Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
VUR1
MCID: VSC019
MIFTS: 59

Vesicoureteral Reflux 1 (VUR1)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Vesicoureteral Reflux 1

About this section

MalaCards integrated aliases for Vesicoureteral Reflux 1:

Name: Vesicoureteral Reflux 1 56 29
Vesicoureteral Reflux 56 12 36 29 13 54 6 15 17
Vesico-Ureteral Reflux 12 43 71
Reflux, Vesicoureteral, Type 1 39
Reflux, Vesicoureteral 39
Vur1 56
Vur 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive renal damage if untreated


HPO:

31
vesicoureteral reflux 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:9620
OMIM 56 193000
OMIM Phenotypic Series 56 PS193000
KEGG 36 H01037
ICD9CM 34 593.7
MeSH 43 D014718
NCIt 49 C84467
SNOMED-CT 67 26836002
ICD10 32 N13.7 N13.70
MedGen 41 C4551858
SNOMED-CT via HPO 68 197811007 263681008
UMLS 71 C0042580
Sources

Summaries for Vesicoureteral Reflux 1

About this section
OMIM : 56 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 papillorenal syndrome and congenital anomalies of kidney and urinary tract 2, 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 Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Hyaluronic acid and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and prostate, 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.

KEGG : 36 Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent urinary tract infection, pyelonephritis, and renal scarring.

Wikipedia : 74 Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows... more...

Sources

Related Diseases for Vesicoureteral Reflux 1

About this section

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 260)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 34.7 UPK3A ROBO2 PAX2 EYA1
2 congenital anomalies of kidney and urinary tract 2 33.5 UPK3A UMOD ROBO2 PAX2 EYA1 AGTR2
3 familial vesicoureteral reflux 32.9 ROBO2 AGTR2
4 end stage renal failure 32.3 UMOD AGTR2 AGTR1 AGT
5 acute cystitis 32.1 UPK3A UPK1A UMOD MCU
6 urinary tract obstruction 31.9 UPK3A UPK2 UMOD PAX2 AGTR1
7 renal hypoplasia 31.8 ROBO2 PAX2 EYA1
8 multicystic dysplastic kidney 31.8 PAX2 AGTR2
9 renal hypodysplasia/aplasia 1 31.5 UPK3A ROBO2 PAX2 EYA1 AGTR2
10 hydronephrosis 31.4 UPK3A UPK2 UPK1B PAX2 MCU C12orf57
11 pyelitis 31.4 UPK3A UPK1A UMOD
12 chronic cystitis 31.3 UPK3A UPK2 UPK1A
13 transitional cell carcinoma 31.3 UPK3A UPK2 UPK1B UPK1A
14 renal dysplasia 31.3 PAX2 AGTR1 AGT
15 renal hypertension 31.2 AGTR2 AGTR1 AGT
16 ureteral disease 31.2 UPK3A ROBO2 PAX2 MCU AGTR1
17 cystitis 31.1 UPK3A UPK1A UMOD
18 posterior urethral valves 31.1 AGTR2 AGTR1 AGT
19 ureterocele 31.0 PAX2 MCU
20 exstrophy of bladder 31.0 UPK3A UPK1A
21 interstitial cystitis 31.0 UPK3A UPK1A UMOD
22 cakut 30.9 UPK3A UMOD ROBO2 PAX2 EYA1 AGTR2
23 interstitial nephritis 30.9 UMOD AGTR1 AGT
24 kidney disease 30.8 UMOD PAX2 EYA1 AMBP AGTR2 AGTR1
25 anuria 30.4 AGTR1 AGT
26 vesicoureteral reflux 2 12.9
27 vesicoureteral reflux 3 12.9
28 vesicoureteral reflux 8 12.9
29 vesicoureteral reflux 4 12.7
30 vesicoureteral reflux 5 12.7
31 vesicoureteral reflux 6 12.7
32 vesicoureteral reflux 7 12.6
33 vesicoureteral reflux, x-linked 12.6
34 kleefstra syndrome 11.7
35 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.4
36 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.4
37 urofacial syndrome 2 11.4
38 hypotonia, ataxia, and delayed development syndrome 11.4
39 autosomal recessive cutis laxa type i 11.4
40 collins pope syndrome 11.4
41 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut 11.3
42 urofacial syndrome 1 11.2
43 phelan-mcdermid syndrome 11.2
44 congenital anomalies of kidney and urinary tract 1 11.2
45 renal hypodysplasia/aplasia 3 11.2
46 acute pyelonephritis 10.9
47 plantar fascial fibromatosis 10.7 AGTR2 AGTR1 AGT
48 urethra cancer 10.6 UPK3A PAX2
49 branchiootorenal syndrome 10.6 UPK3A ROBO2 PAX2 EYA1
50 urethral diverticulum 10.6 UPK3A MCU

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


Acute Cystitis Bladder Neck Obstruction
Deficiency Anemia Hydronephrosis
Prostatic Hypertrophy

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



Diseases related to Vesicoureteral Reflux 1
Sources

Symptoms & Phenotypes for Vesicoureteral Reflux 1

About this section

Human phenotypes related to Vesicoureteral Reflux 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 31 HP:0000924
2 vesicoureteral reflux 31 HP:0000076

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Ureters:
vesicoureteral reflux

Clinical features from OMIM:

193000

UMLS symptoms related to Vesicoureteral Reflux 1:


dysuria, urgency of micturition

MGI Mouse Phenotypes related to Vesicoureteral Reflux 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.28 AGT AGTR1 AGTR2 EYA1 PAX2 ROBO2
Sources

Drugs & Therapeutics for Vesicoureteral Reflux 1

About this section

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
leucovorin Approved Phase 4 58-05-9 6006 143
3
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
4
Sulfamethoxazole Approved Phase 4 723-46-6 5329
5
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7 Protective Agents Phase 4
8 Viscosupplements Phase 4
9 Anti-Bacterial Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11 Anti-Infective Agents Phase 4
12 Renal Agents Phase 4
13 Cytochrome P-450 Enzyme Inhibitors Phase 4
14 Folic Acid Antagonists Phase 4
15 Antiparasitic Agents Phase 4
16 Antiprotozoal Agents Phase 4
17 Vitamin B Complex Phase 4
18 Vitamin B9 Phase 4
19 Anti-Infective Agents, Urinary Phase 4
20 Folate Phase 4
21 Antimalarials Phase 4
22 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
23 Antitubercular Agents Phase 4
24
Mirabegron Approved Phase 3 223673-61-8 9865528
25
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
26
Oxybutynin Approved, Investigational Phase 3 5633-20-5 4634
27
Cefixime Approved, Investigational Phase 3 79350-37-1 54362 5362065
28
Clavulanate Approved, Vet_approved Phase 3 58001-44-8 5280980
29
BCG vaccine Investigational Phase 3
30 carnitine Phase 3
31 Pharmaceutical Solutions Phase 3
32 Adjuvants, Immunologic Phase 3
33 Immunologic Factors Phase 3
34 Adrenergic Agonists Phase 3
35 Adrenergic beta-3 Receptor Agonists Phase 3
36 Adrenergic beta-Agonists Phase 3
37 Adrenergic Agents Phase 3
38 Muscarinic Antagonists Phase 3
39 Cholinergic Antagonists Phase 3
40 Autonomic Agents Phase 3
41 Mandelic Acids Phase 3
42 Parasympatholytics Phase 3
43 Alkylating Agents Phase 3
44 Vaccines Phase 3
45 Mitomycins Phase 3
46 Amoxicillin-Potassium Clavulanate Combination Phase 3
47 beta-Lactamase Inhibitors Phase 3
48 incobotulinumtoxinA Phase 2
49 Neurotransmitter Agents Phase 2
50 Cholinergic Agents Phase 2

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 A Prospective Study Comparing the Success Rate of Injection of Dextranomer /Hyaluronic Acid (DefluxR) Versus Polyacrylate Polyalcohol (VantrisR) for Treatment of Bilateral Similar Grade Vesicoureteral Reflux in Children Unknown status NCT02271035 Phase 4 Deflux;Vantris
2 Evaluation of the Effectiveness of Antibiotic Prophylaxis in Children With a History of Upper Urinary Tract Infections:a Multicentre Randomised Study Unknown status NCT00156546 Phase 4 antibiotic to reduce the recurrence of infection
3 Antibiotic Prophylaxis After Acute Pyelonephritis for Prevention of Urinary Tract Infections 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 The Effect of L-carnitine on the Prevention of Renal Scarring in Children With 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 Add-on Mirabegron in Pediatric Patients With Refractory Overactive Bladder Completed NCT02476175 Phase 3 Mirabegron
8 Prospective Pilot Study of Mirabegron in Pediatric Patients With Overactive Bladder Completed NCT02468830 Phase 3 mirabegron
9 Efficacy and Tolerability of Fesoterodine and Oxybutynin XL for Overactive Bladder Syndrome in Children: a Comparative Study. Completed NCT02327936 Phase 3 Fesoterodine;Oxybutynin XL
10 Efficacy and Tolerability of Fesoterodine for Overactive Bladder Syndrome in Children: an Extension Study. Completed NCT02614482 Phase 3 Fesoterodine
11 Sequential Bacillus Calmette-Guérin and Electromotive Mitomycin-C Versus Bacillus Calmette-Guérin Alone for High Risk Superficial Bladder Cancer: a Prospective Randomised Study Completed NCT01442519 Phase 3 electromotive mitomycin
12 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
13 Evaluation of the Efficiency of Autologous Adipocytes Graft in Endoscopic Treatment in Vesico-Renal Reflux in Children Recruiting NCT00367159 Phase 3
14 Improved Diagnosis and Prognostication of Hypoxic Ischemic Injury in Neonates and Infants Using Contrast-Enhanced Ultrasound Recruiting NCT03549520 Phase 3 Sulfur hexafluoride lipid-type A microspheres
15 A Randomized Controlled Trial of Antibiotic Prophylaxis in Children With Pyelonephritis in the Abscence of Vesicoureteral Reflux Withdrawn NCT00752375 Phase 3 Trimethoprim Sulfamethoxazole;placebo
16 Contrast Enhanced Voiding Urosonography (ceVUS) With the Intravesical Administration of the Ultrasound Contrast Agent OPTISON TM (Trademark) for Vesicoureteral Reflux Detection and Urethral Imaging in Children. Completed NCT02204917 Phase 1, Phase 2 OPTISON
17 Contrast Enhanced Ultrasound for Evaluation of Reflux Nephropathy Completed NCT02786810 Phase 2 Sulfur hexafluoride type-a lipid microspheres
18 UTI Prophylaxis Using Bacterial Interference Following SCI Completed NCT00037921 Phase 2
19 Comparison of the Therapeutic Effects of Different Injection Number of the Same Dose of Botulinum Toxin A on Overactive Bladder Syndrome Completed NCT01657409 Phase 2 BoNT-A (10 injection);BoNT-A (20 injection);BoNT-A (40 injection)
20 Botulinum Toxin A Treatment of Detrusor External Sphincter Dyssynergia During Early Spinal Cord Injury (Protocol #H-20344) Terminated NCT00711087 Phase 2 BOTOX-A
21 Botulinum-A Toxin Injection for Detrusor Hyperreflexia in Spinal Cord Injury: A Non-Surgical Approach. Withdrawn NCT00262496 Phase 2 Botox
22 Radiation-Free Technique for Evaluating Renal Scarring (RAFTERS) Not yet recruiting NCT03653702 Phase 1 Lumason
23 Determination of Voiding Patterns of Children With Vesicoureteral Reflux Unknown status NCT00186199
24 Identification of Urinary Cytokines in Patients With Overactive Bladder (OAB) Unknown status NCT00868621
25 Renal Outcome in Children With Congenital Solitary Kidney: a Longitudinal Prognostic Study Unknown status NCT01831141
26 Efficacy of Endoscopic Subureteral Injection for Vesicoureteral Reflux in Adults With Decreased Bladder Compliance Completed NCT00815334
27 Tissue Bulking Agent -Polyacrylate Polyalcohol Copolymer for Endoscopic Correction of Vesicoureteral Reflux in Children: A Comparative Study Completed NCT01926353
28 The Long Term Follow-Up Results Of The Direct Nipple Ureteroneocystostomy Technique: A Prospective Study Completed NCT01780493
29 Prospective Pediatric Vesicoureteral Reflux Surgery Database Completed NCT01373385
30 Vesico-ureteral Reflux in a Contemporary Series of Spinal Cord Injury Patients With Neurogenic Lower Urinary Tract Dysfunction Completed NCT01297673
31 Antimicrobial Prophylaxis in Children With Isolated Vesico-Ureteral Reflux. A Randomised Prospective Study of Continuous Low Dose of Trimethoprim-Sulfamethoxazole Versus Surveillance. Completed NCT00200616
32 Neuro-urological Outcome After Spinal Cord Injury Completed NCT01297660
33 Evaluation of Tissue Regeneration Potential (in the Skin) of Child's Adipose Cells During the Development. Completed NCT02779205
34 Role of Clinical and Urodynamic Risk Factors for Recurrent Urinary Tract Infection in 5-18 Years Old Children Completed NCT00528476
35 Randomized, Double-Blinded, Placebo-Controlled Trial of Laxatives for Children With Urge Syndrome Completed NCT00765557 Miralax
36 DVD-Based Training Program in Self-Hypnosis for Children: A Randomized Clinical Trial Recruiting NCT01483105
37 Is Routine Urinary Bladder Catheterization Necessary After Ureteroscopy and Double J Stent Placement? Recruiting NCT03713411
38 Non-invasive Nerve Stimulation for Inhibition of Bladder Incontinence in Spinal Cord Injured Subjects. Active, not recruiting NCT03877432
39 BP-CATCH: Boosting Primary Care Awareness and Treatment of Childhood Hypertension Enrolling by invitation NCT03783650
40 The Natural History of Minimally Symptomatic Nonobstructing Calyceal Stones Not yet recruiting NCT04071340
41 A Randomized, Double-Blind, Placebo-Controlled Study Examining the Efficacy of Oral Midazolam in Reducing Anxiety in Children Undergoing Voiding Cystourethrogram Terminated NCT00894465 midazolam;placebo
42 Parent Education and Medical Play: A Comparison of Psychological Preparation Strategies for Voiding Cystourethrogram Terminated NCT01578291
43 A Randomized Trial of Endoscopic vs. Open Anti-Reflux Surgery For Treatment of Low-Grade Vesicoureteral Reflux: Surgical Treatment of Reflux: Endoscopic vs. Traditional CHoices (STRETCH) Study Withdrawn NCT00830479
44 Bacterial and Host Genetic Risk Factors That Predispose Children to Acute Pyelonephritis and Renal Scarring Withdrawn NCT01137929
45 Clinical Applications of Contrast-Enhanced Ultrasonography in Pediatric Population - Intravesicle Administration Withdrawn NCT02986477
46 Ultrasound Based Acoustic Radiation Force Impulse (ARFI)Shear Wave Velocity Imaging (SVI)of the Kidneys in Pediatric Patients With Vesicoureteral Reflux Withdrawn NCT01781819

Search NIH Clinical Center for Vesicoureteral Reflux 1

Cochrane evidence based reviews: vesico-ureteral reflux

Sources

Genetic Tests for Vesicoureteral Reflux 1

About this section

Genetic tests related to Vesicoureteral Reflux 1:

# Genetic test Affiliating Genes
1 Vesicoureteral Reflux 29
2 Vesicoureteral Reflux 1 29
Sources

Anatomical Context for Vesicoureteral Reflux 1

About this section

MalaCards organs/tissues related to Vesicoureteral Reflux 1:

40
Kidney, Spinal Cord, Prostate, Testes, Thyroid, Neutrophil, Smooth Muscle
Sources

Publications for Vesicoureteral Reflux 1

About this section

Articles related to Vesicoureteral Reflux 1:

(show top 50) (show all 4979)
# Title Authors PMID Year
1
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. 54 61 56
7795640 1995
2
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec. 61 56
18273880 2008
3
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. 61 56
17357069 2007
4
Natural history of vesicoureteral reflux in siblings. 61 56
8863620 1996
5
Sibling reflux: a dual center retrospective study. 61 56
8683758 1996
6
The transmission of vesicoureteral reflux from parent to child. 61 56
1433624 1992
7
Is it practical to screen for familial vesicoureteral reflux within a private pediatric practice? 61 56
1302456 1992
8
Detecting vesico-ureteral reflux in asymptomatic siblings of children with reflux by direct radionuclide cystography. 61 56
1915489 1991
9
Vesicoureteral reflux in asymptomatic siblings of patients with known reflux: radionuclide cystography. 61 56
3025806 1987
10
Familial occurrence of nonobstructive, noninfectious vesicoureteral reflux with renal scarring. 61 56
1127524 1975
11
Family study of vesicoureteral reflux. 61 56
1127803 1975
12
Familial primary vesicoureteral reflux. 61 56
1132162 1975
13
Familial vesicoureteral reflux. 61 56
4767170 1973
14
A theory on the nature of transmission of congenital vesicoureteral reflux. 61 56
5047411 1972
15
Familial vesicoureteral reflux. 61 56
4922400 1970
16
Renal aplasia in humans is associated with RET mutations. 56
18252215 2008
17
A genome-wide scan for genes involved in primary vesicoureteric reflux. 56
17660461 2007
18
Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux. 56
17497182 2007
19
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. 56
10739767 2000
20
Vesico-ureteral reflux: a genetic condition? 56
9578958 1998
21
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. 56
9598733 1998
22
Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. 56
9067426 1996
23
Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? 56
7856668 1994
24
Vesicoureteric reflux: segregation analysis. 56
3993683 1985
25
Reflux nephropathy in the adult. 56
6744883 1984
26
Identical twins with identical vesicoureteric reflux: chronic pyelonephritis in one. 56
6404409 1983
27
Screening of vesicoureteral reflux in pediatric patients with kidney transplantation showing non-specific interstitial fibrosis and tubular atrophy with interstitial Tamm-Horsfall protein deposits in protocol allograft biopsy. 54 61
19594587 2009
28
Uroplakin III is not a major candidate gene for primary vesicoureteral reflux. 54 61
15523493 2005
29
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment. 54 61
16259316 2005
30
Renin-angiotensin system polymorphisms in Taiwanese primary vesicoureteral reflux. 54 61
15045574 2004
31
No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. 54 61
14713856 2004
32
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. 54 61
14566649 2003
33
Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. 54 61
12187255 2002
34
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. 54 61
10533062 1999
35
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 54 61
9783702 1998
36
[Renal function in children with reflux nephropathy followed up more than 10 years after disappearance of vesicoureteral reflux: usefulness of alpha 1-microglobulin as a marker to predict the prognosis of these children]. 54 61
8969545 1996
37
Urinary N-acetyl-beta-glucosaminidase as a screening technique for vesicoureteral reflux. 54 61
8154076 1994
38
[Studies on reflux nephropathy--renal tubular and glomerular damage evaluated by various urinary indices]. 54 61
7681890 1993
39
Urinary levels of renal tubular enzyme N-acetyl-beta-D-glucosaminidase in relation to grade of vesicoureteral reflux. 54 61
1861320 1991
40
Urinary Tamm-Horsfall protein excretion in patients with primary vesicoureteral reflux. 54 61
1915538 1991
41
Urinary N-acetyl-beta-glucosaminidase and the selection of children for radiologic evaluation after urinary tract infection. 54 61
2371096 1990
42
Laboratory Findings After Urinary Tract Infection and Antimicrobial Prophylaxis in Children With Vesicoureteral Reflux. 61
31888378 2020
43
Primary Vesicoureteral reflux and chronic kidney disease in pediatric population. What we have learnt? 61
32022517 2020
44
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. 61
31538321 2020
45
Antibiotic Prophylaxis Prescribing Patterns of Pediatric Urologists for Children with Vesicoureteral Reflux and other Congenital Anomalies of the Kidney and Urinary Tract. 61
31758980 2020
46
Clinical characteristics and outcome of childhood vesicoureteral reflux. 61
31984697 2020
47
Re: A Meta-Analysis of the Incidence and Fate of Contralateral Vesicoureteral Reflux in Unilateral Multicystic Dysplastic Kidney. 61
31710541 2020
48
Increased rates of vesicoureteral reflux in mice from deletion of Dicer in the peri-Wolffian duct stroma. 61
32015493 2020
49
Bladder/bowel dysfunction at school age is seen in children with high-grade vesicoureteral reflux and lower urinary tract dysfunction in infancy. 61
31420891 2020
50
Updated Italian recommendations for the diagnosis, treatment and follow-up of the first febrile urinary tract infection in young children. 61
31454101 2020
Sources

Variations for Vesicoureteral Reflux 1

About this section

ClinVar genetic disease variations for Vesicoureteral Reflux 1:

6 (show top 50) (show all 118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C12orf57 NM_138425.4(C12orf57):c.53-2A>GSNV Pathogenic 242885 rs1114167293 12:7053637-7053637 12:6944474-6944474
2 46;X;inv(X)(p11.4q24)dninversion Pathogenic 267883
3 MED13L NM_015335.4(MED13L):c.1971del (p.Asp657fs)deletion Pathogenic 523512 rs1555247805 12:116446247-116446247 12:116008442-116008442
4 VWA2 NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys)SNV Likely pathogenic 684663 10:116046036-116046036 10:114286277-114286277
5 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)deletion Likely pathogenic 523499 rs1554844486 10:76784742-76784745 10:75024984-75024987
6 ROBO2 NM_001128929.3(ROBO2):c.2479C>T (p.Arg827Trp)SNV Conflicting interpretations of pathogenicity 224345 rs188582283 3:77629200-77629200 3:77580049-77580049
7 ROBO2 NM_001128929.3(ROBO2):c.3905G>T (p.Arg1302Leu)SNV Conflicting interpretations of pathogenicity 346711 rs200131009 3:77684117-77684117 3:77634966-77634966
8 ROBO2 NM_001128929.3(ROBO2):c.4112G>A (p.Arg1371His)SNV Uncertain significance 346715 rs771581041 3:77693984-77693984 3:77644833-77644833
9 ROBO2 NM_001128929.3(ROBO2):c.*985C>TSNV Uncertain significance 346725 rs114687906 3:77696191-77696191 3:77647040-77647040
10 ROBO2 NM_001128929.3(ROBO2):c.*972T>CSNV Uncertain significance 346723 rs886058879 3:77696178-77696178 3:77647027-77647027
11 ROBO2 NM_001128929.3(ROBO2):c.*2195C>TSNV Uncertain significance 346747 rs372439657 3:77697401-77697401 3:77648250-77648250
12 ROBO2 NM_001128929.3(ROBO2):c.*3894A>GSNV Uncertain significance 346773 rs886058897 3:77699100-77699100 3:77649949-77649949
13 ROBO2 NM_001128929.3(ROBO2):c.110-57710C>TSNV Uncertain significance 346668 rs886058874 3:77089455-77089455 3:77040304-77040304
14 ROBO2 NM_001128929.3(ROBO2):c.3520C>T (p.Arg1174Trp)SNV Uncertain significance 346706 rs747971442 3:77666842-77666842 3:77617691-77617691
15 ROBO2 NM_001128929.3(ROBO2):c.2055A>C (p.Arg685=)SNV Uncertain significance 346695 rs886058877 3:77623685-77623685 3:77574534-77574534
16 46;XY;t(2;13)(p25.2;q31.3)dnTranslocation Uncertain significance 267864
17 ROBO2 NM_001128929.3(ROBO2):c.1205C>T (p.Ala402Val)SNV Uncertain significance 346684 rs199705591 3:77600066-77600066 3:77550915-77550915
18 ROBO2 NM_001128929.3(ROBO2):c.1742G>C (p.Ser581Thr)SNV Uncertain significance 346688 rs761048204 3:77614116-77614116 3:77564965-77564965
19 ROBO2 NM_001128929.3(ROBO2):c.1881T>C (p.Asp627=)SNV Uncertain significance 346690 rs757943652 3:77614255-77614255 3:77565104-77565104
20 ROBO2 NM_001128929.3(ROBO2):c.2020G>A (p.Val674Ile)SNV Uncertain significance 346694 rs372550683 3:77623650-77623650 3:77574499-77574499
21 ROBO2 NM_001128929.3(ROBO2):c.*3313T>CSNV Uncertain significance 346766 rs538973204 3:77698519-77698519 3:77649368-77649368
22 ROBO2 NM_001128929.3(ROBO2):c.3105A>G (p.Gln1035=)SNV Uncertain significance 346703 rs544425952 3:77651563-77651563 3:77602412-77602412
23 ROBO2 NM_001128929.3(ROBO2):c.*166T>CSNV Uncertain significance 346718 rs886058878 3:77695372-77695372 3:77646221-77646221
24 ROBO2 NM_001128929.3(ROBO2):c.*1075T>CSNV Uncertain significance 346730 rs886058881 3:77696281-77696281 3:77647130-77647130
25 ROBO2 NM_001128929.3(ROBO2):c.*1435C>ASNV Uncertain significance 346735 rs886058882 3:77696641-77696641 3:77647490-77647490
26 ROBO2 NM_001128929.3(ROBO2):c.*1579A>GSNV Uncertain significance 346737 rs886058884 3:77696785-77696785 3:77647634-77647634
27 ROBO2 NM_001128929.3(ROBO2):c.*1915C>TSNV Uncertain significance 346742 rs886058888 3:77697121-77697121 3:77647970-77647970
28 ROBO2 NM_001128929.3(ROBO2):c.*2104A>GSNV Uncertain significance 346746 rs757318528 3:77697310-77697310 3:77648159-77648159
29 ROBO2 NM_001128929.3(ROBO2):c.*2370C>TSNV Uncertain significance 346750 rs886058889 3:77697576-77697576 3:77648425-77648425
30 ROBO2 NM_001128929.3(ROBO2):c.*3276T>CSNV Uncertain significance 346764 rs886058892 3:77698482-77698482 3:77649331-77649331
31 ROBO2 NM_001128929.3(ROBO2):c.*3809A>CSNV Uncertain significance 346771 rs886058896 3:77699015-77699015 3:77649864-77649864
32 ROBO2 NM_001128929.3(ROBO2):c.110-57790A>GSNV Uncertain significance 346666 rs886058873 3:77089375-77089375 3:77040224-77040224
33 ROBO2 NM_001128929.3(ROBO2):c.110-57394C>TSNV Uncertain significance 346672 rs886058875 3:77089771-77089771 3:77040620-77040620
34 ROBO2 NM_001128929.3(ROBO2):c.3821C>T (p.Thr1274Ile)SNV Uncertain significance 346710 rs772069288 3:77684033-77684033 3:77634882-77634882
35 ROBO2 NM_001128929.3(ROBO2):c.110-57799C>GSNV Uncertain significance 346665 rs886058872 3:77089366-77089366 3:77040215-77040215
36 ROBO2 NM_001128929.3(ROBO2):c.*1013C>TSNV Uncertain significance 346726 rs886058880 3:77696219-77696219 3:77647068-77647068
37 ROBO2 NM_001128929.3(ROBO2):c.606A>G (p.Gly202=)SNV Uncertain significance 346679 rs886058876 3:77530261-77530261 3:77481110-77481110
38 ROBO2 NM_001128929.3(ROBO2):c.*1245T>ASNV Uncertain significance 346733 rs559415425 3:77696451-77696451 3:77647300-77647300
39 ROBO2 NM_001128929.3(ROBO2):c.*1516G>ASNV Uncertain significance 346736 rs886058883 3:77696722-77696722 3:77647571-77647571
40 ROBO2 NM_001128929.3(ROBO2):c.*1888C>TSNV Uncertain significance 346740 rs886058886 3:77697094-77697094 3:77647943-77647943
41 ROBO2 NM_001128929.3(ROBO2):c.1357C>T (p.Leu453=)SNV Uncertain significance 346686 rs773786584 3:77607172-77607172 3:77558021-77558021
42 ROBO2 NM_001128929.3(ROBO2):c.1897+15T>CSNV Uncertain significance 346692 rs770007839 3:77614286-77614286 3:77565135-77565135
43 ROBO2 NM_001128929.3(ROBO2):c.*1894A>GSNV Uncertain significance 346741 rs886058887 3:77697100-77697100 3:77647949-77647949
44 ROBO2 NM_001128929.3(ROBO2):c.*2355T>ASNV Uncertain significance 346749 rs766386654 3:77697561-77697561 3:77648410-77648410
45 ROBO2 NM_001128929.3(ROBO2):c.*3536G>ASNV Uncertain significance 346767 rs886058894 3:77698742-77698742 3:77649591-77649591
46 ROBO2 NM_001128929.3(ROBO2):c.3711C>T (p.Ala1237=)SNV Uncertain significance 346708 rs774727452 3:77671486-77671486 3:77622335-77622335
47 ROBO2 NM_001128929.3(ROBO2):c.4183+5G>CSNV Uncertain significance 346716 rs373371736 3:77694060-77694060 3:77644909-77644909
48 ROBO2 NM_001128929.3(ROBO2):c.*2570C>ASNV Uncertain significance 346751 rs886058890 3:77697776-77697776 3:77648625-77648625
49 ROBO2 NM_001128929.3(ROBO2):c.*2886A>CSNV Uncertain significance 346758 rs886058891 3:77698092-77698092 3:77648941-77648941
50 ROBO2 NM_001128929.3(ROBO2):c.*2964A>TSNV Likely benign 346759 rs1163749 3:77698170-77698170 3:77649019-77649019
Sources

Expression for Vesicoureteral Reflux 1

About this section
Search GEO for disease gene expression data for Vesicoureteral Reflux 1.
Sources

Pathways for Vesicoureteral Reflux 1

About this section

Pathways related to Vesicoureteral Reflux 1 according to KEGG:

36
# 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
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 60
Show member pathways
 10.7 AGTR2 AGTR1 AGT
Sources

GO Terms for Vesicoureteral Reflux 1

About this section

Cellular components related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 UPK3A UPK2 UPK1B UPK1A UMOD ROBO2
2 apical plasma membrane GO:0016324 9.35 UPK3A UPK2 UPK1B UPK1A UMOD
3 apical plasma membrane urothelial plaque GO:0120001 8.8 UPK3A UPK1B UPK1A

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.78 UPK3A AGTR1 AGT
2 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.64 AGTR2 AGT
3 positive regulation of blood vessel diameter GO:0097755 9.64 AGTR2 AGT
4 cochlea morphogenesis GO:0090103 9.63 PAX2 EYA1
5 regulation of vasoconstriction GO:0019229 9.63 AGTR1 AGT
6 regulation of blood vessel diameter GO:0097746 9.62 AGTR2 AGTR1
7 nitric oxide mediated signal transduction GO:0007263 9.62 AGTR2 AGT
8 vasodilation GO:0042311 9.61 AGTR2 AGT
9 positive regulation of cellular protein metabolic process GO:0032270 9.6 AGTR1 AGT
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.59 AGTR1 AGT
11 cellular sodium ion homeostasis GO:0006883 9.58 AGTR2 AGT
12 cell growth involved in cardiac muscle cell development GO:0061049 9.58 AGTR2 AGT
13 positive regulation of renal sodium excretion GO:0035815 9.57 AGTR2 AGT
14 low-density lipoprotein particle remodeling GO:0034374 9.56 AGTR1 AGT
15 angiotensin-activated signaling pathway GO:0038166 9.55 AGTR2 AGTR1
16 positive regulation of cholesterol esterification GO:0010873 9.54 AGTR1 AGT
17 positive regulation of NAD(P)H oxidase activity GO:0033864 9.52 AGTR1 AGT
18 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.51 AGTR1 AGT
19 mesodermal cell fate specification GO:0007501 9.49 PAX2 EYA1
20 metanephric distal convoluted tubule development GO:0072221 9.48 UMOD PAX2
21 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.46 AGTR2 AGT
22 regulation of renal sodium excretion GO:0035813 9.43 AGTR1 AGT
23 positive regulation of metanephric glomerulus development GO:0072300 9.4 PAX2 AGTR2
24 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.37 AGTR1 AGT
25 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 PAX2 AGTR2 AGT
26 regulation of metanephros size GO:0035566 9.32 PAX2 AGTR2
27 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.26 AGTR2 AGT
28 epithelial cell differentiation GO:0030855 9.26 UPK3A UPK2 UPK1B UPK1A
29 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGTR2 AGTR1 AGT

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 AGTR2 AGTR1
Sources

Sources for Vesicoureteral Reflux 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....