MCID: WLM014
MIFTS: 53

Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome

Categories: Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Mental 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 38 12 76 53 25 59 55 6 44 15 73
Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Syndrome 57 13
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 73
11p Partial Monosomy Syndrome 12 25
11p Deletion Syndrome 53 25
Deletion 11p13 59 73
Wagr Complex 53 25
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 12
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:
autosomal dominant
somatic mutation

Miscellaneous:
contiguous gene syndrome


HPO:

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


Classifications:



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

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 mutationinherited. Treatment of WAGR syndrome is aimed at addressing the specific symptoms that are present in each individual.

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 (Wilms Tumor 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. The drug Hemostatics has been mentioned in the context of this disorder. Affiliated tissues include Kidney, eye and ovary, and related phenotypes are obesity and ptosis

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).

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.

Wikipedia : 76 WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour... more...

Description from OMIM: 194072

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

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...

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)

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Eyes:
aniridia

Genitourinary Kidneys:
renal failure
nephroblastoma (wilms tumor)

Genitourinary Internal Genitalia Female:
uterine malformations


Clinical features from OMIM:

194072

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

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
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 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
15 aplasia/hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0008053
16 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
17 dysfunction of lateral corticospinal tracts 59 32 occasional (7.5%) Occasional (29-5%) HP:0007299
18 displacement of the external urethral meatus 59 32 frequent (33%) Frequent (79-30%) HP:0100627
19 renal insufficiency 32 very rare (1%) HP:0000083
20 nephropathy 32 very rare (1%) HP:0000112
21 gonadoblastoma 32 occasional (7.5%) HP:0000150
22 hypospadias 32 frequent (33%) HP:0000047
23 abnormality of the uterus 32 occasional (7.5%) HP:0000130
24 abnormality of the vagina 32 frequent (33%) HP:0000142
25 nephroblastoma 32 frequent (33%) HP:0002667
26 streak ovary 32 frequent (33%) HP:0010464
27 aniridia 32 hallmark (90%) HP:0000526

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 embryo MP:0005380 9.8 ALX4 IGF2 KDM2B LGR4 PAX6 WT1
2 endocrine/exocrine gland MP:0005379 9.73 BDNF FSHB IGF2 LGR4 PAX6 WT1
3 no phenotypic analysis MP:0003012 9.55 WT1 BDNF IGF2 KDM2B LGR4
4 reproductive system MP:0005389 9.5 BDNF FSHB IGF2 KDM2B LGR4 PAX6
5 vision/eye MP:0005391 9.1 ALX4 BDNF IGF2 KDM2B LGR4 PAX6

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 Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
2 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560 Not Applicable
3 Rare Disease Patient Registry & Natural History Study - 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, Brain, Fetal Brain
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 all 48)
# Title Authors Year
1
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. ( 28231309 )
2017
2
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
3
The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. ( 28859078 )
2017
4
Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report. ( 27882234 )
2016
5
A Case of WAGR Syndrome with Peters' Anomaly. ( 25902081 )
2015
6
A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning. ( 26109842 )
2015
7
Prenatal Diagnosis of WAGR Syndrome. ( 26605098 )
2015
8
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6a88Mb including PAX6, WT1, and PRRG4. ( 24357251 )
2013
9
Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome. ( 23152176 )
2012
10
Billateral polycystic kidneys in a girl with WAGR syndrome. ( 21660403 )
2011
11
WAGR syndrome with tetralogy of Fallot and hydrocephalus. ( 21364466 )
2011
12
Clinical utility gene card for: WAGR syndrome. ( 21224893 )
2011
13
Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome. ( 21824479 )
2011
14
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation. ( 20635368 )
2010
15
Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. ( 19004815 )
2009
16
WAGR syndrome--a case report. ( 20405644 )
2009
17
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. ( 19096215 )
2008
18
Brain-derived neurotrophic factor and obesity in the WAGR syndrome. ( 18753648 )
2008
19
Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. ( 18293378 )
2008
20
[Multicystic renal tumor in a patient with WAGR syndrome]. ( 17295033 )
2007
21
WAGR syndrome--a case report. ( 17899969 )
2007
22
Complete sex reversal in a WAGR syndrome patient. ( 17935232 )
2007
23
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. ( 17533022 )
2007
24
WAGR syndrome: is the 'R' always justified? ( 17159522 )
2007
25
[Association between WAGR syndrome and diaphragmatic hernia]. ( 17194330 )
2006
26
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. ( 16545979 )
2006
27
Congenital diaphragmatic hernia in WAGR syndrome. ( 15779010 )
2005
28
Bilateral preaxial polydactyly in a WAGR syndrome patient. ( 15742368 )
2005
29
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. ( 15779023 )
2005
30
WAGR syndrome: a clinical review of 54 cases. ( 16199712 )
2005
31
WAGR syndrome with deletion of chromosome 11p11.2-13. ( 15314606 )
2004
32
Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. ( 15354948 )
2004
33
A submicroscopic deletion of 11p13 associated with the WAGR syndrome. ( 12702167 )
2003
34
Morbid obesity and hyperphagia in the WAGR syndrome. ( 11822711 )
2002
35
Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). ( 11807873 )
2002
36
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. ( 12150218 )
2002
37
Anaesthetic management for a patient with WAGR syndrome. ( 11766686 )
2001
38
A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. ( 11735802 )
2001
39
WAGR syndrome in a baby--the result of 6-MP treatment in a father affected by Crohn's disease? ( 11197266 )
2001
40
Obesity and WAGR syndrome. ( 10649802 )
2000
41
Renal pathology in WAGR syndrome. ( 9025899 )
1996
42
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). ( 8558565 )
1995
43
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. ( 7987386 )
1994
44
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. ( 7896291 )
1994
45
Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. ( 8396067 )
1993
46
Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. ( 7687865 )
1993
47
Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. ( 1331933 )
1992
48
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. ( 2574149 )
1989

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 645)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
2 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh38 Chromosome 11, 32392032: 32392032
3 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh37 Chromosome 11, 32456784: 32456784
4 WT1 NM_024426.4(WT1): c.108G> C (p.Pro36=) single nucleotide variant Conflicting interpretations of pathogenicity rs555140661 GRCh38 Chromosome 11, 32435238: 32435238
5 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh37 Chromosome 11, 32456562: 32456562
6 WT1 NM_024426.4(WT1): c.330C> T (p.Pro110=) single nucleotide variant Benign rs1799925 GRCh38 Chromosome 11, 32435016: 32435016
7 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh37 Chromosome 11, 32417936: 32417936
8 WT1 NM_024426.4(WT1): c.1116T> C (p.Pro372=) single nucleotide variant Conflicting interpretations of pathogenicity rs151034312 GRCh38 Chromosome 11, 32396390: 32396390
9 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh37 Chromosome 11, 32417945: 32417945
10 WT1 NM_024426.4(WT1): c.1107A> G (p.Arg369=) single nucleotide variant Benign rs16754 GRCh38 Chromosome 11, 32396399: 32396399
11 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
12 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
13 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh37 Chromosome 11, 32410704: 32410704
14 WT1 NM_024426.4(WT1): c.1454G> A (p.Arg485Gln) single nucleotide variant Uncertain significance rs139893274 GRCh38 Chromosome 11, 32389158: 32389158
15 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh38 Chromosome 11, 32396416: 32396416
16 WT1 NM_024426.4(WT1): c.1099-9T> C single nucleotide variant Benign/Likely benign rs5030274 GRCh37 Chromosome 11, 32417962: 32417962
17 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh38 Chromosome 11, 32417597: 32417597
18 WT1 NM_024426.4(WT1): c.930C> T (p.Asn310=) single nucleotide variant Likely benign rs775085343 GRCh37 Chromosome 11, 32439143: 32439143
19 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh38 Chromosome 11, 32428054: 32428054
20 WT1 NM_024426.4(WT1): c.774G> A (p.Glu258=) single nucleotide variant Likely benign rs878855087 GRCh37 Chromosome 11, 32449600: 32449600
21 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh38 Chromosome 11, 32428625: 32428625
22 WT1 NM_024426.4(WT1): c.647-6C> A single nucleotide variant Conflicting interpretations of pathogenicity rs372418954 GRCh37 Chromosome 11, 32450171: 32450171
23 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh38 Chromosome 11, 32434694: 32434694
24 WT1 NM_024426.4(WT1): c.646+6T> C single nucleotide variant Uncertain significance rs557166021 GRCh37 Chromosome 11, 32456240: 32456240
25 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh38 Chromosome 11, 32434818: 32434818
26 WT1 NM_024426.4(WT1): c.528C> T (p.Arg176=) single nucleotide variant Benign rs369870529 GRCh37 Chromosome 11, 32456364: 32456364
27 WT1 NM_024426.4(WT1): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs878855085 GRCh38 Chromosome 11, 32434945: 32434945
28 WT1 NM_024426.4(WT1): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs878855085 GRCh37 Chromosome 11, 32456491: 32456491
29 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh38 Chromosome 11, 32434986: 32434986
30 WT1 NM_024426.4(WT1): c.360C> T (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs776209354 GRCh37 Chromosome 11, 32456532: 32456532
31 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh38 Chromosome 11, 32435052: 32435052
32 WT1 NM_024426.4(WT1): c.294C> A (p.Gly98=) single nucleotide variant Benign/Likely benign rs547333427 GRCh37 Chromosome 11, 32456598: 32456598
33 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh38 Chromosome 11, 32435145: 32435145
34 WT1 NM_024426.4(WT1): c.201G> T (p.Gln67His) single nucleotide variant Benign/Likely benign rs5030135 GRCh37 Chromosome 11, 32456691: 32456691
35 WT1 NM_024426.4(WT1): c.178G> A (p.Gly60Arg) single nucleotide variant Uncertain significance rs374404615 GRCh38 Chromosome 11, 32435168: 32435168
36 WT1 NM_024426.4(WT1): c.178G> A (p.Gly60Arg) single nucleotide variant Uncertain significance rs374404615 GRCh37 Chromosome 11, 32456714: 32456714
37 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh38 Chromosome 11, 32435180: 32435180
38 WT1 NM_024426.4(WT1): c.166C> A (p.Arg56=) single nucleotide variant Benign/Likely benign rs2234581 GRCh37 Chromosome 11, 32456726: 32456726
39 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh38 Chromosome 11, 32435278: 32435278
40 WT1 NM_024426.4(WT1): c.68G> A (p.Gly23Glu) single nucleotide variant Uncertain significance rs751641518 GRCh37 Chromosome 11, 32456824: 32456824
41 WT1 NM_024426.4(WT1): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs878855086 GRCh38 Chromosome 11, 32435291: 32435291
42 WT1 NM_024426.4(WT1): c.55C> T (p.Arg19Cys) single nucleotide variant Uncertain significance rs878855086 GRCh37 Chromosome 11, 32456837: 32456837
43 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
44 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
45 WT1 NM_024426.4(WT1): c.1059A> G (p.Gln353=) single nucleotide variant Benign/Likely benign rs2234590 GRCh37 Chromosome 11, 32421533: 32421533
46 WT1 NM_024426.4(WT1): c.1059A> G (p.Gln353=) single nucleotide variant Benign/Likely benign rs2234590 GRCh38 Chromosome 11, 32399987: 32399987
47 WT1 NM_024426.4(WT1): c.681C> T (p.Ser227=) single nucleotide variant Benign/Likely benign rs9332974 GRCh38 Chromosome 11, 32428585: 32428585
48 WT1 NM_024426.4(WT1): c.681C> T (p.Ser227=) single nucleotide variant Benign/Likely benign rs9332974 GRCh37 Chromosome 11, 32450131: 32450131
49 WT1 NM_024426.4(WT1): c.594C> T (p.Asn198=) single nucleotide variant Benign/Likely benign rs2234583 GRCh37 Chromosome 11, 32456298: 32456298
50 WT1 NM_024426.4(WT1): c.594C> T (p.Asn198=) single nucleotide variant Benign/Likely benign rs2234583 GRCh38 Chromosome 11, 32434752: 32434752

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 LGR4 PAX6 WT1
2 10.88 IGF2 PAX6
3 10.39 BDNF FSHB

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 9.65 ALX4 FSHB IGF2 PAX6 WT1
2 digestive tract development GO:0048565 9.37 ALX4 LGR4
3 hair follicle development GO:0001942 9.32 ALX4 LGR4
4 male genitalia development GO:0030539 9.16 LGR4 WT1
5 embryonic camera-type eye morphogenesis GO:0048596 8.96 KDM2B PAX6
6 negative regulation of neural precursor cell proliferation GO:2000178 8.62 KDM2B PAX6

Molecular functions 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 HMG box domain binding GO:0071837 8.62 ALX4 PAX6

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

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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