MCID: FML284
MIFTS: 29

Familial Vesicoureteral Reflux malady

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Vesicoureteral Reflux

Aliases & Descriptions for Familial Vesicoureteral Reflux:

Name: Familial Vesicoureteral Reflux 56
Familial Vur 56

Characteristics:

Orphanet epidemiological data:

56
familial vesicoureteral reflux
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 56 ORPHA289365
ICD10 via Orphanet 34 N13.7

Summaries for Familial Vesicoureteral Reflux

MalaCards based summary : Familial Vesicoureteral Reflux, also known as familial vur, is related to vesicoureteral reflux and chylocele of tunica vaginalis. An important gene associated with Familial Vesicoureteral Reflux is ROBO2 (Roundabout Guidance Receptor 2), and among its related pathways/superpathways are ECM proteoglycans and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Affiliated tissues include testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Familial Vesicoureteral Reflux

Graphical network of the top 20 diseases related to Familial Vesicoureteral Reflux:



Diseases related to Familial Vesicoureteral Reflux

Symptoms & Phenotypes for Familial Vesicoureteral Reflux

MGI Mouse Phenotypes related to Familial Vesicoureteral Reflux:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 ROBO2 SOX17 TGFB1 ACE TNXB AGTR2
2 homeostasis/metabolism MP:0005376 9.8 AGTR2 ROBO2 SOX17 TGFB1 ACE TNXB
3 mortality/aging MP:0010768 9.73 AGTR2 ROBO2 SOX17 TGFB1 ACE TNXB
4 digestive/alimentary MP:0005381 9.67 AGTR2 ROBO2 SOX17 TGFB1
5 muscle MP:0005369 9.46 AGTR2 ROBO2 SOX17 TGFB1
6 neoplasm MP:0002006 9.26 AGTR2 TGFB1 ACE TNXB
7 renal/urinary system MP:0005367 8.92 AGTR2 ROBO2 TGFB1 ACE

Drugs & Therapeutics for Familial Vesicoureteral Reflux

Interventional clinical trials:


id Name Status NCT ID Phase
1 Antibiotic Prophylaxis in Children With Pyelonephritis Withdrawn NCT00752375 Phase 3

Search NIH Clinical Center for Familial Vesicoureteral Reflux

Genetic Tests for Familial Vesicoureteral Reflux

Anatomical Context for Familial Vesicoureteral Reflux

MalaCards organs/tissues related to Familial Vesicoureteral Reflux:

39
Testes

Publications for Familial Vesicoureteral Reflux

Articles related to Familial Vesicoureteral Reflux:

(show all 22)
id Title Authors Year
1
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux. ( 23536131 )
2013
2
Familial vesicoureteral reflux and reflux related morbidity in relatives of index patients with high grade vesicoureteral reflux. ( 22906681 )
2012
3
Protective locus against renal scarring on chromosome 11 in affected sib pairs with familial vesicoureteral reflux identified by single nucleotide polymorphism linkage analysis. ( 22906679 )
2012
4
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. ( 19690587 )
2010
5
Prevalence of duplex collecting systems in familial vesicoureteral reflux. ( 19936763 )
2010
6
Familial vesicoureteral reflux--is screening beneficial? ( 19692047 )
2009
7
ROBO2 gene variants are associated with familial vesicoureteral reflux. ( 18235093 )
2008
8
Association of transforming growth factor-beta1 gene polymorphism with familial vesicoureteral reflux. ( 17707032 )
2007
9
Familial vesicoureteral reflux: influence of sex on prevalence and expression. ( 16945647 )
2006
10
Renal scarring in familial vesicoureteral reflux: is prevention possible? ( 16945668 )
2006
11
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. ( 15829711 )
2005
12
Familial vesicoureteral reflux. ( 12686848 )
2003
13
Fetal renal pelvic dilatation--poor predictor of familial vesicoureteral reflux. ( 12883970 )
2003
14
Familial vesicoureteral reflux in asymptomatic siblings. ( 12405437 )
2002
15
Risk factors for the development of renal parenchymal damage in familial vesicoureteral reflux. ( 12352339 )
2002
16
Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. ( 12187255 )
2002
17
Angiotensin-converting enzyme genotype distribution in familial vesicoureteral reflux. ( 11409168 )
2001
18
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. ( 9598733 )
1998
19
Familial vesicoureteral reflux. ( 8441585 )
1993
20
Is it practical to screen for familial vesicoureteral reflux within a private pediatric practice? ( 1302456 )
1992
21
HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. ( 2595723 )
1989
22
Familial vesicoureteral reflux: a study of 16 families. ( 3727203 )
1986

Variations for Familial Vesicoureteral Reflux

Expression for Familial Vesicoureteral Reflux

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

Pathways for Familial Vesicoureteral Reflux

Pathways related to Familial Vesicoureteral Reflux according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.91 TGFB1 TNXB
2
Show member pathways
10.7 ACE AGTR2 TGFB1
3 10.68 SOX17 TGFB1

GO Terms for Familial Vesicoureteral Reflux

Biological processes related to Familial Vesicoureteral Reflux according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.7 AGTR2 SOX17 TGFB1
2 kidney development GO:0001822 9.51 ACE ROBO2
3 regulation of blood pressure GO:0008217 9.49 ACE AGTR2
4 vasculogenesis GO:0001570 9.48 SOX17 TGFB1
5 ureteric bud development GO:0001657 9.46 ROBO2 TGFB1
6 cellular response to dexamethasone stimulus GO:0071549 9.43 AGTR2 TGFB1
7 blood vessel remodeling GO:0001974 9.4 ACE AGTR2
8 endoderm development GO:0007492 9.37 SOX17 TGFB1
9 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.32 AGTR2 TGFB1
10 negative regulation of blood vessel endothelial cell migration GO:0043537 9.26 AGTR2 TGFB1
11 regulation of vasodilation GO:0042312 9.16 ACE AGTR2
12 negative regulation of cell growth GO:0030308 9.13 AGTR2 SOX17 TGFB1
13 mononuclear cell proliferation GO:0032943 8.62 ACE TGFB1

Sources for Familial Vesicoureteral Reflux

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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