VUR3
MCID: VSC025
MIFTS: 18

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 58 76 30 13 6 74
Vur3 58 76
Reflux, Vesicoureteral, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or in infancy


HPO:

33
vesicoureteral reflux 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613674
MeSH 45 D014718
MedGen 43 C3150927
UMLS 74 C3150927

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : 76 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 17). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and polyhydramnios

Description from OMIM: 613674

Related Diseases for Vesicoureteral Reflux 3

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Human phenotypes related to Vesicoureteral Reflux 3:

33
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 33 HP:0000076
2 polyhydramnios 33 HP:0001561
3 hydronephrosis 33 HP:0000126
4 hydroureter 33 HP:0000072

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Bladder:
vesicoureteral reflux

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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 30 SOX17

Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

42
Kidney

Publications for Vesicoureteral Reflux 3

Articles related to Vesicoureteral Reflux 3:

# Title Authors Year
1
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. ( 28566479 )
2017
2
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. ( 20960469 )
2010
3
Change of urodynamic patterns in infants with dilating vesicoureteral reflux: 3-year followup. ( 19765771 )
2009

Variations for Vesicoureteral Reflux 3

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

76
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX17 NM_022454.3(SOX17): c.775T> A (p.Tyr259Asn) single nucleotide variant Likely benign rs267607083 GRCh37 Chromosome 8, 55372085: 55372085
2 SOX17 NM_022454.3(SOX17): c.775T> A (p.Tyr259Asn) single nucleotide variant Likely benign rs267607083 GRCh38 Chromosome 8, 54459525: 54459525
3 SOX17 NM_022454.3(SOX17): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs267607082 GRCh37 Chromosome 8, 55371842: 55371842
4 SOX17 NM_022454.3(SOX17): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs267607082 GRCh38 Chromosome 8, 54459282: 54459282
5 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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