MCID: WGN007
MIFTS: 24

Wagner Vitreoretinopathy

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Wagner Vitreoretinopathy

MalaCards integrated aliases for Wagner Vitreoretinopathy:

Name: Wagner Vitreoretinopathy 57 75
Hyaloideoretinal Degeneration of Wagner 57 75 73
Wagner Syndrome 1 57 75 13
Wagner Vitreoretinal Degeneration 57 75
Erosive Vitreoretinopathy 57 75
Wgvrp 57 75
Ervr 57 75
Wgn1 57 75
Dominant Hyaloideoretinal Dystrophy of Wagner 59
Vitreoretinal Degeneration, Wagner Type 59
Erosive Vitreoretinopathy; Ervr 57
Vcan-Related Vitreoretinopathy 59
Vitreoretinopathy, Wagner 40
Wagner Syndrome 1; Wgn1 57
Wagner Syndrome 59
Wagner Disease 59

Characteristics:

Orphanet epidemiological data:

59
wagner disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive clinical course with onset in childhood


HPO:

32
wagner vitreoretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 143200
Orphanet 59 ORPHA898
MESH via Orphanet 45 C536075
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C0339540 C1840452
MeSH 44 D012162
UMLS 73 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)

MalaCards based summary : Wagner Vitreoretinopathy, also known as hyaloideoretinal degeneration of wagner, is related to vcan-related vitreoretinopathy and wagner syndrome. An important gene associated with Wagner Vitreoretinopathy is VCAN (Versican). Affiliated tissues include eye and retina, and related phenotypes are glaucoma and cataract

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 vcan-related vitreoretinopathy 12.5
2 wagner syndrome 11.2

Symptoms & Phenotypes for Wagner Vitreoretinopathy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
glaucoma
loss of retinal pigment epithelium
vitreoretinal degeneration
chorioretinal atrophy
more

Clinical features from OMIM:

143200

Human phenotypes related to Wagner Vitreoretinopathy:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 cataract 32 HP:0000518
3 chorioretinal atrophy 32 HP:0000533
4 myopia 32 HP:0000545
5 visual loss 32 HP:0000572
6 optic atrophy 32 HP:0000648
7 vitreoretinal degeneration 32 HP:0000655
8 visual field defect 32 HP:0001123
9 peripheral tractional retinal detachment 32 HP:0007643
10 retinal pigment epithelial atrophy 32 HP:0007722
11 exudative vitreoretinopathy 32 occasional (7.5%) HP:0030490
12 optically empty vitreous 32 HP:0030663

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:

41
Eye, Retina

Publications for Wagner Vitreoretinopathy

Articles related to Wagner Vitreoretinopathy:

# Title Authors Year
1
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. ( 10333105 )
1999
2
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. ( 9098284 )
1995

Variations for Wagner Vitreoretinopathy

ClinVar genetic disease variations for Wagner Vitreoretinopathy:

6
(show top 50) (show all 328)
# 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.4004-2A> G single nucleotide variant Pathogenic rs80356555 GRCh38 Chromosome 5, 83537005: 83537005
3 VCAN NM_004385.4(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
4 VCAN NM_004385.4(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 GRCh38 Chromosome 5, 83537006: 83537006
5 VCAN NM_004385.4(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
6 VCAN NM_004385.4(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 GRCh38 Chromosome 5, 83537002: 83537002
7 VCAN NM_004385.4(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 GRCh37 Chromosome 5, 82832821: 82832821
8 VCAN NM_004385.4(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 GRCh38 Chromosome 5, 83537002: 83537002
9 VCAN NM_004385.4(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 GRCh37 Chromosome 5, 82838088: 82838088
10 VCAN NM_004385.4(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 GRCh38 Chromosome 5, 83542269: 83542269
11 VCAN NM_004385.4(VCAN): c.9265+2T> A single nucleotide variant Pathogenic rs397515437 GRCh37 Chromosome 5, 82838089: 82838089
12 VCAN NM_004385.4(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 GRCh37 Chromosome 5, 82832824: 82832824
13 VCAN NM_004385.4(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 GRCh38 Chromosome 5, 83537005: 83537005
14 VCAN NM_004385.4(VCAN): c.9265+2T> A single nucleotide variant Pathogenic rs397515437 GRCh38 Chromosome 5, 83542270: 83542270
15 VCAN NM_004385.4(VCAN): c.4004-1G> C single nucleotide variant Pathogenic rs80356554 GRCh37 Chromosome 5, 82832825: 82832825
16 VCAN NM_004385.4(VCAN): c.4004-1G> C single nucleotide variant Pathogenic rs80356554 GRCh38 Chromosome 5, 83537006: 83537006
17 VCAN NM_004385.4(VCAN): c.4547A> G (p.Lys1516Arg) single nucleotide variant Benign rs309559 GRCh37 Chromosome 5, 82833369: 82833369
18 VCAN NM_004385.4(VCAN): c.4547A> G (p.Lys1516Arg) single nucleotide variant Benign rs309559 GRCh38 Chromosome 5, 83537550: 83537550
19 VCAN NM_004385.4(VCAN): c.5477G> A (p.Arg1826His) single nucleotide variant Benign rs188703 GRCh37 Chromosome 5, 82834299: 82834299
20 VCAN NM_004385.4(VCAN): c.5477G> A (p.Arg1826His) single nucleotide variant Benign rs188703 GRCh38 Chromosome 5, 83538480: 83538480
21 VCAN NM_004385.4(VCAN): c.4604A> G (p.Glu1535Gly) single nucleotide variant Benign/Likely benign rs61749614 GRCh37 Chromosome 5, 82833426: 82833426
22 VCAN NM_004385.4(VCAN): c.4604A> G (p.Glu1535Gly) single nucleotide variant Benign/Likely benign rs61749614 GRCh38 Chromosome 5, 83537607: 83537607
23 VCAN NM_004385.4(VCAN): c.5187G> A (p.Glu1729=) single nucleotide variant Benign/Likely benign rs35648048 GRCh37 Chromosome 5, 82834009: 82834009
24 VCAN NM_004385.4(VCAN): c.5187G> A (p.Glu1729=) single nucleotide variant Benign/Likely benign rs35648048 GRCh38 Chromosome 5, 83538190: 83538190
25 VCAN NM_004385.4(VCAN): c.5808T> C (p.Gly1936=) single nucleotide variant Benign rs309557 GRCh37 Chromosome 5, 82834630: 82834630
26 VCAN NM_004385.4(VCAN): c.5808T> C (p.Gly1936=) single nucleotide variant Benign rs309557 GRCh38 Chromosome 5, 83538811: 83538811
27 VCAN NM_004385.4(VCAN): c.5859G> T (p.Thr1953=) single nucleotide variant Conflicting interpretations of pathogenicity rs80028865 GRCh37 Chromosome 5, 82834681: 82834681
28 VCAN NM_004385.4(VCAN): c.5859G> T (p.Thr1953=) single nucleotide variant Conflicting interpretations of pathogenicity rs80028865 GRCh38 Chromosome 5, 83538862: 83538862
29 VCAN NM_004385.4(VCAN): c.899C> T (p.Ser300Leu) single nucleotide variant Benign rs2652098 GRCh37 Chromosome 5, 82808072: 82808072
30 VCAN NM_004385.4(VCAN): c.899C> T (p.Ser300Leu) single nucleotide variant Benign rs2652098 GRCh38 Chromosome 5, 83512253: 83512253
31 VCAN NM_004385.4(VCAN): c.3713G> C (p.Arg1238Thr) single nucleotide variant Likely benign rs146560021 GRCh37 Chromosome 5, 82817838: 82817838
32 VCAN NM_004385.4(VCAN): c.3713G> C (p.Arg1238Thr) single nucleotide variant Likely benign rs146560021 GRCh38 Chromosome 5, 83522019: 83522019
33 VCAN NM_004385.4(VCAN): c.4546A> G (p.Lys1516Glu) single nucleotide variant Benign/Likely benign rs144610900 GRCh37 Chromosome 5, 82833368: 82833368
34 VCAN NM_004385.4(VCAN): c.4546A> G (p.Lys1516Glu) single nucleotide variant Benign/Likely benign rs144610900 GRCh38 Chromosome 5, 83537549: 83537549
35 VCAN NM_004385.4(VCAN): c.6767T> C (p.Leu2256Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146630369 GRCh37 Chromosome 5, 82835589: 82835589
36 VCAN NM_004385.4(VCAN): c.6767T> C (p.Leu2256Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146630369 GRCh38 Chromosome 5, 83539770: 83539770
37 VCAN NM_004385.4(VCAN): c.6723A> G (p.Arg2241=) single nucleotide variant Benign rs160279 GRCh37 Chromosome 5, 82835545: 82835545
38 VCAN NM_004385.4(VCAN): c.6723A> G (p.Arg2241=) single nucleotide variant Benign rs160279 GRCh38 Chromosome 5, 83539726: 83539726
39 VCAN NM_004385.4(VCAN): c.6902T> A (p.Phe2301Tyr) single nucleotide variant Benign rs160278 GRCh37 Chromosome 5, 82835724: 82835724
40 VCAN NM_004385.4(VCAN): c.6902T> A (p.Phe2301Tyr) single nucleotide variant Benign rs160278 GRCh38 Chromosome 5, 83539905: 83539905
41 VCAN NM_004385.4(VCAN): c.8622G> A (p.Ala2874=) single nucleotide variant Benign rs3096171 GRCh37 Chromosome 5, 82837444: 82837444
42 VCAN NM_004385.4(VCAN): c.8622G> A (p.Ala2874=) single nucleotide variant Benign rs3096171 GRCh38 Chromosome 5, 83541625: 83541625
43 VCAN NM_004385.4(VCAN): c.6902T> G (p.Phe2301Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs160278 GRCh37 Chromosome 5, 82835724: 82835724
44 VCAN NM_004385.4(VCAN): c.6902T> G (p.Phe2301Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs160278 GRCh38 Chromosome 5, 83539905: 83539905
45 VCAN NM_004385.4(VCAN): c.8809G> T (p.Asp2937Tyr) single nucleotide variant Benign rs160277 GRCh37 Chromosome 5, 82837631: 82837631
46 VCAN NM_004385.4(VCAN): c.8809G> T (p.Asp2937Tyr) single nucleotide variant Benign rs160277 GRCh38 Chromosome 5, 83541812: 83541812
47 VCAN NM_004385.4(VCAN): c.4323G> A (p.Gln1441=) single nucleotide variant Benign rs2548541 GRCh37 Chromosome 5, 82833145: 82833145
48 VCAN NM_004385.4(VCAN): c.4323G> A (p.Gln1441=) single nucleotide variant Benign rs2548541 GRCh38 Chromosome 5, 83537326: 83537326
49 VCAN NM_004385.4(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 GRCh37 Chromosome 5, 82832820: 82832820
50 VCAN NM_004385.4(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 GRCh38 Chromosome 5, 83537001: 83537001

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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