WGVRP
MCID: WGN007
MIFTS: 34

Wagner Vitreoretinopathy (WGVRP)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Wagner Vitreoretinopathy

MalaCards integrated aliases for Wagner Vitreoretinopathy:

Name: Wagner Vitreoretinopathy 57 73
Hyaloideoretinal Degeneration of Wagner 57 73 71
Wagner Vitreoretinal Degeneration 57 73 6
Wagner Syndrome 1 57 73 13
Erosive Vitreoretinopathy 57 73
Wgvrp 57 73
Ervr 57 73
Wgn1 57 73
Dominant Hyaloideoretinal Dystrophy of Wagner 58
Vitreoretinal Degeneration, Wagner Type 58
Erosive Vitreoretinopathy; Ervr 57
Vcan-Related Vitreoretinopathy 58
Vitreoretinopathy, Wagner 39
Wagner Syndrome 1; Wgn1 57
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®:

57 (Updated 05-Mar-2021)
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® 57 143200
MeSH 44 D012162
MESH via Orphanet 45 C536075
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0339540 C1840452
Orphanet 58 ORPHA898
UMLS 71 C1840452

Summaries for Wagner Vitreoretinopathy

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Wagner Vitreoretinopathy, also known as hyaloideoretinal degeneration of wagner, is related to wagner syndrome and vitreoretinopathy. An important gene associated with Wagner Vitreoretinopathy is VCAN (Versican). 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

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®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
cataract
glaucoma
vitreoretinal degeneration
chorioretinal atrophy
visual field defects (middle age)
more

Clinical features from OMIM®:

143200 (Updated 05-Mar-2021)

Drugs & Therapeutics for Wagner Vitreoretinopathy

Search Clinical Trials , 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 19)
# Title Authors PMID Year
1
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 57 6
22739342 2013
2
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 57 6
21738396 2011
3
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 57 6
16877430 2006
4
Identification of the genetic defect in the original Wagner syndrome family. 57 6
16636652 2006
5
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 57 6
16043844 2005
6
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. 6 57
10333105 1999
7
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. 6 57
2319589 1990
8
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 57
16752401 2006
9
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. 57
10571340 1999
10
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. 57
9098284 1995
11
Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. 57
7748141 1995
12
Erosive vitreoretinopathy. A new clinical entity. 57
8152765 1994
13
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) 57
8317498 1993
14
The Wagner-Stickler syndrome: a study of 22 families. 57
7264793 1981
15
Hereditary progressive arthro-ophthalmopathy of Stickler. 57
507166 1979
16
Wagner's hereditary vitreoretinal degeneration and retinal detachment. 57
4691317 1973
17
Degeneratio hyaloideo-retinalis herditaria. 57
14041873 1962
18
[On the clinical manifestation and pathology of degeneratio hyaloideoretinalis hereditaria (Wagner)]. 57
13802004 1960
19
Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy. 61
32623950 2020

Variations for Wagner Vitreoretinopathy

ClinVar genetic disease variations for Wagner Vitreoretinopathy:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VCAN-AS1 NM_004385.5(VCAN):c.4004-2A>G SNV Pathogenic 17494 rs80356555 5:82832824-82832824 5:83537005-83537005
2 VCAN-AS1 NM_004385.5(VCAN):c.4004-1G>A SNV Pathogenic 21405 rs80356554 5:82832825-82832825 5:83537006-83537006
3 VCAN-AS1 NM_004385.5(VCAN):c.4004-5T>A SNV Pathogenic 21406 rs80356556 5:82832821-82832821 5:83537002-83537002
4 VCAN-AS1 NM_004385.5(VCAN):c.4004-5T>C SNV Pathogenic 21407 rs80356556 5:82832821-82832821 5:83537002-83537002
5 VCAN-AS1 NM_004385.5(VCAN):c.9265+1G>A SNV Pathogenic 21408 rs80356553 5:82838088-82838088 5:83542269-83542269
6 VCAN-AS1 NM_004385.5(VCAN):c.4004-2A>T SNV Pathogenic 41877 rs80356555 5:82832824-82832824 5:83537005-83537005
7 VCAN-AS1 NM_004385.5(VCAN):c.9265+2T>A SNV Pathogenic 41878 rs397515437 5:82838089-82838089 5:83542270-83542270
8 VCAN-AS1 NM_004385.5(VCAN):c.4004-1G>C SNV Pathogenic 41879 rs80356554 5:82832825-82832825 5:83537006-83537006
9 VCAN-AS1 NM_004385.5(VCAN):c.4004-1G>T SNV Pathogenic 219011 rs80356554 5:82832825-82832825 5:83537006-83537006
10 VCAN-AS1 NM_004385.5(VCAN):c.4004-6T>A SNV Pathogenic 219012 rs864309744 5:82832820-82832820 5:83537001-83537001
11 VCAN-AS1 NM_004385.5(VCAN):c.4004-2A>C SNV Pathogenic 813123 5:82832824-82832824 5:83537005-83537005
12 VCAN-AS1 NM_004385.5(VCAN):c.9265+1G>T SNV Likely pathogenic 219010 rs80356553 5:82838088-82838088 5:83542269-83542269
13 VCAN-AS1 NM_004385.5(VCAN):c.6277G>C (p.Glu2093Gln) SNV Uncertain significance 930695 5:82835099-82835099 5:83539280-83539280
14 VCAN NM_004385.5(VCAN):c.9918G>C (p.Lys3306Asn) SNV Uncertain significance 931650 5:82875836-82875836 5:83580017-83580017
15 VCAN NM_004385.5(VCAN):c.*1091C>T SNV Uncertain significance 354489 rs886060836 5:82877344-82877344 5:83581525-83581525
16 VCAN NM_004385.5(VCAN):c.*1031T>C SNV Uncertain significance 354488 rs548595991 5:82877284-82877284 5:83581465-83581465
17 VCAN-AS1 NM_004385.5(VCAN):c.8064C>T (p.Pro2688=) SNV Uncertain significance 354454 rs886060827 5:82836886-82836886 5:83541067-83541067
18 VCAN-AS1 NM_004385.5(VCAN):c.6169A>C (p.Arg2057=) SNV Uncertain significance 354433 rs886060826 5:82834991-82834991 5:83539172-83539172
19 VCAN NM_004385.5(VCAN):c.*883_*885del Deletion Uncertain significance 354481 rs886060832 5:82877136-82877138 5:83581317-83581319
20 VCAN NM_004385.5(VCAN):c.3067A>G (p.Thr1023Ala) SNV Uncertain significance 354411 rs886060820 5:82817192-82817192 5:83521373-83521373
21 VCAN NM_004385.5(VCAN):c.*2C>T SNV Uncertain significance 354468 rs370984795 5:82876255-82876255 5:83580436-83580436
22 VCAN NM_004385.5(VCAN):c.-135G>A SNV Uncertain significance 354384 rs886060814 5:82767714-82767714 5:83471895-83471895
23 VCAN NM_004385.5(VCAN):c.930G>A (p.Val310=) SNV Uncertain significance 354394 rs886060818 5:82808103-82808103 5:83512284-83512284
24 VCAN-AS1 NM_004385.5(VCAN):c.9481C>G (p.Leu3161Val) SNV Uncertain significance 354466 rs765359111 5:82843891-82843891 5:83548072-83548072
25 VCAN NM_004385.5(VCAN):c.*905A>G SNV Uncertain significance 354484 rs796702160 5:82877158-82877158 5:83581339-83581339
26 VCAN NM_004385.5(VCAN):c.*905_*912del Deletion Uncertain significance 354483 rs886060834 5:82877155-82877162 5:83581336-83581343
27 VCAN-AS1 NM_004385.5(VCAN):c.5482C>T (p.Pro1828Ser) SNV Uncertain significance 354427 rs886060823 5:82834304-82834304 5:83538485-83538485
28 VCAN-AS1 NM_004385.5(VCAN):c.8454G>A (p.Ala2818=) SNV Uncertain significance 354459 rs773474075 5:82837276-82837276 5:83541457-83541457
29 VCAN NM_004385.5(VCAN):c.109T>G (p.Ser37Ala) SNV Uncertain significance 354388 rs142740596 5:82785955-82785955 5:83490136-83490136
30 VCAN-AS1 NM_004385.5(VCAN):c.6201A>G (p.Glu2067=) SNV Uncertain significance 354434 rs780184359 5:82835023-82835023 5:83539204-83539204
31 VCAN-AS1 NM_004385.5(VCAN):c.5836C>T (p.His1946Tyr) SNV Uncertain significance 354431 rs886060825 5:82834658-82834658 5:83538839-83538839
32 VCAN-AS1 NM_004385.5(VCAN):c.7895C>T (p.Thr2632Ile) SNV Uncertain significance 354450 rs767660495 5:82836717-82836717 5:83540898-83540898
33 VCAN-AS1 NM_004385.5(VCAN):c.5427C>T (p.His1809=) SNV Uncertain significance 354426 rs779803420 5:82834249-82834249 5:83538430-83538430
34 VCAN NM_004385.5(VCAN):c.*446T>C SNV Uncertain significance 354474 rs886060829 5:82876699-82876699 5:83580880-83580880
35 VCAN-AS1 NM_004385.5(VCAN):c.8058A>C (p.Leu2686Phe) SNV Uncertain significance 354452 rs780717994 5:82836880-82836880 5:83541061-83541061
36 VCAN NM_004385.5(VCAN):c.3204C>T (p.Gly1068=) SNV Uncertain significance 354416 rs142805131 5:82817329-82817329 5:83521510-83521510
37 VCAN-AS1 NM_004385.5(VCAN):c.8063C>T (p.Pro2688Leu) SNV Uncertain significance 354453 rs755806449 5:82836885-82836885 5:83541066-83541066
38 VCAN NM_004385.5(VCAN):c.-259C>T SNV Uncertain significance 354383 rs886060813 5:82767590-82767590 5:83471771-83471771
39 VCAN NM_004385.5(VCAN):c.3264A>G (p.Pro1088=) SNV Uncertain significance 354417 rs767745674 5:82817389-82817389 5:83521570-83521570
40 VCAN NM_001164097.1(VCAN):c.-334C>T SNV Uncertain significance 354382 rs886060812 5:82767515-82767515 5:83471696-83471696
41 VCAN-AS1 NM_004385.5(VCAN):c.4248C>T (p.Leu1416=) SNV Uncertain significance 354422 rs758617685 5:82833070-82833070 5:83537251-83537251
42 VCAN NM_004385.5(VCAN):c.297G>C (p.Gly99=) SNV Uncertain significance 354389 rs886060817 5:82786143-82786143 5:83490324-83490324
43 VCAN NM_004385.5(VCAN):c.*881_*883del Deletion Uncertain significance 354480 rs886060831 5:82877134-82877136 5:83581315-83581317
44 VCAN-AS1 NM_004385.5(VCAN):c.5801T>G (p.Phe1934Cys) SNV Uncertain significance 354430 rs886060824 5:82834623-82834623 5:83538804-83538804
45 VCAN NM_004385.5(VCAN):c.-89T>C SNV Uncertain significance 354386 rs886060815 5:82767760-82767760 5:83471941-83471941
46 VCAN NM_004385.5(VCAN):c.*813_*816dup Duplication Uncertain significance 354477 rs140261411 5:82877065-82877066 5:83581246-83581247
47 VCAN NM_004385.5(VCAN):c.*898_*905delinsG Indel Uncertain significance 354482 rs886060833 5:82877151-82877158 5:83581332-83581339
48 VCAN NM_004385.5(VCAN):c.3103T>G (p.Phe1035Val) SNV Uncertain significance 354413 rs886060821 5:82817228-82817228 5:83521409-83521409
49 VCAN NM_004385.5(VCAN):c.*909del Deletion Uncertain significance 354485 rs886060835 5:82877162-82877162 5:83581343-83581343
50 VCAN NM_004385.5(VCAN):c.*1671C>T SNV Uncertain significance 354499 rs776524825 5:82877924-82877924 5:83582105-83582105

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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