WGVRP
MCID: WGN007
MIFTS: 38

Wagner Vitreoretinopathy (WGVRP)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Wagner Vitreoretinopathy

MalaCards integrated aliases for Wagner Vitreoretinopathy:

Name: Wagner Vitreoretinopathy 56 73
Hyaloideoretinal Degeneration of Wagner 56 73 71
Wagner Syndrome 1 56 73 13
Wagner Vitreoretinal Degeneration 56 73
Erosive Vitreoretinopathy 56 73
Wgvrp 56 73
Ervr 56 73
Wgn1 56 73
Dominant Hyaloideoretinal Dystrophy of Wagner 58
Vitreoretinal Degeneration, Wagner Type 58
Erosive Vitreoretinopathy; Ervr 56
Vcan-Related Vitreoretinopathy 58
Vitreoretinopathy, Wagner 39
Wagner Syndrome 1; Wgn1 56
Wagner Syndrome 58
Wagner Disease 58

Characteristics:

Orphanet epidemiological data:

58
wagner disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive clinical course with onset in childhood


HPO:

31
wagner vitreoretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM 56 143200
MeSH 43 D012162
MESH via Orphanet 44 C536075
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0339540 C1840452
Orphanet 58 ORPHA898
UMLS 71 C1840452

Summaries for Wagner Vitreoretinopathy

OMIM : 56 Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006). (143200)

MalaCards based summary : Wagner Vitreoretinopathy, also known as hyaloideoretinal degeneration of wagner, is related to stickler syndrome, type i, nonsyndromic ocular and wagner syndrome. An important gene associated with Wagner Vitreoretinopathy is VCAN (Versican). The drugs Peginterferon alfa-2b and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are exudative vitreoretinopathy and cataract

UniProtKB/Swiss-Prot : 73 Wagner vitreoretinopathy: A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia.

Related Diseases for Wagner Vitreoretinopathy

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome, type i, nonsyndromic ocular 11.5
2 wagner syndrome 11.5
3 cataract 10.4
4 uveitis 10.3
5 refractive error 10.3
6 vitreoretinopathy 10.3
7 retinal detachment 10.3
8 choroideremia 10.2
9 yemenite deaf-blind hypopigmentation syndrome 10.2
10 neovascular glaucoma 10.2
11 vitreous syneresis 10.2
12 enhanced s-cone syndrome 10.0
13 joint laxity, short stature, and myopia 10.0
14 stickler syndrome 10.0
15 myopia 10.0
16 night blindness 10.0
17 scotoma 10.0
18 vcan-related vitreoretinopathy 10.0
19 vitreoretinal degeneration 10.0
20 stickler syndrome, type i 9.9
21 retinitis pigmentosa 9.9
22 norrie disease 9.9
23 branchiootic syndrome 1 9.9
24 intraocular pressure quantitative trait locus 9.9
25 cone dystrophy 9.9
26 optic nerve disease 9.9
27 arthropathy 9.9
28 macular retinal edema 9.9
29 neuropathy 9.9
30 iridocyclitis 9.9

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



Diseases related to Wagner Vitreoretinopathy

Symptoms & Phenotypes for Wagner Vitreoretinopathy

Human phenotypes related to Wagner Vitreoretinopathy:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 exudative vitreoretinopathy 31 occasional (7.5%) HP:0030490
2 cataract 31 HP:0000518
3 optic atrophy 31 HP:0000648
4 myopia 31 HP:0000545
5 glaucoma 31 HP:0000501
6 visual loss 31 HP:0000572
7 visual field defect 31 HP:0001123
8 retinal pigment epithelial atrophy 31 HP:0007722
9 vitreoretinopathy 31 HP:0007773
10 chorioretinal atrophy 31 HP:0000533
11 peripheral tractional retinal detachment 31 HP:0007643
12 optically empty vitreous 31 HP:0030663

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
glaucoma
vitreoretinal degeneration
chorioretinal atrophy
visual field defects (middle age)
more

Clinical features from OMIM:

143200

Drugs & Therapeutics for Wagner Vitreoretinopathy

Drugs for Wagner Vitreoretinopathy (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 Vitreoretinopathy

Genetic Tests for Wagner Vitreoretinopathy

Anatomical Context for Wagner Vitreoretinopathy

MalaCards organs/tissues related to Wagner Vitreoretinopathy:

40
Eye, Retina

Publications for Wagner Vitreoretinopathy

Articles related to Wagner Vitreoretinopathy:

(show all 23)
# Title Authors PMID Year
1
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 61 56 6
16043844 2005
2
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 56 6
22739342 2013
3
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 56 6
21738396 2011
4
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 56 6
16877430 2006
5
Identification of the genetic defect in the original Wagner syndrome family. 56 6
16636652 2006
6
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. 56 6
10333105 1999
7
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. 56 6
2319589 1990
8
VCAN-Related Vitreoretinopathy 6
20301747 2009
9
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 56
16752401 2006
10
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. 56
10571340 1999
11
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. 56
9098284 1995
12
Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. 56
7748141 1995
13
Erosive vitreoretinopathy. A new clinical entity. 56
8152765 1994
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) 56
8317498 1993
15
The Wagner-Stickler syndrome: a study of 22 families. 56
7264793 1981
16
Hereditary progressive arthro-ophthalmopathy of Stickler. 56
507166 1979
17
Wagner's hereditary vitreoretinal degeneration and retinal detachment. 56
4691317 1973
18
Degeneratio hyaloideo-retinalis herditaria. 56
14041873 1962
19
[On the clinical manifestation and pathology of degeneratio hyaloideoretinalis hereditaria (Wagner)]. 56
13802004 1960
20
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
21
Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. 61
12724645 2003
22
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. 61
11450497 2001
23
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

Variations for Wagner Vitreoretinopathy

ClinVar genetic disease variations for Wagner Vitreoretinopathy:

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 Vitreoretinopathy

Search GEO for disease gene expression data for Wagner Vitreoretinopathy.

Pathways for Wagner Vitreoretinopathy

GO Terms for Wagner Vitreoretinopathy

Sources for Wagner Vitreoretinopathy

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
Content
Loading form....