VUR
MCID: VSC019
MIFTS: 58

Vesicoureteral Reflux 1 (VUR)

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

Aliases & Classifications for Vesicoureteral Reflux 1

MalaCards integrated aliases for Vesicoureteral Reflux 1:

Name: Vesicoureteral Reflux 1 58 30
Vesicoureteral Reflux 58 12 38 30 13 56 6 15 17
Vesico-Ureteral Reflux 12 45 74
Reflux, Vesicoureteral, Type 1 41
Reflux, Vesicoureteral 41
Vur1 58
Vur 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant vs. multifactorial


Classifications:



External Ids:

Disease Ontology 12 DOID:9620
OMIM 58 193000
KEGG 38 H01037
ICD9CM 36 593.7
MeSH 45 D014718
NCIt 51 C84467
SNOMED-CT 69 26836002
ICD10 34 N13.7 N13.70
SNOMED-CT via HPO 70 197811007
UMLS 74 C0042580

Summaries for Vesicoureteral Reflux 1

OMIM : 58 Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). (193000)

MalaCards based summary : Vesicoureteral Reflux 1, also known as vesicoureteral reflux, is related to congenital anomalies of kidney and urinary tract 2 and familial vesicoureteral reflux, and has symptoms including dysuria and urgency of micturition. An important gene associated with Vesicoureteral Reflux 1 is C12orf57 (Chromosome 12 Open Reading Frame 57), and among its related pathways/superpathways are Wnt signaling pathway and Renin secretion. The drugs Hyaluronic acid and Sulfamethoxazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and testes, and related phenotypes are abnormality of the skeletal system and vesicoureteral reflux

Disease Ontology : 12 A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.

Wikipedia : 77 Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows... more...

Related Diseases for Vesicoureteral Reflux 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 156)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 2 32.7 PLEKHF1 ROBO2
2 familial vesicoureteral reflux 32.3 AGTR2 ROBO2 TNXB
3 posterior urethral valves 31.4 AGT AGTR1 AGTR2
4 multicystic dysplastic kidney 31.1 AGTR2 PAX2 REN
5 urinary tract obstruction 31.0 NAGLU REN UMOD
6 chronic kidney failure 30.8 AGT AGTR1 PAX2 REN UMOD
7 renal dysplasia 30.8 AGT AGTR1 PAX2 REN
8 cakut 30.6 AGTR2 PAX2 UMOD
9 end stage renal failure 30.5 AGT AGTR1 UMOD
10 kidney disease 29.9 AGT AGTR1 AGTR2 AMBP NAGLU PAX2
11 vesicoureteral reflux 2 12.8
12 vesicoureteral reflux 3 12.8
13 vesicoureteral reflux 8 12.6
14 vesicoureteral reflux 5 12.5
15 vesicoureteral reflux 6 12.5
16 vesicoureteral reflux 4 12.4
17 vesicoureteral reflux, x-linked 12.3
18 vesicoureteral reflux 7 12.3
19 papillorenal syndrome 12.2
20 kleefstra syndrome 11.6
21 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.2
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.2
23 urofacial syndrome 2 11.2
24 hypotonia, ataxia, and delayed development syndrome 11.2
25 autosomal recessive cutis laxa type i 11.2
26 collins pope syndrome 11.2
27 perrault syndrome 1 11.1
28 urofacial syndrome 1 11.1
29 phelan-mcdermid syndrome 11.1
30 congenital anomalies of kidney and urinary tract 1 11.1
31 renal hypodysplasia/aplasia 3 11.1
32 neurogenic bladder 10.6
33 acute pyelonephritis 10.5
34 spinal cord injury 10.5
35 cystitis 10.4
36 ureterocele 10.4
37 potter's syndrome 10.4 AGT REN
38 malignant secondary hypertension 10.4 AGTR2 REN
39 renal artery disease 10.4 AGT AGTR1 REN
40 anuria 10.4 AGT AGTR1 REN
41 fibromuscular dysplasia 10.4 AGT AGTR1 REN
42 congenital hepatic fibrosis 10.4 AGTR1 REN
43 renal tubular dysgenesis 10.4 AGT AGTR1 REN
44 meningococcal infection 10.4 AGT AGTR1
45 familial hypertension 10.4 AGT AGTR1 REN
46 malignant essential hypertension 10.4 AGTR2 REN
47 hypertensive nephropathy 10.3 AGTR1 AMBP NAGLU
48 xanthinuria, type i 10.3 AMBP NAGLU UMOD
49 interstitial nephritis 10.3 AGT REN UMOD
50 polyhydramnios 10.3

Comorbidity relations with Vesicoureteral Reflux 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Bladder Neck Obstruction
Chronic Kidney Failure Deficiency Anemia
Hydronephrosis Prostatic Hypertrophy

Graphical network of the top 20 diseases related to Vesicoureteral Reflux 1:



Diseases related to Vesicoureteral Reflux 1

Symptoms & Phenotypes for Vesicoureteral Reflux 1

Human phenotypes related to Vesicoureteral Reflux 1:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 33 HP:0000924
2 vesicoureteral reflux 33 HP:0000076

Symptoms via clinical synopsis from OMIM:

58
G U:
vesicoureteral reflux
progressive renal damage if untreated

Radiology:
detection by radionuclide voiding cystography

Clinical features from OMIM:

193000

UMLS symptoms related to Vesicoureteral Reflux 1:


dysuria, urgency of micturition

MGI Mouse Phenotypes related to Vesicoureteral Reflux 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 AGT AGTR1 AGTR2 MEOX2 NAGLU PAX2
2 renal/urinary system MP:0005367 9.32 AGT AGTR1 AGTR2 MEOX2 NAGLU PAX2

Drugs & Therapeutics for Vesicoureteral Reflux 1

Drugs for Vesicoureteral Reflux 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
2
Sulfamethoxazole Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 723-46-6 5329
3
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 6006 143
4
Trimethoprim Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 738-70-5 5578
5
Nitrofurantoin Approved, Vet_approved Phase 4,Phase 3 67-20-9 5353830
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
7 Viscosupplements Phase 4
8 Adjuvants, Immunologic Phase 4
9 Immunologic Factors Phase 4
10 Protective Agents Phase 4
11 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 1,Phase 2
12 Antitubercular Agents Phase 4,Phase 3,Phase 1,Phase 2
13 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
14 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
16 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2
18 Antimalarials Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
19 Vitamin B9 Phase 4,Phase 3,Phase 1,Phase 2
20 Folate Phase 4,Phase 3,Phase 1,Phase 2
21 Anti-Infective Agents, Urinary Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
22 Antiparasitic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
23 Antiprotozoal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
25 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
26
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
27
Cefixime Approved, Investigational Phase 3 79350-37-1 5362065 54362
28
Clavulanate Approved, Vet_approved Phase 3 58001-44-8 5280980
29 carnitine Phase 3
30 Amoxicillin-Potassium Clavulanate Combination Phase 3
31 beta-Lactamase Inhibitors Phase 3
32 Pharmaceutical Solutions Phase 1, Phase 2
33
Pancrelipase Approved, Investigational 53608-75-6
34
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
35 pancreatin
36 Cephalosporins
37 Anesthetics ,Not Applicable
38 Anti-Infective Agents, Local Not Applicable
39 Benzalkonium Compounds Not Applicable
40 Neurotransmitter Agents Not Applicable
41 Anesthetics, Intravenous Not Applicable
42 Psychotropic Drugs Not Applicable
43 Central Nervous System Depressants Not Applicable
44 Anti-Anxiety Agents Not Applicable
45 Adjuvants, Anesthesia Not Applicable
46 GABA Modulators Not Applicable
47 GABA Agents Not Applicable
48 Hypnotics and Sedatives Not Applicable
49 Tranquilizing Agents Not Applicable
50 Anesthetics, General Not Applicable

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 A Prospective Study Comparing the Success Rate of Injection of (DefluxR) Versus (VantrisR) for VUR in Children Unknown status NCT02271035 Phase 4 Deflux;Vantris
2 Evaluation of the Effectiveness of Antibiotic Prophylaxis in Children With a Previous Urinary Tract Infection Unknown status NCT00156546 Phase 4 antibiotic to reduce the recurrence of infection
3 A Randomized Controlled Trial on Antibiotic Prophylaxis in Children With Vesico-Ureteral Reflux Completed NCT00382343 Phase 4 Sulfamethoxazole/trimethoprim
4 Comparative Effectiveness of CEUS Versus DMSA in Renal Scarring Detection Not yet recruiting NCT03653702 Phase 4 Lumason
5 Phase III Study of Chondrocyte Alginate Gel Suspension in Pediatric Patients With Vesicoureteral Reflux Unknown status NCT00004487 Phase 3 chondrocyte-alginate gel suspension
6 L-carnitine on the Prevention of Renal Scarring in Acute Pyelonephritis Unknown status NCT02007889 Phase 3 L-carnitine
7 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3 Trimethoprim-Sulfamethoxazole;Placebo
8 Evaluation of the Efficiency of Autologous Adipocytes Graft in Endoscopic Treatment in Vesico-Renal Reflux in Children Recruiting NCT00367159 Phase 3
9 Antibiotic Prophylaxis and Renal Damage In Congenital Abnormalities of the Kidney and Urinary Tract Recruiting NCT02021006 Phase 3 nitrofurantoin;Amoxicillin-Potassium Clavulanate Combination;Trimethoprim/sulfamethoxazole;Cefixime
10 Antibiotic Prophylaxis in Children With Pyelonephritis Withdrawn NCT00752375 Phase 3 Trimethoprim Sulfamethoxazole;placebo
11 Can Probiotics be Used in the Prevention of Recurrent UTI in Paediatric Neurogenic Bladder Unknown status NCT02044965 Phase 1, Phase 2 Probiotic
12 CeVUS With Intravesical Administration of OPTISON TM (Trademark) in Children Completed NCT02204917 Phase 1, Phase 2 OPTISON
13 Contrast Enhanced Ultrasound for Evaluation of Reflux Nephropathy Completed NCT02786810 Phase 2 Sulfur hexafluoride type-a lipid microspheres
14 Determination of Voiding Patterns of Children With Vesicoureteral Reflux Unknown status NCT00186199
15 Change of Urinary Metabolic Profile Secondary to a Congenital Urine Flow Impairment (UFI) by Nuclear Magnetic Resonance (NMR) and Metabolomics Analysis Unknown status NCT02792348
16 Protocol DIVAT-Uro Unknown status NCT01280708
17 Prospective Pediatric Vesicoureteral Reflux Surgery Database Completed NCT01373385
18 Efficacy of Endoscopic Subureteral Injection for Vesicoureteral Reflux in Adults With Decreased Bladder Compliance Completed NCT00815334 Not Applicable
19 Polyacrylate Polyalcohol Copolymer for Vesicoureteral Reflux Completed NCT01926353
20 Reflux in Spinal Cord Injury Patients With Neurogenic Lower Urinary Tract Dysfunction Completed NCT01297673
21 Usefulness of Antimicrobial Prophylaxis in Children With Isolated Vesico-Ureteral Reflux. Completed NCT00200616 Not Applicable
22 The Long Term Follow-Up Results Of The Direct Nipple Ureteroneocystostomy Technique Completed NCT01780493 Not Applicable
23 Sterile Single-use vs Reused Polyvinylchloride Catheter For Intermittent Catheterization In Neurogenic Bladder Completed NCT03424499 Not Applicable
24 DVD-Based Training Program in Self-Hypnosis for Children Recruiting NCT01483105 Not Applicable
25 Is Urethral Catheter Necessary After Ureteroscopy and DJ Stent Placement? Recruiting NCT03713411 Not Applicable
26 Minimizing the Utilization of Voiding Cystourethrography for Patients With Antenatal Hydronephrosis Recruiting NCT02825485 Not Applicable
27 Parent Education and Medical Play: A Comparison of Psychological Preparation Strategies for Voiding Cystourethrogram Terminated NCT01578291 Not Applicable
28 Midazolam Effect in Children Undergoing Voiding Cystourethrogram (VCUG) Terminated NCT00894465 Not Applicable midazolam;placebo
29 Clinical Applications of Contrast-Enhanced Ultrasonography in Pediatric Population - Intravesicle Administration Withdrawn NCT02986477 Not Applicable
30 Study of Endoscopic Versus Open Surgery for Urinary Reflux Withdrawn NCT00830479 Not Applicable
31 Bacterial and Host Genetic Risk Factors in Acute Pyelonephritis Withdrawn NCT01137929
32 (ARFI) Shear Velocity Imaging of the Kidneys in Pediatric Patients Withdrawn NCT01781819 Not Applicable

Search NIH Clinical Center for Vesicoureteral Reflux 1

Cochrane evidence based reviews: vesico-ureteral reflux

Genetic Tests for Vesicoureteral Reflux 1

Genetic tests related to Vesicoureteral Reflux 1:

# Genetic test Affiliating Genes
1 Vesicoureteral Reflux 30
2 Vesicoureteral Reflux 1 30

Anatomical Context for Vesicoureteral Reflux 1

MalaCards organs/tissues related to Vesicoureteral Reflux 1:

42
Kidney, Spinal Cord, Testes, Adipocyte, Colon, Eye, Prostate

Publications for Vesicoureteral Reflux 1

Articles related to Vesicoureteral Reflux 1:

(show top 50) (show all 1979)
# Title Authors Year
1
Re: Feasibility of Superb Microvascular Imaging to Detect High-Grade Vesicoureteral Reflux in Children with Urinary Tract Infection. ( 30634320 )
2019
2
Managing vesicoureteral reflux in children: making sense of all the data. ( 30647916 )
2019
3
Renal tubular markers as screening tools for severe vesicoureteral reflux. ( 30706159 )
2019
4
Predictors of Renal Dysfunction in Adults with Childhood Vesicoureteral Reflux after Long-Term Follow-Up. ( 30740171 )
2019
5
Evaluation of cyclic direct radionuclide cystography findings with DMSA scintigraphy results in children with a prior diagnosis of vesicoureteral reflux. ( 30741838 )
2019
6
Re: Long-Term (>10 Years) Results after Endoscopic Injection Therapy for Vesicoureteral Reflux. ( 30747881 )
2019
7
New trends in voiding cystourethrography and vesicoureteral reflux: Who, when and how? ( 30762254 )
2019
8
Usefulness of the classification of urinary dysfunction for the prognosis of the first endoscopic treatment of vesicoureteral reflux in children over the age of 3. ( 30833101 )
2019
9
Role of Late DMSA Renal Scan in Detecting High-Grade Vesicoureteral Reflux. ( 30859438 )
2019
10
Can we predict vesicoureteral reflux resolution in patients with non-neurogenic lower urinary tract dysfunction? ( 30873655 )
2019
11
Parental Preferences for Vesicoureteral Reflux Treatment: a Crowd-sourced, Best-worst Scaling Study. ( 30878684 )
2019
12
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. ( 29351342 )
2018
13
Lower urinary tract dysfunction in pediatric patients after ureteroneocystostomy due to vesicoureteral reflux: Long-term follow-up. ( 29322636 )
2018
14
A meta-analysis of the incidence and fate of contralateral vesicoureteral reflux in unilateral multicystic dysplastic kidney. ( 30482499 )
2018
15
Late presentation of vesicoureteral reflux: An unusual cause of pyelonephritis in adults. ( 30428440 )
2018
16
Predictors of grade 3-5 vesicoureteral reflux in infants ≤ 2 months of age with pyelonephritis. ( 30588547 )
2018
17
Big Data and the Big Questions Surrounding Vesicoureteral Reflux Management. ( 29268077 )
2018
18
Surgical Outcome Analysis of Pneumovesicoscopic Ureteral Reimplantation and Endoscopic Dextranomer/Hyaluronic Acid Injection for Primary Vesicoureteral Reflux in Children: A Multicenter 12-Year Review. ( 29271690 )
2018
19
Re: Incidence of Urinary Tract Infection among Siblings of Children with Vesicoureteral Reflux. ( 29310156 )
2018
20
Re: Computer Model Predicting Breakthrough Febrile Urinary Tract Infection in Children with Primary Vesicoureteral Reflux. ( 29357577 )
2018
21
Robot-assisted laparoscopic versus open ureteral reimplantation for pediatric vesicoureteral reflux: a systematic review and meta-analysis. ( 29374841 )
2018
22
Factors involved in the late failure of endoscopic treatment of vesicoureteral reflux. ( 29397210 )
2018
23
The effect of prior endoscopic correction of vesicoureteral reflux on open ureteral reimplantation: Surgical outcomes and costs. ( 29534861 )
2018
24
Endoscopic Injection of Dextranomer/Hyaluronic Acid as First Line Treatment in 851 Consecutive Children with High Grade Vesicoureteral Reflux: Efficacy and Long-Term Results. ( 29551405 )
2018
25
Prediction of vesicoureteral reflux in children with febrile urinary tract infection using relative uptake and cortical defect in DMSA scan. ( 29576374 )
2018
26
Endoscopic Treatment for Vesicoureteral Reflux in Recurrent Urinary Tract Infections in Kidney Transplant: Experience of One Center. ( 29579838 )
2018
27
Unexpected Vesicoureteral Reflux Into a Nonfunctioning Transplant Kidney on Renal Scintigraphy. ( 29659393 )
2018
28
Dextranomer/Hyaluronic Acid Calcification Masquerading as Distal Ureteral Calculi in a Patient Previously Treated for Vesicoureteral Reflux. ( 29675477 )
2018
29
Retrocaval Ureter Manifested after Ureteral Reimplantation for Ipsilateral Vesicoureteral Reflux: A Case Report. ( 29681048 )
2018
30
Randomized clinical trial between polyacrylate-polyalcohol copolymer (PPC) and dextranomer-hyaluronic acid copolymer (Dx/HA) as bulking agents for endoscopic treatment of primary vesicoureteral reflux (VUR). ( 29725806 )
2018
31
Predicting long-term renal damage in children with vesicoureteral reflux under conservative initial management: 205 cases in a tertiary referral center. ( 29732221 )
2018
32
Comparison of contrast-enhanced voiding urosonography with voiding cystourethrography in pediatric vesicoureteral reflux. ( 29733800 )
2018
33
New bulking agent for the treatment of vesicoureteral reflux: Polymethylmethacrylate/dextranomer. ( 29744479 )
2018
34
Historical bibliometric analysis of the top cited articles on vesicoureteral reflux 1950-2016, and incorporation of a novel impact index. ( 29776870 )
2018
35
Did our current initial treatment practice change after EAU/ESPU vesicoureteral reflux risk grouping? ( 29871762 )
2018
36
Delayed diagnosis of primary vesicoureteral reflux in children with recurrent urinary tract infections: Diagnostic approach and renal outcomes. ( 29875036 )
2018
37
Endoscopic Therapy for High Grade Vesicoureteral Reflux-First Line Therapy or Too Good to be True? ( 29935158 )
2018
38
Association of vesicoureteral reflux and renal scarring in urinary tract infections. ( 30016028 )
2018
39
Shear Wave Elastography in the Evaluation of the Kidneys in Pediatric Patients with Unilateral Vesicoureteral Reflux. ( 30027586 )
2018
40
Long-Term (>10 Years) Results After Endoscopic Injection Therapy for Vesicoureteral Reflux. ( 30036128 )
2018
41
Reduced differential renal function in scintigraphy predicted high-grade vesicoureteral reflux in children with antenatal hydronephrosiss. ( 30113092 )
2018
42
The Prevalence of Redo-Ureteroneocystostomy and Associated Risk Factors inPediatric Vesicoureteral Reflux Patients Treated with Ureteroneocystostomy. ( 30120762 )
2018
43
Primary vesicoureteral reflux; what have we learnt from the recently published randomized, controlled trials? ( 30132079 )
2018
44
Comparing treatment modalities for transplant kidney vesicoureteral reflux in the pediatric population. ( 30146426 )
2018
45
Evaluation of the intravesical ureters after failed endoscopic treatment of vesicoureteral reflux with dextranomer/hyaluronic acid in children via light and transmission electron microscopic analysis. A Matched Case-Control Study. ( 30178448 )
2018
46
A comparison between dextranomer/ hyaluronic acid and polyacrylate polyalcohol copolymer as bulking agents for treating primary vesicoureteral reflux. ( 30178456 )
2018
47
Impact of continuous low-dose antibiotic prophylaxis on growth in children with vesicoureteral reflux. ( 30181099 )
2018
48
Long-term Outcomes of Endoscopic Anti-reflux Surgery in Pediatric Patients with Vesicoureteral Reflux: Urinary Tract Infection, Renal Scarring, and Predictive Factors for Success. ( 30224908 )
2018
49
Streamlining risk stratification in infants and young children with spinal dysraphism: Vesicoureteral reflux and/or bladder trabeculations outperforms other urodynamic findings for predicting adverse outcomes. ( 30253979 )
2018
50
Fluid-structure interaction simulation of ureter with vesicoureteral reflux and primary obstructed megaureter. ( 30282337 )
2018

Variations for Vesicoureteral Reflux 1

ClinVar genetic disease variations for Vesicoureteral Reflux 1:

6 (show top 50) (show all 232)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROBO2 NM_002942.4(ROBO2): c.2431C> T (p.Arg811Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 GRCh37 Chromosome 3, 77629200: 77629200
2 ROBO2 NM_002942.4(ROBO2): c.2431C> T (p.Arg811Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 GRCh38 Chromosome 3, 77580049: 77580049
3 C12orf57 NM_138425.3(C12orf57): c.53-2A> G single nucleotide variant Pathogenic rs1114167293 GRCh37 Chromosome 12, 7053637: 7053637
4 C12orf57 NM_138425.3(C12orf57): c.53-2A> G single nucleotide variant Pathogenic rs1114167293 GRCh38 Chromosome 12, 6944474: 6944474
5 46;XY;t(2;13)(p25.2;q31.3)dn Translocation Uncertain significance
6 46;X;inv(X)(p11.4q24)dn inversion Pathogenic
7 ROBO2 NM_002942.4(ROBO2): c.94C> A (p.Arg32=) single nucleotide variant Benign rs6788280 GRCh38 Chromosome 3, 77098046: 77098046
8 ROBO2 NM_002942.4(ROBO2): c.94C> A (p.Arg32=) single nucleotide variant Benign rs6788280 GRCh37 Chromosome 3, 77147197: 77147197
9 ROBO2 NM_002942.4(ROBO2): c.1157C> T (p.Ala386Val) single nucleotide variant Uncertain significance rs199705591 GRCh38 Chromosome 3, 77550915: 77550915
10 ROBO2 NM_002942.4(ROBO2): c.1157C> T (p.Ala386Val) single nucleotide variant Uncertain significance rs199705591 GRCh37 Chromosome 3, 77600066: 77600066
11 ROBO2 NM_002942.4(ROBO2): c.1284G> T (p.Thr428=) single nucleotide variant Likely benign rs191732065 GRCh38 Chromosome 3, 77557996: 77557996
12 ROBO2 NM_002942.4(ROBO2): c.1284G> T (p.Thr428=) single nucleotide variant Likely benign rs191732065 GRCh37 Chromosome 3, 77607147: 77607147
13 ROBO2 NM_002942.4(ROBO2): c.1544A> T (p.Asn515Ile) single nucleotide variant Likely benign rs80051448 GRCh38 Chromosome 3, 77563191: 77563191
14 ROBO2 NM_002942.4(ROBO2): c.1544A> T (p.Asn515Ile) single nucleotide variant Likely benign rs80051448 GRCh37 Chromosome 3, 77612342: 77612342
15 ROBO2 NM_002942.4(ROBO2): c.1849+8C> G single nucleotide variant Likely benign rs144780438 GRCh38 Chromosome 3, 77565128: 77565128
16 ROBO2 NM_002942.4(ROBO2): c.1849+8C> G single nucleotide variant Likely benign rs144780438 GRCh37 Chromosome 3, 77614279: 77614279
17 ROBO2 NM_002942.4(ROBO2): c.2007A> C (p.Arg669=) single nucleotide variant Uncertain significance rs886058877 GRCh38 Chromosome 3, 77574534: 77574534
18 ROBO2 NM_002942.4(ROBO2): c.2007A> C (p.Arg669=) single nucleotide variant Uncertain significance rs886058877 GRCh37 Chromosome 3, 77623685: 77623685
19 ROBO2 NM_002942.4(ROBO2): c.2329-12C> A single nucleotide variant Likely benign rs115128094 GRCh38 Chromosome 3, 77579935: 77579935
20 ROBO2 NM_002942.4(ROBO2): c.2329-12C> A single nucleotide variant Likely benign rs115128094 GRCh37 Chromosome 3, 77629086: 77629086
21 ROBO2 NM_002942.4(ROBO2): c.2394C> T (p.Ser798=) single nucleotide variant Likely benign rs200412132 GRCh38 Chromosome 3, 77580012: 77580012
22 ROBO2 NM_002942.4(ROBO2): c.2394C> T (p.Ser798=) single nucleotide variant Likely benign rs200412132 GRCh37 Chromosome 3, 77629163: 77629163
23 ROBO2 NM_002942.4(ROBO2): c.3137-14G> A single nucleotide variant Likely benign rs188399309 GRCh38 Chromosome 3, 77607784: 77607784
24 ROBO2 NM_002942.4(ROBO2): c.3137-14G> A single nucleotide variant Likely benign rs188399309 GRCh37 Chromosome 3, 77656935: 77656935
25 ROBO2 NM_002942.4(ROBO2): c.3472C> T (p.Arg1158Trp) single nucleotide variant Uncertain significance rs747971442 GRCh38 Chromosome 3, 77617691: 77617691
26 ROBO2 NM_002942.4(ROBO2): c.3472C> T (p.Arg1158Trp) single nucleotide variant Uncertain significance rs747971442 GRCh37 Chromosome 3, 77666842: 77666842
27 ROBO2 NM_002942.4(ROBO2): c.3554+13delA deletion Benign rs78824327 GRCh38 Chromosome 3, 77617786: 77617786
28 ROBO2 NM_002942.4(ROBO2): c.3554+13delA deletion Benign rs78824327 GRCh37 Chromosome 3, 77666937: 77666937
29 ROBO2 NM_002942.4(ROBO2): c.3753T> C (p.Ser1251=) single nucleotide variant Likely benign rs201292837 GRCh38 Chromosome 3, 77622425: 77622425
30 ROBO2 NM_002942.4(ROBO2): c.3753T> C (p.Ser1251=) single nucleotide variant Likely benign rs201292837 GRCh37 Chromosome 3, 77671576: 77671576
31 ROBO2 NM_002942.4(ROBO2): c.3857G> T (p.Arg1286Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200131009 GRCh38 Chromosome 3, 77634966: 77634966
32 ROBO2 NM_002942.4(ROBO2): c.3857G> T (p.Arg1286Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200131009 GRCh37 Chromosome 3, 77684117: 77684117
33 ROBO2 NM_002942.4(ROBO2): c.3876G> A (p.Lys1292=) single nucleotide variant Likely benign rs200933374 GRCh38 Chromosome 3, 77634985: 77634985
34 ROBO2 NM_002942.4(ROBO2): c.3876G> A (p.Lys1292=) single nucleotide variant Likely benign rs200933374 GRCh37 Chromosome 3, 77684136: 77684136
35 ROBO2 NM_002942.4(ROBO2): c.4056C> T (p.Gly1352=) single nucleotide variant Likely benign rs184958084 GRCh38 Chromosome 3, 77644825: 77644825
36 ROBO2 NM_002942.4(ROBO2): c.4056C> T (p.Gly1352=) single nucleotide variant Likely benign rs184958084 GRCh37 Chromosome 3, 77693976: 77693976
37 ROBO2 NM_002942.4(ROBO2): c.4064G> A (p.Arg1355His) single nucleotide variant Uncertain significance rs771581041 GRCh38 Chromosome 3, 77644833: 77644833
38 ROBO2 NM_002942.4(ROBO2): c.4064G> A (p.Arg1355His) single nucleotide variant Uncertain significance rs771581041 GRCh37 Chromosome 3, 77693984: 77693984
39 ROBO2 NM_002942.4(ROBO2): c.*486A> T single nucleotide variant Likely benign rs181305605 GRCh38 Chromosome 3, 77646541: 77646541
40 ROBO2 NM_002942.4(ROBO2): c.*486A> T single nucleotide variant Likely benign rs181305605 GRCh37 Chromosome 3, 77695692: 77695692
41 ROBO2 NM_002942.4(ROBO2): c.*947C> T single nucleotide variant Likely benign rs550745516 GRCh38 Chromosome 3, 77647002: 77647002
42 ROBO2 NM_002942.4(ROBO2): c.*947C> T single nucleotide variant Likely benign rs550745516 GRCh37 Chromosome 3, 77696153: 77696153
43 ROBO2 NM_002942.4(ROBO2): c.*972T> C single nucleotide variant Uncertain significance rs886058879 GRCh38 Chromosome 3, 77647027: 77647027
44 ROBO2 NM_002942.4(ROBO2): c.*972T> C single nucleotide variant Uncertain significance rs886058879 GRCh37 Chromosome 3, 77696178: 77696178
45 ROBO2 NM_002942.4(ROBO2): c.*985C> A single nucleotide variant Likely benign rs114687906 GRCh38 Chromosome 3, 77647040: 77647040
46 ROBO2 NM_002942.4(ROBO2): c.*985C> A single nucleotide variant Likely benign rs114687906 GRCh37 Chromosome 3, 77696191: 77696191
47 ROBO2 NM_002942.4(ROBO2): c.*985C> T single nucleotide variant Uncertain significance rs114687906 GRCh38 Chromosome 3, 77647040: 77647040
48 ROBO2 NM_002942.4(ROBO2): c.*985C> T single nucleotide variant Uncertain significance rs114687906 GRCh37 Chromosome 3, 77696191: 77696191
49 ROBO2 NM_002942.4(ROBO2): c.*1061C> T single nucleotide variant Likely benign rs186113368 GRCh38 Chromosome 3, 77647116: 77647116
50 ROBO2 NM_002942.4(ROBO2): c.*1061C> T single nucleotide variant Likely benign rs186113368 GRCh37 Chromosome 3, 77696267: 77696267

Expression for Vesicoureteral Reflux 1

Search GEO for disease gene expression data for Vesicoureteral Reflux 1.

Pathways for Vesicoureteral Reflux 1

Pathways related to Vesicoureteral Reflux 1 according to KEGG:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.97 AGT AGTR1 REN
2
Show member pathways
10.83 AGT AGTR1 AGTR2 REN

GO Terms for Vesicoureteral Reflux 1

Biological processes related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.71 AGT AGTR2 REN
2 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.64 AGT AGTR2
3 positive regulation of blood vessel diameter GO:0097755 9.64 AGT AGTR2
4 regulation of vasoconstriction GO:0019229 9.63 AGT AGTR1
5 vasodilation GO:0042311 9.63 AGT AGTR2
6 nitric oxide mediated signal transduction GO:0007263 9.62 AGT AGTR2
7 cellular sodium ion homeostasis GO:0006883 9.62 AGT AGTR2
8 positive regulation of cellular protein metabolic process GO:0032270 9.61 AGT AGTR1
9 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.61 AGT AGTR1
10 cell growth involved in cardiac muscle cell development GO:0061049 9.6 AGT AGTR2
11 low-density lipoprotein particle remodeling GO:0034374 9.59 AGT AGTR1
12 positive regulation of renal sodium excretion GO:0035815 9.58 AGT AGTR2
13 regulation of blood vessel diameter GO:0097746 9.58 AGTR1 AGTR2
14 mesonephros development GO:0001823 9.57 PAX2 REN
15 angiotensin-activated signaling pathway GO:0038166 9.56 AGTR1 AGTR2
16 positive regulation of cholesterol esterification GO:0010873 9.55 AGT AGTR1
17 positive regulation of NAD(P)H oxidase activity GO:0033864 9.52 AGT AGTR1
18 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.51 AGT AGTR1
19 metanephric distal convoluted tubule development GO:0072221 9.49 PAX2 UMOD
20 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.48 AGT AGTR2
21 regulation of renal sodium excretion GO:0035813 9.46 AGT AGTR1
22 positive regulation of metanephric glomerulus development GO:0072300 9.43 AGTR2 PAX2
23 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.4 AGT AGTR1
24 regulation of blood volume by renin-angiotensin GO:0002016 9.37 AGT REN
25 kidney development GO:0001822 9.35 AGT AGTR1 REN ROBO2 UPK3A
26 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 AGT AGTR2 PAX2
27 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.32 AGT AGTR2
28 regulation of metanephros size GO:0035566 9.26 AGTR2 PAX2
29 renin-angiotensin regulation of aldosterone production GO:0002018 8.92 AGT AGTR1 AGTR2 REN

Molecular functions related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiotensin type II receptor activity GO:0004945 8.62 AGTR1 AGTR2

Sources for Vesicoureteral Reflux 1

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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