VUR8
MCID: VSC046
MIFTS: 18

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 58 76 30 6 74
Vur8 58 76
Reflux, Vesicoureteral, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
vesicoureteral reflux 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615963
MeSH 45 D014718
UMLS 74 C4014831

Summaries for Vesicoureteral Reflux 8

UniProtKB/Swiss-Prot : 76 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 steroid inherited metabolic disorder. An important gene associated with Vesicoureteral Reflux 8 is TNXB (Tenascin XB). Affiliated tissues include kidney, and related phenotypes are joint hypermobility and vesicoureteral reflux

Description from OMIM: 615963

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 steroid inherited metabolic disorder 9.5 CYP21A2 TNXB

Symptoms & Phenotypes for Vesicoureteral Reflux 8

Human phenotypes related to Vesicoureteral Reflux 8:

33
# Description HPO Frequency HPO Source Accession
1 joint hypermobility 33 HP:0001382
2 vesicoureteral reflux 33 HP:0000076
3 recurrent urinary tract infections 33 HP:0000010
4 duplicated collecting system 33 HP:0000081

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TNXB

Anatomical Context for Vesicoureteral Reflux 8

MalaCards organs/tissues related to Vesicoureteral Reflux 8:

42
Kidney

Publications for Vesicoureteral Reflux 8

Variations for Vesicoureteral Reflux 8

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

76
# Symbol AA change Variation ID SNP ID
1 TNXB p.Thr1244Arg VAR_072580
2 TNXB p.Val3212Ile VAR_072581 rs147325703

ClinVar genetic disease variations for Vesicoureteral Reflux 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNXB NM_019105.6(TNXB): c.9764C> T (p.Thr3255Ile) single nucleotide variant Pathogenic rs587777683 GRCh37 Chromosome 6, 32016415: 32016415
2 TNXB NM_019105.6(TNXB): c.9764C> T (p.Thr3255Ile) single nucleotide variant Pathogenic rs587777683 GRCh38 Chromosome 6, 32048638: 32048638
3 TNXB NM_019105.6(TNXB): c.3991G> A (p.Gly1331Arg) single nucleotide variant Pathogenic rs587777684 GRCh37 Chromosome 6, 32049196: 32049196
4 TNXB NM_019105.6(TNXB): c.3991G> A (p.Gly1331Arg) single nucleotide variant Pathogenic rs587777684 GRCh38 Chromosome 6, 32081419: 32081419
5 TNXB NM_019105.6(TNXB): c.12506G> A (p.Arg4169His) single nucleotide variant Uncertain significance rs544604053 GRCh37 Chromosome 6, 32009669: 32009669
6 TNXB NM_019105.6(TNXB): c.12506G> A (p.Arg4169His) single nucleotide variant Uncertain significance rs544604053 GRCh38 Chromosome 6, 32041892: 32041892
7 TNXB NM_019105.6(TNXB): c.10039G> A (p.Ala3347Thr) single nucleotide variant Uncertain significance rs529527925 GRCh37 Chromosome 6, 32016140: 32016140
8 TNXB NM_019105.6(TNXB): c.10039G> A (p.Ala3347Thr) single nucleotide variant Uncertain significance rs529527925 GRCh38 Chromosome 6, 32048363: 32048363

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
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
Content
Loading form....