VUR3
MCID: VSC025
MIFTS: 20

Vesicoureteral Reflux 3 (VUR3) malady

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Vesicoureteral Reflux 3

Aliases & Descriptions for Vesicoureteral Reflux 3:

Name: Vesicoureteral Reflux 3 54 24 66 29 13 69
Vur3 66

Characteristics:

HPO:

32
vesicoureteral reflux 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613674
MedGen 40 C3150927
MeSH 42 D014718

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : 66 Vesicoureteral reflux 3: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.

MalaCards based summary : Vesicoureteral Reflux 3, is also known as vur3, and has symptoms including vesicoureteral reflux, polyhydramnios and hydronephrosis. An important gene associated with Vesicoureteral Reflux 3 is SOX17 (SRY-Box 17). The drugs Hyaluronic acid and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM: 613674

Related Diseases for Vesicoureteral Reflux 3

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Symptoms by clinical synopsis from OMIM:

613674

Clinical features from OMIM:

613674

Human phenotypes related to Vesicoureteral Reflux 3:

32
id Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 polyhydramnios 32 HP:0001561
3 hydronephrosis 32 HP:0000126
4 hydroureter 32 HP:0000072

Drugs & Therapeutics for Vesicoureteral Reflux 3

Drugs for Vesicoureteral Reflux 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
2 Adjuvants, Immunologic Phase 4
3 Protective Agents Phase 4,Phase 3
4 Viscosupplements Phase 4
5
Sulfamethoxazole Approved Phase 3 723-46-6 5329
6
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
7
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613 2171
8
Cefixime Approved Phase 3 79350-37-1 54362 5362065
9
Nitrofurantoin Approved, Vet_approved Phase 3 67-20-9 5353830
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
12
Alginic acid Phase 3 9005-32-7
13 Coagulants Phase 3
14 Hemostatics Phase 3
15 Radiation-Protective Agents Phase 3
16 Anti-Bacterial Agents Phase 3
17 Antibiotics, Antitubercular Phase 3
18 Anti-Infective Agents Phase 3
19 Antimalarials Phase 3
20 Antiparasitic Agents Phase 3
21 Antiprotozoal Agents Phase 3
22 Cytochrome P-450 Enzyme Inhibitors Phase 3
23 Folic Acid Antagonists Phase 3
24 Renal Agents Phase 3
25 Trimethoprim, Sulfamethoxazole Drug Combination Phase 3
26 Vitamin B Complex Phase 3
27 Amoxicillin-Potassium Clavulanate Combination Phase 3
28 Antitubercular Agents Phase 3
29 beta-Lactamase Inhibitors Phase 3
30 Clavulanic Acid Phase 3
31 carnitine Nutraceutical Phase 3
32 Folate Nutraceutical Phase 3
33 Vitamin B9 Nutraceutical Phase 3
34 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Prospective Study Comparing the Success Rate of Injection of (DefluxR) Versus (VantrisR) for VUR in Children Unknown status NCT02271035 Phase 4
2 Phase III Study of Chondrocyte Alginate Gel Suspension in Pediatric Patients With Vesicoureteral Reflux Unknown status NCT00004487 Phase 3
3 L-carnitine on the Prevention of Renal Scarring in Acute Pyelonephritis Unknown status NCT02007889 Phase 3
4 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3
5 Evaluation of the Efficiency of Autologous Adipocytes Graft in Endoscopic Treatment in Vesico-Renal Reflux in Children Recruiting NCT00367159 Phase 3
6 Antibiotic Prophylaxis and Renal Damage In Congenital Abnormalities of the Kidney and Urinary Tract Recruiting NCT02021006 Phase 3
7 Antibiotic Prophylaxis in Children With Pyelonephritis Withdrawn NCT00752375 Phase 3
8 CeVUS With Intravesical Administration of OPTISON TM (Trademark) in Children Active, not recruiting NCT02204917 Phase 1, Phase 2
9 Change of Urinary Metabolic Profile Secondary to a Congenital Urine Flow Impairment (UFI) by Nuclear Magnetic Resonance (NMR) and Metabolomics Analysis Active, not recruiting NCT02792348

Search NIH Clinical Center for Vesicoureteral Reflux 3

Genetic Tests for Vesicoureteral Reflux 3

Genetic tests related to Vesicoureteral Reflux 3:

id Genetic test Affiliating Genes
1 Vesicoureteral Reflux 3 29 24 SOX17

Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

39
Kidney

Publications for Vesicoureteral Reflux 3

Variations for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot genetic disease variations for Vesicoureteral Reflux 3:

66
id Symbol AA change Variation ID SNP ID
1 SOX17 p.Gly178Cys VAR_065169 rs267607082
2 SOX17 p.Tyr259Asn VAR_065170 rs267607083

ClinVar genetic disease variations for Vesicoureteral Reflux 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SOX17 NM_022454.3(SOX17): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs267607082 GRCh37 Chromosome 8, 55371842: 55371842
2 SOX17 SOX17, 6-BP INS, NT51 insertion Pathogenic

Expression for Vesicoureteral Reflux 3

Search GEO for disease gene expression data for Vesicoureteral Reflux 3.

Pathways for Vesicoureteral Reflux 3

GO Terms for Vesicoureteral Reflux 3

Sources for Vesicoureteral Reflux 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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