WT2
MCID: WLM005
MIFTS: 26

Wilms Tumor 2 (WT2)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Wilms Tumor 2

MalaCards integrated aliases for Wilms Tumor 2:

Name: Wilms Tumor 2 57 29 13 6 70
Wilms Tumor, Type 2 39
Wt2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
most case are sporadic


HPO:

31

Classifications:



External Ids:

OMIM® 57 194071
OMIM Phenotypic Series 57 PS194070
MedGen 41 C3887743
UMLS 70 C3887743

Summaries for Wilms Tumor 2

MalaCards based summary : Wilms Tumor 2, also known as wilms tumor, type 2, is related to wilms tumor predisposition and beckwith-wiedemann syndrome. An important gene associated with Wilms Tumor 2 is WT2 (Wilms Tumor 2). Affiliated tissues include kidney and liver, and related phenotype is nephroblastoma.

More information from OMIM: 194071 PS194070

Related Diseases for Wilms Tumor 2

Graphical network of the top 20 diseases related to Wilms Tumor 2:



Diseases related to Wilms Tumor 2

Symptoms & Phenotypes for Wilms Tumor 2

Human phenotypes related to Wilms Tumor 2:

31
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 31 HP:0002667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)

Clinical features from OMIM®:

194071 (Updated 20-May-2021)

Drugs & Therapeutics for Wilms Tumor 2

Search Clinical Trials , NIH Clinical Center for Wilms Tumor 2

Genetic Tests for Wilms Tumor 2

Genetic tests related to Wilms Tumor 2:

# Genetic test Affiliating Genes
1 Wilms Tumor 2 29 H19-ICR

Anatomical Context for Wilms Tumor 2

MalaCards organs/tissues related to Wilms Tumor 2:

40
Kidney, Liver

Publications for Wilms Tumor 2

Articles related to Wilms Tumor 2:

(show all 24)
# Title Authors PMID Year
1
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. 6 57
18836444 2008
2
Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11. 57
1656527 1991
3
Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor. 57
1973142 1990
4
Loss of heterozygosity in Wilms' tumour involves two distinct regions of chromosome 11. 57
2163053 1990
5
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma. 57
2566168 1989
6
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. 57
2539717 1989
7
Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells. 57
2542777 1989
8
Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. 57
2848758 1988
9
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. 61
31339634 2019
10
Long-term physiologic and oncologic outcomes of inferior vena cava thrombosis in pediatric malignant abdominal tumors. 61
25840061 2015
11
Second malignancies after autologous hematopoietic cell transplantation in children. 61
22964594 2013
12
Identification of ovarian genes regulated by follicle-stimulating hormone (Fsh) in vitro during early secondary oocyte growth in coho salmon. 61
23200633 2013
13
Liver lesions in children and adolescents: cytopathologic analysis and clinical correlates in 44 cases. 61
21309009 2012
14
Early experience with PET/CT scan in the evaluation of pediatric abdominal neoplasms. 61
19040932 2008
15
Immunohistochemical analysis of gamma catenin in Wilms' tumors. 61
18568994 2008
16
Thymic and adenotonsillar enlargement after successful treatment of malignancies. 61
16020133 2005
17
Metachronous Wilms tumor associated with pulmonary embolism: how can we detect these cases early? A case report and literature review. 61
12687754 2003
18
Decreased expression of the INK4 family of cyclin-dependent kinase inhibitors in Wilms tumor. 61
10918395 2000
19
Localization of a putative liver tumor suppressor locus to a 950-kb region of human 11p11.2-p12 using rat liver tumor microcell hybrid cell lines. 61
9290704 1997
20
[Aniridia and Wilms tumor: 2 cases of fetal rhabdomyomatous nephroblastoma]. 61
9033789 1996
21
The role of spiral (helical) computerized tomography with three-dimensional reconstruction in pediatric solid tumors. 61
7738757 1995
22
The nephroblastomatosis complex and its relationship to Wilms' tumor. 61
2170616 1990
23
Mediastinal mass following chemotherapeutic treatment of Hodgkin's disease: recurrent tumor or thymic hyperplasia? 61
3440903 1987
24
Sarcomatous variants of Wilms' tumor. Immunohistochemical and ultrastructural comparison with classical Wilms' tumor. 61
2434203 1987

Variations for Wilms Tumor 2

ClinVar genetic disease variations for Wilms Tumor 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 H19 H19, 5.3-KB DEL Deletion Pathogenic 18243 GRCh37:
GRCh38:
2 H19 H19, 1.43-KB TRIPLICATION Variation Pathogenic 18244 GRCh37:
GRCh38:
3 MRPL23 and overlap with 2 gene(s) NR_002196.1(H19):n.-7080_-1781del Deletion Pathogenic 162493 GRCh37:
GRCh38: 11:1999616-2004919
4 H19-ICR , MRPL23 and overlap with 1 gene(s) GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3 copy number gain Pathogenic 162494 GRCh37: 11:2022018-2023452
GRCh38: 11:2000788-2002222

Expression for Wilms Tumor 2

Search GEO for disease gene expression data for Wilms Tumor 2.

Pathways for Wilms Tumor 2

GO Terms for Wilms Tumor 2

Sources for Wilms Tumor 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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