MCID: WLF011
MIFTS: 26

Wolfram-Like Syndrome, Autosomal Dominant malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Wolfram-Like Syndrome, Autosomal Dominant

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

Name: Wolfram-Like Syndrome, Autosomal Dominant 49 11 65
Wolfram-Like Syndrome Autosomal Dominant 67 24
 
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 67
Wfsl 67

Characteristics:

HPO:

61
wolfram-like syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 614296
MedGen34 C3280358
MeSH36 D014929
UMLS65 C3280358

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

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OMIM:49 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, is also known as 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 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 Wolfram-like syndrome autosomal dominant: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle- frequency ranges.

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 hearing impairment HP:0000365
10 optic atrophy HP:0000648

Drugs & Therapeutics for Wolfram-Like Syndrome, Autosomal Dominant

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Interventional clinical trials:

Search ClinicalTrials, 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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MalaCards organs/tissues related to Wolfram-Like Syndrome, Autosomal Dominant:

33
Eye

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:

67
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:

5
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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GO Terms for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

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Sources for Wolfram-Like Syndrome, Autosomal Dominant

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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