MCID: VSC025
MIFTS: 17

Vesicoureteral Reflux 3

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Vesicoureteral Reflux 3

MalaCards integrated aliases for Vesicoureteral Reflux 3:

Name: Vesicoureteral Reflux 3 57 75 29 13 6 73
Vur3 57 75
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:

OMIM 57 613674
MedGen 42 C3150927
MeSH 44 D014718
UMLS 73 C3150927

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : 75 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 hydroureter and vesicoureteral reflux

Description from OMIM: 613674

Related Diseases for Vesicoureteral Reflux 3

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Symptoms via clinical synopsis from OMIM:

57
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:

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

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

Variations for Vesicoureteral Reflux 3

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

75
# 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 NM_022454.3(SOX17): c.532G> T (p.Gly178Cys) single nucleotide variant Pathogenic rs267607082 GRCh38 Chromosome 8, 54459282: 54459282
3 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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