WAGR
MCID: WLM014
MIFTS: 52

Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome (WAGR)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

MalaCards integrated aliases for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

Name: Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 56 25 29 6
Wagr Syndrome 56 12 74 52 25 58 54 43 15 71
Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome 52 58
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome 52 39
Chromosome 11p13 Deletion Syndrome 56 12
Chromosome 11p Deletion Syndrome 52 71
11p Partial Monosomy Syndrome 12 25
11p Deletion Syndrome 52 25
Deletion 11p13 58 71
Wagr Complex 52 25
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Syndrome 56
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 12
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation 13
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome 52
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 25
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome 25
Wagr Contiguous Gene Syndrome 25
Monosomy 11p13 58
Del(11)(p13) 58
Agr Triad 52
Wagr 56

Characteristics:

Orphanet epidemiological data:

58
wagr syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
contiguous gene syndrome


HPO:

31
wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome:
Inheritance autosomal dominant inheritance somatic mutation contiguous gene syndrome


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14515
OMIM 56 194072
MeSH 43 D017624
NCIt 49 C3718
SNOMED-CT 67 715215007
MESH via Orphanet 44 C538295 D017624
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0206115 C2931803
Orphanet 58 ORPHA893
MedGen 41 C0206115
UMLS 71 C0206115 C0812435 C2931803

Summaries for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Genetics Home Reference : 25 WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation). People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus). Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome than in affected females. The most common genitourinary anomaly in affected males is undescended testes (cryptorchidism). Females may not have functional ovaries and instead have undeveloped clumps of tissue called streak gonads. Females may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term. Another common feature of WAGR syndrome is intellectual disability. Affected individuals often have difficulty processing, learning, and properly responding to information. Some individuals with WAGR syndrome also have psychiatric or behavioral problems including depression, anxiety, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism spectrum disorder that affects communication and social interaction. Other signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome.

MalaCards based summary : Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome, also known as wagr syndrome, is related to aniridia 2 and pax6-related aniridia, and has symptoms including genitourinary signs and symptoms An important gene associated with Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways is Follicle Stimulating Hormone (FSH) signaling pathway. Affiliated tissues include Kidney, eye and ovary, and related phenotypes are aplasia/hypoplasia of the iris and aniridia

Disease Ontology : 12 A chromosomal deletion syndrome that is a nephroblastoma that results in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.

NIH Rare Diseases : 52 WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability . WAGR is an acronym for W ilms tumor , A niridia , G enitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and R ange of developmental delays . A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11 . In most cases, this genetic change occurs spontaneously during early embryonic development (de novo ) for unknown reasons (sporadic). Only rarely is the mutation inherited . Treatment of WAGR syndrome is aimed at addressing the specific symptoms that are present in each individual.

Wikipedia : 74 WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour... more...

More information from OMIM: 194072

Related Diseases for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Diseases related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 33.0 PAX6 ELP4
2 pax6-related aniridia 31.3 WT1 PAX6
3 wilms tumor 5 31.2 WT1 PAX6
4 isolated aniridia 30.8 PAX6 FOXC1
5 dopamine beta-hydroxylase deficiency 30.7 WT1 PAX6
6 frasier syndrome 30.2 WT1 LOC107982234
7 aniridia 1 29.3 WT1 RCN1 PRRG4 PAX6 MPPED2 MPPED1
8 chromosome 11p13 deletion syndrome, distal 12.5
9 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
10 potocki-shaffer syndrome 11.6
11 wilms tumor 1 11.5
12 postaxial acrofacial dysostosis 11.4
13 lowe oculocerebrorenal syndrome 11.4
14 aniridia and absent patella 11.2
15 nephrotic syndrome, type 4 10.5 WT1 LOC107982234
16 meacham syndrome 10.5 WT1 LOC107982234
17 ovarian gonadoblastoma 10.5 WT1 DMRT2
18 hydrophthalmos 10.4 PAX6 FOXC1
19 axenfeld-rieger syndrome, type 1 10.4 PAX6 FOXC1
20 sclerocornea 10.4 PAX6 FOXC1
21 denys-drash syndrome 10.4
22 hermaphroditism 10.4
23 kidney disease 10.4
24 end stage renal disease 10.4
25 chronic kidney disease 10.4
26 juvenile glaucoma 10.4 PAX6 FOXC1
27 coloboma of optic nerve 10.3 PAX6 IMMP1L DNAJC24 DCDC1
28 keratitis, hereditary 10.3 PAX6 LOC106014249 FOXC1 ELP4
29 gillespie syndrome 10.3 PAX6 IMMP1L FOXC1 DNAJC24
30 cryptorchidism, unilateral or bilateral 10.3
31 intestinal atresia 10.3 PAX6 FOXC1
32 body mass index quantitative trait locus 11 10.2
33 body mass index quantitative trait locus 9 10.2
34 body mass index quantitative trait locus 8 10.2
35 body mass index quantitative trait locus 4 10.2
36 body mass index quantitative trait locus 10 10.2
37 body mass index quantitative trait locus 7 10.2
38 body mass index quantitative trait locus 12 10.2
39 body mass index quantitative trait locus 14 10.2
40 body mass index quantitative trait locus 18 10.2
41 body mass index quantitative trait locus 19 10.2
42 body mass index quantitative trait locus 20 10.2
43 pathologic nystagmus 10.2
44 coloboma of macula 10.2 PAX6 IMMP1L FOXC1
45 axenfeld-rieger syndrome, type 3 10.2 PAX6 FOXC1
46 gonadoblastoma 10.2
47 ptosis 10.2
48 cataract 10.2
49 wilms tumor predisposition 10.2
50 benign epilepsy with centrotemporal spikes 10.1 PAX6 IMMP1L ELP4 DNAJC24 DCDC1 BDNF

Graphical network of the top 20 diseases related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:



Diseases related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome

Symptoms & Phenotypes for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Human phenotypes related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0008053
2 aniridia 31 hallmark (90%) HP:0000526
3 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
9 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
10 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
14 hypospadias 31 frequent (33%) HP:0000047
15 nephroblastoma 31 frequent (33%) HP:0002667
16 streak ovary 31 frequent (33%) HP:0010464
17 abnormal vagina morphology 31 frequent (33%) HP:0000142
18 displacement of the urethral meatus 31 frequent (33%) HP:0100627
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
21 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
22 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
23 dysfunction of lateral corticospinal tracts 58 31 occasional (7.5%) Occasional (29-5%) HP:0007299
24 gonadoblastoma 31 occasional (7.5%) HP:0000150
25 abnormality of the uterus 31 occasional (7.5%) HP:0000130
26 nephropathy 31 very rare (1%) HP:0000112
27 renal insufficiency 31 very rare (1%) HP:0000083
28 displacement of the external urethral meatus 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Neurologic Central Nervous System:
mental retardation

Neoplasia:
nephroblastoma (wilms tumor)

Growth Weight:
obesity

Head And Neck Eyes:
aniridia

Genitourinary Kidneys:
renal failure
nephroblastoma (wilms tumor)

Genitourinary Internal Genitalia Female:
uterine malformations

Clinical features from OMIM:

194072

UMLS symptoms related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:


genitourinary signs and symptoms

Drugs & Therapeutics for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108
2 Registry for Patients With WT1 Mutation Associated Diseases Completed NCT01252901
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome

Cochrane evidence based reviews: wagr syndrome

Genetic Tests for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Genetic tests related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 29 PAX6 WT1

Anatomical Context for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

MalaCards organs/tissues related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

40
Eye, Ovary, Kidney, Testes, Uterus, Heart, Pancreas
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Metanephric Mesenchyme Metanephric Mesenchyme Cells Affected by disease

Publications for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Articles related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

(show top 50) (show all 166)
# Title Authors PMID Year
1
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. 61 56
24519938 2014
2
PAX6-Related Aniridia 61 6
20301534 2003
3
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. 56 61
11735802 2001
4
CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. 61 56
2556343 1989
5
Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient. 61 56
2841227 1988
6
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. 56
10945603 2000
7
Role for the Wilms tumor gene in genital development? 56
1973540 1990
8
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. 56
3037545 1987
9
Wilms's tumour and aniridia: clinical and cytogenetic features. 56
6289758 1982
10
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. 56
6127950 1982
11
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes. 56
6278119 1982
12
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. 56
6252821 1980
13
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. 56
208044 1978
14
ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS. 56
14114111 1964
15
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. 61 54
20186791 2010
16
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. 61 54
18753648 2008
17
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. 54 61
19096215 2008
18
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. 54 61
17533022 2007
19
[Association between WAGR syndrome and diaphragmatic hernia]. 54 61
17194330 2006
20
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 61 54
16932893 2006
21
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. 54 61
16545979 2006
22
Congenital diaphragmatic hernia in WAGR syndrome. 61 54
15779010 2005
23
WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities. 54 61
15838390 2005
24
Missense mutations in the DNA-binding region and termination codon in PAX6. 61 54
12552561 2003
25
WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. 54 61
11912180 2002
26
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. 54 61
11479730 2001
27
Mutation in the PAX6 gene in twenty patients with aniridia. 61 54
10737978 2000
28
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 61 54
10022588 1999
29
Uterine anomalies in Wilms' tumor survivors. 61 54
8756386 1996
30
[Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome]. 54 61
8538037 1995
31
Aniridia: recent achievements in paediatric practice. 54 61
8529675 1995
32
A WAGR region gene between PAX-6 and FSHB expressed in fetal brain. 61 54
7527372 1994
33
A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome. 54 61
7896291 1994
34
The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient. 54 61
7833922 1994
35
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. 61 54
7987386 1994
36
The molecular genetics of Wilms tumor: a paradigm of heterogeneity in tumor development. 61 54
8187013 1994
37
Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor. 61 54
8402654 1993
38
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. 61 54
8396067 1993
39
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. 54 61
7687865 1993
40
Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. 61 54
1331933 1992
41
Inactivation of the remaining allele of the WT1 gene in a Wilms' tumour from a WAGR patient. 61 54
1314370 1992
42
Results of treatment for patients with multicentric or bilaterally predisposed unilateral Wilms tumor (AREN0534): A report from the Children's Oncology Group. 61
32459384 2020
43
Bilateral aniridia and congenital ureteral valve: Role of genetic testing. 61
32056389 2020
44
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes. 61
31361967 2020
45
[WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report]. 61
31560501 2019
46
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome. 61
31304537 2019
47
The genetic architecture of aniridia and Gillespie syndrome. 61
30242502 2019
48
[Congenital aniridia in children]. 61
30983291 2019
49
Nephron-sparing Surgery for Syndromic Wilms' Tumor: Robotic Approach. 61
29572054 2018
50
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 61
28321846 2017

Variations for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

ClinVar genetic disease variations for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

6 (show top 50) (show all 508) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)SNV Pathogenic 449416 rs1423753702 11:32417947-32417947 11:32396401-32396401
2 WT1 NC_000011.10:g.(?_32396251)_(32417660_?)deldeletion Pathogenic 476672 11:32417797-32439206 11:32396251-32417660
3 WT1 NM_024426.6(WT1):c.334del (p.Asp112fs)deletion Pathogenic 476700 rs1554946600 11:32456573-32456573 11:32435027-32435027
4 WT1 NM_024426.6(WT1):c.682dup (p.Asp228fs)duplication Pathogenic 476713 rs1554945232 11:32450144-32450145 11:32428598-32428599
5 WT1 NC_000011.10:g.(?_32389058)_(32435345_?)deldeletion Pathogenic 543163 11:32410604-32456891 11:32389058-32435345
6 WT1 NM_024426.6(WT1):c.1149del (p.Val384fs)deletion Pathogenic 543120 rs1554939839 11:32417918-32417918 11:32396372-32396372
7 WT1 NM_024426.6(WT1):c.478C>T (p.Gln160Ter)SNV Pathogenic 543125 rs1554946500 11:32456429-32456429 11:32434883-32434883
8 WT1 NM_024426.6(WT1):c.653del (p.Arg218fs)deletion Pathogenic 571628 rs1565000973 11:32456254-32456254 11:32434708-32434708
9 ELP4 , PAX6 GRCh37/hg19 11p13(chr11:31541617-31813509)copy number loss Pathogenic 625561 11:31541617-31813509
10 WT1 NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)SNV Pathogenic 645008 11:32449507-32449507 11:32427961-32427961
11 WT1 NC_000011.10:g.(?_32389048)_(32435355_?)deldeletion Pathogenic 665054 11:32410594-32456901 11:32389048-32435355
12 WT1 NC_000011.10:g.(?_32434690)_(32435345_?)deldeletion Pathogenic 833107 11:32456236-32456891
13 WT1 NC_000011.10:g.(?_32396247)_(32400054_?)deldeletion Pathogenic 833202 11:32417793-32421600
14 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)SNV Pathogenic 3487 rs121907900 11:32413566-32413566 11:32392020-32392020
15 WT1 NM_024426.6(WT1):c.1447+5G>ASNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
16 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)SNV Pathogenic 3494 rs121907909 11:32413578-32413578 11:32392032-32392032
17 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
18 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
19 subset of 14 genes: PAX6 , WT1 GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1copy number loss Pathogenic 376753 11:29750813-32752091
20 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
21 WT1 NM_024426.6(WT1):c.965+1G>ASNV Likely pathogenic 661942 11:32439122-32439122 11:32417576-32417576
22 WT1 NM_024426.6(WT1):c.1568G>A (p.Ter523=)SNV Conflicting interpretations of pathogenicity 515922 rs148856160 11:32410605-32410605 11:32389059-32389059
23 PAX6 NM_001310159.1(PAX6):c.930A>T (p.Thr310=)SNV Conflicting interpretations of pathogenicity 878639 11:31815088-31815088 11:31793540-31793540
24 PAX6 NM_001310159.1(PAX6):c.867T>C (p.Ser289=)SNV Conflicting interpretations of pathogenicity 878640 11:31815249-31815249 11:31793701-31793701
25 PAX6 NM_001310159.1(PAX6):c.275G>A (p.Arg92Gln)SNV Conflicting interpretations of pathogenicity 877705 11:31823191-31823191 11:31801643-31801643
26 PAX6 NM_019040.5(ELP4):c.*2982G>ASNV Conflicting interpretations of pathogenicity 878113 11:31808054-31808054 11:31786506-31786506
27 WT1 NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)SNV Conflicting interpretations of pathogenicity 41847 rs142059681 11:32421544-32421544 11:32399998-32399998
28 WT1 NM_024426.6(WT1):c.760C>T (p.Pro254Ser)SNV Conflicting interpretations of pathogenicity 135453 rs2234584 11:32450067-32450067 11:32428521-32428521
29 WT1 NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)SNV Conflicting interpretations of pathogenicity 135455 rs147241955 11:32417913-32417913 11:32396367-32396367
30 WT1 NM_024426.6(WT1):c.124G>A (p.Gly42Ser)SNV Conflicting interpretations of pathogenicity 543129 rs762288656 11:32456783-32456783 11:32435237-32435237
31 WT1 NM_024426.6(WT1):c.402G>A (p.Pro134=)SNV Conflicting interpretations of pathogenicity 721377 11:32456505-32456505 11:32434959-32434959
32 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
33 WT1 NM_024426.6(WT1):c.1059C>T (p.Ile353=)SNV Conflicting interpretations of pathogenicity 290725 rs527655625 11:32421548-32421548 11:32400002-32400002
34 PAX6 NM_019040.5(ELP4):c.*1783T>GSNV Conflicting interpretations of pathogenicity 304292 rs140971065 11:31806855-31806855 11:31785307-31785307
35 WT1 NM_024426.6(WT1):c.696C>T (p.Ser232=)SNV Conflicting interpretations of pathogenicity 261714 rs9332974 11:32450131-32450131 11:32428585-32428585
36 WT1 NM_024426.6(WT1):c.381C>G (p.Pro127=)SNV Conflicting interpretations of pathogenicity 261711 rs771681406 11:32456526-32456526 11:32434980-32434980
37 PAX6 NM_019040.5(ELP4):c.*3092T>CSNV Conflicting interpretations of pathogenicity 304308 rs371438311 11:31808164-31808164 11:31786616-31786616
38 PAX6 NM_019040.5(ELP4):c.*5123T>ASNV Conflicting interpretations of pathogenicity 304340 rs576321279 11:31810195-31810195 11:31788647-31788647
39 WT1 NM_024426.6(WT1):c.123G>C (p.Pro41=)SNV Conflicting interpretations of pathogenicity 193453 rs555140661 11:32456784-32456784 11:32435238-32435238
40 WT1 NM_024426.6(WT1):c.1131T>C (p.Pro377=)SNV Conflicting interpretations of pathogenicity 198590 rs151034312 11:32417936-32417936 11:32396390-32396390
41 WT1 NM_024426.6(WT1):c.662-6C>ASNV Conflicting interpretations of pathogenicity 241486 rs372418954 11:32450171-32450171 11:32428625-32428625
42 WT1 NM_024426.6(WT1):c.375C>T (p.Gly125=)SNV Conflicting interpretations of pathogenicity 241481 rs776209354 11:32456532-32456532 11:32434986-32434986
43 WT1 NM_024426.6(WT1):c.309C>A (p.Gly103=)SNV Conflicting interpretations of pathogenicity 241480 rs547333427 11:32456598-32456598 11:32435052-32435052
44 WT1 NM_024426.6(WT1):c.785G>A (p.Gly262Asp)SNV Conflicting interpretations of pathogenicity 406688 rs372225738 11:32449604-32449604 11:32428058-32428058
45 WT1 NM_024426.6(WT1):c.1124G>A (p.Arg375His)SNV Conflicting interpretations of pathogenicity 406692 rs554416372 11:32417943-32417943 11:32396397-32396397
46 WT1 NM_024426.6(WT1):c.1182C>T (p.Arg394=)SNV Conflicting interpretations of pathogenicity 414080 rs147939483 11:32417885-32417885 11:32396339-32396339
47 WT1 NM_024426.6(WT1):c.695G>C (p.Ser232Thr)SNV Conflicting interpretations of pathogenicity 304422 rs761913397 11:32450132-32450132 11:32428586-32428586
48 WT1 NM_024426.6(WT1):c.587G>A (p.Gly196Asp)SNV Conflicting interpretations of pathogenicity 304423 rs753112302 11:32456320-32456320 11:32434774-32434774
49 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Conflicting interpretations of pathogenicity 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
50 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Conflicting interpretations of pathogenicity 304346 rs530931929 11:31810641-31810641 11:31789093-31789093

Copy number variations for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 52917 11 21600000 43400000 Deletion WAGR syndrome
2 53564 11 31000000 36400000 Copy number WT1 WAGR syndrome
3 53572 11 31000000 36400000 Deletion WT1 WAGR syndrome
4 53585 11 31000000 36400000 Microdeletion WAGR syndrome
5 53592 11 31000000 43400000 Deletion WAGR syndrome
6 53593 11 31000000 43400000 Deletion PAX6 WAGR syndrome
7 53597 11 31000000 52900000 Deletion PAX6 WAGR syndrome
8 53599 11 31000000 52900000 Deletion WT1 WAGR syndrome
9 53658 11 31762915 31796085 Copy number PAX6 WAGR syndrome
10 53727 11 32365900 32413663 Deletion WT1 WAGR syndrome

Expression for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Search GEO for disease gene expression data for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome.

Pathways for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Pathways related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.05 FSHB BDNF

GO Terms for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

Biological processes related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 WT1 SIM1 PAX6 FSHB FOXC1 DMRT2
2 camera-type eye development GO:0043010 9.43 WT1 PAX6 FOXC1
3 positive regulation of core promoter binding GO:1904798 9.16 PAX6 FOXC1
4 lacrimal gland development GO:0032808 8.96 PAX6 FOXC1
5 ureteric bud development GO:0001657 8.92 WT1 SIM1 FOXC1 BDNF

Sources for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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