MCID: WLF009
MIFTS: 23

Wolfram Syndrome 2 malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Ear diseases categories
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Summaries for Wolfram Syndrome 2

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Sources:
47OMIM, 33MalaCards
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MalaCards: Wolfram Syndrome 2 is related to wolfram syndrome and opa3-related 3-methylglutaconic aciduria. An important gene associated with Wolfram Syndrome 2 is CISD2 (CDGSH iron sulfur domain 2).

Description from OMIM:47 604928

Aliases & Classifications for Wolfram Syndrome 2

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

wolfram syndrome 2 20 22 47 62


Related Diseases for Wolfram Syndrome 2

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17GeneCards, 18GeneDecks
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Diseases in the Wolfram Syndrome family:

wolfram syndrome 2 Wolfram Syndrome-Like Disease

Diseases related to Wolfram Syndrome 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome30.7WFS1, CISD2
2opa3-related 3-methylglutaconic aciduria10.0WFS1, CISD2
3waterhouse-friderichsen syndrome10.0WFS1, CISD2

Symptoms for Wolfram Syndrome 2

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47OMIM
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Clinical features from OMIM:

604928

Drugs & Therapeutics for Wolfram Syndrome 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Wolfram Syndrome 2

Search NIH Clinical Center for Wolfram Syndrome 2

Genetic Tests for Wolfram Syndrome 2

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20GeneTests, 22GTR
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Genetic tests related to Wolfram Syndrome 2:

id Genetic test Affiliating Genes
1 Wolfram Syndrome 220 22 CISD2

Anatomical Context for Wolfram Syndrome 2

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Animal Models for Wolfram Syndrome 2 or affiliated genes

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Publications for Wolfram Syndrome 2

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52PubMed
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Articles related to Wolfram Syndrome 2:

idTitleAuthorsYear
1
Wolfram syndrome 1 and Wolfram syndrome 2. (22790102)
2012
2
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. (19580816)
2009
3
Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. (19648948)
2009
4
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (17846994)
2007

Variations for Wolfram Syndrome 2

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Wolfram Syndrome 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_001008388.4(CISD2): c.109G> C (p.Glu37Gln)single nucleotide variantPathogenicrs63749888GRCh37Chr 4, 103806378: 103806378

Expression for genes affiliated with Wolfram Syndrome 2

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

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Pathways for genes affiliated with Wolfram Syndrome 2

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Compounds for genes affiliated with Wolfram Syndrome 2

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GO Terms for genes affiliated with Wolfram Syndrome 2

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16Gene Ontology
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Cellular components related to Wolfram Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.4CISD1, CISD2

Molecular functions related to Wolfram Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:0515379.4CISD1, CISD2

Products for genes affiliated with Wolfram Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wolfram Syndrome 2

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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