WAGR
MCID: WLM014
MIFTS: 54

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 57 25 29 6
Wagr Syndrome 57 12 75 53 25 59 55 44 15 72
Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome 53 59
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome 53 40
Chromosome 11p13 Deletion Syndrome 57 12
Chromosome 11p Deletion Syndrome 53 72
11p Partial Monosomy Syndrome 12 25
11p Deletion Syndrome 53 25
Deletion 11p13 59 72
Wagr Complex 53 25
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Syndrome 57
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 53
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 25
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome 25
Wagr Contiguous Gene Syndrome 25
Monosomy 11p13 59
Del(11)(p13) 59
Agr Triad 53
Wagr 57

Characteristics:

Orphanet epidemiological data:

59
wagr syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
contiguous gene syndrome


HPO:

32
wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome:
Inheritance autosomal dominant inheritance somatic mutation contiguous gene syndrome


Classifications:



External Ids:

Disease Ontology 12 DOID:14515
OMIM 57 194072
MeSH 44 D017624
NCIt 50 C3718
SNOMED-CT 68 4135001
MESH via Orphanet 45 C538295 D017624
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0206115 C2931803
Orphanet 59 ORPHA893
MedGen 42 C0206115
UMLS 72 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 wilms tumor 1, 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 are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Follicle Stimulating Hormone (FSH) signaling pathway. The drug Hemostatics has been mentioned in the context of this disorder. 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 : 53 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 Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range 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 : 75 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 94)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 32.8 PAX6 ELP4
2 wilms tumor 1 32.5 WT1-AS WT1 PAX6
3 frasier syndrome 30.4 WT1-AS WT1 PAX6
4 gonadoblastoma 30.0 WT1 CAT
5 aniridia 1 28.5 WT1 PAX6 FSHB ELP4 CAT BDNF
6 chromosome 11p13 deletion syndrome, distal 12.5
7 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
8 potocki-shaffer syndrome 11.6
9 postaxial acrofacial dysostosis 11.4
10 lowe oculocerebrorenal syndrome 11.4
11 aniridia and absent patella 11.2
12 meacham syndrome 10.4 WT1-AS WT1
13 hereditary wilms' tumor 10.4 WT1 PAX6
14 pax6-related aniridia 10.4
15 denys-drash syndrome 10.4
16 wilms tumor 5 10.4
17 hermaphroditism 10.4
18 kidney disease 10.4
19 end stage renal failure 10.4
20 chronic kidney disease 10.4
21 diffuse mesangial sclerosis 10.3 WT1-AS WT1
22 cryptorchidism, unilateral or bilateral 10.3
23 body mass index quantitative trait locus 11 10.2
24 body mass index quantitative trait locus 9 10.2
25 body mass index quantitative trait locus 8 10.2
26 body mass index quantitative trait locus 4 10.2
27 body mass index quantitative trait locus 10 10.2
28 body mass index quantitative trait locus 7 10.2
29 body mass index quantitative trait locus 12 10.2
30 body mass index quantitative trait locus 14 10.2
31 body mass index quantitative trait locus 18 10.2
32 body mass index quantitative trait locus 19 10.2
33 body mass index quantitative trait locus 20 10.2
34 wilson-turner x-linked mental retardation syndrome 10.2 WT1-AS WT1
35 cataract 10.2
36 pathologic nystagmus 10.2
37 wilms tumor predisposition 10.2
38 beckwith-wiedemann syndrome 10.1
39 exostoses, multiple, type ii 10.1
40 diaphragmatic hernia, congenital 10.1
41 retinoblastoma 10.1
42 polydactyly 10.1
43 alacrima, achalasia, and mental retardation syndrome 10.1
44 ptosis 10.1
45 congenital ptosis 10.1
46 microphthalmia 10.1
47 hypospadias 10.1
48 hydrocephalus 10.1
49 familial retinoblastoma 10.1
50 acute t cell leukemia 10.1

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0008053
2 aniridia 32 hallmark (90%) HP:0000526
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
11 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
12 hearing abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000364
13 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
14 hypospadias 32 frequent (33%) HP:0000047
15 nephroblastoma 32 frequent (33%) HP:0002667
16 streak ovary 32 frequent (33%) HP:0010464
17 abnormal vagina morphology 32 frequent (33%) HP:0000142
18 displacement of the urethral meatus 32 frequent (33%) HP:0100627
19 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
20 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
21 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
22 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
23 dysfunction of lateral corticospinal tracts 59 32 occasional (7.5%) Occasional (29-5%) HP:0007299
24 gonadoblastoma 32 occasional (7.5%) HP:0000150
25 abnormality of the uterus 32 occasional (7.5%) HP:0000130
26 renal insufficiency 32 very rare (1%) HP:0000083
27 nephropathy 32 very rare (1%) HP:0000112
28 displacement of the external urethral meatus 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypospadias

Neurologic Central Nervous System:
mental retardation

Neoplasia:
nephroblastoma (wilms tumor)

Genitourinary Internal Genitalia Male:
cryptorchidism

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

MGI Mouse Phenotypes related to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.56 BDNF CAT CD151 FSHB KDM2B LGR4
2 reproductive system MP:0005389 9.1 BDNF FSHB KDM2B LGR4 PAX6 WT1

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

Drugs for Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics

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 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome Completed NCT01314560
4 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:

41
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 163)
# Title Authors PMID Year
1
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. 38 8
24519938 2014
2
PAX6-Related Aniridia 38 71
20301534 2003
3
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. 38 8
11735802 2001
4
CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. 38 8
2556343 1989
5
Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient. 38 8
2841227 1988
6
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. 8
10945603 2000
7
Role for the Wilms tumor gene in genital development? 8
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. 8
3037545 1987
9
Wilms's tumour and aniridia: clinical and cytogenetic features. 8
6289758 1982
10
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. 8
6127950 1982
11
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes. 8
6278119 1982
12
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. 8
6252821 1980
13
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. 8
208044 1978
14
ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS. 8
14114111 1964
15
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. 9 38
20186791 2010
16
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. 9 38
18753648 2008
17
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. 9 38
19096215 2008
18
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. 9 38
17533022 2007
19
[Association between WAGR syndrome and diaphragmatic hernia]. 9 38
17194330 2006
20
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. 9 38
16932893 2006
21
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. 9 38
16545979 2006
22
Congenital diaphragmatic hernia in WAGR syndrome. 9 38
15779010 2005
23
WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities. 9 38
15838390 2005
24
Missense mutations in the DNA-binding region and termination codon in PAX6. 9 38
12552561 2003
25
WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. 9 38
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. 9 38
11479730 2001
27
Mutation in the PAX6 gene in twenty patients with aniridia. 9 38
10737978 2000
28
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 9 38
10022588 1999
29
Uterine anomalies in Wilms' tumor survivors. 9 38
8756386 1996
30
[Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome]. 9 38
8538037 1995
31
Aniridia: recent achievements in paediatric practice. 9 38
8529675 1995
32
A WAGR region gene between PAX-6 and FSHB expressed in fetal brain. 9 38
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. 9 38
7896291 1994
34
The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient. 9 38
7833922 1994
35
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. 9 38
7987386 1994
36
The molecular genetics of Wilms tumor: a paradigm of heterogeneity in tumor development. 9 38
8187013 1994
37
Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor. 9 38
8402654 1993
38
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. 9 38
8396067 1993
39
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. 9 38
7687865 1993
40
Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. 9 38
1331933 1992
41
Inactivation of the remaining allele of the WT1 gene in a Wilms' tumour from a WAGR patient. 9 38
1314370 1992
42
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes. 38
31361967 2019
43
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome. 38
31304537 2019
44
[Congenital aniridia in children]. 38
30983291 2019
45
The genetic architecture of aniridia and Gillespie syndrome. 38
30242502 2018
46
Nephron-sparing Surgery for Syndromic Wilms' Tumor: Robotic Approach. 38
29572054 2018
47
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 38
28321846 2017
48
Obesity in Childhood and Adolescence, Genetic Factors. 38
29668472 2017
49
Sustained endocrine profiles of a girl with WAGR syndrome. 38
29061165 2017
50
Correction: The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. 38
29059187 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 410)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 14 genes:PAX6 ; WT1 GRCh37/hg19 11p14.1-13(chr11: 29750813-32752091)x1 copy number loss Pathogenic 11:29750813-32752091 :0-0
2 WT1 NM_024426.6(WT1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs1423753702 11:32417947-32417947 11:32396401-32396401
3 WT1 NC_000011.9: g.(?_32417797)_(32439206_?)del deletion Pathogenic 11:32417797-32439206 11:32396251-32417660
4 WT1 NM_024426.6(WT1): c.334del (p.Asp112fs) deletion Pathogenic rs1554946600 11:32456573-32456573 11:32435027-32435027
5 WT1 NM_024426.6(WT1): c.682dup (p.Asp228fs) duplication Pathogenic rs1554945232 11:32450145-32450145 11:32428599-32428599
6 WT1 NC_000011.9: g.(?_32410604)_(32456891_?)del deletion Pathogenic 11:32410604-32456891 11:32389058-32435345
7 WT1 NM_024426.6(WT1): c.1149del (p.Val384fs) deletion Pathogenic rs1554939839 11:32417918-32417918 11:32396372-32396372
8 WT1 NM_024426.6(WT1): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs1554946500 11:32456429-32456429 11:32434883-32434883
9 WT1 NM_024426.6(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 11:32413513-32413513 11:32391967-32391967
10 WT1 NM_024426.6(WT1): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs121907909 11:32413578-32413578 11:32392032-32392032
11 WT1 NM_024426.6(WT1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121907906 11:32414263-32414263 11:32392717-32392717
12 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 11:31815335-31815335 11:31793787-31793787
13 WT1 NM_024426.6(WT1): c.653del (p.Arg218fs) deletion Pathogenic 11:32456254-32456254 11:32434708-32434708
14 ELP4 ; PAX6 GRCh37/hg19 11p13(chr11: 31541617-31813509) copy number loss Pathogenic 11:31541617-31813509 :0-0
15 WT1 NM_024426.6(WT1): c.882C> A (p.Tyr294Ter) single nucleotide variant Pathogenic 11:32449507-32449507 11:32427961-32427961
16 WT1 NC_000011.9: g.(?_32410594)_(32456901_?)del deletion Pathogenic 11:32410594-32456901 11:32389048-32435355
17 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121907922 11:31811483-31811483 11:31789935-31789935
18 WT1 NM_024426.6(WT1): c.965+1G> A single nucleotide variant Likely pathogenic 11:32439122-32439122 11:32417576-32417576
19 WT1 NM_024426.6(WT1): c.1131T> C (p.Pro377=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 11:32417936-32417936 11:32396390-32396390
20 WT1 NM_024426.6(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 11:32421544-32421544 11:32399998-32399998
21 WT1 NM_024426.6(WT1): c.760C> T (p.Pro254Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2234584 11:32450067-32450067 11:32428521-32428521
22 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 11:31812304-31812304 11:31790756-31790756
23 WT1 NM_024426.6(WT1): c.1059C> T (p.Ile353=) single nucleotide variant Conflicting interpretations of pathogenicity rs527655625 11:32421548-32421548 11:32400002-32400002
24 WT1 NM_024426.6(WT1): c.662-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 11:32450171-32450171 11:32428625-32428625
25 WT1 NM_024426.6(WT1): c.375C> T (p.Gly125=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 11:32456532-32456532 11:32434986-32434986
26 WT1 NM_024426.6(WT1): c.381C> G (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs771681406 11:32456526-32456526 11:32434980-32434980
27 WT1 NM_024426.6(WT1): c.151del (p.Ala51fs) deletion Conflicting interpretations of pathogenicity rs776155094 11:32456756-32456756 11:32435210-32435210
28 PAX6 NM_000280.4(PAX6): c.*4919_*4921delinsCACAGATTAAAAGAAATG indel Uncertain significance rs886048180 11:31806561-31806563 11:31785013-31785015
29 WT1 NM_024426.6(WT1): c.*1058G> T single nucleotide variant Uncertain significance rs886048211 11:32409546-32409546 11:32388000-32388000
30 WT1 NM_024426.6(WT1): c.*1021_*1022GT[18] short repeat Uncertain significance rs58549495 11:32409550-32409551 11:32388004-32388005
31 WT1 NM_024426.6(WT1): c.*685G> T single nucleotide variant Uncertain significance rs886048218 11:32409919-32409919 11:32388373-32388373
32 WT1 NM_024426.6(WT1): c.*614A> C single nucleotide variant Uncertain significance rs886048219 11:32409990-32409990 11:32388444-32388444
33 WT1 NM_024426.6(WT1): c.*110C> T single nucleotide variant Uncertain significance rs757474299 11:32410494-32410494 11:32388948-32388948
34 WT1 NM_024426.6(WT1): c.887+4G> A single nucleotide variant Uncertain significance rs778673400 11:32449498-32449498 11:32427952-32427952
35 WT1 NM_024426.6(WT1): c.390A> G (p.Pro130=) single nucleotide variant Uncertain significance rs886048228 11:32456517-32456517 11:32434971-32434971
36 WT1 NM_024426.6(WT1): c.162C> G (p.Ser54Arg) single nucleotide variant Uncertain significance rs776954184 11:32456745-32456745 11:32435199-32435199
37 WT1 NM_024426.6(WT1): c.-82A> C single nucleotide variant Uncertain significance rs886048236 11:32456988-32456988 11:32435442-32435442
38 WT1 NM_024426.6(WT1): c.-102C> A single nucleotide variant Uncertain significance rs886048240 11:32457008-32457008 11:32435462-32435462
39 WT1 NM_024426.6(WT1): c.-110C> T single nucleotide variant Uncertain significance rs886048241 11:32457016-32457016 11:32435470-32435470
40 WT1 NM_024426.6(WT1): c.-114T> A single nucleotide variant Uncertain significance rs886048242 11:32457020-32457020 11:32435474-32435474
41 WT1 NM_024426.6(WT1): c.-135G> A single nucleotide variant Uncertain significance rs886048243 11:32457041-32457041 11:32435495-32435495
42 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 11:31807121-31807121 11:31785573-31785573
43 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 11:31807574-31807574 11:31786026-31786026
44 PAX6 NM_000280.4(PAX6): c.*2393T> C single nucleotide variant Uncertain significance rs886048193 11:31809089-31809089 11:31787541-31787541
45 PAX6 NM_000280.4(PAX6): c.*2387G> T single nucleotide variant Uncertain significance rs886048194 11:31809095-31809095 11:31787547-31787547
46 PAX6 NM_000280.4(PAX6): c.*2385G> C single nucleotide variant Uncertain significance rs886048195 11:31809097-31809097 11:31787549-31787549
47 PAX6 NM_000280.4(PAX6): c.*2551C> T single nucleotide variant Uncertain significance rs886048190 11:31808931-31808931 11:31787383-31787383
48 PAX6 NM_000280.4(PAX6): c.*1053T> C single nucleotide variant Uncertain significance rs886048197 11:31810429-31810429 11:31788881-31788881
49 PAX6 NM_000280.4(PAX6): c.*939A> G single nucleotide variant Uncertain significance rs886048198 11:31810543-31810543 11:31788995-31788995
50 PAX6 NM_000280.4(PAX6): c.*356T> A single nucleotide variant Uncertain significance rs774392481 11:31811126-31811126 11:31789578-31789578

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

7
# CNVD ID Chromosom 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 10.92 WT1 PAX6 LGR4
2 10.39 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 hormone-mediated signaling pathway GO:0009755 9.32 LGR4 FSHB
2 ureteric bud development GO:0001657 9.26 WT1 CAT
3 male genitalia development GO:0030539 9.16 WT1 LGR4
4 embryonic camera-type eye morphogenesis GO:0048596 8.96 PAX6 KDM2B
5 negative regulation of neural precursor cell proliferation GO:2000178 8.62 PAX6 KDM2B

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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