WT5
MCID: WLM018
MIFTS: 19

Wilms Tumor 5 (WT5)

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

Aliases & Classifications for Wilms Tumor 5

MalaCards integrated aliases for Wilms Tumor 5:

Name: Wilms Tumor 5 57
Wilms Tumor Susceptibility-5 57 13
Wt5 57 75
Hereditary Susceptibility to Wilms Tumor 5 75
Wilms Tumor and Radial Bilateral Aplasia 73
Wilms Tumor, Susceptibility to 57
Wilms Tumor, Type 5 40
Wilms Tumor ; Wtsl 57
Nephroblastoma 73
Wtsl 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
most cases are sporadic
tumor suppressor gene


HPO:

32

Classifications:



External Ids:

OMIM 57 601583
MedGen 42 C1832099

Summaries for Wilms Tumor 5

UniProtKB/Swiss-Prot : 75 Hereditary susceptibility to Wilms tumor 5: Pediatric malignancy of kidney and one of the most common solid cancers in childhood.

MalaCards based summary : Wilms Tumor 5, also known as wilms tumor susceptibility-5, is related to wilms tumor and radial bilateral aplasia and wilms tumor 6, and has symptoms including abdominal pain An important gene associated with Wilms Tumor 5 is POU6F2 (POU Class 6 Homeobox 2). Affiliated tissues include kidney, and related phenotype is nephroblastoma.

Description from OMIM: 601583

Related Diseases for Wilms Tumor 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wilms tumor and radial bilateral aplasia 11.2
2 wilms tumor 6 9.9

Symptoms & Phenotypes for Wilms Tumor 5

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)


Clinical features from OMIM:

601583

Human phenotypes related to Wilms Tumor 5:

32
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 32 HP:0002667

UMLS symptoms related to Wilms Tumor 5:


abdominal pain

Drugs & Therapeutics for Wilms Tumor 5

Search Clinical Trials , NIH Clinical Center for Wilms Tumor 5

Genetic Tests for Wilms Tumor 5

Anatomical Context for Wilms Tumor 5

MalaCards organs/tissues related to Wilms Tumor 5:

41
Kidney

Publications for Wilms Tumor 5

Variations for Wilms Tumor 5

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor 5:

75
# Symbol AA change Variation ID SNP ID
1 POU6F2 p.Gln192His VAR_022419

ClinVar genetic disease variations for Wilms Tumor 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POU6F2 NM_007252.3(POU6F2): c.573G> T (p.Gln191His) single nucleotide variant Pathogenic rs121918261 GRCh37 Chromosome 7, 39379302: 39379302
2 POU6F2 NM_007252.3(POU6F2): c.573G> T (p.Gln191His) single nucleotide variant Pathogenic rs121918261 GRCh38 Chromosome 7, 39339703: 39339703
3 POU6F2 POU6F2, C-G, EXON 1C, 5-PRIME UTR single nucleotide variant Pathogenic

Expression for Wilms Tumor 5

Search GEO for disease gene expression data for Wilms Tumor 5.

Pathways for Wilms Tumor 5

GO Terms for Wilms Tumor 5

Sources for Wilms Tumor 5

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
Content
Loading form....