MCID: VSC019
MIFTS: 57

Vesicoureteral Reflux 1

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Vesicoureteral Reflux 1

MalaCards integrated aliases for Vesicoureteral Reflux 1:

Name: Vesicoureteral Reflux 1 57 29
Vesicoureteral Reflux 57 12 37 29 13 55 6 15
Vesico-Ureteral Reflux 12 44 73
Reflux, Vesicoureteral, Type 1 40
Reflux, Vesicoureteral 40
Vur1 57
Vur 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial


Classifications:



External Ids:

OMIM 57 193000
Disease Ontology 12 DOID:9620
ICD10 33 N13.7 N13.70
ICD9CM 35 593.7
MeSH 44 D014718
NCIt 50 C84467
MedGen 42 C0042580
KEGG 37 H01037
UMLS 73 C0042580

Summaries for Vesicoureteral Reflux 1

OMIM : 57 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 familial vesicoureteral reflux and renal dysplasia, 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 adipocyte, and related phenotypes are vesicoureteral reflux and abnormality of the skeletal system

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

Wikipedia : 76 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 58)
# Related Disease Score Top Affiliating Genes
1 familial vesicoureteral reflux 32.7 AGTR2 ROBO2 SOX17
2 renal dysplasia 31.1 AGT AGTR1 PAX2 REN
3 vesicoureteral reflux 2 12.5
4 vesicoureteral reflux 3 12.5
5 vesicoureteral reflux 8 12.5
6 kleefstra syndrome 11.4
7 urofacial syndrome 1 10.9
8 phelan-mcdermid syndrome 10.9
9 congenital anomalies of kidney and urinary tract 1 10.9
10 renal hypodysplasia/aplasia 3 10.9
11 posterior urethral valves 10.9 AGT AGTR1 AGTR2
12 multicystic dysplastic kidney 10.9 AGTR2 PAX2 REN
13 malignant secondary hypertension 10.8 AGTR2 REN
14 anuria 10.8 AGT AGTR1 REN
15 malignant hypertension 10.8 AGT AGTR1 REN
16 renal hypoplasia 10.8 PAX2 ROBO2
17 fibromuscular dysplasia 10.8 AGT AGTR1 REN
18 renal artery disease 10.8 AGTR1 REN
19 end stage renal failure 10.8 AGT AGTR1 UMOD
20 renal tubular dysgenesis 10.8 AGT AGTR1 REN
21 interstitial nephritis 10.7 AGT REN UMOD
22 hypertensive nephropathy 10.7 AGTR1 AMBP NAGLU
23 congenital hepatic fibrosis 10.7 AGTR1 REN
24 xanthinuria, type i 10.7 AMBP NAGLU UMOD
25 oligohydramnios 10.7 AGT AGTR1 REN
26 nephrolithiasis, calcium oxalate 10.7 AMBP NAGLU UMOD
27 familial hypertension 10.7 AGT AGTR1
28 urinary tract obstruction 10.7 NAGLU REN UMOD
29 urinary system disease 10.7 NAGLU REN UMOD
30 arteries, anomalies of 10.7 AGT AGTR1 REN
31 meningococcal infection 10.7 AGT AGTR1
32 iga glomerulonephritis 10.6 AGTR1 NAGLU REN
33 microvascular complications of diabetes 3 10.6 AGT AGTR1 NAGLU REN
34 malignant essential hypertension 10.5 AGTR2 REN
35 chronic kidney failure 10.5 AGT AGTR1 PAX2 REN UMOD
36 ureteral disease 10.5 PAX2 REN ROBO2 SOX17 UPK3A
37 hypertension, essential 10.5 AGT AGTR1 AGTR2 REN
38 aortic coarctation 10.5 AGT AGTR1
39 pre-eclampsia 10.4 AGT AGTR1 AGTR2 REN
40 hydronephrosis 10.4
41 pyelonephritis 10.4
42 diastolic heart failure 10.2 AGT AGTR1
43 neural tube defects 10.2
44 neurogenic bladder 10.2
45 polyhydramnios 10.2
46 bladder diverticulum 10.1
47 hydrocephalus 10.1
48 pseudohypoaldosteronism 10.1
49 spina bifida occulta 10.1
50 chronic pyelonephritis 10.1

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

Symptoms via clinical synopsis from OMIM:

57
GU:
vesicoureteral reflux
progressive renal damage if untreated

Radiology:
detection by radionuclide voiding cystography


Clinical features from OMIM:

193000

Human phenotypes related to Vesicoureteral Reflux 1:

32
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 abnormality of the skeletal system 32 HP:0000924

UMLS symptoms related to Vesicoureteral Reflux 1:


dysuria, urgency of micturition

MGI Mouse Phenotypes related to Vesicoureteral Reflux 1:

46
# 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 top 50) (show all 52)
# 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
Trimethoprim Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 738-70-5 5578
4
Nitrofurantoin Approved, Vet_approved Phase 4,Phase 3 67-20-9 5353830
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
7 Adjuvants, Immunologic Phase 4
8 Protective Agents Phase 4,Phase 3
9 Viscosupplements Phase 4
10 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
11 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 1,Phase 2
12 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
13 Antitubercular Agents Phase 4,Phase 3,Phase 1,Phase 2
14 Antimalarials Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Antiparasitic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Antiprotozoal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
18 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
19 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
20 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
21 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2
22 Folate Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
23 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
24
Alginic acid Approved, Investigational Phase 3 9005-32-7
25
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
26
Cefixime Approved, Investigational Phase 3 79350-37-1 54362 5362065
27 Coagulants Phase 3
28 Hemostatics Phase 3
29 Radiation-Protective Agents Phase 3
30 Amoxicillin-Potassium Clavulanate Combination Phase 3
31 beta-Lactamase Inhibitors Phase 3
32 Clavulanic Acid Phase 3
33 carnitine Nutraceutical Phase 3
34 Pharmaceutical Solutions Phase 1, Phase 2
35
Pancrelipase Approved, Investigational 53608-75-6
36
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
37 pancreatin
38 Anesthetics ,Not Applicable
39 Cephalosporins
40 Anti-Infective Agents, Local Not Applicable
41 Benzalkonium Compounds Not Applicable
42 Adjuvants, Anesthesia Not Applicable
43 Anesthetics, General Not Applicable
44 Anesthetics, Intravenous Not Applicable
45 Anti-Anxiety Agents Not Applicable
46 Central Nervous System Depressants Not Applicable
47 GABA Agents Not Applicable
48 GABA Modulators Not Applicable
49 Hypnotics and Sedatives Not Applicable
50 Neurotransmitter Agents Not Applicable

Interventional clinical trials:

(show all 30)
# 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 Phase III Study of Chondrocyte Alginate Gel Suspension in Pediatric Patients With Vesicoureteral Reflux Unknown status NCT00004487 Phase 3 chondrocyte-alginate gel suspension
5 L-carnitine on the Prevention of Renal Scarring in Acute Pyelonephritis Unknown status NCT02007889 Phase 3 L-carnitine
6 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3 Trimethoprim-Sulfamethoxazole;Placebo
7 Evaluation of the Efficiency of Autologous Adipocytes Graft in Endoscopic Treatment in Vesico-Renal Reflux in Children Recruiting NCT00367159 Phase 3
8 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
9 Antibiotic Prophylaxis in Children With Pyelonephritis Withdrawn NCT00752375 Phase 3 Trimethoprim Sulfamethoxazole;placebo
10 Can Probiotics be Used in the Prevention of Recurrent UTI in Paediatric Neurogenic Bladder Unknown status NCT02044965 Phase 1, Phase 2 Probiotic
11 Contrast Enhanced Ultrasound for Evaluation of Reflux Nephropathy Completed NCT02786810 Phase 2 Sulfur hexafluoride type-a lipid microspheres
12 CeVUS With Intravesical Administration of OPTISON TM (Trademark) in Children Active, not recruiting NCT02204917 Phase 1, Phase 2 OPTISON
13 Determination of Voiding Patterns of Children With Vesicoureteral Reflux Unknown status NCT00186199
14 Change of Urinary Metabolic Profile Secondary to a Congenital Urine Flow Impairment (UFI) by Nuclear Magnetic Resonance (NMR) and Metabolomics Analysis Unknown status NCT02792348
15 Protocol DIVAT-Uro Unknown status NCT01280708
16 Prospective Pediatric Vesicoureteral Reflux Surgery Database Completed NCT01373385
17 Efficacy of Endoscopic Subureteral Injection for Vesicoureteral Reflux in Adults With Decreased Bladder Compliance Completed NCT00815334 Not Applicable
18 Polyacrylate Polyalcohol Copolymer for Vesicoureteral Reflux Completed NCT01926353
19 Reflux in Spinal Cord Injury Patients With Neurogenic Lower Urinary Tract Dysfunction Completed NCT01297673
20 Usefulness of Antimicrobial Prophylaxis in Children With Isolated Vesico-Ureteral Reflux. Completed NCT00200616 Not Applicable
21 The Long Term Follow-Up Results Of The Direct Nipple Ureteroneocystostomy Technique Completed NCT01780493 Not Applicable
22 Sterile Single-use vs Reused Polyvinylchloride Catheter For Intermittent Catheterization In Neurogenic Bladder Completed NCT03424499 Not Applicable
23 DVD-Based Training Program in Self-Hypnosis for Children Recruiting NCT01483105 Not Applicable
24 Minimizing the Utilization of Voiding Cystourethrography for Patients With Antenatal Hydronephrosis Recruiting NCT02825485 Not Applicable
25 Parent Education and Medical Play: A Comparison of Psychological Preparation Strategies for Voiding Cystourethrogram Terminated NCT01578291 Not Applicable
26 Midazolam Effect in Children Undergoing Voiding Cystourethrogram (VCUG) Terminated NCT00894465 Not Applicable midazolam;placebo
27 Clinical Applications of Contrast-Enhanced Ultrasonography in Pediatric Population - Intravesicle Administration Withdrawn NCT02986477 Not Applicable
28 Study of Endoscopic Versus Open Surgery for Urinary Reflux Withdrawn NCT00830479 Not Applicable
29 Bacterial and Host Genetic Risk Factors in Acute Pyelonephritis Withdrawn NCT01137929
30 (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 29
2 Vesicoureteral Reflux 1 29

Anatomical Context for Vesicoureteral Reflux 1

MalaCards organs/tissues related to Vesicoureteral Reflux 1:

41
Kidney, Spinal Cord, Adipocyte, Testes, Neutrophil, Endothelial, Liver

Publications for Vesicoureteral Reflux 1

Articles related to Vesicoureteral Reflux 1:

(show top 50) (show all 920)
# Title Authors Year
1
Comparison of intravesical (Cohen) and extravesical (Lich-Gregoir) ureteroneocystostomy in the treatment of unilateral primary vesicoureteric reflux in children. ( 29146303 )
2018
2
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. ( 29351342 )
2018
3
Lower urinary tract dysfunction in pediatric patients after ureteroneocystostomy due to vesicoureteral reflux: Long-term follow-up. ( 29322636 )
2018
4
Endoscopic Treatment of Vesicoureteral Reflux in Infants. Can We Do It and Should We Do It? ( 28818534 )
2017
5
National Trends in the Management of Primary Vesicoureteral Reflux in Children. ( 28941917 )
2017
6
Vesicoureteral reflux is a phenotype, not a disease: A population-centered approach to pediatric urinary tract infection. ( 28630017 )
2017
7
Critical appraisal of the top-down approach for vesicoureteral reflux. ( 28612056 )
2017
8
Current status of robotic-assisted surgery for the treatment of vesicoureteral reflux in children. ( 27764016 )
2017
9
Application of the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement to publications on endoscopic treatment for vesicoureteral reflux. ( 28285865 )
2017
10
Vesicoureteral Reflux in Kidney Transplantation. ( 28617157 )
2017
11
Impact of Clinical Guidelines on Voiding Cystourethrogram Utilization and Vesicoureteral Reflux Incidence. ( 28866466 )
2017
12
Voiding Urosonography with Second-Generation Ultrasound Contrast Agent for Diagnosis of Vesicoureteric Reflux: First Local Pilot Study. ( 28507631 )
2017
13
Surgical Correction of Vesicoureteral Reflux. ( 28010982 )
2017
14
Aggressive diagnosis and treatment for posterior urethral valve as an etiology for vesicoureteral reflux or urge incontinence in children. ( 28612060 )
2017
15
Feasibility of superb microvascular imaging to detect high-grade vesicoureteral reflux in children with urinary tract infection. ( 28755057 )
2017
16
Featuring: Distal ureteral diameter in the resolution of vesicoureteral reflux. ( 28645618 )
2017
17
Personalized Treatment of Vesicoureteral Reflux: Where Are we Now? ( 28886348 )
2017
18
To screen or not to screen for vesicoureteral reflux in children with ureteropelvic junction obstruction: a systematic review. ( 27888411 )
2017
19
Imaging studies and biomarkers to detect clinically meaningful vesicoureteral reflux. ( 28612057 )
2017
20
Impact of using an evidence-based clinical guideline for the management of primary vesicoureteral reflux in children. ( 29087113 )
2017
21
"Watering Can" Ureterocele Puncture Technique Leads to Decreased Rates of De Novo Vesicoureteral Reflux and Subsequent Surgery With Durable Results. ( 28624552 )
2017
22
Paediatric Urology and the Dilemma of Low-quality Evidence for the Management of Common Urological Conditions (Vesicoureteral Reflux, Lower Urinary Tract Dysfunction, Undescended Testis) in Children. ( 28753880 )
2017
23
Decreased Identification of Vesicoureteral Reflux: A Cautionary Tale. ( 28848728 )
2017
24
Pediatric vesicoureteral reflux: Slow but steady steps. ( 28612054 )
2017
25
Management of vesicoureteral reflux in neurogenic bladder. ( 28612061 )
2017
26
Endoscopic correction of vesicoureteral reflux in children using polyacrylate-polyalcohol copolymer (Vantris): 5-years of prospective follow-up. ( 29104797 )
2017
27
Validation of the ureteral diameter ratio for predicting early spontaneous resolution of primary vesicoureteral reflux. ( 28256423 )
2017
28
Contrast-enhanced Voiding Urosonography for Vesicoureteral Reflux Diagnosis in Children. ( 29019761 )
2017
29
Contemporary Management of Vesicoureteral Reflux. ( 28918954 )
2017
30
Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. ( 28612055 )
2017
31
Vesicoureteral reflux and continuous prophylactic antibiotics. ( 28612058 )
2017
32
An Operative Technique for the Correction of Vesicoureteral Reflux. ( 28012771 )
2017
33
Comparison of results of endoscopic correction of vesicoureteral reflux in children using two bulking substances: Dextranomer/hyaluronic acid copolymer (Deflux) versus polyacrylate-polyalcohol copolymer (Vantris). ( 27593921 )
2016
34
Secondary surgery for vesicoureteral reflux after failed endoscopic injection: Comparison to primary surgery. ( 26966727 )
2016
35
Vesicoureteral reflux and the extracellular matrix connection. ( 27139901 )
2016
36
Color Doppler dynamic tissue perfusion measurement: a novel tool in the assessment of renal parenchymal perfusion in children with vesicoureteral reflux. ( 27279857 )
2016
37
Unilateral Blind Ending Ureter with Vesicoureteral Reflux and Associated Renal Agenesis -Multidetector Computed Tomography Imaging Findings. ( 27085570 )
2016
38
Polymorphisms in I+-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux. ( 26940096 )
2016
39
Utility Estimation for Pediatric Vesicoureteral Reflux: Methodological Considerations Using an Online Survey Platform. ( 27746280 )
2016
40
Parental Preference Assessment for Vesicoureteral Reflux Management in Children. ( 27974258 )
2016
41
Prenatal ultrasound diagnosis of 1 case of vesicoureteral reflux. ( 27429918 )
2016
42
ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. ( 27002985 )
2016
43
The Swedish infant high-grade reflux trial: Study presentation and vesicoureteral reflux outcome. ( 27889221 )
2016
44
Cross-fused renal ectopia associated with vesicoureteral reflux; a case report. ( 27689123 )
2016
45
Polyacrylamide Hydrogel as a Bulking Agent for the Endoscopic Treatment of Vesicoureteral Reflux: Long-Term Results and Safety. ( 27575606 )
2016
46
Uroepithelial thickening improves detection of vesicoureteral reflux in infants with prenatal hydronephrosis. ( 27342956 )
2016
47
Accuracy of ultrasonography in predicting vesicoureteral reflux in children: A meta-analysis. ( 27310111 )
2016
48
Reliability of grading of vesicoureteral reflux and other findings on voiding cystourethrography. ( 27666144 )
2016
49
Endoscopic treatment of grades IV and V vesicoureteral reflux with two bulking substances: Dextranomer hyaluronic acid copolymer versus polyacrylate polyalcohol copolymer in children. ( 27117052 )
2016
50
Diagnosis of vesicoureteral reflux according to the 1999 and 2011 guidelines of the Subcommittee on Urinary Tract Infection of the American Academy of Pediatrics. ( 27079390 )
2016

Variations for Vesicoureteral Reflux 1

ClinVar genetic disease variations for Vesicoureteral Reflux 1:

6
(show top 50) (show all 230)
# 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 GRCh37 Chromosome 3, 77147197: 77147197
8 ROBO2 NM_002942.4(ROBO2): c.94C> A (p.Arg32=) single nucleotide variant Benign rs6788280 GRCh38 Chromosome 3, 77098046: 77098046
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 Likely benign rs200131009 GRCh38 Chromosome 3, 77634966: 77634966
32 ROBO2 NM_002942.4(ROBO2): c.3857G> T (p.Arg1286Leu) single nucleotide variant Likely benign 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 GRCh37 Chromosome 3, 77695692: 77695692
40 ROBO2 NM_002942.4(ROBO2): c.*486A> T single nucleotide variant Likely benign rs181305605 GRCh38 Chromosome 3, 77646541: 77646541
41 ROBO2 NM_002942.4(ROBO2): c.*947C> T single nucleotide variant Likely benign rs550745516 GRCh37 Chromosome 3, 77696153: 77696153
42 ROBO2 NM_002942.4(ROBO2): c.*947C> T single nucleotide variant Likely benign rs550745516 GRCh38 Chromosome 3, 77647002: 77647002
43 ROBO2 NM_002942.4(ROBO2): c.*972T> C single nucleotide variant Uncertain significance rs886058879 GRCh37 Chromosome 3, 77696178: 77696178
44 ROBO2 NM_002942.4(ROBO2): c.*972T> C single nucleotide variant Uncertain significance rs886058879 GRCh38 Chromosome 3, 77647027: 77647027
45 ROBO2 NM_002942.4(ROBO2): c.*985C> A single nucleotide variant Likely benign rs114687906 GRCh37 Chromosome 3, 77696191: 77696191
46 ROBO2 NM_002942.4(ROBO2): c.*985C> A single nucleotide variant Likely benign rs114687906 GRCh38 Chromosome 3, 77647040: 77647040
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:

37
# 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 10.94 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 31)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.81 AGT AGTR2 SOX17
2 regulation of blood pressure GO:0008217 9.73 AGT AGTR2 REN
3 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.65 AGT AGTR2
4 positive regulation of blood vessel diameter GO:0097755 9.65 AGT AGTR2
5 regulation of vasoconstriction GO:0019229 9.64 AGT AGTR1
6 vasodilation GO:0042311 9.64 AGT AGTR2
7 nitric oxide mediated signal transduction GO:0007263 9.63 AGT AGTR2
8 cellular sodium ion homeostasis GO:0006883 9.62 AGT AGTR2
9 positive regulation of cellular protein metabolic process GO:0032270 9.62 AGT AGTR1
10 cell growth involved in cardiac muscle cell development GO:0061049 9.61 AGT AGTR2
11 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.61 AGT AGTR1
12 positive regulation of renal sodium excretion GO:0035815 9.6 AGT AGTR2
13 regulation of blood vessel diameter GO:0097746 9.59 AGTR1 AGTR2
14 mesonephros development GO:0001823 9.58 PAX2 REN
15 low-density lipoprotein particle remodeling GO:0034374 9.58 AGT AGTR1
16 angiotensin maturation GO:0002003 9.57 AGT REN
17 positive regulation of cholesterol esterification GO:0010873 9.55 AGT AGTR1
18 angiotensin-activated signaling pathway GO:0038166 9.54 AGTR1 AGTR2
19 positive regulation of NAD(P)H oxidase activity GO:0033864 9.52 AGT AGTR1
20 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.51 AGT AGTR1
21 metanephric distal convoluted tubule development GO:0072221 9.49 PAX2 UMOD
22 regulation of renal sodium excretion GO:0035813 9.48 AGT AGTR1
23 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.46 AGT AGTR2
24 positive regulation of metanephric glomerulus development GO:0072300 9.43 AGTR2 PAX2
25 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.4 AGT AGTR1
26 regulation of blood volume by renin-angiotensin GO:0002016 9.37 AGT REN
27 kidney development GO:0001822 9.35 AGT AGTR1 REN ROBO2 UPK3A
28 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 AGT AGTR2 PAX2
29 G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.32 AGT AGTR2
30 regulation of metanephros size GO:0035566 9.26 AGTR2 PAX2
31 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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