WT2
MCID: WLM005
MIFTS: 28

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 57 29 13 6 73
Wilms Tumor, Type 2 40
Wt2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
most case are sporadic


HPO:

32

Classifications:



External Ids:

OMIM 57 194071
MedGen 42 C3887743
UMLS 73 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). Affiliated tissues include lung, kidney and bone, and related phenotype is nephroblastoma.

Description from OMIM: 194071

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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)


Clinical features from OMIM:

194071

Human phenotypes related to Wilms Tumor 2:

32
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 32 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 29 H19

Anatomical Context for Wilms Tumor 2

MalaCards organs/tissues related to Wilms Tumor 2:

41
Lung, Kidney, Bone, Thyroid

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, 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
5 H19; H19-ICR; ICR1; MRPL23 GRCh38/hg38 11p15.5(chr11: 2000799-2001783)x3 copy number gain Pathogenic GRCh38 Chromosome 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 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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