MCID: FML284
MIFTS: 30

Familial Vesicoureteral Reflux

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

Aliases & Classifications for Familial Vesicoureteral Reflux

MalaCards integrated aliases for Familial Vesicoureteral Reflux:

Name: Familial Vesicoureteral Reflux 58 6
Familial Vur 58

Characteristics:

Orphanet epidemiological data:

58
familial vesicoureteral reflux
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 N13.7
Orphanet 58 ORPHA289365

Summaries for Familial Vesicoureteral Reflux

MalaCards based summary : Familial Vesicoureteral Reflux, also known as familial vur, is related to urinary tract infection and congenital anomalies of kidney and urinary tract 2. An important gene associated with Familial Vesicoureteral Reflux is ROBO2 (Roundabout Guidance Receptor 2), and among its related pathways/superpathways is Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Related phenotype is cardiovascular system.

Related Diseases for Familial Vesicoureteral Reflux

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 Familial Vesicoureteral Reflux via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 urinary tract infection 30.8 TGFB1 EBF3 ACE
2 congenital anomalies of kidney and urinary tract 2 30.5 TGFB1 ROBO2 AGTR2
3 renal hypoplasia 29.8 ROBO2 KAT6B
4 cakut 29.8 TNXB SOX17 ROBO2 AGTR2 ACE
5 vesicoureteral reflux 1 27.9 VWA2 TNXB TGFB1 ROBO2 NIPBL MED13L
6 intracranial vasospasm 10.3 AGTR2 ACE
7 fibromuscular dysplasia 10.2 TGFB1 ACE
8 diffuse scleroderma 10.2 TGFB1 ACE
9 idiopathic nephrotic syndrome 10.2 TGFB1 ACE
10 myocardial stunning 10.2 AGTR2 ACE
11 acute cystitis 10.2
12 facial paralysis 10.2 TGFB1 ACE
13 pseudohyperkalemia, familial, 2, due to red cell leak 10.2 AGTR2 ACE
14 heritable pulmonary arterial hypertension 10.2 TGFB1 SOX17
15 quadricuspid aortic valve 10.2 TNXB LOC106780803
16 vesicoureteral reflux 8 10.1 TNXB LOC106780803
17 ehlers-danlos syndrome, classic-like 10.1 TNXB LOC106780803
18 posterior urethral valves 10.1 TGFB1 AGTR2 ACE
19 microvascular complications of diabetes 3 10.1 TGFB1 ACE
20 ureteral disease 10.1 TGFB1 ROBO2 ACE
21 obstructive nephropathy 10.1 TGFB1 AGTR2 ACE
22 isolated pierre robin sequence 10.1 MED13L EBF3
23 pierre robin syndrome 10.1 MED13L EBF3
24 hydronephrosis 10.1 TGFB1 C12orf57 AGTR2
25 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 MED13L EBF3
26 vesicoureteral reflux 4 10.0
27 vesicoureteral reflux 5 10.0
28 vesicoureteral reflux 6 10.0
29 proteinuria, chronic benign 10.0
30 chronic pyelonephritis 10.0
31 pyelonephritis 10.0
32 pyuria 10.0
33 end stage renal disease 10.0
34 renal tubular dysgenesis 10.0 EBF3 ACE
35 renal hypodysplasia/aplasia 1 9.9 ROBO2 EBF3 AGTR2 ACE
36 ohdo syndrome 9.9 MED13L KAT6B
37 diastolic heart failure 9.9 TGFB1 ACE
38 eyelid disease 9.6 NIPBL KAT6B
39 disease of mental health 8.7 TGFB1 ROBO2 NIPBL MED13L KAT6B EBF3

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ACE AFAP1L2 AGTR2 NIPBL ROBO2 SOX17

Drugs & Therapeutics for Familial Vesicoureteral Reflux

Search Clinical Trials , NIH Clinical Center for Familial Vesicoureteral Reflux

Genetic Tests for Familial Vesicoureteral Reflux

Anatomical Context for Familial Vesicoureteral Reflux

Publications for Familial Vesicoureteral Reflux

Articles related to Familial Vesicoureteral Reflux:

(show all 48)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. 6
29351342 2018
3
TNXB mutations can cause vesicoureteral reflux. 6
23620400 2013
4
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 6
20960469 2010
5
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. 6
17357069 2007
6
Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants. 61
31702543 2020
7
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome. 61
29734195 2018
8
Renal cortical abnormalities in siblings of index patients with vesicoureteral reflux. 61
24664090 2014
9
Familial vesicoureteral reflux and reflux related morbidity in relatives of index patients with high grade vesicoureteral reflux. 61
22906681 2012
10
Protective locus against renal scarring on chromosome 11 in affected sib pairs with familial vesicoureteral reflux identified by single nucleotide polymorphism linkage analysis. 61
22906679 2012
11
Sibling vesicoureteral reflux in twins. 61
21258940 2011
12
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. 61
19690587 2010
13
Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait. 61
19705159 2010
14
Prevalence of duplex collecting systems in familial vesicoureteral reflux. 61
19936763 2010
15
Familial vesicoureteral reflux--is screening beneficial? 61
19692047 2009
16
Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux. 61
19350278 2009
17
ROBO2 gene variants are associated with familial vesicoureteral reflux. 61
18235093 2008
18
Association of transforming growth factor-beta1 gene polymorphism with familial vesicoureteral reflux. 61
17707032 2007
19
Lack of association of IL8 gene polymorphisms with familial vesico-ureteral reflux. 61
17211588 2007
20
Familial vesicoureteral reflux: influence of sex on prevalence and expression. 61
16945647 2006
21
Renal scarring in familial vesicoureteral reflux: is prevention possible? 61
16945668 2006
22
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. 61
15829711 2005
23
Fetal renal pelvic dilatation--poor predictor of familial vesicoureteral reflux. 61
12883970 2003
24
Familial vesicoureteral reflux. 61
12686848 2003
25
[HLA typing in twins with vesicoureteral reflux]. 61
12696190 2003
26
Risk factors for the development of renal parenchymal damage in familial vesicoureteral reflux. 61
12352339 2002
27
Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. 61
12187255 2002
28
Familial vesicoureteral reflux in asymptomatic siblings. 61
12405437 2002
29
[Vesicoureteral reflux in a family]. 61
11771173 2001
30
Angiotensin-converting enzyme genotype distribution in familial vesicoureteral reflux. 61
11409168 2001
31
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. 61
9598733 1998
32
Screening of newborn babies for familial ureteric reflux. 61
9259653 1997
33
[Renal hypoplasia and familial vesicoureteral reflux. A rare association]. 61
8721003 1996
34
[Vesicoureteral reflux as a familial disease]. 61
9102943 1996
35
Familial vesicoureteral reflux. 61
8441585 1993
36
Is it practical to screen for familial vesicoureteral reflux within a private pediatric practice? 61
1302456 1992
37
HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. 61
2595723 1989
38
Familial vesicoureteral reflux: a study of 16 families. 61
3727203 1986
39
[Familial vesicoureteral reflux]. 61
6677104 1983
40
[Familial vesicoureteral reflux]. 61
6681505 1983
41
Familial vesicoureteral reflux: a prospective study. 61
7143601 1982
42
[Familial vesicoureteral reflux (author's transl)]. 61
484943 1979
43
[Familial vesicoureteral reflux (author's transl)]. 61
944346 1976
44
Familial vesicoureteral reflux. 61
4767170 1973
45
Familial vesicoureteral reflux. 61
4747662 1973
46
Familial vesicoureteral reflux. 61
5082758 1972
47
Hereditary and familial vesicoureteral reflux. 61
5116299 1971
48
Familial vesicoureteral reflux. 61
4922400 1970

Variations for Familial Vesicoureteral Reflux

ClinVar genetic disease variations for Familial Vesicoureteral Reflux:

6 (show top 50) (show all 199)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOX17 NM_022454.4(SOX17):c.532G>T (p.Gly178Cys) SNV Pathogenic 18414 rs267607082 GRCh37: 8:55371842-55371842
GRCh38: 8:54459282-54459282
2 SOX17 SOX17, 6-BP INS, NT51 Insertion Pathogenic 18415 GRCh37:
GRCh38:
3 TNXB NM_001365276.2(TNXB):c.3991G>A (p.Gly1331Arg) SNV Pathogenic 144114 rs587777684 GRCh37: 6:32049196-32049196
GRCh38: 6:32081419-32081419
4 ROBO2 NM_001128929.3(ROBO2):c.3754G>A (p.Ala1252Thr) SNV Pathogenic 7104 rs267607015 GRCh37: 3:77671529-77671529
GRCh38: 3:77622378-77622378
5 LOC106780803 , TNXB NM_001365276.2(TNXB):c.12469+2T>C SNV Pathogenic 449837 rs545719209 GRCh37: 6:32009787-32009787
GRCh38: 6:32042010-32042010
6 ROBO2 NM_001128929.3(ROBO2):c.1033C>T (p.Arg345Ter) SNV Pathogenic 998248 GRCh37: 3:77595539-77595539
GRCh38: 3:77546388-77546388
7 TNXB NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile) SNV Pathogenic 144113 rs587777683 GRCh37: 6:32016415-32016415
GRCh38: 6:32048638-32048638
8 C12orf57 NM_138425.4(C12orf57):c.53-2A>G SNV Pathogenic 242885 rs1114167293 GRCh37: 12:7053637-7053637
GRCh38: 12:6944474-6944474
9 EBF3 NM_001005463.3(EBF3):c.280_283del (p.Glu94fs) Deletion Pathogenic 375502 rs1057519521 GRCh37: 10:131761639-131761642
GRCh38: 10:129963375-129963378
10 MED13L NM_015335.4(MED13L):c.1971del (p.Asp657fs) Deletion Pathogenic 523512 rs1555247805 GRCh37: 12:116446247-116446247
GRCh38: 12:116008442-116008442
11 TNXB NM_001365276.2(TNXB):c.8995del (p.Arg2999fs) Deletion Pathogenic 997467 GRCh37: 6:32020567-32020567
GRCh38: 6:32052790-32052790
12 NIPBL NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) SNV Likely pathogenic 978555 GRCh37: 5:36976061-36976061
GRCh38: 5:36975959-36975959
13 AFAP1L2 , VWA2 NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys) SNV Likely pathogenic 684663 rs148731211 GRCh37: 10:116046036-116046036
GRCh38: 10:114286277-114286277
14 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) Deletion Likely pathogenic 523499 rs1554844486 GRCh37: 10:76784742-76784745
GRCh38: 10:75024984-75024987
15 ROBO2 NM_001128929.3(ROBO2):c.2479C>T (p.Arg827Trp) SNV Conflicting interpretations of pathogenicity 224345 rs188582283 GRCh37: 3:77629200-77629200
GRCh38: 3:77580049-77580049
16 ROBO2 NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val) SNV Uncertain significance 224346 rs780623744 GRCh37: 3:77147438-77147438
GRCh38: 3:77098287-77098287
17 ROBO2 NM_001128929.3(ROBO2):c.3415G>A (p.Glu1139Lys) SNV Uncertain significance 931412 GRCh37: 3:77666737-77666737
GRCh38: 3:77617586-77617586
18 TNXB NM_001365276.2(TNXB):c.287T>A (p.Leu96His) SNV Uncertain significance 992504 GRCh37: 6:32065689-32065689
GRCh38: 6:32097912-32097912
19 TNXB NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser) SNV Uncertain significance 992505 GRCh37: 6:32065068-32065068
GRCh38: 6:32097291-32097291
20 ROBO2 NM_001128929.3(ROBO2):c.2882T>C (p.Ile961Thr) SNV Uncertain significance 7103 rs267607014 GRCh37: 3:77645881-77645881
GRCh38: 3:77596730-77596730
21 TNXB NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) SNV Uncertain significance 426989 rs141190850 GRCh37: 6:32063600-32063600
GRCh38: 6:32095823-32095823
22 TNXB NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) SNV Uncertain significance 827991 rs529485424 GRCh37: 6:32021195-32021195
GRCh38: 6:32053418-32053418
23 TNXB NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) SNV Uncertain significance 827991 rs529485424 GRCh37: 6:32021195-32021195
GRCh38: 6:32053418-32053418
24 TNXB NM_001365276.2(TNXB):c.5800A>C (p.Ile1934Leu) SNV Uncertain significance 1032817 GRCh37: 6:32036701-32036701
GRCh38: 6:32068924-32068924
25 ROBO2 NM_001128929.3(ROBO2):c.3962G>A (p.Arg1321Gln) SNV Uncertain significance 1033555 GRCh37: 3:77684174-77684174
GRCh38: 3:77635023-77635023
26 ROBO2 NM_001128929.3(ROBO2):c.*1890G>A SNV Uncertain significance 901019 GRCh37: 3:77697096-77697096
GRCh38: 3:77647945-77647945
27 ROBO2 NM_001128929.3(ROBO2):c.*2591G>T SNV Uncertain significance 901576 GRCh37: 3:77697797-77697797
GRCh38: 3:77648646-77648646
28 ROBO2 NM_001128929.3(ROBO2):c.1470G>A (p.Gln490=) SNV Uncertain significance 903340 GRCh37: 3:77607285-77607285
GRCh38: 3:77558134-77558134
29 ROBO2 NM_001128929.3(ROBO2):c.1695C>G (p.Thr565=) SNV Uncertain significance 903341 GRCh37: 3:77612445-77612445
GRCh38: 3:77563294-77563294
30 ROBO2 NM_001128929.3(ROBO2):c.1702G>A (p.Ala568Thr) SNV Uncertain significance 903342 GRCh37: 3:77612452-77612452
GRCh38: 3:77563301-77563301
31 ROBO2 NM_001128929.3(ROBO2):c.*850A>G SNV Uncertain significance 902610 GRCh37: 3:77696056-77696056
GRCh38: 3:77646905-77646905
32 ROBO2 NM_001128929.3(ROBO2):c.*913A>G SNV Uncertain significance 902611 GRCh37: 3:77696119-77696119
GRCh38: 3:77646968-77646968
33 ROBO2 NM_001128929.3(ROBO2):c.3333A>G (p.Gln1111=) SNV Uncertain significance 903406 GRCh37: 3:77657097-77657097
GRCh38: 3:77607946-77607946
34 ROBO2 NM_001128929.3(ROBO2):c.*2679G>A SNV Uncertain significance 903508 GRCh37: 3:77697885-77697885
GRCh38: 3:77648734-77648734
35 TNXB NM_001365276.2(TNXB):c.6544+8T>A SNV Uncertain significance 261149 rs150379644 GRCh37: 6:32035430-32035430
GRCh38: 6:32067653-32067653
36 LOC106780803 , TNXB NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) SNV Uncertain significance 626034 rs1379154957 GRCh37: 6:32013077-32013077
GRCh38: 6:32045300-32045300
37 TNXB NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) SNV Uncertain significance 626035 rs551447544 GRCh37: 6:32036210-32036210
GRCh38: 6:32068433-32068433
38 TNXB NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) SNV Uncertain significance 626036 rs184813324 GRCh37: 6:32037501-32037501
GRCh38: 6:32069724-32069724
39 TNXB NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) SNV Uncertain significance 626037 rs573740606 GRCh37: 6:32052423-32052423
GRCh38: 6:32084646-32084646
40 TNXB NM_001365276.2(TNXB):c.861G>A (p.Arg287=) SNV Uncertain significance 626191 rs1406340228 GRCh37: 6:32064769-32064769
GRCh38: 6:32096992-32096992
41 ROBO2 NM_001128929.3(ROBO2):c.266C>G (p.Thr89Ser) SNV Uncertain significance 899661 GRCh37: 3:77147321-77147321
GRCh38: 3:77098170-77098170
42 ROBO2 NM_001128929.3(ROBO2):c.*3809A>C SNV Uncertain significance 346771 rs886058896 GRCh37: 3:77699015-77699015
GRCh38: 3:77649864-77649864
43 ROBO2 NM_001128929.3(ROBO2):c.*985C>T SNV Uncertain significance 346725 rs114687906 GRCh37: 3:77696191-77696191
GRCh38: 3:77647040-77647040
44 ROBO2 NM_001128929.3(ROBO2):c.110-57790A>G SNV Uncertain significance 346666 rs886058873 GRCh37: 3:77089375-77089375
GRCh38: 3:77040224-77040224
45 ROBO2 NM_001128929.3(ROBO2):c.*2370C>T SNV Uncertain significance 346750 rs886058889 GRCh37: 3:77697576-77697576
GRCh38: 3:77648425-77648425
46 ROBO2 NM_001128929.3(ROBO2):c.*1516G>A SNV Uncertain significance 346736 rs886058883 GRCh37: 3:77696722-77696722
GRCh38: 3:77647571-77647571
47 ROBO2 NM_001128929.3(ROBO2):c.3821C>T (p.Thr1274Ile) SNV Uncertain significance 346710 rs772069288 GRCh37: 3:77684033-77684033
GRCh38: 3:77634882-77634882
48 ROBO2 NM_001128929.3(ROBO2):c.*3894A>G SNV Uncertain significance 346773 rs886058897 GRCh37: 3:77699100-77699100
GRCh38: 3:77649949-77649949
49 ROBO2 NM_001128929.3(ROBO2):c.*947C>T SNV Uncertain significance 346722 rs550745516 GRCh37: 3:77696153-77696153
GRCh38: 3:77647002-77647002
50 ROBO2 NM_001128929.3(ROBO2):c.*1915C>T SNV Uncertain significance 346742 rs886058888 GRCh37: 3:77697121-77697121
GRCh38: 3:77647970-77647970

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.7 TGFB1 AGTR2 ACE

GO Terms for Familial Vesicoureteral Reflux

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.77 TGFB1 SOX17 KAT6B EBF3 AFAP1L2
2 positive regulation of protein tyrosine kinase activity GO:0061098 9.58 AFAP1L2 ACE
3 negative regulation of cell growth GO:0030308 9.58 TGFB1 SOX17 AGTR2
4 ureteric bud development GO:0001657 9.57 TGFB1 ROBO2
5 blood vessel remodeling GO:0001974 9.56 AGTR2 ACE
6 cellular response to dexamethasone stimulus GO:0071549 9.55 TGFB1 AGTR2
7 digestive tract development GO:0048565 9.54 TGFB1 NIPBL
8 aortic valve morphogenesis GO:0003180 9.52 TGFB1 ROBO2
9 face morphogenesis GO:0060325 9.51 TGFB1 NIPBL
10 endoderm development GO:0007492 9.49 TGFB1 SOX17
11 regulation of blood vessel diameter GO:0097746 9.48 AGTR2 ACE
12 regulation of embryonic development GO:0045995 9.46 SOX17 NIPBL
13 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.43 TGFB1 AGTR2
14 metanephros development GO:0001656 9.33 SOX17 ROBO2 NIPBL
15 positive regulation of histone deacetylation GO:0031065 9.32 TGFB1 NIPBL
16 regulation of protein import into nucleus GO:0042306 9.26 TGFB1 AGTR2
17 gall bladder development GO:0061010 8.96 SOX17 NIPBL
18 mononuclear cell proliferation GO:0032943 8.62 TGFB1 ACE

Sources for Familial Vesicoureteral Reflux

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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