MCID: WLM005
MIFTS: 19

Wilms Tumor 2

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

Aliases & Classifications for Wilms Tumor 2

MalaCards integrated aliases for Wilms Tumor 2:

Name: Wilms Tumor 2 53 28 13 69
Wt2 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
most case are sporadic


HPO:

31

Classifications:



External Ids:

OMIM 53 194071
MedGen 39 C3887743
UMLS 69 C3887743

Summaries for Wilms Tumor 2

MalaCards based summary : Wilms Tumor 2, also known as wt2, is related to familial wilms tumor 2 and wilms tumor 5, and has symptoms including nephroblastoma An important gene associated with Wilms Tumor 2 is H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)).

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 12.1
2 wilms tumor 5 9.9
3 wilms tumor 6 9.9

Symptoms & Phenotypes for Wilms Tumor 2

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)


Clinical features from OMIM:

194071

Human phenotypes related to Wilms Tumor 2:

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

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 28 H19

Anatomical Context for Wilms Tumor 2

Publications for Wilms Tumor 2

Articles related to Wilms Tumor 2:

# Title Authors Year
1
A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors. ( 11056398 )
2000
2
Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting. ( 10369881 )
1999

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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