WFSL
MCID: WLF011
MIFTS: 33

Wolfram-Like Syndrome, Autosomal Dominant (WFSL)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 57 29 13 6 40 72
Wolfram-Like Syndrome 59 17
Wfsl 57 74
Hearing Loss, Progressive, with Optic Atrophy and/or Impaired Glucose Regulation 57
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 74
Wolfram-Like Syndrome Autosomal Dominant 74
Wolfram Syndrome-Like Disease 29

Characteristics:

Orphanet epidemiological data:

59
wolfram-like syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 614296
MeSH 44 D014929
ICD10 via Orphanet 34 E13.8
UMLS via Orphanet 73 C3280358
Orphanet 59 ORPHA411590
MedGen 42 C3280358
UMLS 72 C3280358

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

OMIM : 57 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 wolfram-like syndrome, is related to wolfram syndrome and wolfram syndrome 1. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye, and related phenotypes are depressivity and diabetes mellitus

UniProtKB/Swiss-Prot : 74 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 Autosomal Dominant Wolfram Syndrome

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

# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 29.1 WFS1 LOC107986257
2 wolfram syndrome 1 10.0
3 megalocornea 10.0
4 3-methylglutaconic aciduria, type iii 10.0
5 peters-plus syndrome 10.0
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
7 nephrocalcinosis 10.0
8 wfs1-related disorders 9.6 WFS1 LOC107986257

Graphical network of the top 20 diseases related to Wolfram-Like Syndrome, Autosomal Dominant:



Diseases related to Wolfram-Like Syndrome, Autosomal Dominant

Symptoms & Phenotypes for Wolfram-Like Syndrome, Autosomal Dominant

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

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
2 diabetes mellitus 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000819
3 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
4 anxiety 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000739
5 psychosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000709
6 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
7 autistic behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000729
8 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
9 abnormality of the pinna 59 32 frequent (33%) Frequent (79-30%) HP:0000377
10 abnormality of the upper urinary tract 59 32 frequent (33%) Frequent (79-30%) HP:0010935
11 male hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000026
12 glaucoma 59 32 occasional (7.5%) Frequent (79-30%) HP:0000501
13 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
14 congenital sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008527
15 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
16 primary gonadal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008193
17 gastrointestinal dysmotility 59 32 frequent (33%) Frequent (79-30%) HP:0002579
18 central diabetes insipidus 59 32 frequent (33%) Frequent (79-30%) HP:0000863
19 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
20 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
21 severe postnatal growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008850
22 hallucinations 32 occasional (7.5%) HP:0000738
23 autism 32 occasional (7.5%) HP:0000717
24 schizophrenia 32 occasional (7.5%) HP:0100753
25 impaired glucose tolerance 32 very rare (1%) HP:0040270
26 hearing impairment 32 HP:0000365
27 glucose intolerance 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
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

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 29 WFS1
2 Wolfram Syndrome-Like Disease 29

Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

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

41
Eye

Publications for Wolfram-Like Syndrome, Autosomal Dominant

Articles related to Wolfram-Like Syndrome, Autosomal Dominant:

# Title Authors PMID Year
1
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 8 71
21538838 2011
2
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 8 71
20069065 2010
3
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 8 71
18544103 2008
4
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 8 71
16648378 2006
5
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. 71
17492394 2007
6
WFS1 mutations in Spanish patients with diabetes mellitus and deafness. 8
12107816 2002
7
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 71
11295831 2001
8
Wavefront sensorless adaptive optics OCT with the DONE algorithm for in vivo human retinal imaging [Invited]. 38
28736670 2017
9
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. 38
27217304 2016
10
[Modeling of functional working state in hypoxia]. 38
12918267 2003

Variations for Wolfram-Like Syndrome, Autosomal Dominant

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

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 4:6303573-6303573 4:6301846-6301846
4 WFS1 NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser) single nucleotide variant Pathogenic rs387906931 4:6303860-6303860 4:6302133-6302133
5 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 4:6279306-6279306 4:6277579-6277579
6 WFS1 NM_006005.3(WFS1): c.2425G> A (p.Glu809Lys) single nucleotide variant Pathogenic/Likely pathogenic rs71539673 4:6303947-6303947 4:6302220-6302220
7 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 4:6304112-6304112 4:6302385-6302385
8 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 4:6292998-6292998 4:6291271-6291271
9 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 4:6293695-6293695 4:6291968-6291968
10 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 4:6303551-6303551 4:6301824-6301824
11 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 4:6303060-6303060 4:6301333-6301333
12 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 4:6303155-6303155 4:6301428-6301428
13 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 4:6302893-6302893 4:6301166-6301166
14 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 4:6302689-6302689 4:6300962-6300962
15 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 4:6296872-6296872 4:6295145-6295145
16 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 4:6296783-6296783 4:6295056-6295056
17 WFS1 NM_006005.3(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 4:6302601-6302601 4:6300874-6300874
18 WFS1 NM_006005.3(WFS1): c.1724C> G (p.Ala575Gly) single nucleotide variant Uncertain significance rs71524360 4:6303246-6303246 4:6301519-6301519
19 WFS1 NM_006005.3(WFS1): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs142671083 4:6302646-6302646 4:6300919-6300919
20 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 4:6296771-6296771 4:6295044-6295044
21 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 4:6303479-6303479 4:6301752-6301752
22 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 4:6302918-6302918 4:6301191-6301191
23 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 4:6292945-6292945 4:6291218-6291218
24 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided 15:28447255-28447255 15:28202109-28202109

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

74
# 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

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

Molecular functions related to Wolfram-Like Syndrome, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 WFS1 HERC2

Sources for Wolfram-Like Syndrome, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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