WT1
MCID: WLM002
MIFTS: 66

Wilms Tumor (WT1) malady

Genetic diseases, Rare diseases, Nephrological diseases, Cancer diseases categories
Download this MalaCard

Summaries for Wilms Tumor

About this section


Fully expand this MalaCard
MedlinePlus:33 Wilms' tumor is a rare type of kidney cancer. it causes a tumor on one or both kidneys. it usually affects children, but can happen in adults. having certain genetic conditions or birth defects can increase the risk of getting it. children that are at risk should be screened for wilms' tumor every three months until they turn eight. symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. tests that examine the kidney and blood are used to find the tumor. doctors usually diagnose and remove the tumor in surgery. other treatments include chemotherapy and radiation and biologic therapies. biologic therapy boosts your body's own ability to fight cancer. nih: national cancer institute

MalaCards based summary: Wilms Tumor, also known as wilms' tumor, is related to nephroblastoma and wagr syndrome, and has symptoms including acute abdominal pain/colic, neoplasms/tumors and kidney/renal neoplasm/tumor/carcinoma/cancer. An important gene associated with Wilms Tumor is BRCA2 (breast cancer 2, early onset), and among its related pathways is Integrated Pancreatic Cancer Pathway. The compounds nap-2 and thymidine have been mentioned in the context of this disorder. Affiliated tissues include kidney, myeloid and testes, and related mouse phenotypes are cellular and embryogenesis.

Wikipedia:65 Wilms\' (/v?lmz/) tumor, Wilms tumor, or nephroblastoma is cancer of the kidneys that typically occurs... more...

Descriptions from OMIM:46 194070,194071,194090,601363,601583

GeneReviews summary for wilms-ov

Aliases & Classifications for Wilms Tumor

About this section
Sources:
30LifeMap Discovery®, 9diseasecard, 19GeneReviews, 46OMIM, 44Novoseek, 48Orphanet, 42NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 33MedlinePlus, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Wilms Tumor, Aliases & Descriptions:

Name: Wilms Tumor 30 9 19 46 44 48
Wilms' Tumor 42 20 22 33
Nephroblastoma 42 48 62
 
Bilateral Wilms Tumor 42 62
Wt1 42 62
Renal Embryonic Tumor 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
wilms tumor:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Any age


External Ids:

MESH via Orphanet35 D009396
ICD10 via Orphanet26 C64
UMLS via Orphanet63 C0027708

Related Diseases for Wilms Tumor

About this section

Diseases in the Wilms Tumor family:

Hereditary Wilms' Tumor Familial Wilms Tumor 2
Familial Wilms Tumor Wilms Tumor 2
Wilms Tumor, Type 1 Wilms Tumor, Type 3
Wilms Tumor, Type 4

Diseases related to Wilms Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 297)
idRelated DiseaseScoreTop Affiliating Genes
1nephroblastoma32.0POU6F2, WTAP, WT1
2wagr syndrome31.9WT1
3hemihypertrophy31.6H19, WT1
4beckwith-wiedemann syndrome31.1PHLDA2, TSSC4, WT1, SLC22A18, H19, GPC3
5rhabdomyosarcoma31.0SLC22A18, WT1, H19
6gigantism31.0H19, GPC3
7breast cancer30.9BRCA2, H19, GPC3, SLC22A18, RRM1
8wilms tumor 230.9H19
9renal hamartomas nephroblastomatosis and fetal gigantism30.8DIS3L2, GPC3
10hepatoblastoma30.8GPC3, H19, SLC22A18
11lung cancer30.8RRM1
12teratoma30.7GPC3, H19
13embryonal rhabdomyosarcoma30.5H19, WT1
14dysgerminoma30.4BRCA2, WT1
15ovarian cancer30.4BRCA2, H19, GPC3
16leukemia10.9
17aniridia10.9
18myeloid leukemia10.7
19acute myeloid leukemia10.7
20denys-drash syndrome10.7
21sarcoma10.6
22horseshoe kidney10.6
23acute leukemia10.5
24embryoma10.5
25lymphoblastic leukemia10.5
26acute lymphoblastic leukemia10.5
27hypertension10.5
28pseudohermaphroditism10.5
29renal cell carcinoma10.5
30clear cell sarcoma10.5
31meacham syndrome10.4
32neuroblastoma10.4
33rhabdoid tumor10.4
34hereditary wilms' tumor10.4
35prostatitis10.4
36glioblastoma10.4
37wilms tumor and radial bilateral aplasia10.4
38familial wilms tumor10.4
39cytogenetically normal acute myeloid leukemia10.4
40mesoblastic nephroma10.4
41nephrotic syndrome, type 410.4
42silver-russell syndrome10.4H19
43hepatitis10.4
44myelodysplastic syndromes10.4
45metanephric adenoma10.4
46renal wilms' tumor10.4
47adenocarcinoma10.4
48adenoma10.4
49gonadal dysgenesis10.4
50medulloblastoma10.4

Graphical network of the top 20 diseases related to Wilms Tumor:



Diseases related to wilms tumor

Symptoms for Wilms Tumor

About this section


Clinical features from OMIM:

194070,194071,194090,601363,601583

Symptoms:

48 (show all 11)
  • acute abdominal pain/colic
  • neoplasms/tumors
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • aniridia/iris hypoplasia
  • chronic arterial hypertension
  • lymphadenopathy/polyadenopathies
  • hematuria/microhematuria
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling

HPO human phenotypes related to Wilms Tumor:

(show all 10)
id Description Frequency HPO Source Accession
1 abdominal pain hallmark (90%) HP:0002027
2 renal neoplasm hallmark (90%) HP:0009726
3 hematuria occasional (7.5%) HP:0000790
4 hypertension occasional (7.5%) HP:0000822
5 weight loss occasional (7.5%) HP:0001824
6 lymphadenopathy occasional (7.5%) HP:0002716
7 neoplasm of the liver occasional (7.5%) HP:0002896
8 abnormality of temperature regulation occasional (7.5%) HP:0004370
9 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
10 neoplasm of the lung occasional (7.5%) HP:0100526

Drugs & Therapeutics for Wilms Tumor

About this section

Drug clinical trials:

Search ClinicalTrials for Wilms Tumor

Search NIH Clinical Center for Wilms Tumor

Genetic Tests for Wilms Tumor

About this section

Genetic tests related to Wilms Tumor:

id Genetic test Affiliating Genes
1 Wilms Tumor20 WT1
2 Wilms' Tumor22

Anatomical Context for Wilms Tumor

About this section

MalaCards organs/tissues related to Wilms Tumor:

32
Kidney, Myeloid, Testes, Breast, T cells, Lung, Liver, Prostate, Bone, Ovary, Endothelial, Lymph node, Bone marrow, Thyroid, Brain, Heart, Smooth muscle, Uterus, B cells, Retina, Colon, Pancreas, Adrenal gland, Skin, Testis, Cervix, Tongue

Animal Models for Wilms Tumor or affiliated genes

About this section

MGI Mouse Phenotypes related to Wilms Tumor:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.6HOXD10, GPC3, AMER1, BRCA2, H19, PHLDA2
2MP:00053809.3GPC3, AMER1, BRCA2, H19, PHLDA2, WTAP

Publications for Wilms Tumor

About this section

Articles related to Wilms Tumor:

(show top 50)    (show all 1192)
idTitleAuthorsYear
1
Invited reply on PBC-13-0662.R2: Biomarkers and wilms tumor. (24376227)
2014
2
Identification of Wilms' tumor 1-associating protein complex and its role in alternative splicing and the cell cycle. (24100041)
2013
3
Treatment of Wilms tumor in low-income countries: challenges and potential solutions. (23902235)
2013
4
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2. (23576526)
2013
5
Study of histopathological features and proliferation markers in cases of Wilms' tumor. (22988352)
2012
6
Multicenter study identified molecular blood-born protein signatures for Wilms Tumor. (21913182)
2012
7
Surgical management of Wilms tumor with intravascular extension: a single-institution experience. (22304010)
2012
8
Identification of potential serum biomarkers for Wilms tumor after excluding confounding effects of common systemic inflammatory factors. (22160518)
2012
9
Nucleophosmin gene-based monitoring in de novo cytogenetically normal acute myeloid leukemia with nucleophosmin gene mutations: comparison with cytofluorimetric analysis and study of Wilms tumor gene 1 expression. (22475129)
2012
10
Genetic alterations of WWOX in Wilms' tumor are involved in its carcinogenesis. (22842668)
2012
11
Wilms tumor gene 1 (WT1) is a prognostic marker in high-grade uterine sarcoma. (21734473)
2011
12
Teratoid Wilms' tumor: case report of a rare variant that can mimic aggressive biology during chemotherapy. (22152898)
2011
13
The Wilms' tumor suppressor protein WT1 is processed by the serine protease HtrA2/Omi. (20122399)
2010
14
Successful treatment of late, recurrent wilms tumor with high-dose chemotherapy and autologous stem cell rescue in third complete response. (20628317)
2010
15
Mutations of the Wilms tumor 1 gene (WT1) in older patients with primary cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. (20442368)
2010
16
A case of renal cell carcinoma after successful treatment of Wilms tumor. (20850637)
2010
17
Value and difficulties of a common European strategy for recurrent Wilms' tumor. (19496704)
2009
18
Expression of multidrug resistance-related protein (MRP-1), lung resistance-related protein (LRP) and topoisomerase-II (TOPO-II) in Wilms' tumor: immunohistochemical study using TMA methodology. (18795074)
2008
19
Molecular cytogenetic anomalies and phenotype alterations in a newly established cell line from Wilms tumor with diffuse anaplasia. (18558285)
2008
20
Regulation of CRABP-II expression by MycN in Wilms tumor. (18955045)
2008
21
An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. (17204608)
2007
22
AML1-ETO rapidly induces acute myeloblastic leukemia in cooperation with the Wilms tumor gene, WT1. (16380455)
2006
23
Association of 11q loss, trisomy 12, and possible 16q loss with loss of imprinting of insulin-like growth factor-II in Wilms tumor. (16518847)
2006
24
Wilms' tumor 1 (WT1) gene in hematopoiesis: a surrogate marker of cell proliferation as a possible mechanism of action? (16040384)
2005
25
Usefulness of quantitative assessment of Wilms tumor suppressor gene expression in chronic myeloid leukemia patients undergoing imatinib therapy. (12783374)
2003
26
del11(p11-13) with overexpression of Wilms' tumor gene during leukemic transformation of myelodysplastic syndrome. (12424545)
2002
27
A functional interaction with CBP contributes to transcriptional activation by the Wilms tumor suppressor WT1. (11278547)
2001
28
Coexpression of hypoxia-inducible factor 1-alpha and vascular endothelial growth factor in Wilms' tumor. (11101729)
2000
29
WT1 splicing alterations in Wilms' tumors. (11051244)
2000
30
Wilms' tumors and malformation complexes]. (10921316)
2000
31
Immunohistochemical detection of the Wilms' tumor gene (WT1) in epithelial ovarian tumors. (10782413)
2000
32
The Wilms' tumor suppressor gene (wt1) product represses different functional classes of transcriptional activation domains. (10390530)
1999
33
Loss of imprinting of the IGF2 gene in a Wilms' tumor in an adult. (9392625)
1997
34
Midkine stimulates Wilms' tumor cell proliferation via its signaling receptor. (9193798)
1997
35
Transactivation of an intronic hematopoietic-specific enhancer of the human Wilms' tumor 1 gene by GATA-1 and c-Myb. (9361007)
1997
36
Increased expression of the Wilms tumor gene (WT1) at relapse in acute leukemia. (8943879)
1996
37
Differential function of Wilms' tumor gene WT1 splice isoforms in transcriptional regulation. (8621487)
1996
38
Alterations in the promoter-specific imprinting of the insulin-like growth factor-II gene in Wilms' tumor. (8621549)
1996
39
The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1). (8760285)
1996
40
Constitutional and somatic mutations in the WT1 gene in Wilms' tumor patients. (7591260)
1995
41
Presence of Wilms' tumor gene (wt1) transcripts and the WT1 nuclear protein in the majority of human acute leukemias. (7596170)
1995
42
P-glycoprotein status of favorable-histology Wilms' tumor predicts treatment outcome. (7965510)
1994
43
Homozygous somatic Wt1 point mutations in sporadic unilateral Wilms tumor. (8381965)
1993
44
Deletion of WT1 and WIT1 genes and loss of heterozygosity on chromosome 11p in Wilms tumors in Japan. (8393432)
1993
45
Serum biological markers and paraneoplastic syndromes in Wilms tumor. (8383282)
1993
46
WT1: a novel tumor suppressor gene inactivated in Wilms' tumor. (1313285)
1992
47
Identification of the cellular protein encoded by the human Wilms' tumor (WT1) gene. (1334252)
1992
48
T-cell lymphoma and mature nephroblastoma after synchronous bilateral Wilms' tumor. (1845941)
1991
49
Aniridia, cataracts, and Wilms' tumor in monozygous twins. (209691)
1978
50
Embryoma of kidney (Wilms' tumor) in children. (18137842)
1949

Variations for Wilms Tumor

About this section

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor:

64
id Symbol AA change Variation ID SNP ID
1WT1p.Pro181SerVAR_007739rs2234584
2WT1p.Ser223AsnVAR_007740
3WT1p.Gly253AlaVAR_007741
4WT1p.Arg366CysVAR_007745
5WT1p.Arg366HisVAR_007746
6WT1p.His373GlnVAR_007747
7WT1p.Arg394TrpVAR_007750
8WT1p.Cys355GlyVAR_043799
9WT1p.Arg394LeuVAR_043807

Clinvar genetic disease variations for Wilms Tumor:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1GPC3NM_004484.3(GPC3): c.361C> T (p.His121Tyr)single nucleotide variantPathogenicrs122453119GRCh37Chr X, 132888180: 132888180
2GPC3NM_004484.3(GPC3): c.1705G> A (p.Ala569Thr)single nucleotide variantPathogenicrs122453120GRCh37Chr X, 132670190: 132670190
3H19H19, 1.43-KB TRIPLICATIONundetermined variantPathogenic
4POU6F2NM_007252.3(POU6F2): c.573G> T (p.Gln191His)single nucleotide variantrisk factorrs121918261GRCh37Chr 7, 39379302: 39379302
5POU6F2POU6F2, C-G, EXON 1C, 5-PRIME UTRsingle nucleotide variantPathogenic
6WT1NM_001198551.1(WT1): c.242_258del17 (p.Asn81Ilefs)deletionPathogenicGRCh38Chr 11, 32417633: 32417649
7WT1NM_001198551.1(WT1): c.443delG (p.Gly148Valfs)deletionPathogenicGRCh38Chr 11, 32399967: 32399967
8WT1NM_000378.4(WT1): c.1321C> T (p.Arg441Ter)single nucleotide variantPathogenicrs121907909GRCh37Chr 11, 32413578: 32413578
9WT1NM_000378.4(WT1): c.1237C> T (p.Arg413Ter)single nucleotide variantPathogenicrs121907906GRCh37Chr 11, 32414263: 32414263
10WT1NM_000378.4(WT1): c.531C> A (p.Tyr177Ter)single nucleotide variantPathogenicrs121907911GRCh37Chr 11, 32456361: 32456361
11BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
12BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137

Expression for genes affiliated with Wilms Tumor

About this section
Expression patterns in normal tissues for genes affiliated with Wilms Tumor

Search GEO for disease gene expression data for Wilms Tumor.

Pathways for genes affiliated with Wilms Tumor

About this section

Pathways related to Wilms Tumor according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1WT1, BRCA2, RRM1

Compounds for genes affiliated with Wilms Tumor

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Wilms Tumor according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nap-24410.1H19, NAP1L4
2thymidine44 2411.0WT1, H19, BRCA2, RRM1
3hpaii4410.0WT1, H19

GO Terms for genes affiliated with Wilms Tumor

About this section

Products for genes affiliated with Wilms Tumor

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Wilms Tumor

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet