MCID: WLF011
MIFTS: 25

Wolfram-Like Syndrome, Autosomal Dominant malady

Categories: Genetic diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare 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 50 12
Wolfram-Like Syndrome Autosomal Dominant 68 25
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 68
 
Wolfram-Like Syndrome 52
Wfsl 68

Characteristics:

Orphanet epidemiological data:

52
wolfram-like syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult

HPO:

62
wolfram-like syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614296
Orphanet52 ORPHA411590
ICD10 via Orphanet29 E13.8
MedGen35 C3280358
MeSH37 D014929

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

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OMIM:50 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, also known as wolfram-like syndrome autosomal dominant, is related to wolfram syndrome-like disease, 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:68 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

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

idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome-like disease11.3

Symptoms for Wolfram-Like Syndrome, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

614296

Clinical features from OMIM:

614296

Symptoms:

 52 (show all 22)
  • male hypogonadism
  • glaucoma
  • optic atrophy
  • psychosis
  • depression
  • dementia
  • autistic behavior
  • anxiety
  • hypothyroidism
  • delayed puberty
  • glucose intolerance
  • central diabetes insipidus
  • progressive cerebellar ataxia
  • respiratory insufficiency
  • gastrointestinal dysmotility
  • peripheral axonal neuropathy
  • congenital sensorineural hearing impairment
  • diabetes mellitus
  • primary gonadal insufficiency
  • abnormality of the pinna
  • severe postnatal growth retardation
  • abnormality of the upper urinary tract

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

id Genetic test Affiliating Genes
1 Wolfram-Like Syndrome, Autosomal Dominant25

Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1WFS1p.Ala684ValVAR_011310rs387906930
2WFS1p.Glu864LysVAR_032969rs74315205
3WFS1p.Gly780SerVAR_068344rs387906931
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet