MCID: WGN003
MIFTS: 39

Wagner Syndrome malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Wagner Syndrome

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NIH Rare Diseases:41 Wagner syndrome is a hereditary eye disease characterized by a central vitreous cavity which appears empty on slit-lamp examination. the condition was named after the swiss ophthalmologist hans wagner, who described a family with this condition in 1938. since then less than 50 families have been described. the first signs usually emerge during early adolescence, but onset may be as early as age 2. wagner syndrome is caused by mutations in the vcan gene. it is inherited in an autosomal dominant manner. last updated: 12/7/2009

MalaCards based summary: Wagner Syndrome, also known as wagner disease, is related to retinal detachment and stickler syndrome. An important gene associated with Wagner Syndrome is VCAN (versican), and among its related pathways are Cell adhesion ECM remodeling and Spinal Cord Injury. The compounds alginate and sulfate have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:21 Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent.

Aliases & Classifications for Wagner Syndrome

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Sources:
21Genetics Home Reference, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 60UMLS, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Wagner Syndrome, Aliases & Descriptions:

Name: Wagner Syndrome 41 21 47
Wagner Disease 41 20 21 47 22
Hyaloideoretinal Degeneration of Wagner 41 21 60
Vcan-Related Vitreoretinopathy 41 21 47
Dominant Hyaloideoretinal Dystrophy of Wagner 41 47
Vitreoretinal Degeneration, Wagner Type 41 47
 
Wagner Vitreoretinal Degeneration 41 21
Erosive Vitreoretinopathy 41 20
Wagner Vitreoretinopathy 21
Wagner Syndrome Type 1 41
Ervr 41
Wgn1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
wagner disease:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet47 898
MESH via Orphanet34 C536075
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0339540, C1840452

Related Diseases for Wagner Syndrome

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Graphical network of diseases related to Wagner Syndrome:



Diseases related to wagner syndrome

Symptoms for Wagner Syndrome

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Drugs & Therapeutics for Wagner Syndrome

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Drug clinical trials:

Search ClinicalTrials for Wagner Syndrome

Search NIH Clinical Center for Wagner Syndrome

Genetic Tests for Wagner Syndrome

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Genetic tests related to Wagner Syndrome:

id Genetic test Affiliating Genes
1 Wagner Syndrome20 22 VCAN
2 Erosive Vitreoretinopathy20 VCAN

Anatomical Context for Wagner Syndrome

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MalaCards organs/tissues related to Wagner Syndrome:

31
Eye

Animal Models for Wagner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wagner Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5COL2A1, COL11A1, VCAN
2MP:00053828.5COL2A1, COL11A1, COL11A2
3MP:00053778.4COL11A2, COL11A1, COL2A1
4MP:00053908.0COL2A1, COL11A1, COL11A2, VCAN

Publications for Wagner Syndrome

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Articles related to Wagner Syndrome:

(show all 12)
idTitleAuthorsYear
1
Congenital glaucoma in Wagner syndrome. (24767812)
2014
2
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. (22739342)
2013
3
De novo splice mutation in the versican gene in a family with Wagner syndrome. (23571384)
2013
4
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. (23592912)
2013
5
A family with Wagner syndrome with uveitis and a new versican mutation. (24174867)
2013
6
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. (19901218)
2009
7
Clinical characterisation and molecular analysis of Wagner syndrome. (17035272)
2007
8
Identification of the genetic defect in the original Wagner syndrome family. (16636652)
2006
9
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. (16043844)
2005
10
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. (10729292)
2000
11
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). (8317498)
1993
12
The Wagner syndrome versus hereditary arthroophthalmopathy. (7182967)
1982

Variations for Wagner Syndrome

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Clinvar genetic disease variations for Wagner Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1VCANNM_004385.4(VCAN): c.4004-2A> Gsingle nucleotide variantPathogenicrs80356555GRCh37Chr 5, 82832824: 82832824
2VCANNM_004385.4(VCAN): c.4004-1G> Asingle nucleotide variantPathogenicrs80356554GRCh37Chr 5, 82832825: 82832825
3VCANNM_004385.4(VCAN): c.4004-5T> Asingle nucleotide variantPathogenicrs80356556GRCh37Chr 5, 82832821: 82832821
4VCANNM_004385.4(VCAN): c.4004-5T> Csingle nucleotide variantPathogenicrs80356556GRCh37Chr 5, 82832821: 82832821
5VCANNM_004385.4(VCAN): c.9265+1G> Asingle nucleotide variantPathogenicrs80356553GRCh37Chr 5, 82838088: 82838088
6VCANNM_004385.4(VCAN): c.4004-2A> Tsingle nucleotide variantPathogenicrs80356555GRCh37Chr 5, 82832824: 82832824
7VCANNM_004385.4(VCAN): c.9265+2T> Asingle nucleotide variantPathogenicrs397515437GRCh37Chr 5, 82838089: 82838089
8VCANNM_004385.4(VCAN): c.4004-1G> Csingle nucleotide variantPathogenicrs80356554GRCh37Chr 5, 82832825: 82832825

Expression for genes affiliated with Wagner Syndrome

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Search GEO for disease gene expression data for Wagner Syndrome.

Pathways for genes affiliated with Wagner Syndrome

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Pathways related to Wagner Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Metalloproteases in connective tissue degradation
9.3VCAN, COL2A1
29.3COL2A1, VCAN
39.0COL2A1, COL11A2
48.5COL11A2, COL11A1, COL2A1
58.5COL11A2, COL11A1, COL2A1
68.5COL2A1, COL11A1, COL11A2
7
Show member pathways
8.5COL2A1, COL11A1, COL11A2
8
Show member pathways
8.5COL2A1, COL11A1, COL11A2
9
Show member pathways
8.5COL2A1, COL11A1, COL11A2
10
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.5COL2A1, COL11A1, COL11A2
11
Show member pathways
8.5COL2A1, COL11A1, COL11A2
12
Show member pathways
8.0COL2A1, COL11A1, COL11A2, VCAN

Compounds for genes affiliated with Wagner Syndrome

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Wagner Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1alginate439.3COL2A1, VCAN
2sulfate43 2410.3COL2A1, VCAN
3glycosaminoglycan439.0COL2A1, VCAN
4oligonucleotide438.7COL2A1, COL11A1, VCAN

GO Terms for genes affiliated with Wagner Syndrome

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Cellular components related to Wagner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:00055929.0COL11A1, COL11A2
2endoplasmic reticulum lumenGO:00057888.2COL2A1, COL11A1, COL11A2
3extracellular regionGO:00055768.0COL2A1, COL11A1, COL11A2, VCAN

Biological processes related to Wagner Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00060299.5COL2A1, COL11A1
2cartilage condensationGO:00015029.4COL2A1, COL11A1
3inner ear morphogenesisGO:00424729.4COL2A1, COL11A1
4visual perceptionGO:00076019.3COL2A1, COL11A1
5palate developmentGO:00600219.0COL11A2, COL2A1
6cartilage developmentGO:00512168.9COL11A2, COL2A1
7collagen fibril organizationGO:00301998.7COL2A1, COL11A1, COL11A2
8skeletal system developmentGO:00015018.7COL2A1, COL11A2
9collagen catabolic processGO:00305748.7COL11A2, COL11A1, COL2A1
10extracellular matrix disassemblyGO:00226178.7COL2A1, COL11A1, COL11A2
11sensory perception of soundGO:00076058.7COL11A2, COL11A1, COL2A1
12extracellular matrix organizationGO:00301988.2COL2A1, COL11A1, COL11A2, VCAN

Molecular functions related to Wagner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:00300208.9COL2A1, COL11A2
2protein binding, bridgingGO:00306748.8COL11A1, COL11A2
3metal ion bindingGO:00468728.5COL2A1, COL11A1, COL11A2

Products for genes affiliated with Wagner Syndrome

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Sources for Wagner Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet