MCID: WLF011
MIFTS: 25

Wolfram-Like Syndrome, Autosomal Dominant

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

Aliases & Classifications for Wolfram-Like Syndrome, Autosomal Dominant

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

Name: Wolfram-Like Syndrome, Autosomal Dominant 53 28 13 69
Wfsl 53 71
Hearing Loss, Progressive, with Optic Atrophy and/or Impaired Glucose Regulation 53
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 71
Wolfram-Like Syndrome Autosomal Dominant 71
Wolfram Syndrome-Like Disease 28
Wolfram-Like Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
wolfram-like syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
wolfram-like syndrome, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Wolfram-Like Syndrome, Autosomal Dominant

OMIM : 53 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, is also known as wfsl, and has symptoms including diabetes mellitus, hypothyroidism and respiratory insufficiency. 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 Syndrome 1 Wolfram Syndrome 2
Wolfram-Like Syndrome, Autosomal Dominant

Symptoms & Phenotypes for Wolfram-Like Syndrome, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
optic atrophy
glaucoma (in some patients)

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

Neurologic Behavioral Psychiatric Manifestations:
psychosis (rare)
anxiety (in some patients)
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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000819
2 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
3 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
4 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 delayed puberty 55 31 frequent (33%) Frequent (79-30%) HP:0000823
6 anxiety 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000739
7 glucose intolerance 55 31 occasional (7.5%) Frequent (79-30%) HP:0000833
8 abnormality of the pinna 55 31 frequent (33%) Frequent (79-30%) HP:0000377
9 abnormality of the upper urinary tract 55 31 frequent (33%) Frequent (79-30%) HP:0010935
10 male hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000026
11 psychosis 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000709
12 glaucoma 55 31 occasional (7.5%) Frequent (79-30%) HP:0000501
13 dementia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000726
14 congenital sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0008527
15 severe postnatal growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0008850
16 autistic behavior 55 31 hallmark (90%) Very frequent (99-80%) HP:0000729
17 primary gonadal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0008193
18 progressive cerebellar ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0002073
19 central diabetes insipidus 55 31 frequent (33%) Frequent (79-30%) HP:0000863
20 peripheral axonal neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0003477
21 gastrointestinal dysmotility 55 31 frequent (33%) Frequent (79-30%) HP:0002579
22 depression 55 Very frequent (99-80%)
23 hearing impairment 31 HP:0000365
24 hallucinations 31 occasional (7.5%) HP:0000738
25 autism 31 occasional (7.5%) HP:0000717
26 schizophrenia 31 occasional (7.5%) HP:0100753
27 depressivity 31 hallmark (90%) HP:0000716

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:

# Genetic test Affiliating Genes
1 Wolfram-Like Syndrome, Autosomal Dominant 28 WFS1
2 Wolfram Syndrome-Like Disease 28

Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

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

38
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
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 WFS1, ARG228GLN undetermined variant Pathogenic
2 WFS1 WFS1, LYS836ASN single nucleotide variant Pathogenic
3 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
4 WFS1 NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser) single nucleotide variant Pathogenic rs387906931 GRCh37 Chromosome 4, 6303860: 6303860
5 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
6 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112

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

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
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42 MESH via Orphanet
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53 OMIM
54 OMIM via Orphanet
58 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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