VUR3
MCID: VSC025
MIFTS: 21

Vesicoureteral Reflux 3 (VUR3)

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

Aliases & Classifications for Vesicoureteral Reflux 3

MalaCards integrated aliases for Vesicoureteral Reflux 3:

Name: Vesicoureteral Reflux 3 56 73 29 13 6 71
Vur3 56 73
Reflux, Vesicoureteral, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or in infancy


HPO:

31
vesicoureteral reflux 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 613674
OMIM Phenotypic Series 56 PS193000
MeSH 43 D014718
MedGen 41 C3150927
UMLS 71 C3150927

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : 73 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. An important gene associated with Vesicoureteral Reflux 3 is SOX17 (SRY-Box Transcription Factor 17). Affiliated tissues include kidney, and related phenotypes are polyhydramnios and vesicoureteral reflux

More information from OMIM: 613674 PS193000

Related Diseases for Vesicoureteral Reflux 3

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Human phenotypes related to Vesicoureteral Reflux 3:

31
# Description HPO Frequency HPO Source Accession
1 polyhydramnios 31 HP:0001561
2 vesicoureteral reflux 31 HP:0000076
3 hydronephrosis 31 HP:0000126
4 hydroureter 31 HP:0000072

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Kidneys:
hydronephrosis
renal scarring
duplication of the renal pelvis (1 patient)

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Ureters:
megaureter
ureteral dilatation

Clinical features from OMIM:

613674

Drugs & Therapeutics for Vesicoureteral Reflux 3

Search Clinical Trials , NIH Clinical Center for Vesicoureteral Reflux 3

Genetic Tests for Vesicoureteral Reflux 3

Genetic tests related to Vesicoureteral Reflux 3:

# Genetic test Affiliating Genes
1 Vesicoureteral Reflux 3 29 SOX17

Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

40
Kidney

Publications for Vesicoureteral Reflux 3

Articles related to Vesicoureteral Reflux 3:

# Title Authors PMID Year
1
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 6 56
20960469 2010
2
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 6
28566479 2017
3
Pediatric procedures in urology residency training: An analysis of the experience of Canadian urology residents. 61
25408795 2014
4
Chronic peritoneal dialysis in children with special needs or social disadvantage or both: contraindications are not always contraindications. 61
22045099 2012
5
Urologic complications in more than 2500 kidney transplantations performed at the Saint Barnabas healthcare system. 61
21693244 2011
6
Change of urodynamic patterns in infants with dilating vesicoureteral reflux: 3-year followup. 61
19765771 2009
7
Kidney growth and renal function in unilateral multicystic dysplastic kidney disease. 61
9761356 1998
8
Relationship among vesicoureteral reflux, P-fimbriated Escherichia coli, and acute pyelonephritis in children with febrile urinary tract infection. 61
1681043 1991
9
Mortality and morbidity in pretransplant bilateral nephrectomy: analysis of 305 cases. 61
356390 1978

Variations for Vesicoureteral Reflux 3

ClinVar genetic disease variations for Vesicoureteral Reflux 3:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX17 SOX17, 6-BP INS, NT51insertion Pathogenic 18415
2 SOX17 NM_022454.4(SOX17):c.532G>T (p.Gly178Cys)SNV Conflicting interpretations of pathogenicity 18414 rs267607082 8:55371842-55371842 8:54459282-54459282
3 SOX17 NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)SNV Benign/Likely benign 18413 rs267607083 8:55372085-55372085 8:54459525-54459525

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

73
# Symbol AA change Variation ID SNP ID
1 SOX17 p.Gly178Cys VAR_065169 rs267607082
2 SOX17 p.Tyr259Asn VAR_065170 rs267607083

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
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
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