MCID: WLF009
MIFTS: 23

Wolfram Syndrome 2 malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Ear diseases categories

Summaries for Wolfram Syndrome 2

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Sources:
48OMIM, 34MalaCards
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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:48 604928

Aliases & Classifications for Wolfram Syndrome 2

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

wolfram syndrome 2 21 23 48 63


Related Diseases for Wolfram Syndrome 2

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
48OMIM
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Clinical features from OMIM:

604928

Drugs & Therapeutics for Wolfram Syndrome 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Wolfram Syndrome 2

Drug clinical trials:

Search ClinicalTrials for Wolfram Syndrome 2

Search NIH Clinical Center for Wolfram Syndrome 2

Search CenterWatch for Wolfram Syndrome 2

Genetic Tests for Wolfram Syndrome 2

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21GeneTests, 23GTR
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Genetic tests related to Wolfram Syndrome 2:

id Genetic test Affiliating Genes
1 Wolfram Syndrome 221 23 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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53PubMed
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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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Sources:
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, 16Gene 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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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet