VUR8
MCID: VSC046
MIFTS: 23

Vesicoureteral Reflux 8 (VUR8)

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

Aliases & Classifications for Vesicoureteral Reflux 8

MalaCards integrated aliases for Vesicoureteral Reflux 8:

Name: Vesicoureteral Reflux 8 57 72 29 6 70
Vur8 57 72
Reflux, Vesicoureteral, Type 8 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
two unrelated families have been reported (last curated august 2014)


HPO:

31
vesicoureteral reflux 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615963
OMIM Phenotypic Series 57 PS193000
MeSH 44 D014718
UMLS 70 C4014831

Summaries for Vesicoureteral Reflux 8

UniProtKB/Swiss-Prot : 72 Vesicoureteral reflux 8: 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 8, also known as vur8, is related to quadricuspid aortic valve and ehlers-danlos syndrome, classic-like. An important gene associated with Vesicoureteral Reflux 8 is TNXB (Tenascin XB). Related phenotypes are joint hypermobility and vesicoureteral reflux

More information from OMIM: 615963 PS193000

Related Diseases for Vesicoureteral Reflux 8

Diseases in the Familial Vesicoureteral Reflux family:

Vesicoureteral Reflux 1 Vesicoureteral Reflux 2
Vesicoureteral Reflux 3 Vesicoureteral Reflux 4
Vesicoureteral Reflux 5 Vesicoureteral Reflux 6
Vesicoureteral Reflux 7 Vesicoureteral Reflux 8

Diseases related to Vesicoureteral Reflux 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 quadricuspid aortic valve 9.7 TNXB LOC106780803
2 ehlers-danlos syndrome, classic-like 9.6 TNXB LOC106780803
3 ehlers-danlos syndrome 9.6 TNXB LOC106780803
4 familial vesicoureteral reflux 9.5 TNXB LOC106780803

Symptoms & Phenotypes for Vesicoureteral Reflux 8

Human phenotypes related to Vesicoureteral Reflux 8:

31
# Description HPO Frequency HPO Source Accession
1 joint hypermobility 31 HP:0001382
2 vesicoureteral reflux 31 HP:0000076
3 recurrent urinary tract infections 31 HP:0000010
4 duplicated collecting system 31 HP:0000081

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
joint hypermobility

Genitourinary:
recurrent urinary tract infections

Genitourinary Ureters:
duplicated collecting system

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Kidneys:
duplicated collecting system

Clinical features from OMIM®:

615963 (Updated 20-May-2021)

Drugs & Therapeutics for Vesicoureteral Reflux 8

Search Clinical Trials , NIH Clinical Center for Vesicoureteral Reflux 8

Genetic Tests for Vesicoureteral Reflux 8

Genetic tests related to Vesicoureteral Reflux 8:

# Genetic test Affiliating Genes
1 Vesicoureteral Reflux 8 29 TNXB

Anatomical Context for Vesicoureteral Reflux 8

Publications for Vesicoureteral Reflux 8

Articles related to Vesicoureteral Reflux 8:

# Title Authors PMID Year
1
TNXB mutations can cause vesicoureteral reflux. 6 57
23620400 2013
2
[Video-urodynamic evaluation with cystosonography for the study of lower urinary tract dysfunction and other uropathies in children]. 61
30260108 2018
3
Acute focal bacterial nephritis in 25 children. 61
17874139 2007
4
Diseases causing end-stage renal failure in New South Wales. 61
1090338 1975

Variations for Vesicoureteral Reflux 8

ClinVar genetic disease variations for Vesicoureteral Reflux 8:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNXB NM_001365276.2(TNXB):c.8995del (p.Arg2999fs) Deletion Pathogenic 997467 GRCh37: 6:32020567-32020567
GRCh38: 6:32052790-32052790
2 LOC106780803 , TNXB NM_001365276.2(TNXB):c.12469+2T>C SNV Pathogenic 449837 rs545719209 GRCh37: 6:32009787-32009787
GRCh38: 6:32042010-32042010
3 TNXB NM_001365276.2(TNXB):c.3991G>A (p.Gly1331Arg) SNV Pathogenic 144114 rs587777684 GRCh37: 6:32049196-32049196
GRCh38: 6:32081419-32081419
4 TNXB NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile) SNV Pathogenic 144113 rs587777683 GRCh37: 6:32016415-32016415
GRCh38: 6:32048638-32048638
5 LOC106780803 , TNXB NM_001365276.2(TNXB):c.12512G>A (p.Arg4171His) SNV Uncertain significance 224352 rs544604053 GRCh37: 6:32009669-32009669
GRCh38: 6:32041892-32041892
6 TNXB NM_001365276.2(TNXB):c.10045G>A (p.Ala3349Thr) SNV Uncertain significance 224353 rs529527925 GRCh37: 6:32016140-32016140
GRCh38: 6:32048363-32048363
7 TNXB NM_001365276.2(TNXB):c.5800A>C (p.Ile1934Leu) SNV Uncertain significance 1032817 GRCh37: 6:32036701-32036701
GRCh38: 6:32068924-32068924
8 LOC106780803 , TNXB NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) SNV Uncertain significance 626034 rs1379154957 GRCh37: 6:32013077-32013077
GRCh38: 6:32045300-32045300
9 TNXB NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) SNV Uncertain significance 626035 rs551447544 GRCh37: 6:32036210-32036210
GRCh38: 6:32068433-32068433
10 TNXB NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) SNV Uncertain significance 626036 rs184813324 GRCh37: 6:32037501-32037501
GRCh38: 6:32069724-32069724
11 TNXB NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) SNV Uncertain significance 626037 rs573740606 GRCh37: 6:32052423-32052423
GRCh38: 6:32084646-32084646
12 TNXB NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) SNV Uncertain significance 426989 rs141190850 GRCh37: 6:32063600-32063600
GRCh38: 6:32095823-32095823
13 TNXB NM_001365276.2(TNXB):c.861G>A (p.Arg287=) SNV Uncertain significance 626191 rs1406340228 GRCh37: 6:32064769-32064769
GRCh38: 6:32096992-32096992
14 TNXB NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) SNV Uncertain significance 827991 rs529485424 GRCh37: 6:32021195-32021195
GRCh38: 6:32053418-32053418
15 TNXB NM_001365276.2(TNXB):c.6544+8T>A SNV Uncertain significance 261149 rs150379644 GRCh37: 6:32035430-32035430
GRCh38: 6:32067653-32067653
16 TNXB NM_001365276.2(TNXB):c.287T>A (p.Leu96His) SNV Uncertain significance 992504 GRCh37: 6:32065689-32065689
GRCh38: 6:32097912-32097912
17 TNXB NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser) SNV Uncertain significance 992505 GRCh37: 6:32065068-32065068
GRCh38: 6:32097291-32097291
18 TNXB NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) SNV Uncertain significance 827991 rs529485424 GRCh37: 6:32021195-32021195
GRCh38: 6:32053418-32053418

UniProtKB/Swiss-Prot genetic disease variations for Vesicoureteral Reflux 8:

72
# Symbol AA change Variation ID SNP ID
1 TNXB p.Thr1244Arg VAR_072580
2 TNXB p.Val3212Ile VAR_072581 rs147325703

Expression for Vesicoureteral Reflux 8

Search GEO for disease gene expression data for Vesicoureteral Reflux 8.

Pathways for Vesicoureteral Reflux 8

GO Terms for Vesicoureteral Reflux 8

Sources for Vesicoureteral Reflux 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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