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 56 29 13 6 39 71
Wolfram-Like Syndrome 58 17
Wfsl 56 73
Hearing Loss, Progressive, with Optic Atrophy and/or Impaired Glucose Regulation 56
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 73
Wolfram-Like Syndrome Autosomal Dominant 73
Wolfram Syndrome-Like Disease 29

Characteristics:

Orphanet epidemiological data:

58
wolfram-like syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Wolfram-Like Syndrome, Autosomal Dominant

OMIM : 56 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 1 and megalocornea. 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 : 73 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 1 10.0
2 megalocornea 10.0
3 3-methylglutaconic aciduria, type iii 10.0
4 peters-plus syndrome 10.0
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
6 wolfram syndrome 10.0
7 nephrocalcinosis 10.0
8 wfs1-related disorders 9.2 WFS1 HERC2

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
2 diabetes mellitus 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000819
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 anxiety 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000739
5 psychosis 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000709
6 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
7 autistic behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000729
8 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
9 abnormality of the pinna 58 31 frequent (33%) Frequent (79-30%) HP:0000377
10 abnormality of the upper urinary tract 58 31 frequent (33%) Frequent (79-30%) HP:0010935
11 male hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000026
12 glaucoma 58 31 occasional (7.5%) Frequent (79-30%) HP:0000501
13 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
14 congenital sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008527
15 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
16 primary gonadal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008193
17 gastrointestinal dysmotility 58 31 frequent (33%) Frequent (79-30%) HP:0002579
18 central diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000863
19 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
20 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
21 severe postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008850
22 hallucinations 31 occasional (7.5%) HP:0000738
23 autism 31 occasional (7.5%) HP:0000717
24 schizophrenia 31 occasional (7.5%) HP:0100753
25 impaired glucose tolerance 31 very rare (1%) HP:0040270
26 hearing impairment 31 HP:0000365
27 glucose intolerance 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
21538838 2011
2
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 56 6
20069065 2010
3
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 56 6
18544103 2008
4
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 56 6
16648378 2006
5
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. 6
17492394 2007
6
WFS1 mutations in Spanish patients with diabetes mellitus and deafness. 56
12107816 2002
7
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 6
11295831 2001
8
Wavefront sensorless adaptive optics OCT with the DONE algorithm for in vivo human retinal imaging [Invited]. 61
28736670 2017
9
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. 61
27217304 2016
10
[Modeling of functional working state in hypoxia]. 61
12918267 2003

Variations for Wolfram-Like Syndrome, Autosomal Dominant

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

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 WFS1, ARG228GLNundetermined variant Pathogenic 30554
2 WFS1 WFS1, LYS836ASNSNV Pathogenic 30555
3 WFS1 NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)SNV Pathogenic 30556 rs387906930 4:6303573-6303573 4:6301846-6301846
4 WFS1 NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser)SNV Pathogenic 30559 rs387906931 4:6303860-6303860 4:6302133-6302133
5 WFS1 NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)SNV Pathogenic/Likely pathogenic 215413 rs71539673 4:6303947-6303947 4:6302220-6302220
6 WFS1 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)SNV Pathogenic/Likely pathogenic 189251 rs71530923 4:6279306-6279306 4:6277579-6277579
7 WFS1 NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)SNV Pathogenic/Likely pathogenic 4526 rs74315205 4:6304112-6304112 4:6302385-6302385
8 WFS1 NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)SNV Uncertain significance 374398 rs147157374 4:6302601-6302601 4:6300874-6300874
9 WFS1 NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)SNV Uncertain significance 440419 rs71524360 4:6303246-6303246 4:6301519-6301519
10 WFS1 NM_006005.3(WFS1):c.1124G>A (p.Arg375His)SNV Uncertain significance 504709 rs142671083 4:6302646-6302646 4:6300919-6300919
11 WFS1 NM_006005.3(WFS1):c.683G>A (p.Arg228His)SNV Uncertain significance 198190 rs150771247 4:6293695-6293695 4:6291968-6291968
12 WFS1 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)SNV Uncertain significance 198834 rs757027394 4:6303551-6303551 4:6301824-6301824
13 WFS1 NM_006005.3(WFS1):c.728C>T (p.Ala243Val)SNV Uncertain significance 215381 rs147147660 4:6296783-6296783 4:6295056-6295056
14 WFS1 NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)SNV Uncertain significance 215382 rs142428158 4:6296872-6296872 4:6295145-6295145
15 WFS1 NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)SNV Uncertain significance 215385 rs201282601 4:6302689-6302689 4:6300962-6300962
16 WFS1 NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)SNV Uncertain significance 215389 rs113446173 4:6302893-6302893 4:6301166-6301166
17 WFS1 NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)SNV Uncertain significance 215412 rs544933961 4:6303060-6303060 4:6301333-6301333
18 WFS1 NM_006005.3(WFS1):c.1633G>A (p.Val545Met)SNV Uncertain significance 215391 rs201993978 4:6303155-6303155 4:6301428-6301428
19 WFS1 NM_006005.3(WFS1):c.535G>A (p.Ala179Thr)SNV Uncertain significance 229647 rs776685250 4:6292998-6292998 4:6291271-6291271
20 WFS1 NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)SNV Uncertain significance 166574 rs727503747 4:6296771-6296771 4:6295044-6295044
21 WFS1 NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)SNV Uncertain significance 178597 rs201064551 4:6303479-6303479 4:6301752-6301752
22 WFS1 NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)SNV Uncertain significance 166589 rs727503750 4:6302918-6302918 4:6301191-6301191
23 WFS1 NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)SNV Benign/Likely benign 137911 rs115346085 4:6292945-6292945 4:6291218-6291218
24 HERC2 NM_004667.5(HERC2):c.7617+4A>CSNV not provided 585200 rs1567006110 15:28447255-28447255 15:28202109-28202109

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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