WFSL
MCID: WLF011
MIFTS: 24

Wolfram-Like Syndrome, Autosomal Dominant (WFSL) malady

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

Aliases & Classifications for Wolfram-Like Syndrome, Autosomal Dominant

Aliases & Descriptions for Wolfram-Like Syndrome, Autosomal Dominant:

Name: Wolfram-Like Syndrome, Autosomal Dominant 54 13 69
Wolfram-Like Syndrome Autosomal Dominant 66 29
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 66
Wolfram-Like Syndrome 56
Wfsl 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:



External Ids:

OMIM 54 614296
Orphanet 56 ORPHA411590
ICD10 via Orphanet 34 E13.8
MedGen 40 C3280358
MeSH 42 D014929

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

OMIM : 54 This autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing... (614296) more...

MalaCards based summary : Wolfram-Like Syndrome, Autosomal Dominant, also known as wolfram-like syndrome autosomal dominant, is related to wolfram syndrome-like disease, and has symptoms including depression, diabetes mellitus and optic atrophy. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 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 11.2

Symptoms & Phenotypes for Wolfram-Like Syndrome, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

614296

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

66
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

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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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