MCID: WLF011
MIFTS: 21

Wolfram-Like Syndrome, Autosomal Dominant malady

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

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

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OMIM:47 This autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing... (614296) more...

MalaCards based summary: Wolfram-Like Syndrome, Autosomal Dominant and has symptoms including glaucoma, psychosis and autism. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolfram syndrome 1 (wolframin)).

Aliases & Classifications for Wolfram-Like Syndrome, Autosomal Dominant

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Wolfram-Like Syndrome, Autosomal Dominant, Aliases & Descriptions:

Name: Wolfram-Like Syndrome, Autosomal Dominant 47 11 24


Classifications:



External Ids:

OMIM47 614296

Related Diseases for Wolfram-Like Syndrome, Autosomal Dominant

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Diseases in the Wolfram Syndrome family:

wolfram-like syndrome, autosomal dominant Wolfram Syndrome 2
Wolfram Syndrome-Like Disease

Symptoms for Wolfram-Like Syndrome, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

614296

Clinical features from OMIM:

614296

HPO human phenotypes related to Wolfram-Like Syndrome, Autosomal Dominant:

(show all 10)
id Description Frequency HPO Source Accession
1 glaucoma rare (5%) HP:0000501
2 psychosis rare (5%) HP:0000709
3 autism rare (5%) HP:0000717
4 hallucinations rare (5%) HP:0000738
5 anxiety rare (5%) HP:0000739
6 diabetes mellitus rare (5%) HP:0000819
7 glucose intolerance rare (5%) HP:0000833
8 schizophrenia rare (5%) HP:0100753
9 autosomal dominant inheritance HP:0000006
10 optic atrophy HP:0000648

Drugs & Therapeutics for Wolfram-Like Syndrome, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Wolfram-Like Syndrome, Autosomal Dominant

Search NIH Clinical Center for Wolfram-Like Syndrome, Autosomal Dominant

Genetic Tests for Wolfram-Like Syndrome, Autosomal Dominant

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Genetic tests related to Wolfram-Like Syndrome, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Wolfram-Like Syndrome, Autosomal Dominant24

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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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:

7
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1WFS1, ARG228GLNundetermined variantPathogenic
2WFS1WFS1, LYS836ASNsingle nucleotide variantPathogenic
3WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)single nucleotide variantPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
4WFS1NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser)single nucleotide variantPathogenicrs387906931GRCh37Chr 4, 6303860: 6303860
5WFS1NM_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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Search GEO for disease gene expression data for Wolfram-Like Syndrome, Autosomal Dominant.

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
  • Proteins
  • Kits and Assays

Sources for Wolfram-Like Syndrome, Autosomal Dominant

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet