MCID: VSC025
MIFTS: 16

Vesicoureteral Reflux 3

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Vesicoureteral Reflux 3

MalaCards integrated aliases for Vesicoureteral Reflux 3:

Name: Vesicoureteral Reflux 3 53 71 28 13 69
Vur3 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or in infancy


HPO:

31
vesicoureteral reflux 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613674
MedGen 39 C3150927
MeSH 41 D014718
UMLS 69 C3150927

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : 71 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). Affiliated tissues include kidney.

Description from OMIM: 613674

Related Diseases for Vesicoureteral Reflux 3

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Kidneys:
hydronephrosis
renal scarring
duplication of the renal pelvis (1 patient)

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Ureters:
megaureter
ureteral dilatation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios


Clinical features from OMIM:

613674

Human phenotypes related to Vesicoureteral Reflux 3:

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

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 28 SOX17

Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

38
Kidney

Publications for Vesicoureteral Reflux 3

Variations for Vesicoureteral Reflux 3

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

71
# 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.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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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