MCID: WLF010
MIFTS: 10

Wolfram Syndrome-Like Disease malady

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

Aliases & Classifications for Wolfram Syndrome-Like Disease

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Aliases & Descriptions for Wolfram Syndrome-Like Disease:

Name: Wolfram Syndrome-Like Disease 22
 
Wolfram-Like Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
wolfram-like syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

Orphanet51 411590

Summaries for Wolfram Syndrome-Like Disease

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MalaCards based summary: Wolfram Syndrome-Like Disease, also known as wolfram-like syndrome, is related to wolfram-like syndrome, autosomal dominant. An important gene associated with Wolfram Syndrome-Like Disease is WFS1 (Wolfram Syndrome 1 (Wolframin)). Affiliated tissues include eye.

Related Diseases for Wolfram Syndrome-Like Disease

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Diseases in the Wolfram Syndrome family:

Wolfram-Like Syndrome, Autosomal Dominant Wolfram Syndrome 2
wolfram syndrome-like disease

Diseases related to Wolfram Syndrome-Like Disease via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wolfram-like syndrome, autosomal dominant10.6

Symptoms for Wolfram Syndrome-Like Disease

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Drugs & Therapeutics for Wolfram Syndrome-Like Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wolfram Syndrome-Like Disease

Genetic Tests for Wolfram Syndrome-Like Disease

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Genetic tests related to Wolfram Syndrome-Like Disease:

id Genetic test Affiliating Genes
1 Wolfram Syndrome-Like Disease22 WFS1

Anatomical Context for Wolfram Syndrome-Like Disease

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MalaCards organs/tissues related to Wolfram Syndrome-Like Disease:

33
Eye

Animal Models for Wolfram Syndrome-Like Disease or affiliated genes

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Publications for Wolfram Syndrome-Like Disease

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Variations for Wolfram Syndrome-Like Disease

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Clinvar genetic disease variations for Wolfram Syndrome-Like Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1WFS1, ARG228GLNundetermined variantPathogenic
2WFS1WFS1, LYS836ASNsingle nucleotide variantPathogenic
3WFS1NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser)single nucleotide variantPathogenicrs387906931GRCh37Chr 4, 6303860: 6303860
4WFS1NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)single nucleotide variantPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112

Expression for genes affiliated with Wolfram Syndrome-Like Disease

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Search GEO for disease gene expression data for Wolfram Syndrome-Like Disease.

Pathways for genes affiliated with Wolfram Syndrome-Like Disease

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GO Terms for genes affiliated with Wolfram Syndrome-Like Disease

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Sources for Wolfram Syndrome-Like Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet