MCID: WLF011

Wolfram-Like Syndrome, Autosomal Dominant malady

Genetic diseases (common) category
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Summaries for Wolfram-Like Syndrome, Autosomal Dominant

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47OMIM, 33MalaCards
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MalaCards: Wolfram-Like Syndrome, Autosomal Dominant An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolfram syndrome 1 (wolframin)).

Description from OMIM:47 614296

Aliases & Classifications for Wolfram-Like Syndrome, Autosomal Dominant

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47OMIM
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Classifications:

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


Aliases & Descriptions:

wolfram-like syndrome, autosomal dominant 47


Related Diseases for Wolfram-Like Syndrome, Autosomal Dominant

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Symptoms for Wolfram-Like Syndrome, Autosomal Dominant

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47OMIM
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Symptoms by clinical synopsis from OMIM:

614296

Clinical features from OMIM:

614296

Drugs & Therapeutics for Wolfram-Like Syndrome, Autosomal Dominant

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Wolfram-Like Syndrome, Autosomal Dominant

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Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

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Animal Models for Wolfram-Like Syndrome, Autosomal Dominant or affiliated genes

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Publications for Wolfram-Like Syndrome, Autosomal Dominant

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Variations for Wolfram-Like Syndrome, Autosomal Dominant

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Wolfram-Like Syndrome, Autosomal Dominant:

64
id Symbol AA change Variation ID SNP ID
1WFS1p.Ala684ValVAR_011310
2WFS1p.Glu864LysVAR_032969
3WFS1p.Gly780SerVAR_068344
4WFS1p.Asp797TyrVAR_068345
5WFS1p.Lys836AsnVAR_068346

Clinvar genetic disease variations for Wolfram-Like Syndrome, Autosomal Dominant:

1
id Gene Name Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)single nucleotide variantPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
2WFS1NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser)single nucleotide variantPathogenicrs387906931GRCh37Chr 4, 6303860: 6303860
3WFS1NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)single nucleotide variantPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112

Expression for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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Pathways for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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Compounds for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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GO Terms for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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Products for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wolfram-Like Syndrome, Autosomal Dominant

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet