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 57 75 29 6 73
Vur8 57 75
Reflux, Vesicoureteral, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
vesicoureteral reflux 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615963
MeSH 44 D014718
UMLS 73 C4014831

Summaries for Vesicoureteral Reflux 8

UniProtKB/Swiss-Prot : 75 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 9.7 CYP21A2 TNXB

Symptoms & Phenotypes for Vesicoureteral Reflux 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Vesicoureteral Reflux 8:

32
# Description HPO Frequency HPO Source Accession
1 joint hypermobility 32 HP:0001382
2 vesicoureteral reflux 32 HP:0000076
3 recurrent urinary tract infections 32 HP:0000010
4 duplicated collecting system 32 HP:0000081

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

MalaCards organs/tissues related to Vesicoureteral Reflux 8:

41
Kidney

Publications for Vesicoureteral Reflux 8

Variations for Vesicoureteral Reflux 8

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

75
# Symbol AA change Variation ID SNP ID
1 TNXB p.Thr1244Arg VAR_072580
2 TNXB p.Val3212Ile VAR_072581

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 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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