ERVR
MCID: WGN003
MIFTS: 27

Wagner Syndrome (ERVR)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Wagner Syndrome

MalaCards integrated aliases for Wagner Syndrome:

Name: Wagner Syndrome 54 26 38 30 6
Hyaloideoretinal Degeneration of Wagner 54 26 74
Wagner Vitreoretinal Degeneration 54 26
Vcan-Related Vitreoretinopathy 26
Erosive Vitreoretinopathy 54
Wagner Vitreoretinopathy 26
Wagner Syndrome Type 1 54
Wagner Disease 26
Ervr 54
Wgn1 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

KEGG 38 H02073
UMLS 74 C1840452

Summaries for Wagner Syndrome

NIH Rare Diseases : 54 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.

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

Genetics Home Reference : 26 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 11)
# Related Disease Score Top Affiliating Genes
1 wagner vitreoretinopathy 12.0
2 vcan-related vitreoretinopathy 11.5
3 stickler syndrome, type i, nonsyndromic ocular 11.1
4 vitreoretinal degeneration 10.4
5 retinal detachment 9.9
6 glaucoma 3, primary congenital, a 9.9
7 stickler syndrome 9.9
8 uveitis 9.9
9 vitreous syneresis 9.8 COL2A1 VCAN
10 vitreoretinal dystrophy 9.7 COL2A1 VCAN
11 metaphyseal chondrodysplasia, jansen type 9.6 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 30 VCAN

Anatomical Context for Wagner Syndrome

MalaCards organs/tissues related to Wagner Syndrome:

42
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
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome. ( 30055036 )
2018
3
Multimodal Imaging in Wagner Syndrome. ( 27327288 )
2016
4
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes. ( 26284746 )
2015
5
Congenital glaucoma in Wagner syndrome. ( 24767812 )
2014
6
A family with Wagner syndrome with uveitis and a new versican mutation. ( 24174867 )
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
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. ( 22739342 )
2013
10
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. ( 19901218 )
2009
11
Clinical characterisation and molecular analysis of Wagner syndrome. ( 17035272 )
2007
12
Identification of the genetic defect in the original Wagner syndrome family. ( 16636652 )
2006
13
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. ( 16043844 )
2005
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 top 50) (show all 328)
# Gene Variation Type Significance SNP ID Assembly Location
1 VCAN NM_004385.4(VCAN): c.4547A> G (p.Lys1516Arg) single nucleotide variant Benign rs309559 GRCh37 Chromosome 5, 82833369: 82833369
2 VCAN NM_004385.4(VCAN): c.4547A> G (p.Lys1516Arg) single nucleotide variant Benign rs309559 GRCh38 Chromosome 5, 83537550: 83537550
3 VCAN NM_004385.4(VCAN): c.5477G> A (p.Arg1826His) single nucleotide variant Benign rs188703 GRCh37 Chromosome 5, 82834299: 82834299
4 VCAN NM_004385.4(VCAN): c.5477G> A (p.Arg1826His) single nucleotide variant Benign rs188703 GRCh38 Chromosome 5, 83538480: 83538480
5 VCAN NM_004385.4(VCAN): c.4604A> G (p.Glu1535Gly) single nucleotide variant Benign/Likely benign rs61749614 GRCh37 Chromosome 5, 82833426: 82833426
6 VCAN NM_004385.4(VCAN): c.4604A> G (p.Glu1535Gly) single nucleotide variant Benign/Likely benign rs61749614 GRCh38 Chromosome 5, 83537607: 83537607
7 VCAN NM_004385.4(VCAN): c.5187G> A (p.Glu1729=) single nucleotide variant Benign/Likely benign rs35648048 GRCh37 Chromosome 5, 82834009: 82834009
8 VCAN NM_004385.4(VCAN): c.5187G> A (p.Glu1729=) single nucleotide variant Benign/Likely benign rs35648048 GRCh38 Chromosome 5, 83538190: 83538190
9 VCAN NM_004385.4(VCAN): c.5808T> C (p.Gly1936=) single nucleotide variant Benign rs309557 GRCh37 Chromosome 5, 82834630: 82834630
10 VCAN NM_004385.4(VCAN): c.5808T> C (p.Gly1936=) single nucleotide variant Benign rs309557 GRCh38 Chromosome 5, 83538811: 83538811
11 VCAN NM_004385.4(VCAN): c.5859G> T (p.Thr1953=) single nucleotide variant Conflicting interpretations of pathogenicity rs80028865 GRCh37 Chromosome 5, 82834681: 82834681
12 VCAN NM_004385.4(VCAN): c.5859G> T (p.Thr1953=) single nucleotide variant Conflicting interpretations of pathogenicity rs80028865 GRCh38 Chromosome 5, 83538862: 83538862
13 VCAN NM_004385.4(VCAN): c.899C> T (p.Ser300Leu) single nucleotide variant Benign rs2652098 GRCh37 Chromosome 5, 82808072: 82808072
14 VCAN NM_004385.4(VCAN): c.899C> T (p.Ser300Leu) single nucleotide variant Benign rs2652098 GRCh38 Chromosome 5, 83512253: 83512253
15 VCAN NM_004385.4(VCAN): c.3713G> C (p.Arg1238Thr) single nucleotide variant Likely benign rs146560021 GRCh37 Chromosome 5, 82817838: 82817838
16 VCAN NM_004385.4(VCAN): c.3713G> C (p.Arg1238Thr) single nucleotide variant Likely benign rs146560021 GRCh38 Chromosome 5, 83522019: 83522019
17 VCAN NM_004385.4(VCAN): c.4546A> G (p.Lys1516Glu) single nucleotide variant Benign/Likely benign rs144610900 GRCh37 Chromosome 5, 82833368: 82833368
18 VCAN NM_004385.4(VCAN): c.4546A> G (p.Lys1516Glu) single nucleotide variant Benign/Likely benign rs144610900 GRCh38 Chromosome 5, 83537549: 83537549
19 VCAN NM_004385.4(VCAN): c.6767T> C (p.Leu2256Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146630369 GRCh37 Chromosome 5, 82835589: 82835589
20 VCAN NM_004385.4(VCAN): c.6767T> C (p.Leu2256Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146630369 GRCh38 Chromosome 5, 83539770: 83539770
21 VCAN NM_004385.4(VCAN): c.6723A> G (p.Arg2241=) single nucleotide variant Benign rs160279 GRCh37 Chromosome 5, 82835545: 82835545
22 VCAN NM_004385.4(VCAN): c.6723A> G (p.Arg2241=) single nucleotide variant Benign rs160279 GRCh38 Chromosome 5, 83539726: 83539726
23 VCAN NM_004385.4(VCAN): c.6902T> A (p.Phe2301Tyr) single nucleotide variant Benign rs160278 GRCh37 Chromosome 5, 82835724: 82835724
24 VCAN NM_004385.4(VCAN): c.6902T> A (p.Phe2301Tyr) single nucleotide variant Benign rs160278 GRCh38 Chromosome 5, 83539905: 83539905
25 VCAN NM_004385.4(VCAN): c.8622G> A (p.Ala2874=) single nucleotide variant Benign rs3096171 GRCh37 Chromosome 5, 82837444: 82837444
26 VCAN NM_004385.4(VCAN): c.8622G> A (p.Ala2874=) single nucleotide variant Benign rs3096171 GRCh38 Chromosome 5, 83541625: 83541625
27 VCAN NM_004385.4(VCAN): c.6902T> G (p.Phe2301Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs160278 GRCh37 Chromosome 5, 82835724: 82835724
28 VCAN NM_004385.4(VCAN): c.6902T> G (p.Phe2301Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs160278 GRCh38 Chromosome 5, 83539905: 83539905
29 VCAN NM_004385.4(VCAN): c.8809G> T (p.Asp2937Tyr) single nucleotide variant Benign rs160277 GRCh37 Chromosome 5, 82837631: 82837631
30 VCAN NM_004385.4(VCAN): c.8809G> T (p.Asp2937Tyr) single nucleotide variant Benign rs160277 GRCh38 Chromosome 5, 83541812: 83541812
31 VCAN NM_004385.4(VCAN): c.4323G> A (p.Gln1441=) single nucleotide variant Benign rs2548541 GRCh37 Chromosome 5, 82833145: 82833145
32 VCAN NM_004385.4(VCAN): c.4323G> A (p.Gln1441=) single nucleotide variant Benign rs2548541 GRCh38 Chromosome 5, 83537326: 83537326
33 VCAN NM_004385.4(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 GRCh37 Chromosome 5, 82832820: 82832820
34 VCAN NM_004385.4(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 GRCh38 Chromosome 5, 83537001: 83537001
35 VCAN NM_004385.4(VCAN): c.4004-1G> T single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
36 VCAN NM_004385.4(VCAN): c.4004-1G> T single nucleotide variant Pathogenic rs80356554 GRCh38 Chromosome 5, 83537006: 83537006
37 VCAN NM_004385.4(VCAN): c.9265+1G> T single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088
38 VCAN NM_004385.4(VCAN): c.9265+1G> T single nucleotide variant Pathogenic rs80356553 GRCh38 Chromosome 5, 83542269: 83542269
39 VCAN NM_004385.4(VCAN): c.4004-2A> G single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
40 VCAN NM_004385.4(VCAN): c.4004-2A> G single nucleotide variant Pathogenic rs80356555 GRCh38 Chromosome 5, 83537005: 83537005
41 VCAN NM_004385.4(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
42 VCAN NM_004385.4(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
43 VCAN NM_004385.4(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 GRCh38 Chromosome 5, 83537006: 83537006
44 VCAN NM_004385.4(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
45 VCAN NM_004385.4(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 GRCh38 Chromosome 5, 83537002: 83537002
46 VCAN NM_004385.4(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 GRCh38 Chromosome 5, 83537002: 83537002
47 VCAN NM_004385.4(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088
48 VCAN NM_004385.4(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 GRCh38 Chromosome 5, 83542269: 83542269
49 VCAN NM_004385.4(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
50 VCAN NM_004385.4(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 GRCh38 Chromosome 5, 83537005: 83537005

Expression for Wagner Syndrome

Search GEO for disease gene expression data for Wagner Syndrome.

Pathways for Wagner Syndrome

Pathways related to Wagner Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514

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 endoplasmic reticulum lumen GO:0005788 8.96 COL2A1 VCAN
3 collagen-containing extracellular matrix GO:0062023 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 8.96 COL2A1 VCAN
2 central nervous system development GO:0007417 8.62 COL2A1 VCAN

Sources for Wagner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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