ERVR
MCID: WGN003
MIFTS: 49

Wagner Syndrome (ERVR) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Wagner Syndrome

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NIH Rare Diseases:42 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, and has symptoms including 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.

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.

Description from OMIM:46 143200

Aliases & Classifications for Wagner Syndrome

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Sources:
21Genetics Home Reference, 48Orphanet, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Wagner Syndrome, Aliases & Descriptions:

Name: Wagner Syndrome 42 21 48 62
Wagner Disease 42 20 22 21 48 62
Hyaloideoretinal Degeneration of Wagner 42 21 62
Vcan-Related Vitreoretinopathy 21 48 62
Wagner Vitreoretinal Degeneration 42 21
Erosive Vitreoretinopathy 42 20
Wagner Vitreoretinopathy 21 62
 
Wagner Syndrome 1 46 62
Wgn1 42 62
Dominant Hyaloideoretinal Dystrophy of Wagner 48
Vitreoretinal Degeneration, Wagner Type 48
Wagner Syndrome Type 1 42
Ervr 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
wagner disease:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

OMIM46 143200
MESH via Orphanet35 C536075
ICD10 via Orphanet26 H35.5
UMLS via Orphanet63 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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Symptoms by clinical synopsis from OMIM:

143200

Clinical features from OMIM:

143200

HPO human phenotypes related to Wagner Syndrome:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 glaucoma HP:0000501
3 cataract HP:0000518
4 chorioretinal atrophy HP:0000533
5 myopia HP:0000545
6 visual loss HP:0000572
7 optic atrophy HP:0000648
8 vitreoretinal degeneration HP:0000655
9 visual field defect HP:0001123
10 peripheral traction retinal detachment HP:0007643
11 loss of retinal pigment epithelium HP:0007722

Drugs & Therapeutics for Wagner Syndrome

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Drug clinical trials:

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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:

32
Eye, Retina

Animal Models for Wagner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wagner Syndrome:

36
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 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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Expression patterns in normal tissues for genes affiliated with Wagner Syndrome

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/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
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 adhesion37
Focal Adhesion37
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:
44Novoseek, 24HMDB
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Compounds related to Wagner Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alginate449.3COL2A1, VCAN
2sulfate44 2410.3COL2A1, VCAN
3glycosaminoglycan449.0COL2A1, VCAN
4oligonucleotide448.7COL2A1, COL11A1, VCAN

GO Terms for genes affiliated with Wagner Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet