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 57 74 29 13 6 72
Vur3 57 74
Reflux, Vesicoureteral, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or in infancy


HPO:

32
vesicoureteral reflux 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D014718
MedGen 42 C3150927
UMLS 72 C3150927

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : 74 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
20960469 2010
2
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 71
28566479 2017
3
Pediatric procedures in urology residency training: An analysis of the experience of Canadian urology residents. 38
25408795 2014
4
Chronic peritoneal dialysis in children with special needs or social disadvantage or both: contraindications are not always contraindications. 38
22045099 2012
5
Urologic complications in more than 2500 kidney transplantations performed at the Saint Barnabas healthcare system. 38
21693244 2011
6
Change of urodynamic patterns in infants with dilating vesicoureteral reflux: 3-year followup. 38
19765771 2009
7
Kidney growth and renal function in unilateral multicystic dysplastic kidney disease. 38
9761356 1998
8
Relationship among vesicoureteral reflux, P-fimbriated Escherichia coli, and acute pyelonephritis in children with febrile urinary tract infection. 38
1681043 1991
9
Mortality and morbidity in pretransplant bilateral nephrectomy: analysis of 305 cases. 38
356390 1978

Variations for Vesicoureteral Reflux 3

ClinVar genetic disease variations for Vesicoureteral Reflux 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SOX17 SOX17, 6-BP INS, NT51 insertion Pathogenic
2 SOX17 NM_022454.4(SOX17): c.532G> T (p.Gly178Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs267607082 8:55371842-55371842 8:54459282-54459282
3 SOX17 NM_022454.4(SOX17): c.775T> A (p.Tyr259Asn) single nucleotide variant Likely benign rs267607083 8:55372085-55372085 8:54459525-54459525

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....