MCID: WLF011
MIFTS: 24

Wolfram-Like Syndrome, Autosomal Dominant malady

Categories: Genetic diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases, Infectious 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 51 12 67
Wolfram-Like Syndrome Autosomal Dominant 69 26
Hearing Loss Progressive with Optic Atrophy and/or Impaired Glucose Regulation 69
 
Wolfram-Like Syndrome 53
Wfsl 69

Characteristics:

Orphanet epidemiological data:

53
wolfram-like syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult

HPO:

63
wolfram-like syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 614296
Orphanet53 ORPHA411590
ICD10 via Orphanet30 E13.8
MedGen36 C3280358
MeSH38 D014929

Summaries for Wolfram-Like Syndrome, Autosomal Dominant

About this section
OMIM:51 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 glaucoma, psychosis and autism. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:69 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 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:

 63 53 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma63 53 rare (5%) Frequent (79-30%) HP:0000501
2 psychosis63 53 rare (5%) Very frequent (99-80%) HP:0000709
3 autism63 rare (5%) HP:0000717
4 hallucinations63 rare (5%) HP:0000738
5 anxiety63 53 rare (5%) Very frequent (99-80%) HP:0000739
6 diabetes mellitus63 53 rare (5%) Very frequent (99-80%) HP:0000819
7 glucose intolerance63 53 rare (5%) Frequent (79-30%) HP:0000833
8 schizophrenia63 rare (5%) HP:0100753
9 hearing impairment63 HP:0000365
10 optic atrophy63 53 Very frequent (99-80%) HP:0000648
11 male hypogonadism53 Frequent (79-30%)
12 depression53 Very frequent (99-80%)
13 dementia53 Very frequent (99-80%)
14 autistic behavior53 Very frequent (99-80%)
15 hypothyroidism53 Occasional (29-5%)
16 delayed puberty53 Frequent (79-30%)
17 central diabetes insipidus53 Frequent (79-30%)
18 progressive cerebellar ataxia53 Frequent (79-30%)
19 respiratory insufficiency53 Occasional (29-5%)
20 gastrointestinal dysmotility53 Frequent (79-30%)
21 peripheral axonal neuropathy53 Frequent (79-30%)
22 congenital sensorineural hearing impairment53 Frequent (79-30%)
23 primary gonadal insufficiency53 Frequent (79-30%)
24 abnormality of the pinna53 Frequent (79-30%)
25 severe postnatal growth retardation53 Occasional (29-5%)
26 abnormality of the upper urinary tract53 Frequent (79-30%)

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 Dominant26

Anatomical Context for Wolfram-Like Syndrome, Autosomal Dominant

About this section

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

35
Eye

Animal Models for Wolfram-Like Syndrome, Autosomal Dominant or affiliated genes

About this section

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:

69
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 variantPathogenicChr na, -1: -1
2WFS1WFS1, LYS836ASNSNVPathogenicChr na, -1: -1
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet