WFSL
MCID: WLF011
MIFTS: 28

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 73
Wfsl 57 75
Hearing Loss, Progressive, with Optic Atrophy and/or Impaired Glucose Regulation 57
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 75
Wolfram-Like Syndrome Autosomal Dominant 75
Wolfram Syndrome-Like Disease 29
Wolfram-Like Syndrome 59

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:



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 wfsl, is related to wolfram syndrome 1 and wfs1-related disorders. 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 : 75 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

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 wfs1-related disorders 9.8 LOC107986257 WFS1
3 wolfram syndrome 9.7 LOC107986257 WFS1

Symptoms & Phenotypes for Wolfram-Like Syndrome, Autosomal Dominant

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

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

59 32 (show all 26)
# 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 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
5 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
6 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
7 anxiety 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000739
8 glucose intolerance 59 32 occasional (7.5%) Frequent (79-30%) HP:0000833
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 psychosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000709
13 glaucoma 59 32 occasional (7.5%) Frequent (79-30%) HP:0000501
14 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
15 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
16 congenital sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008527
17 severe postnatal growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008850
18 autistic behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000729
19 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
20 primary gonadal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008193
21 central diabetes insipidus 59 32 frequent (33%) Frequent (79-30%) HP:0000863
22 gastrointestinal dysmotility 59 32 frequent (33%) Frequent (79-30%) HP:0002579
23 hearing impairment 32 HP:0000365
24 hallucinations 32 occasional (7.5%) HP:0000738
25 autism 32 occasional (7.5%) HP:0000717
26 schizophrenia 32 occasional (7.5%) HP:0100753

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 Year
1
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. ( 27217304 )
2016

Variations for Wolfram-Like Syndrome, Autosomal Dominant

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

75
# 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 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
2 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh38 Chromosome 4, 6302385: 6302385
3 WFS1 WFS1, ARG228GLN undetermined variant Pathogenic
4 WFS1 WFS1, LYS836ASN single nucleotide variant Pathogenic
5 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
6 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh38 Chromosome 4, 6301846: 6301846
7 WFS1 NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser) single nucleotide variant Pathogenic rs387906931 GRCh37 Chromosome 4, 6303860: 6303860
8 WFS1 NM_006005.3(WFS1): c.2338G> A (p.Gly780Ser) single nucleotide variant Pathogenic rs387906931 GRCh38 Chromosome 4, 6302133: 6302133
9 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh37 Chromosome 4, 6292945: 6292945
10 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh38 Chromosome 4, 6291218: 6291218
11 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
12 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
13 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
14 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
15 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
16 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
17 WFS1 NM_006005.3(WFS1): c.2425G> A (p.Glu809Lys) single nucleotide variant Pathogenic/Likely pathogenic rs71539673 GRCh38 Chromosome 4, 6302220: 6302220
18 WFS1 NM_006005.3(WFS1): c.2425G> A (p.Glu809Lys) single nucleotide variant Pathogenic/Likely pathogenic rs71539673 GRCh37 Chromosome 4, 6303947: 6303947
19 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh37 Chromosome 15, 28447255: 28447255
20 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh38 Chromosome 15, 28202109: 28202109

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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74 UMLS via Orphanet
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