MCID: WLM007
MIFTS: 12

Wilms Tumor Susceptibility-5 malady

Genetic diseases (common), Cancer diseases categories

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:45 601583

Aliases & Classifications for Wilms Tumor Susceptibility-5

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Wilms Tumor Susceptibility-5, Aliases & Descriptions:

Name: Wilms Tumor Susceptibility-5 45 10
Wilms Tumor and Radial Bilateral Aplasia 60
 
Wilms Tumor 5 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases


External Ids:

OMIM45 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:

62
id Symbol AA change Variation ID SNP ID
1POU6F2p.Gln192HisVAR_022419

Clinvar genetic disease variations for Wilms Tumor Susceptibility-5:

6
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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Products for genes affiliated with Wilms Tumor Susceptibility-5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Wilms Tumor Susceptibility-5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet