MCID: WLF011
MIFTS: 14

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:46 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 46


Classifications:



Related Diseases for Wolfram-Like Syndrome, Autosomal Dominant

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Diseases in the Wolfram Syndrome family:

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

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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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:

63
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 Name 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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Expression patterns in normal tissues for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet