WT2
MCID: WLM005
MIFTS: 20

Wilms Tumor 2 (WT2)

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

Aliases & Classifications for Wilms Tumor 2

MalaCards integrated aliases for Wilms Tumor 2:

Name: Wilms Tumor 2 58 30 13 6 74
Wilms Tumor, Type 2 41
Wt2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
most case are sporadic


HPO:

33

Classifications:



External Ids:

OMIM 58 194071
MedGen 43 C3887743
UMLS 74 C3887743

Summaries for Wilms Tumor 2

MalaCards based summary : Wilms Tumor 2, also known as wilms tumor, type 2, is related to familial wilms tumor 2 and perrault syndrome 1. An important gene associated with Wilms Tumor 2 is H19 (H19 Imprinted Maternally Expressed Transcript). Related phenotype is nephroblastoma.

Description from OMIM: 194071

Related Diseases for Wilms Tumor 2

Diseases in the Hereditary Wilms' Tumor family:

Wilms Tumor 1 Wilms Tumor 2
Wilms Tumor 3 Wilms Tumor 4
Wilms Tumor 5 Wilms Tumor 6
Familial Wilms Tumor 2

Diseases related to Wilms Tumor 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial wilms tumor 2 12.3
2 perrault syndrome 1 11.1
3 wilms tumor 5 9.8
4 wilms tumor 6 9.8
5 wilms tumor 1 9.5 H19 KCNQ1DN

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:

33
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 33 HP:0002667

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)

Clinical features from OMIM:

194071

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 30

Anatomical Context for Wilms Tumor 2

Publications for Wilms Tumor 2

Articles related to Wilms Tumor 2:

# Title Authors Year
1
[Aniridia and Wilms tumor: 2 cases of fetal rhabdomyomatous nephroblastoma]. ( 9033789 )
1996

Variations for Wilms Tumor 2

ClinVar genetic disease variations for Wilms Tumor 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 H19; H19-ICR; ICR1; MRPL23 NR_002196.1(H19): n.-7080_-1781del deletion Pathogenic GRCh38 Chromosome 11, 1999616: 2004919
2 H19; H19-ICR; ICR1; MRPL23 GRCh38/hg38 11p15.5(chr11: 2000799-2001783)x3 copy number gain Pathogenic GRCh37 Chromosome 11, 2022018: 2023452
3 H19; H19-ICR; ICR1; MRPL23 GRCh38/hg38 11p15.5(chr11: 2000799-2001783)x3 copy number gain Pathogenic GRCh38 Chromosome 11, 2000788: 2002222
4 H19 H19, 5.3-KB DEL deletion Pathogenic
5 H19 H19, 1.43-KB TRIPLICATION undetermined variant Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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