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VUR1
MCID: VSC019
MIFTS: 56

Vesicoureteral Reflux 1 (VUR1)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Vesicoureteral Reflux 1

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MalaCards integrated aliases for Vesicoureteral Reflux 1:

Name: Vesicoureteral Reflux 1 57 29
Vesicoureteral Reflux 57 12 36 29 13 54 6 15 17
Vesico-Ureteral Reflux 12 44 70
Reflux, Vesicoureteral, Type 1 39
Reflux, Vesicoureteral 39
Vur1 57
Vur 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 193000
OMIM Phenotypic Series 57 PS193000
KEGG 36 H01037
ICD9CM 34 593.7
MeSH 44 D014718
NCIt 50 C84467
SNOMED-CT 67 197811007
ICD10 32 N13.7
MedGen 41 C4551858
SNOMED-CT via HPO 68 263681008
UMLS 70 C0042580
Sources

Summaries for Vesicoureteral Reflux 1

About this section
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) (Updated 20-May-2021)

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 EBF3 (EBF Transcription Factor 3), and among its related pathways/superpathways are Wnt signaling pathway and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Levoleucovorin and Trimethoprim have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and thyroid, 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 : 73 Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows... more...

Sources

Related Diseases for Vesicoureteral Reflux 1

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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 248)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 33.4 UPK3A ROBO2 PAX2
2 congenital anomalies of kidney and urinary tract 2 32.5 UPK3A UMOD ROBO2 PAX2 AGTR2
3 familial vesicoureteral reflux 32.0 VWA2 ROBO2 NIPBL MED13L KAT6B EBF3
4 end stage renal disease 31.6 UMOD PAX2 AGTR1 AGT
5 urinary tract infection 31.6 UMOD EBF3
6 urinary tract obstruction 31.6 UPK3A UMOD PAX2
7 renal hypoplasia 31.5 ROBO2 PAX2 KAT6B
8 multicystic dysplastic kidney 31.4 PAX2 AGTR2
9 hydronephrosis 31.0 UPK3A PAX2 C12orf57 AMBP AGTR2
10 renal hypodysplasia/aplasia 1 31.0 UPK3A UMOD ROBO2 PAX2 EBF3 AGTR2
11 ureteral disease 30.8 UPK3A ROBO2 PAX2 AGTR1
12 renal dysplasia 30.7 PAX2 EBF3 AGTR1 AGT
13 interstitial nephritis 30.6 UMOD AGTR1 AGT
14 oligohydramnios 30.6 PAX2 AGTR1 AGT
15 posterior urethral valves 30.5 AGTR2 AGTR1 AGT
16 cakut 30.4 UPK3A UMOD ROBO2 PAX2 AGTR2 AGTR1
17 kidney disease 30.3 UMOD PAX2 AMBP AGTR2 AGTR1 AGT
18 anuria 30.0 AGTR1 AGT
19 vesicoureteral reflux 2 11.7
20 vesicoureteral reflux 3 11.7
21 vesicoureteral reflux 8 11.7
22 vesicoureteral reflux 4 11.4
23 vesicoureteral reflux 5 11.4
24 vesicoureteral reflux 6 11.4
25 vesicoureteral reflux 7 11.4
26 vesicoureteral reflux, x-linked 11.4
27 kleefstra syndrome 11.3
28 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.1
29 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.1
30 urofacial syndrome 2 11.1
31 autosomal recessive cutis laxa type i 11.1
32 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut 11.1
33 urofacial syndrome 1 10.9
34 phelan-mcdermid syndrome 10.9
35 congenital anomalies of kidney and urinary tract 1 10.9
36 renal hypodysplasia/aplasia 3 10.9
37 acute pyelonephritis 10.8
38 isolated pierre robin sequence 10.5 MED13L EBF3
39 constipation 10.5
40 low compliance bladder 10.5
41 aldosterone-producing adenoma 10.5 AGTR2 AGTR1
42 renal tubular dysgenesis 10.5 EBF3 AGTR1 AGT
43 plantar fascial fibromatosis 10.5 AGTR2 AGTR1 AGT
44 pierre robin syndrome 10.5 MED13L EBF3
45 chronic kidney disease 10.5
46 spinal cord injury 10.5
47 meningococcal infection 10.4 AGTR1 AGT
48 obstructive nephropathy 10.4 AMBP AGTR2 AGT
49 potter's syndrome 10.4 PAX2 AGT
50 bladder clear cell adenocarcinoma 10.4 UPK3A PAX2

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


Acute Cystitis Bladder Neck Obstruction
Chronic Kidney Disease 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

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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®:

57 (Updated 20-May-2021)
Genitourinary Ureters:
vesicoureteral reflux

Clinical features from OMIM®:

193000 (Updated 20-May-2021)

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 renal/urinary system MP:0005367 9.17 AGT AGTR1 AGTR2 PAX2 ROBO2 UMOD
Sources

Drugs & Therapeutics for Vesicoureteral Reflux 1

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
2
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
3
Sulfamethoxazole Approved Phase 4 723-46-6 5329
4
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6 Antibiotics, Antitubercular Phase 4
7 Vitamin B9 Phase 4
8 Folic Acid Antagonists Phase 4
9 Anti-Bacterial Agents Phase 4
10 Antiparasitic Agents Phase 4
11 Vitamin B Complex Phase 4
12 Folate Phase 4
13 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
14 Anti-Infective Agents Phase 4
15 Antiprotozoal Agents Phase 4
16 Antimalarials Phase 4
17 Cytochrome P-450 Enzyme Inhibitors Phase 4
18
Cefixime Approved, Investigational Phase 3 79350-37-1 54362 5362065
19 Clavulanic Acids Phase 3
20 Amoxicillin-Potassium Clavulanate Combination Phase 3
21 beta-Lactamase Inhibitors Phase 3
22 Pharmaceutical Solutions Phase 1, Phase 2
23
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
24
Midazolam Approved, Illicit 59467-70-8 4192
25 Adjuvants, Immunologic
26 Viscosupplements
27 Protective Agents
28 Immunologic Factors
29 Cephalosporins
30 Anesthetics
31 Hypnotics and Sedatives
32 Psychotropic Drugs
33 Neurotransmitter Agents
34 Anesthetics, General
35 Anesthetics, Intravenous
36 Anti-Anxiety Agents
37 GABA Modulators

Interventional clinical trials:

(show all 26)
# 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 Antibiotic Prophylaxis After Acute Pyelonephritis for Prevention of Urinary Tract Infections in Children With Vesico-Ureteral Reflux. Completed NCT00382343 Phase 4 Sulfamethoxazole/trimethoprim
3 Phase III Study of Chondrocyte Alginate Gel Suspension in Pediatric Patients With Vesicoureteral Reflux Unknown status NCT00004487 Phase 3 chondrocyte-alginate gel suspension
4 Evaluation of the Efficiency of Autologous Adipocytes Graft in Endoscopic Treatment in Vesico-Renal Reflux in Children Unknown status NCT00367159 Phase 3
5 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3 Trimethoprim-Sulfamethoxazole;Placebo
6 Antibiotic Prophylaxis and Renal Damage In Congenital Abnormalities of the Kidney and Urinary Tract Active, not recruiting NCT02021006 Phase 3 nitrofurantoin;Amoxicillin-Potassium Clavulanate Combination;Trimethoprim/sulfamethoxazole;Cefixime
7 A Randomized Controlled Trial of Antibiotic Prophylaxis in Children With Pyelonephritis in the Abscence of Vesicoureteral Reflux Withdrawn NCT00752375 Phase 3 Trimethoprim Sulfamethoxazole;placebo
8 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
9 Contrast Enhanced Ultrasound for Evaluation of Reflux Nephropathy Completed NCT02786810 Phase 2 Sulfur hexafluoride type-a lipid microspheres
10 Radiation-Free Technique for Evaluating Renal Scarring (RAFTERS) Recruiting NCT03653702 Phase 1 Lumason
11 Determination of Voiding Patterns of Children With Vesicoureteral Reflux Unknown status NCT00186199
12 Efficacy of Endoscopic Subureteral Injection for Vesicoureteral Reflux in Adults With Decreased Bladder Compliance Completed NCT00815334
13 Prospective Pediatric Vesicoureteral Reflux Surgery Database Completed NCT01373385
14 Vesico-ureteral Reflux in a Contemporary Series of Spinal Cord Injury Patients With Neurogenic Lower Urinary Tract Dysfunction Completed NCT01297673
15 Comparison of Subureteral Endoscopic Injection of Dextranomer/Hyaluronic Acid and Lich-Gregoir Ureteral Reimplantation In the Treatment of Pediatric Primary Vesicoureteral Reflux: Prospective Randomized Study Completed NCT04798443
16 Tissue Bulking Agent -Polyacrylate Polyalcohol Copolymer for Endoscopic Correction of Vesicoureteral Reflux in Children: A Comparative Study Completed NCT01926353
17 The Long Term Follow-Up Results Of The Direct Nipple Ureteroneocystostomy Technique: A Prospective Study Completed NCT01780493
18 Antimicrobial Prophylaxis in Children With Isolated Vesico-Ureteral Reflux. A Randomised Prospective Study of Continuous Low Dose of Trimethoprim-Sulfamethoxazole Versus Surveillance. Completed NCT00200616
19 DVD-Based Training Program in Self-Hypnosis for Children: A Randomized Clinical Trial Recruiting NCT01483105
20 The Effectiveness of Virtual Reality (VR) to Reduce Pain and Anxiety During Genitourinary (GU) Scans Recruiting NCT04251988
21 Parent Education and Medical Play: A Comparison of Psychological Preparation Strategies for Voiding Cystourethrogram Terminated NCT01578291
22 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
23 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
24 Clinical Applications of Contrast-Enhanced Ultrasonography in Pediatric Population - Intravesicle Administration Withdrawn NCT02986477
25 Bacterial and Host Genetic Risk Factors That Predispose Children to Acute Pyelonephritis and Renal Scarring Withdrawn NCT01137929
26 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

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Genetic Tests for Vesicoureteral Reflux 1

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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

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MalaCards organs/tissues related to Vesicoureteral Reflux 1:

40
Kidney, Spinal Cord, Thyroid, Neutrophil, Smooth Muscle, Testis, Endothelial
Sources

Publications for Vesicoureteral Reflux 1

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Articles related to Vesicoureteral Reflux 1:

(show top 50) (show all 5179)
# Title Authors PMID Year
1
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. 54 57 61
7795640 1995
2
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. 61 6
29351342 2018
3
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec. 57 61
18273880 2008
4
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. 61 57
17357069 2007
5
Natural history of vesicoureteral reflux in siblings. 61 57
8863620 1996
6
Sibling reflux: a dual center retrospective study. 57 61
8683758 1996
7
The transmission of vesicoureteral reflux from parent to child. 57 61
1433624 1992
8
Is it practical to screen for familial vesicoureteral reflux within a private pediatric practice? 61 57
1302456 1992
9
Detecting vesico-ureteral reflux in asymptomatic siblings of children with reflux by direct radionuclide cystography. 57 61
1915489 1991
10
Vesicoureteral reflux in asymptomatic siblings of patients with known reflux: radionuclide cystography. 57 61
3025806 1987
11
Familial occurrence of nonobstructive, noninfectious vesicoureteral reflux with renal scarring. 57 61
1127524 1975
12
Family study of vesicoureteral reflux. 57 61
1127803 1975
13
Familial primary vesicoureteral reflux. 61 57
1132162 1975
14
Familial vesicoureteral reflux. 57 61
4767170 1973
15
A theory on the nature of transmission of congenital vesicoureteral reflux. 57 61
5047411 1972
16
Familial vesicoureteral reflux. 61 57
4922400 1970
17
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
18
Renal aplasia in humans is associated with RET mutations. 57
18252215 2008
19
A genome-wide scan for genes involved in primary vesicoureteric reflux. 57
17660461 2007
20
Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux. 57
17497182 2007
21
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. 57
10739767 2000
22
Vesico-ureteral reflux: a genetic condition? 57
9578958 1998
23
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. 57
9598733 1998
24
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. 57
9067426 1996
25
Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? 57
7856668 1994
26
Vesicoureteric reflux: segregation analysis. 57
3993683 1985
27
Reflux nephropathy in the adult. 57
6744883 1984
28
Identical twins with identical vesicoureteric reflux: chronic pyelonephritis in one. 57
6404409 1983
29
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. 61 54
19594587 2009
30
Uroplakin III is not a major candidate gene for primary vesicoureteral reflux. 54 61
15523493 2005
31
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment. 61 54
16259316 2005
32
Renin-angiotensin system polymorphisms in Taiwanese primary vesicoureteral reflux. 54 61
15045574 2004
33
No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. 61 54
14713856 2004
34
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
35
Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. 54 61
12187255 2002
36
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. 61 54
10533062 1999
37
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 61 54
9783702 1998
38
[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]. 61 54
8969545 1996
39
Urinary N-acetyl-beta-glucosaminidase as a screening technique for vesicoureteral reflux. 61 54
8154076 1994
40
[Studies on reflux nephropathy--renal tubular and glomerular damage evaluated by various urinary indices]. 61 54
7681890 1993
41
Urinary levels of renal tubular enzyme N-acetyl-beta-D-glucosaminidase in relation to grade of vesicoureteral reflux. 61 54
1861320 1991
42
Urinary Tamm-Horsfall protein excretion in patients with primary vesicoureteral reflux. 61 54
1915538 1991
43
Urinary N-acetyl-beta-glucosaminidase and the selection of children for radiologic evaluation after urinary tract infection. 61 54
2371096 1990
44
Neurophysiological control of urinary bladder storage and voiding-functional changes through development and pathology. 61
32415328 2021
45
Editorial Comment: How I do it open distal ureterourete-rostomy for ectopic ureters in infants with duplex sys-tems and no vesicoureteral reflux under 6 months of age. 61
33621010 2021
46
How I do it open distal ureteroureterostomy for ectopic ureters in infants with duplex systems and no vesicoureteral reflux under 6 months of age. 61
33146975 2021
47
Emerging contrast-enhanced ultrasound applications in children. 61
33791840 2021
48
Results of Haberal's Corner-Saving Ureteral Anastomosis Technique for Renal Transplantation: A Retrospective Study. 61
33261850 2021
49
Antireflux Surgery at National Surgical Quality Improvement Program-Pediatric Hospitals. 61
33207139 2021
50
Selecting Children with Vesicoureteral Reflux Who are Most Likely to Benefit from Antibiotic Prophylaxis: Application of Machine Learning to RIVUR. 61
33289598 2021
Sources

Variations for Vesicoureteral Reflux 1

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ClinVar genetic disease variations for Vesicoureteral Reflux 1:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED13L NM_015335.4(MED13L):c.1971del (p.Asp657fs) Deletion Pathogenic 523512 rs1555247805 GRCh37: 12:116446247-116446247
GRCh38: 12:116008442-116008442
2 EBF3 NM_001005463.3(EBF3):c.280_283del (p.Glu94fs) Deletion Pathogenic 375502 rs1057519521 GRCh37: 10:131761639-131761642
GRCh38: 10:129963375-129963378
3 C12orf57 NM_138425.4(C12orf57):c.53-2A>G SNV Pathogenic 242885 rs1114167293 GRCh37: 12:7053637-7053637
GRCh38: 12:6944474-6944474
4 AFAP1L2 , VWA2 NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys) SNV Likely pathogenic 684663 rs148731211 GRCh37: 10:116046036-116046036
GRCh38: 10:114286277-114286277
5 NIPBL NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) SNV Likely pathogenic 978555 GRCh37: 5:36976061-36976061
GRCh38: 5:36975959-36975959
6 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) Deletion Likely pathogenic 523499 rs1554844486 GRCh37: 10:76784742-76784745
GRCh38: 10:75024984-75024987
7 ROBO2 NM_001128929.3(ROBO2):c.*2570C>A SNV Uncertain significance 346751 rs886058890 GRCh37: 3:77697776-77697776
GRCh38: 3:77648625-77648625
8 ROBO2 NM_001128929.3(ROBO2):c.2020G>A (p.Val674Ile) SNV Uncertain significance 346694 rs372550683 GRCh37: 3:77623650-77623650
GRCh38: 3:77574499-77574499
9 ROBO2 NM_001128929.3(ROBO2):c.*2355T>A SNV Uncertain significance 346749 rs766386654 GRCh37: 3:77697561-77697561
GRCh38: 3:77648410-77648410
10 ROBO2 NM_001128929.3(ROBO2):c.*1619dup Duplication Likely benign 346738 rs530776423 GRCh37: 3:77696824-77696825
GRCh38: 3:77647673-77647674
11 ROBO2 NM_001128929.3(ROBO2):c.*3608dup Duplication Likely benign 346768 rs548297436 GRCh37: 3:77698807-77698808
GRCh38: 3:77649656-77649657
12 ROBO2 NM_001128929.3(ROBO2):c.*3288del Deletion Likely benign 346765 rs566529890 GRCh37: 3:77698492-77698492
GRCh38: 3:77649341-77649341
13 SOX17 NM_022454.4(SOX17):c.456G>C (p.Glu152Asp) SNV Likely benign 523052 rs1554579184 GRCh37: 8:55371766-55371766
GRCh38: 8:54459206-54459206
14 ROBO2 NM_001128929.3(ROBO2):c.3602+13del Deletion Benign 346707 rs78824327 GRCh37: 3:77666937-77666937
GRCh38: 3:77617786-77617786
15 ROBO2 NM_001128929.3(ROBO2):c.*3923C>T SNV Benign 369424 rs10865561 GRCh37: 3:77699129-77699129
GRCh38: 3:77649978-77649978
Sources

Expression for Vesicoureteral Reflux 1

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

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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

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.02 PAX2 KAT6B EBF3 AGT AFAP1L2
2 positive regulation of epidermal growth factor receptor signaling pathway GO:0045742 9.63 AGT AFAP1L2
3 vasodilation GO:0042311 9.62 AGTR2 AGT
4 regulation of blood vessel diameter GO:0097746 9.61 AGTR2 AGTR1
5 regulation of vasoconstriction GO:0019229 9.61 AGTR1 AGT
6 positive regulation of blood vessel diameter GO:0097755 9.6 AGTR2 AGT
7 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.59 AGTR1 AGT
8 nitric oxide mediated signal transduction GO:0007263 9.58 AGTR2 AGT
9 sodium ion homeostasis GO:0055078 9.58 UPK3A UMOD
10 low-density lipoprotein particle remodeling GO:0034374 9.57 AGTR1 AGT
11 cell growth involved in cardiac muscle cell development GO:0061049 9.56 AGTR2 AGT
12 positive regulation of cellular protein metabolic process GO:0032270 9.55 AGTR1 AGT
13 positive regulation of renal sodium excretion GO:0035815 9.54 AGTR2 AGT
14 angiotensin-activated signaling pathway GO:0038166 9.52 AGTR2 AGTR1
15 positive regulation of cholesterol esterification GO:0010873 9.51 AGTR1 AGT
16 positive regulation of NAD(P)H oxidase activity GO:0033864 9.49 AGTR1 AGT
17 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.48 AGTR1 AGT
18 metanephric distal convoluted tubule development GO:0072221 9.46 UMOD PAX2
19 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.43 AGTR2 AGT
20 cellular sodium ion homeostasis GO:0006883 9.43 UMOD AGTR2 AGT
21 regulation of renal sodium excretion GO:0035813 9.4 AGTR1 AGT
22 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.37 AGTR1 AGT
23 kidney development GO:0001822 9.35 UPK3A UMOD AGTR2 AGTR1 AGT
24 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 PAX2 AGTR2 AGT
25 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.32 AGTR2 AGT
26 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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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
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