCh38 Chromosome 3, 77602493: 77602493
13 ROBO2 NM_001128929.3(ROBO2): c.19C> A (p.Arg7Ser) single nucleotide variant Benign rs12171318 GRCh37 Chromosome 3, 75986663: 75986663
14 ROBO2 NM_001128929.3(ROBO2): c.19C> A (p.Arg7Ser) single nucleotide variant Benign rs12171318 GRCh38 Chromosome 3, 75937512: 75937512
15 ROBO2 NM_001128929.3(ROBO2): c.73G> A (p.Val25Met) single nucleotide variant Benign rs78834776 GRCh37 Chromosome 3, 75986717: 75986717
16 ROBO2 NM_001128929.3(ROBO2): c.73G> A (p.Val25Met) single nucleotide variant Benign rs78834776 GRCh38 Chromosome 3, 75937566: 75937566

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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