MCID: WLM007
MIFTS: 12

Wilms Tumor Susceptibility-5 malady

Genetic diseases (common), Cancer diseases categories

Aliases & Classifications for Wilms Tumor Susceptibility-5

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Aliases & Descriptions for Wilms Tumor Susceptibility-5:

Name: Wilms Tumor Susceptibility-5 46 9
Wilms Tumor and Radial Bilateral Aplasia 61
 
Wilms Tumor 5 46


Classifications:



External Ids:

OMIM46 601583

Summaries for Wilms Tumor Susceptibility-5

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MalaCards based summary: Wilms Tumor Susceptibility-5, also known as wilms tumor and radial bilateral aplasia, is related to wilms tumor and radial bilateral aplasia, and has symptoms including autosomal dominant inheritance, somatic mutation and nephroblastoma (wilms tumor). An important gene associated with Wilms Tumor Susceptibility-5 is POU6F2 (POU class 6 homeobox 2).

Description from OMIM:46 601583

Related Diseases for Wilms Tumor Susceptibility-5

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Diseases related to Wilms Tumor Susceptibility-5 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor and radial bilateral aplasia10.2

Symptoms for Wilms Tumor Susceptibility-5

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Symptoms by clinical synopsis from OMIM:

601583

Clinical features from OMIM:

601583

HPO human phenotypes related to Wilms Tumor Susceptibility-5:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 somatic mutation HP:0001428
3 nephroblastoma (wilms tumor) HP:0002667

Drugs & Therapeutics for Wilms Tumor Susceptibility-5

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Drug clinical trials:

Search ClinicalTrials for Wilms Tumor Susceptibility-5

Search NIH Clinical Center for Wilms Tumor Susceptibility-5

Genetic Tests for Wilms Tumor Susceptibility-5

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Anatomical Context for Wilms Tumor Susceptibility-5

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Animal Models for Wilms Tumor Susceptibility-5 or affiliated genes

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Publications for Wilms Tumor Susceptibility-5

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Variations for Wilms Tumor Susceptibility-5

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

63
id Symbol AA change Variation ID SNP ID
1POU6F2p.Gln192HisVAR_022419

Clinvar genetic disease variations for Wilms Tumor Susceptibility-5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POU6F2NM_007252.3(POU6F2): c.573G> T (p.Gln191His)single nucleotide variantrisk factorrs121918261GRCh37Chr 7, 39379302: 39379302
2POU6F2POU6F2, C-G, EXON 1C, 5-PRIME UTRsingle nucleotide variantPathogenic

Expression for genes affiliated with Wilms Tumor Susceptibility-5

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

Pathways for genes affiliated with Wilms Tumor Susceptibility-5

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Compounds for genes affiliated with Wilms Tumor Susceptibility-5

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GO Terms for genes affiliated with Wilms Tumor Susceptibility-5

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Sources for Wilms Tumor Susceptibility-5

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet