ERVR
MCID: WGN003
MIFTS: 48

Wagner Syndrome (ERVR) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Wagner Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: 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 retina, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Description from OMIM:48 143200

Aliases & Classifications for Wagner Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
wagner disease:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

wagner syndrome 44 22 50 63
wagner disease 44 21 23 22 50
hyaloideoretinal degeneration of wagner 44 22 63
wagner vitreoretinal degeneration 44 22
vcan-related vitreoretinopathy 22 50
erosive vitreoretinopathy 44 21
dominant hyaloideoretinal dystrophy of wagner 50
vitreoretinal degeneration, wagner type 50
wagner vitreoretinopathy 22
wagner syndrome type 1 44
wagner syndrome 1 48
wgn1 44
ervr 44


External Ids:

OMIM48 143200
MESH via Orphanet37 C536075
ICD10 via Orphanet27 H35.5
SNOMED-CT via Orphanet60 232064001
UMLS via Orphanet64 C0339540, C1840452

Related Diseases for Wagner Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

143200

Clinical features from OMIM:

143200

Drugs & Therapeutics for Wagner Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Wagner Syndrome

Drug clinical trials:

Search ClinicalTrials for Wagner Syndrome

Search NIH Clinical Center for Wagner Syndrome

Search CenterWatch for Wagner Syndrome

Genetic Tests for Wagner Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Wagner Syndrome:

id Genetic test Affiliating Genes
1 Wagner Syndrome21 23 VCAN
2 Erosive Vitreoretinopathy21 VCAN

Anatomical Context for Wagner Syndrome

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34MalaCards
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MalaCards organs/tissues related to Wagner Syndrome:

34
Eye, Retina

Animal Models for Wagner Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Wagner Syndrome:

38
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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53PubMed
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Articles related to Wagner Syndrome:

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

Variations for Wagner Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Wagner Syndrome:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wagner Syndrome

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Pathways for genes affiliated with Wagner Syndrome

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51PathCards, 61Thomson Reuters, 13EMD Millipore, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG, 56Reactome
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Pathways related to Wagner Syndrome according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3VCAN, COL2A1
29.3COL2A1, VCAN
39.0COL2A1, COL11A2
4
Show member pathways
8.5COL11A2, COL11A1, COL2A1
58.5COL2A1, COL11A2, COL11A1
6
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.5COL11A2, COL11A1, COL2A1
78.5COL11A2, COL11A1, COL2A1
88.5COL11A2, COL11A1, COL2A1
9
Show member pathways
8.5COL2A1, COL11A1, COL11A2
10
Show member pathways
8.5COL2A1, COL11A1, COL11A2
11
Show member pathways
8.5COL2A1, COL11A1, COL11A2
12
Show member pathways
8.0COL11A2, COL2A1, COL11A1, VCAN

Compounds for genes affiliated with Wagner Syndrome

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46Novoseek, 25HMDB
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Compounds related to Wagner Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alginate469.3COL2A1, VCAN
2sulfate46 2510.3COL2A1, VCAN
3glycosaminoglycan469.0COL2A1, VCAN
4oligonucleotide468.7COL2A1, COL11A1, VCAN

GO Terms for genes affiliated with Wagner Syndrome

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17Gene Ontology
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Cellular components related to Wagner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:0055929.0COL11A1, COL11A2
2endoplasmic reticulum lumenGO:0057888.2COL2A1, COL11A1, COL11A2
3extracellular regionGO:0055768.0COL2A1, COL11A1, COL11A2, VCAN

Biological processes related to Wagner Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
2cartilage condensationGO:0015029.4COL2A1, COL11A1
3inner ear morphogenesisGO:0424729.4COL2A1, COL11A1
4visual perceptionGO:0076019.3COL2A1, COL11A1
5palate developmentGO:0600219.0COL11A2, COL2A1
6cartilage developmentGO:0512168.9COL11A2, COL2A1
7collagen fibril organizationGO:0301998.7COL2A1, COL11A1, COL11A2
8skeletal system developmentGO:0015018.7COL2A1, COL11A2
9collagen catabolic processGO:0305748.7COL11A2, COL11A1, COL2A1
10extracellular matrix disassemblyGO:0226178.7COL2A1, COL11A1, COL11A2
11sensory perception of soundGO:0076058.7COL11A2, COL11A1, COL2A1
12extracellular matrix organizationGO:0301988.2COL2A1, COL11A1, COL11A2, VCAN

Molecular functions related to Wagner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:0300208.9COL2A1, COL11A2
2protein binding, bridgingGO:0306748.8COL11A1, COL11A2
3metal ion bindingGO:0468728.5COL2A1, COL11A1, COL11A2

Products for genes affiliated with Wagner Syndrome

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Sources for Wagner Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet