MCID: WLM003
MIFTS: 10

Wilms Tumor and Radial Bilateral Aplasia

Categories: Rare diseases

Aliases & Classifications for Wilms Tumor and Radial Bilateral Aplasia

MalaCards integrated aliases for Wilms Tumor and Radial Bilateral Aplasia:

Name: Wilms Tumor and Radial Bilateral Aplasia 54 30 6 74
Bilateral Radial Aplasia with Wilms Tumor 54
Wilms Tumor 5 54
Wt5 54

Classifications:



External Ids:

UMLS 74 C1832099

Summaries for Wilms Tumor and Radial Bilateral Aplasia

MalaCards based summary : Wilms Tumor and Radial Bilateral Aplasia, also known as bilateral radial aplasia with wilms tumor, is related to wilms tumor 5 and wilms tumor 6. An important gene associated with Wilms Tumor and Radial Bilateral Aplasia is POU6F2 (POU Class 6 Homeobox 2).

Related Diseases for Wilms Tumor and Radial Bilateral Aplasia

Diseases related to Wilms Tumor and Radial Bilateral Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wilms tumor 5 11.6
2 wilms tumor 6 9.9

Symptoms & Phenotypes for Wilms Tumor and Radial Bilateral Aplasia

Drugs & Therapeutics for Wilms Tumor and Radial Bilateral Aplasia

Search Clinical Trials , NIH Clinical Center for Wilms Tumor and Radial Bilateral Aplasia

Genetic Tests for Wilms Tumor and Radial Bilateral Aplasia

Genetic tests related to Wilms Tumor and Radial Bilateral Aplasia:

# Genetic test Affiliating Genes
1 Wilms Tumor and Radial Bilateral Aplasia 30 POU6F2

Anatomical Context for Wilms Tumor and Radial Bilateral Aplasia

Publications for Wilms Tumor and Radial Bilateral Aplasia

Articles related to Wilms Tumor and Radial Bilateral Aplasia:

# Title Authors Year
1
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. ( 15459955 )
2004
2
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours. ( 11284034 )
2001

Variations for Wilms Tumor and Radial Bilateral Aplasia

ClinVar genetic disease variations for Wilms Tumor and Radial Bilateral Aplasia:

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 and Radial Bilateral Aplasia

Search GEO for disease gene expression data for Wilms Tumor and Radial Bilateral Aplasia.

Pathways for Wilms Tumor and Radial Bilateral Aplasia

GO Terms for Wilms Tumor and Radial Bilateral Aplasia

Sources for Wilms Tumor and Radial Bilateral Aplasia

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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