MCID: WLF011
MIFTS: 26

Wolfram-Like Syndrome, Autosomal Dominant

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

Aliases & Classifications for Wolfram-Like Syndrome, Autosomal Dominant

MalaCards integrated aliases for Wolfram-Like Syndrome, Autosomal Dominant:

Name: Wolfram-Like Syndrome, Autosomal Dominant 54 29 13 69
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 71
Wolfram-Like Syndrome Autosomal Dominant 71
Wolfram-Like Syndrome 56
Wfsl 71

Characteristics:

Orphanet epidemiological data:

56
wolfram-like syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
wolfram-like syndrome, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Wolfram-Like Syndrome, Autosomal Dominant

OMIM : 54
Autosomal dominant Wolfram-like syndrome is 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 (summary by Valero et al., 2008). Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene. An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290). (614296)

MalaCards based summary : Wolfram-Like Syndrome, Autosomal Dominant, also known as hearing loss progressive with optic atrophy and/or impaired glucose regulation, is related to wolfram syndrome-like disease and autosomal dominant optic atrophy plus syndrome, and has symptoms including optic atrophy, glucose intolerance and glaucoma. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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

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:

id Related Disease Score Top Affiliating Genes
1 wolfram syndrome-like disease 11.1
2 autosomal dominant optic atrophy plus syndrome 11.0

Symptoms & Phenotypes for Wolfram-Like Syndrome, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
glaucoma (in some patients)

Endocrine Features:
impaired glucose tolerance (in some patients)
diabetes mellitus (in some patients)

Neurologic- Behavioral Psychiatric Manifestations:
anxiety (in some patients)
psychosis (rare)
hallucinations (rare)
depression (in some patients)
schizophrenia (rare)
more
Head And Neck- Ears:
hearing loss, sensorineural, congenital progressive (affects primarily low- and middle-frequency ranges)


Clinical features from OMIM:

614296

Human phenotypes related to Wolfram-Like Syndrome, Autosomal Dominant:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
2 glucose intolerance 56 32 occasional (7.5%) Frequent (79-30%) HP:0000833
3 glaucoma 56 32 occasional (7.5%) Frequent (79-30%) HP:0000501
4 depression 56 32 Very frequent (99-80%) HP:0000716
5 psychosis 56 32 occasional (7.5%) Very frequent (99-80%) HP:0000709
6 diabetes mellitus 56 32 occasional (7.5%) Very frequent (99-80%) HP:0000819
7 anxiety 56 32 occasional (7.5%) Very frequent (99-80%) HP:0000739
8 primary gonadal insufficiency 56 Frequent (79-30%)
9 hallucinations 32 occasional (7.5%) HP:0000738
10 autism 32 occasional (7.5%) HP:0000717
11 delayed puberty 56 Frequent (79-30%)
12 schizophrenia 32 occasional (7.5%) HP:0100753
13 respiratory insufficiency 56 Occasional (29-5%)
14 peripheral axonal neuropathy 56 Frequent (79-30%)
15 dementia 56 Very frequent (99-80%)
16 gastrointestinal dysmotility 56 Frequent (79-30%)
17 hypothyroidism 56 Occasional (29-5%)
18 progressive cerebellar ataxia 56 Frequent (79-30%)
19 central diabetes insipidus 56 Frequent (79-30%)
20 hearing impairment 32 HP:0000365
21 autistic behavior 56 Very frequent (99-80%)
22 severe postnatal growth retardation 56 Occasional (29-5%)
23 abnormality of the pinna 56 Frequent (79-30%)
24 abnormality of the upper urinary tract 56 Frequent (79-30%)
25 male hypogonadism 56 Frequent (79-30%)
26 congenital sensorineural hearing impairment 56 Frequent (79-30%)

Drugs & Therapeutics for Wolfram-Like Syndrome, Autosomal Dominant

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

Genetic Tests for Wolfram-Like Syndrome, Autosomal Dominant

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

id Genetic test Affiliating Genes
1 Wolfram-Like Syndrome, Autosomal Dominant 29

Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

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

39
Eye

Publications for Wolfram-Like Syndrome, Autosomal Dominant

Variations for Wolfram-Like Syndrome, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Wolfram-Like Syndrome, Autosomal Dominant:

71
id Symbol AA change Variation ID SNP ID
1 WFS1 p.Ala684Val VAR_011310 rs387906930
2 WFS1 p.Glu864Lys VAR_032969 rs74315205
3 WFS1 p.Gly780Ser VAR_068344 rs387906931
4 WFS1 p.Asp797Tyr VAR_068345
5 WFS1 p.Lys836Asn VAR_068346 rs876657675

ClinVar genetic disease variations for Wolfram-Like Syndrome, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
2 WFS1 WFS1, ARG228GLN undetermined variant Pathogenic
3 WFS1 WFS1, LYS836ASN single nucleotide variant Pathogenic
4 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
5 WFS1 NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser) single nucleotide variant Pathogenic rs387906931 GRCh37 Chromosome 4, 6303860: 6303860

Expression for Wolfram-Like Syndrome, Autosomal Dominant

Search GEO for disease gene expression data for Wolfram-Like Syndrome, Autosomal Dominant.

Pathways for Wolfram-Like Syndrome, Autosomal Dominant

GO Terms for Wolfram-Like Syndrome, Autosomal Dominant

Sources for Wolfram-Like Syndrome, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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