MCID: WFS002
MIFTS: 9

Wfs1 Wolfram Syndrome Spectrum Disorder

Aliases & Classifications for Wfs1 Wolfram Syndrome Spectrum Disorder

MalaCards integrated aliases for Wfs1 Wolfram Syndrome Spectrum Disorder:

Name: Wfs1 Wolfram Syndrome Spectrum Disorder 24

Summaries for Wfs1 Wolfram Syndrome Spectrum Disorder

MalaCards based summary : Wfs1 Wolfram Syndrome Spectrum Disorder is related to wolfram syndrome 1 and 3-methylglutaconic aciduria, type iii. An important gene associated with Wfs1 Wolfram Syndrome Spectrum Disorder is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include brain.

GeneReviews: NBK4144

Related Diseases for Wfs1 Wolfram Syndrome Spectrum Disorder

Diseases related to Wfs1 Wolfram Syndrome Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 1 10.2
2 3-methylglutaconic aciduria, type iii 10.2
3 deafness, autosomal dominant 6 10.2
4 branchiootic syndrome 1 10.2
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 sensorineural hearing loss 10.2
7 wolfram syndrome 10.2
8 neurogenic bladder 10.2
9 peripheral nervous system disease 10.2
10 neuropathy 10.2
11 dysphagia 10.2
12 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2

Graphical network of the top 20 diseases related to Wfs1 Wolfram Syndrome Spectrum Disorder:



Diseases related to Wfs1 Wolfram Syndrome Spectrum Disorder

Symptoms & Phenotypes for Wfs1 Wolfram Syndrome Spectrum Disorder

Drugs & Therapeutics for Wfs1 Wolfram Syndrome Spectrum Disorder

Search Clinical Trials , NIH Clinical Center for Wfs1 Wolfram Syndrome Spectrum Disorder

Genetic Tests for Wfs1 Wolfram Syndrome Spectrum Disorder

Anatomical Context for Wfs1 Wolfram Syndrome Spectrum Disorder

MalaCards organs/tissues related to Wfs1 Wolfram Syndrome Spectrum Disorder:

40
Brain

Publications for Wfs1 Wolfram Syndrome Spectrum Disorder

Articles related to Wfs1 Wolfram Syndrome Spectrum Disorder:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome. 24
31363008 2020
2
Current Landscape of Treatments for Wolfram Syndrome. 24
31420094 2019
3
Scales for the clinical evaluation of cerebellar disorders. 24
29903450 2018
4
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
5
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
6
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. 24
28335035 2017
7
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. 24
27395765 2016
8
Wolfram Syndrome: Diagnosis, Management, and Treatment. 24
26742931 2016
9
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. 24
24890733 2015
10
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 24
25371195 2015
11
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. 24
25056293 2014
12
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 24
23531866 2013
13
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. 24
23903355 2013
14
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype. 24
22771918 2012
15
Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. 24
18551525 2008
16
Hearing impairment in genotyped Wolfram syndrome patients. 24
18700423 2008
17
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 24
18544103 2008
18
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. 24
17947299 2008
19
Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered? 24
17727381 2007
20
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 24
17846994 2007
21
Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes. 24
17536072 2007
22
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. 24
17568405 2007
23
Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities. 24
17297000 2007
24
Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. 24
16928372 2006
25
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 24
16648378 2006
26
Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. 24
16639390 2006
27
Bowel dysfunction in Wolfram syndrome. 24
16443921 2006
28
Pigmentary maculopathy in a patient with Wolfram syndrome. 24
16462870 2006
29
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. 24
16151413 2005
30
The prevalence of coeliac disease in adult Danish patients with type 1 diabetes with and without nephropathy. 24
15918021 2005
31
Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. 24
15845065 2005
32
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. 24
15605410 2005
33
Phenotype-genotype correlations in a series of wolfram syndrome families. 24
15277431 2004
34
Neurodegenerative disorders associated with diabetes mellitus. 24
15175861 2004
35
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. 24
14676474 2004
36
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. 24
12955714 2003
37
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. 24
12754709 2003
38
Molecular characterization of WFS1 in patients with Wolfram syndrome. 24
12707373 2003
39
Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. 24
12650300 2003
40
Complete Wolfram's syndrome and successful pregnancy. 24
12381487 2002
41
WFS1 mutations in Spanish patients with diabetes mellitus and deafness. 24
12107816 2002
42
Occurrence of celiac disease after onset of type 1 diabetes: a 6-year prospective longitudinal study. 24
11986443 2002
43
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. 24
11317350 2001
44
Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. 24
11317648 2001
45
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 24
11295831 2001
46
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. 24
10739754 2000
47
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. 24
10521293 1999
48
Evidence of widespread axonal pathology in Wolfram syndrome. 24
10483789 1999
49
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. 24
9491819 1998
50
Wolfram syndrome: a neuropathological study. 24
9113209 1997

Variations for Wfs1 Wolfram Syndrome Spectrum Disorder

Expression for Wfs1 Wolfram Syndrome Spectrum Disorder

Search GEO for disease gene expression data for Wfs1 Wolfram Syndrome Spectrum Disorder.

Pathways for Wfs1 Wolfram Syndrome Spectrum Disorder

GO Terms for Wfs1 Wolfram Syndrome Spectrum Disorder

Sources for Wfs1 Wolfram Syndrome Spectrum Disorder

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