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

About this section

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

Name: Wolfram-Like Syndrome, Autosomal Dominant 52 12 68
Wolfram-Like Syndrome Autosomal Dominant 70 27
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 70
 
Wolfram-Like Syndrome 54
Wfsl 70

Characteristics:

Orphanet epidemiological data:

54
wolfram-like syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult

HPO:

64
wolfram-like syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614296
Orphanet54 ORPHA411590
ICD10 via Orphanet31 E13.8
MedGen37 C3280358
MeSH39 D014929

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

About this section
OMIM:52 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 Array, Array and Array. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:70 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

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome-like disease11.2

Symptoms & Phenotypes for Wolfram-Like Syndrome, Autosomal Dominant

About this section

Symptoms by clinical synopsis from OMIM:

614296

Clinical features from OMIM:

614296

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

 54 64 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male hypogonadism54 Frequent (79-30%)
2 glaucoma64 54 Frequent (79-30%) HP:0000501
3 optic atrophy64 54 Very frequent (99-80%) HP:0000648
4 psychosis64 54 Very frequent (99-80%) HP:0000709
5 depression64 54 Very frequent (99-80%) HP:0000716
6 dementia54 Very frequent (99-80%)
7 autistic behavior54 Very frequent (99-80%)
8 anxiety64 54 Very frequent (99-80%) HP:0000739
9 hypothyroidism54 Occasional (29-5%)
10 delayed puberty54 Frequent (79-30%)
11 glucose intolerance64 54 Frequent (79-30%) HP:0000833
12 central diabetes insipidus54 Frequent (79-30%)
13 progressive cerebellar ataxia54 Frequent (79-30%)
14 respiratory insufficiency54 Occasional (29-5%)
15 gastrointestinal dysmotility54 Frequent (79-30%)
16 peripheral axonal neuropathy54 Frequent (79-30%)
17 congenital sensorineural hearing impairment54 Frequent (79-30%)
18 diabetes mellitus64 54 Very frequent (99-80%) HP:0000819
19 primary gonadal insufficiency54 Frequent (79-30%)
20 abnormality of the pinna54 Frequent (79-30%)
21 severe postnatal growth retardation54 Occasional (29-5%)
22 abnormality of the upper urinary tract54 Frequent (79-30%)
23 hearing impairment64 HP:0000365
24 autism64 HP:0000717
25 hallucinations64 HP:0000738
26 schizophrenia64 HP:0100753

Drugs & Therapeutics for Wolfram-Like Syndrome, Autosomal Dominant

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wolfram-Like Syndrome, Autosomal Dominant

Genetic Tests for Wolfram-Like Syndrome, Autosomal Dominant

About this section

Genetic tests related to Wolfram-Like Syndrome, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Wolfram-Like Syndrome, Autosomal Dominant27

Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

About this section

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

36
Eye

Publications for Wolfram-Like Syndrome, Autosomal Dominant

About this section

Variations for Wolfram-Like Syndrome, Autosomal Dominant

About this section

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

70
id Symbol AA change Variation ID SNP ID
1WFS1p.Ala684ValVAR_011310rs387906930
2WFS1p.Glu864LysVAR_032969rs74315205
3WFS1p.Gly780SerVAR_068344rs387906931
4WFS1p.Asp797TyrVAR_068345
5WFS1p.Lys836AsnVAR_068346

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1WFS1, ARG228GLNundetermined variantPathogenic
2WFS1WFS1, LYS836ASNSNVPathogenic
3WFS1NM_ 006005.3(WFS1): c.2051C> T (p.Ala684Val)SNVPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
4WFS1NM_ 006005.3(WFS1): c.2338G> A (p.Gly780Ser)SNVPathogenicrs387906931GRCh37Chr 4, 6303860: 6303860
5WFS1NM_ 006005.3(WFS1): c.2590G> A (p.Glu864Lys)SNVPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112

Expression for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

About this section
Search GEO for disease gene expression data for Wolfram-Like Syndrome, Autosomal Dominant.

Pathways for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

About this section

GO Terms for genes affiliated with Wolfram-Like Syndrome, Autosomal Dominant

About this section

Sources for Wolfram-Like Syndrome, Autosomal Dominant

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet