Aliases & Classifications for Wagner Syndrome

MalaCards integrated aliases for Wagner Syndrome:

Name: Wagner Syndrome 49 24 28
Hyaloideoretinal Degeneration of Wagner 49 24 69
Wagner Vitreoretinal Degeneration 49 24
Vcan-Related Vitreoretinopathy 24
Erosive Vitreoretinopathy 49
Wagner Vitreoretinopathy 24
Wagner Syndrome Type 1 49
Wagner Disease 24
Ervr 49
Wgn1 49

Classifications:



External Ids:

UMLS 69 C1840452

Summaries for Wagner Syndrome

NIH Rare Diseases : 49 Wagner syndrome is a hereditary eye disorder that leads to progressive vision loss. It is characterized by changes to the thick, clear gel that fills the eyeball (the vitrous), in which it becomes thin and watery and appears empty. The first signs and symptoms usually appear in childhood, but onset may be as early as age 2. Signs and symptoms may include: thinning of the light-sensitive tissue that lines the back of the eye (retinal detachment), abnormalities of the blood vessels within the retina (known as the choroid), and degeneration of the retina and choroid. Wagner syndrome is caused by mutations in the VCAN gene and is inherited in an autosomal dominant manner. Treatment varies depending on the signs and symptoms in each individual and may include the use of glasses or contact lenses and vitreoretinal surgery. Last updated: 1/23/2017

MalaCards based summary : Wagner Syndrome, also known as hyaloideoretinal degeneration of wagner, is related to vcan-related vitreoretinopathy and wagner vitreoretinopathy. An important gene associated with Wagner Syndrome is VCAN (Versican), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye and retina.

Genetics Home Reference : 24 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.

Related Diseases for Wagner Syndrome

Diseases related to Wagner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 vcan-related vitreoretinopathy 12.5
2 wagner vitreoretinopathy 11.8
3 stickler syndrome, type i, nonsyndromic ocular 10.9
4 retinitis 9.8
5 blood group, i system 9.8
6 retinal detachment 9.8
7 cataract 9.8
8 stickler syndrome 9.8
9 uveitis 9.8
10 vitreous syneresis 9.6 COL2A1 VCAN
11 vitreoretinal dystrophy 9.5 COL2A1 VCAN
12 metaphyseal chondrodysplasia, jansen type 9.4 COL2A1 VCAN

Graphical network of the top 20 diseases related to Wagner Syndrome:



Diseases related to Wagner Syndrome

Symptoms & Phenotypes for Wagner Syndrome

Drugs & Therapeutics for Wagner Syndrome

Search Clinical Trials , NIH Clinical Center for Wagner Syndrome

Genetic Tests for Wagner Syndrome

Genetic tests related to Wagner Syndrome:

# Genetic test Affiliating Genes
1 Wagner Syndrome 28 VCAN

Anatomical Context for Wagner Syndrome

MalaCards organs/tissues related to Wagner Syndrome:

38
Eye, Retina

Publications for Wagner Syndrome

Articles related to Wagner Syndrome:

(show all 15)
# Title Authors Year
1
WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family. ( 29071374 )
2018
2
Multimodal Imaging in Wagner Syndrome. ( 27327288 )
2016
3
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes. ( 26284746 )
2015
4
Congenital glaucoma in Wagner syndrome. ( 24767812 )
2014
5
A family with Wagner syndrome with uveitis and a new versican mutation. ( 24174867 )
2013
6
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. ( 22739342 )
2013
7
De novo splice mutation in the versican gene in a family with Wagner syndrome. ( 23571384 )
2013
8
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. ( 23592912 )
2013
9
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. ( 19901218 )
2009
10
Clinical characterisation and molecular analysis of Wagner syndrome. ( 17035272 )
2007
11
Identification of the genetic defect in the original Wagner syndrome family. ( 16636652 )
2006
12
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. ( 16043844 )
2005
13
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. ( 10729292 )
2000
14
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
15
The Wagner syndrome versus hereditary arthroophthalmopathy. ( 7182967 )
1982

Variations for Wagner Syndrome

ClinVar genetic disease variations for Wagner Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 VCAN NM_004385.4(VCAN): c.4004-2A> G single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
2 VCAN NM_004385.4(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
3 VCAN NM_004385.4(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
4 VCAN NM_004385.4(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
5 VCAN NM_004385.4(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088
6 VCAN NM_004385.4(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
7 VCAN NM_004385.4(VCAN): c.9265+2T> A single nucleotide variant Pathogenic rs397515437 GRCh37 Chromosome 5, 82838089: 82838089
8 VCAN NM_004385.4(VCAN): c.4004-1G> C single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
9 VCAN NM_004385.4(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 GRCh37 Chromosome 5, 82832820: 82832820
10 VCAN NM_004385.4(VCAN): c.4004-1G> T single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
11 VCAN NM_004385.4(VCAN): c.9265+1G> T single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088

Expression for Wagner Syndrome

Search GEO for disease gene expression data for Wagner Syndrome.

Pathways for Wagner Syndrome

GO Terms for Wagner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.16 COL2A1 VCAN
2 proteinaceous extracellular matrix GO:0005578 8.96 COL2A1 VCAN
3 endoplasmic reticulum lumen GO:0005788 8.62 COL2A1 VCAN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL2A1 VCAN
2 skeletal system development GO:0001501 8.96 COL2A1 VCAN
3 central nervous system development GO:0007417 8.62 COL2A1 VCAN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL2A1 VCAN

Sources for Wagner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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