ERVR
MCID: WGN003
MIFTS: 36

Wagner Syndrome (ERVR)

Categories: Blood diseases, Eye diseases, Rare diseases

Aliases & Classifications for Wagner Syndrome

MalaCards integrated aliases for Wagner Syndrome:

Name: Wagner Syndrome 52 25 36 29 6
Hyaloideoretinal Degeneration of Wagner 52 25 71
Wagner Vitreoretinal Degeneration 52 25
Vcan-Related Vitreoretinopathy 25
Erosive Vitreoretinopathy 52
Wagner Vitreoretinopathy 25
Wagner Syndrome Type 1 52
Wagner Disease 25
Ervr 52
Wgn1 52

Classifications:



External Ids:

KEGG 36 H02073
UMLS 71 C1840452

Summaries for Wagner Syndrome

Genetics Home Reference : 25 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. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision. Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes.

MalaCards based summary : Wagner Syndrome, also known as hyaloideoretinal degeneration of wagner, is related to vitreoretinal degeneration and stickler syndrome. 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. The drugs Peginterferon alfa-2b and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye and retina.

NIH Rare Diseases : 52 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.

KEGG : 36 Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN, encoding a chondroitin sulfate proteoglycan termed versican.

Related Diseases for Wagner Syndrome

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

Drugs for Wagner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
2
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
3
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
8
Cobalamin Experimental Phase 4 13408-78-1 6857388
9 interferons Phase 4
10 Interferon-alpha Phase 4
11 Trace Elements Phase 4
12 Vitamins Phase 4
13 Micronutrients Phase 4
14 Vitamin B Complex Phase 4
15 Hematinics Phase 4
16 Vitamin B 12 Phase 4
17 Folate Phase 4
18 Nutrients Phase 4
19 Vitamin B12 Phase 4
20 Vitamin B9 Phase 4
21 Calciferol Phase 4
22
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
23 Interferon alpha-2 Phase 2
24 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study to Treat Patients With Chronic HCV Genotype 1 and ESRD Receiving Hemodialysis and Naïve to Prior HCV Therapy With Peginterferon Alfa-2b, the Maximally Tolerated Ribavirin Dose and Boceprevir Unknown status NCT01731301 Phase 4 Ribavirin;Peginterferon;Boceprevir
2 Randomized Clinical Trial to Assess the Effectiveness of Vitamin D and Vitamin B12 Supplementation in Combination With Pegylated Interferon-Alfa Plus Ribavirin for Treating Chronic Hepatitis C. Terminated NCT02120274 Phase 4 Vitamin D;Vitamin B 12
3 A Randomized Trial of Telaprevir, Peginterferon, and Ribavirin Versus Peginterferon and Ribavirin for Treatment of Genotype 1 Hepatitis C Virus With Host Interleukin 28B CC Polymorphism Withdrawn NCT01415141 Phase 4 Peginterferon alfa-2a;Ribavirin;telaprevir
4 A Multi-center, Placebo-Controlled, Dose Ranging Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Following Oral Administration of PSI-7977 in Combination With Pegylated Interferon and Ribavirin in Treatment-Naïve Patients With Chronic HCV Infection Genotype 1, and an Open Label Assessment of PSI-7977 in Patients With HCV Genotypes 2 or 3 Completed NCT01188772 Phase 2 Sofosbuvir;Placebo to match sofosbuvir;PEG;RBV
5 A Phase II Multicenter, Parallel-Group, Randomized, Dose-Ranging Study to Investigate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Following 12 Weeks of Oral Administration of GSK2336805 With Pegylated Interferon and Ribavirin in Treatment-Naïve Subjects With Chronic Genotype 1 or 4 Hepatitis C Infection Completed NCT01648140 Phase 2 GSK2336805 40 mg;GSK2336805 60 mg;Pegylated interferon alpha-2a;Ribavirin;Telaprevir

Search NIH Clinical Center for Wagner Syndrome

Genetic Tests for Wagner Syndrome

Genetic tests related to Wagner Syndrome:

# Genetic test Affiliating Genes
1 Wagner Syndrome 29 VCAN

Anatomical Context for Wagner Syndrome

MalaCards organs/tissues related to Wagner Syndrome:

40
Eye, Retina

Publications for Wagner Syndrome

Articles related to Wagner Syndrome:

(show all 29)
# Title Authors PMID Year
1
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. 61
30055036 2018
2
WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family. 61
29071374 2018
3
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. 61
30740127 2018
4
Multimodal Imaging in Wagner Syndrome. 61
27327288 2016
5
Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment. 61
26757352 2016
6
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes. 61
26284746 2015
7
Congenital glaucoma in Wagner syndrome. 61
24767812 2014
8
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 61
23986190 2013
9
De novo splice mutation in the versican gene in a family with Wagner syndrome. 61
23571384 2013
10
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. 61
23462753 2013
11
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 61
22739342 2013
12
A family with Wagner syndrome with uveitis and a new versican mutation. 61
24174867 2013
13
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. 61
23592912 2013
14
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 61
21738396 2011
15
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 61
19901218 2009
16
VCAN-Related Vitreoretinopathy 61
20301747 2009
17
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
18
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. 61
18950500 2008
19
Clinical characterisation and molecular analysis of Wagner syndrome. 61
17035272 2007
20
Identification of the genetic defect in the original Wagner syndrome family. 61
16636652 2006
21
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 61
16043844 2005
22
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. 61
12912687 2003
23
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 61
12686304 2003
24
[Increased lens opacity, retinal pigment epithelium degeneration and spontaneous retinal detachment in a family. Wagner syndrome]. 61
12227281 2002
25
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. 61
11450497 2001
26
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. 61
10729292 2000
27
Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. 61
10198161 1999
28
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) 61
8317498 1993
29
The Wagner syndrome versus hereditary arthroophthalmopathy. 61
7182967 1982

Variations for Wagner Syndrome

ClinVar genetic disease variations for Wagner Syndrome:

6 (show top 50) (show all 239) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VCAN NM_004385.5(VCAN):c.4004-2A>GSNV Pathogenic 17494 rs80356555 5:82832824-82832824 5:83537005-83537005
2 VCAN NM_004385.5(VCAN):c.4004-1G>ASNV Pathogenic 21405 rs80356554 5:82832825-82832825 5:83537006-83537006
3 VCAN NM_004385.5(VCAN):c.4004-5T>ASNV Pathogenic 21406 rs80356556 5:82832821-82832821 5:83537002-83537002
4 VCAN NM_004385.5(VCAN):c.4004-5T>CSNV Pathogenic 21407 rs80356556 5:82832821-82832821 5:83537002-83537002
5 VCAN NM_004385.5(VCAN):c.9265+1G>ASNV Pathogenic 21408 rs80356553 5:82838088-82838088 5:83542269-83542269
6 VCAN NM_004385.5(VCAN):c.4004-2A>TSNV Pathogenic 41877 rs80356555 5:82832824-82832824 5:83537005-83537005
7 VCAN NM_004385.5(VCAN):c.9265+2T>ASNV Pathogenic 41878 rs397515437 5:82838089-82838089 5:83542270-83542270
8 VCAN NM_004385.5(VCAN):c.4004-1G>CSNV Pathogenic 41879 rs80356554 5:82832825-82832825 5:83537006-83537006
9 VCAN NM_004385.5(VCAN):c.4004-6T>ASNV Pathogenic 219012 rs864309744 5:82832820-82832820 5:83537001-83537001
10 VCAN NM_004385.5(VCAN):c.4004-1G>TSNV Pathogenic 219011 rs80356554 5:82832825-82832825 5:83537006-83537006
11 VCAN NM_004385.5(VCAN):c.9265+1G>TSNV Likely pathogenic 219010 rs80356553 5:82838088-82838088 5:83542269-83542269
12 VCAN NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr)SNV Conflicting interpretations of pathogenicity 259362 rs144502710 5:82816359-82816359 5:83520540-83520540
13 VCAN NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)SNV Conflicting interpretations of pathogenicity 198801 rs160278 5:82835724-82835724 5:83539905-83539905
14 VCAN NM_004385.5(VCAN):c.927T>C (p.Thr309=)SNV Conflicting interpretations of pathogenicity 167819 rs536465380 5:82808100-82808100 5:83512281-83512281
15 VCAN NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)SNV Conflicting interpretations of pathogenicity 167825 rs80028865 5:82834681-82834681 5:83538862-83538862
16 VCAN NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)SNV Conflicting interpretations of pathogenicity 198796 rs146630369 5:82835589-82835589 5:83539770-83539770
17 VCAN NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)SNV Conflicting interpretations of pathogenicity 354401 rs148104757 5:82816056-82816056 5:83520237-83520237
18 VCAN NM_004385.5(VCAN):c.4248C>T (p.Leu1416=)SNV Conflicting interpretations of pathogenicity 354422 rs758617685 5:82833070-82833070 5:83537251-83537251
19 VCAN NM_004385.5(VCAN):c.7035G>A (p.Thr2345=)SNV Conflicting interpretations of pathogenicity 354438 rs200757689 5:82835857-82835857 5:83540038-83540038
20 VCAN NM_004385.5(VCAN):c.9025G>A (p.Glu3009Lys)SNV Conflicting interpretations of pathogenicity 354461 rs146090207 5:82837847-82837847 5:83542028-83542028
21 VCAN NM_004385.5(VCAN):c.157C>T (p.Pro53Ser)SNV Conflicting interpretations of pathogenicity 843872 5:82786003-82786003 5:83490184-83490184
22 VCAN NM_004385.5(VCAN):c.160C>T (p.Pro54Ser)SNV Conflicting interpretations of pathogenicity 860846 5:82786006-82786006 5:83490187-83490187
23 VCAN NM_004385.5(VCAN):c.221A>G (p.Asn74Ser)SNV Conflicting interpretations of pathogenicity 848210 5:82786067-82786067 5:83490248-83490248
24 VCAN NM_004385.5(VCAN):c.7893A>T (p.Leu2631Phe)SNV Conflicting interpretations of pathogenicity 852760 5:82836715-82836715 5:83540896-83540896
25 VCAN NM_004385.5(VCAN):c.9049G>C (p.Ala3017Pro)SNV Conflicting interpretations of pathogenicity 857013 5:82837871-82837871 5:83542052-83542052
26 VCAN NM_004385.5(VCAN):c.*707G>ASNV Conflicting interpretations of pathogenicity 354475 rs545081931 5:82876960-82876960 5:83581141-83581141
27 VCAN NM_004385.5(VCAN):c.*1031T>CSNV Conflicting interpretations of pathogenicity 354488 rs548595991 5:82877284-82877284 5:83581465-83581465
28 VCAN NM_004385.5(VCAN):c.109T>G (p.Ser37Ala)SNV Conflicting interpretations of pathogenicity 354388 rs142740596 5:82785955-82785955 5:83490136-83490136
29 VCAN NM_004385.5(VCAN):c.7895C>T (p.Thr2632Ile)SNV Conflicting interpretations of pathogenicity 354450 rs767660495 5:82836717-82836717 5:83540898-83540898
30 VCAN NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu)SNV Conflicting interpretations of pathogenicity 354453 rs755806449 5:82836885-82836885 5:83541066-83541066
31 VCAN NM_004385.5(VCAN):c.8454G>A (p.Ala2818=)SNV Conflicting interpretations of pathogenicity 354459 rs773474075 5:82837276-82837276 5:83541457-83541457
32 VCAN NM_004385.5(VCAN):c.3204C>T (p.Gly1068=)SNV Conflicting interpretations of pathogenicity 354416 rs142805131 5:82817329-82817329 5:83521510-83521510
33 VCAN NM_004385.5(VCAN):c.8272G>T (p.Gly2758Cys)SNV Conflicting interpretations of pathogenicity 354456 rs577603057 5:82837094-82837094 5:83541275-83541275
34 VCAN NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys)SNV Conflicting interpretations of pathogenicity 354407 rs188853533 5:82816667-82816667 5:83520848-83520848
35 VCAN NM_004385.5(VCAN):c.9481C>G (p.Leu3161Val)SNV Conflicting interpretations of pathogenicity 354466 rs765359111 5:82843891-82843891 5:83548072-83548072
36 VCAN NM_004385.5(VCAN):c.6169A>C (p.Arg2057=)SNV Uncertain significance 354433 rs886060826 5:82834991-82834991 5:83539172-83539172
37 VCAN NM_004385.5(VCAN):c.*160A>GSNV Uncertain significance 354471 rs886060828 5:82876413-82876413 5:83580594-83580594
38 VCAN NM_004385.5(VCAN):c.*813_*816dupduplication Uncertain significance 354477 rs140261411 5:82877065-82877066 5:83581246-83581247
39 VCAN NM_004385.5(VCAN):c.*1671C>TSNV Uncertain significance 354499 rs776524825 5:82877924-82877924 5:83582105-83582105
40 VCAN NM_004385.5(VCAN):c.*1408G>ASNV Uncertain significance 354491 rs886060837 5:82877661-82877661 5:83581842-83581842
41 VCAN NM_004385.5(VCAN):c.*2C>TSNV Uncertain significance 354468 rs370984795 5:82876255-82876255 5:83580436-83580436
42 VCAN NM_004385.5(VCAN):c.*446T>CSNV Uncertain significance 354474 rs886060829 5:82876699-82876699 5:83580880-83580880
43 VCAN NM_004385.5(VCAN):c.*881_*883deldeletion Uncertain significance 354480 rs886060831 5:82877134-82877136 5:83581315-83581317
44 VCAN NM_004385.5(VCAN):c.*905A>GSNV Uncertain significance 354484 rs796702160 5:82877158-82877158 5:83581339-83581339
45 VCAN NM_004385.5(VCAN):c.*909deldeletion Uncertain significance 354485 rs886060835 5:82877162-82877162 5:83581343-83581343
46 VCAN NM_004385.5(VCAN):c.5836C>T (p.His1946Tyr)SNV Uncertain significance 354431 rs886060825 5:82834658-82834658 5:83538839-83538839
47 VCAN NM_004385.5(VCAN):c.3264A>G (p.Pro1088=)SNV Uncertain significance 354417 rs767745674 5:82817389-82817389 5:83521570-83521570
48 VCAN NM_004385.5(VCAN):c.-259C>TSNV Uncertain significance 354383 rs886060813 5:82767590-82767590 5:83471771-83471771
49 VCAN NM_004385.5(VCAN):c.*883_*885deldeletion Uncertain significance 354481 rs886060832 5:82877136-82877138 5:83581317-83581319
50 VCAN NM_004385.5(VCAN):c.*898_*905delinsGindel Uncertain significance 354482 rs886060833 5:82877151-82877158 5:83581332-83581339

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:

36
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 VCAN COL2A1
2 11.23 VCAN COL2A1
3 10.93 VCAN COL2A1
4 10.41 VCAN COL2A1
5 10.22 VCAN COL2A1

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 collagen-containing extracellular matrix GO:0062023 9.16 COL2A1 VCAN
2 endoplasmic reticulum lumen GO:0005788 8.96 VCAN COL2A1
3 extracellular matrix GO:0031012 8.62 VCAN COL2A1

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 VCAN COL2A1
2 skeletal system development GO:0001501 8.96 VCAN COL2A1
3 central nervous system development GO:0007417 8.62 VCAN COL2A1

Sources for Wagner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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