ERVR
MCID: WGN003
MIFTS: 38

Wagner Syndrome (ERVR)

Categories: Blood diseases, Eye diseases, Rare diseases

Aliases & Classifications for Wagner Syndrome

MalaCards integrated aliases for Wagner Syndrome:

Name: Wagner Syndrome 53 25 37 29 6
Hyaloideoretinal Degeneration of Wagner 53 25 72
Wagner Vitreoretinal Degeneration 53 25
Vcan-Related Vitreoretinopathy 25
Erosive Vitreoretinopathy 53
Wagner Vitreoretinopathy 25
Wagner Syndrome Type 1 53
Wagner Disease 25
Ervr 53
Wgn1 53

Classifications:



External Ids:

KEGG 37 H02073
UMLS 72 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 vitreous syneresis and wagner 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. The drugs Peginterferon alfa-2b and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone.

NIH Rare Diseases : 53 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 : 37
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 31)
# 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, Experimental, Investigational Phase 4 13422-55-4
3
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
8
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
9
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
10
Cobalamin Experimental Phase 4 13408-78-1 6857388
11 interferons Phase 4
12 Interferon-alpha Phase 4
13 Interferon alpha-2 Phase 4
14 Immunologic Factors Phase 4
15 Trace Elements Phase 4
16 Micronutrients Phase 4
17 Hormones Phase 4
18 Vitamin D2 Phase 4
19 Vitamins Phase 4
20 Hematinics Phase 4
21 Ergocalciferols Phase 4
22 Vitamin B 12 Phase 4
23 Vitamin B9 Phase 4
24 Nutrients Phase 4
25 Folate Phase 4
26 Vitamin B Complex Phase 4
27 Vitamin B12 Phase 4
28 Calciferol Phase 4
29 Calcium, Dietary Phase 4
30 Bone Density Conservation Agents Phase 4
31
Sofosbuvir Approved Phase 2 1190307-88-0 45375808

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:

41
Eye, Retina, Bone

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. 38
30055036 2018
2
WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family. 38
29071374 2018
3
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. 38
30740127 2018
4
Multimodal Imaging in Wagner Syndrome. 38
27327288 2016
5
Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment. 38
26757352 2016
6
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes. 38
26284746 2015
7
Congenital glaucoma in Wagner syndrome. 38
24767812 2014
8
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 38
23986190 2013
9
De novo splice mutation in the versican gene in a family with Wagner syndrome. 38
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. 38
23462753 2013
11
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 38
22739342 2013
12
A family with Wagner syndrome with uveitis and a new versican mutation. 38
24174867 2013
13
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. 38
23592912 2013
14
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 38
21738396 2011
15
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 38
19901218 2009
16
VCAN-Related Vitreoretinopathy 38
20301747 2009
17
Clinical features of the congenital vitreoretinopathies. 38
18309337 2008
18
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. 38
18950500 2008
19
Clinical characterisation and molecular analysis of Wagner syndrome. 38
17035272 2007
20
Identification of the genetic defect in the original Wagner syndrome family. 38
16636652 2006
21
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 38
16043844 2005
22
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. 38
12912687 2003
23
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. 38
12686304 2003
24
[Increased lens opacity, retinal pigment epithelium degeneration and spontaneous retinal detachment in a family. Wagner syndrome]. 38
12227281 2002
25
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. 38
11450497 2001
26
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. 38
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. 38
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) 38
8317498 1993
29
The Wagner syndrome versus hereditary arthroophthalmopathy. 38
7182967 1982

Variations for Wagner Syndrome

ClinVar genetic disease variations for Wagner Syndrome:

6 (show top 50) (show all 164)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VCAN NM_004385.5(VCAN): c.9265+2T> A single nucleotide variant Pathogenic rs397515437 5:82838089-82838089 5:83542270-83542270
2 VCAN NM_004385.5(VCAN): c.4004-1G> C single nucleotide variant Pathogenic rs80356554 5:82832825-82832825 5:83537006-83537006
3 VCAN NM_004385.5(VCAN): c.4004-2A> T single nucleotide variant Pathogenic rs80356555 5:82832824-82832824 5:83537005-83537005
4 VCAN NM_004385.5(VCAN): c.4004-6T> A single nucleotide variant Pathogenic rs864309744 5:82832820-82832820 5:83537001-83537001
5 VCAN NM_004385.5(VCAN): c.4004-1G> T single nucleotide variant Pathogenic rs80356554 5:82832825-82832825 5:83537006-83537006
6 VCAN NM_004385.5(VCAN): c.9265+1G> T single nucleotide variant Pathogenic rs80356553 5:82838088-82838088 5:83542269-83542269
7 VCAN NM_004385.5(VCAN): c.9265+1G> A single nucleotide variant Pathogenic rs80356553 5:82838088-82838088 5:83542269-83542269
8 VCAN NM_004385.5(VCAN): c.4004-5T> C single nucleotide variant Pathogenic rs80356556 5:82832821-82832821 5:83537002-83537002
9 VCAN NM_004385.5(VCAN): c.4004-5T> A single nucleotide variant Pathogenic rs80356556 5:82832821-82832821 5:83537002-83537002
10 VCAN NM_004385.5(VCAN): c.4004-1G> A single nucleotide variant Pathogenic rs80356554 5:82832825-82832825 5:83537006-83537006
11 VCAN NM_004385.5(VCAN): c.4004-2A> G single nucleotide variant Pathogenic rs80356555 5:82832824-82832824 5:83537005-83537005
12 VCAN NM_004385.5(VCAN): c.6767T> C (p.Leu2256Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs146630369 5:82835589-82835589 5:83539770-83539770
13 VCAN NM_004385.5(VCAN): c.5859G> T (p.Thr1953=) single nucleotide variant Conflicting interpretations of pathogenicity rs80028865 5:82834681-82834681 5:83538862-83538862
14 VCAN NM_004385.5(VCAN): c.6902T> G (p.Phe2301Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs160278 5:82835724-82835724 5:83539905-83539905
15 VCAN NM_004385.5(VCAN): c.4248C> T (p.Leu1416=) single nucleotide variant Uncertain significance rs758617685 5:82833070-82833070 5:83537251-83537251
16 VCAN NM_004385.5(VCAN): c.4236T> C (p.Asn1412=) single nucleotide variant Uncertain significance rs752922531 5:82833058-82833058 5:83537239-83537239
17 VCAN NM_004385.5(VCAN): c.3956A> G (p.His1319Arg) single nucleotide variant Uncertain significance rs886060822 5:82818081-82818081 5:83522262-83522262
18 VCAN NM_004385.5(VCAN): c.3067A> G (p.Thr1023Ala) single nucleotide variant Uncertain significance rs886060820 5:82817192-82817192 5:83521373-83521373
19 VCAN NM_004385.5(VCAN): c.2937C> T (p.Pro979=) single nucleotide variant Uncertain significance rs886060819 5:82817062-82817062 5:83521243-83521243
20 VCAN NM_004385.5(VCAN): c.930G> A (p.Val310=) single nucleotide variant Uncertain significance rs886060818 5:82808103-82808103 5:83512284-83512284
21 VCAN NM_004385.5(VCAN): c.-75A> G single nucleotide variant Uncertain significance rs886060816 5:82767774-82767774 5:83471955-83471955
22 VCAN NM_004385.5(VCAN): c.-135G> A single nucleotide variant Uncertain significance rs886060814 5:82767714-82767714 5:83471895-83471895
23 VCAN NM_004385.5(VCAN): c.*2C> T single nucleotide variant Uncertain significance rs370984795 5:82876255-82876255 5:83580436-83580436
24 VCAN NM_004385.5(VCAN): c.*446T> C single nucleotide variant Uncertain significance rs886060829 5:82876699-82876699 5:83580880-83580880
25 VCAN NM_004385.5(VCAN): c.5836C> T (p.His1946Tyr) single nucleotide variant Uncertain significance rs886060825 5:82834658-82834658 5:83538839-83538839
26 VCAN NM_004385.5(VCAN): c.3264A> G (p.Pro1088=) single nucleotide variant Uncertain significance rs767745674 5:82817389-82817389 5:83521570-83521570
27 VCAN NM_004385.5(VCAN): c.3204C> T (p.Gly1068=) single nucleotide variant Uncertain significance rs142805131 5:82817329-82817329 5:83521510-83521510
28 VCAN NM_004385.5(VCAN): c.297G> C (p.Gly99=) single nucleotide variant Uncertain significance rs886060817 5:82786143-82786143 5:83490324-83490324
29 VCAN NM_004385.5(VCAN): c.-89T> C single nucleotide variant Uncertain significance rs886060815 5:82767760-82767760 5:83471941-83471941
30 VCAN NM_001164097.1(VCAN): c.-334C> T single nucleotide variant Uncertain significance rs886060812 5:82767515-82767515 5:83471696-83471696
31 VCAN NM_004385.5(VCAN): c.*898_*905delinsG indel Uncertain significance rs886060833 5:82877151-82877158 5:83581332-83581339
32 VCAN NM_004385.5(VCAN): c.*883_*885del deletion Uncertain significance rs886060832 5:82877136-82877138 5:83581317-83581319
33 VCAN NM_004385.5(VCAN): c.8454G> A (p.Ala2818=) single nucleotide variant Uncertain significance rs773474075 5:82837276-82837276 5:83541457-83541457
34 VCAN NM_004385.5(VCAN): c.8063C> T (p.Pro2688Leu) single nucleotide variant Uncertain significance rs755806449 5:82836885-82836885 5:83541066-83541066
35 VCAN NM_004385.5(VCAN): c.7895C> T (p.Thr2632Ile) single nucleotide variant Uncertain significance rs767660495 5:82836717-82836717 5:83540898-83540898
36 VCAN NM_004385.5(VCAN): c.-259C> T single nucleotide variant Uncertain significance rs886060813 5:82767590-82767590 5:83471771-83471771
37 VCAN NM_004385.5(VCAN): c.5482C> T (p.Pro1828Ser) single nucleotide variant Uncertain significance rs886060823 5:82834304-82834304 5:83538485-83538485
38 VCAN NM_004385.5(VCAN): c.8058A> C (p.Leu2686Phe) single nucleotide variant Uncertain significance rs780717994 5:82836880-82836880 5:83541061-83541061
39 VCAN NM_004385.5(VCAN): c.8064C> T (p.Pro2688=) single nucleotide variant Uncertain significance rs886060827 5:82836886-82836886 5:83541067-83541067
40 VCAN NM_004385.5(VCAN): c.5801T> G (p.Phe1934Cys) single nucleotide variant Uncertain significance rs886060824 5:82834623-82834623 5:83538804-83538804
41 VCAN NM_004385.5(VCAN): c.*905_*912del deletion Uncertain significance rs886060834 5:82877158-82877165 5:83581339-83581346
42 VCAN NM_004385.5(VCAN): c.*1031T> C single nucleotide variant Uncertain significance rs548595991 5:82877284-82877284 5:83581465-83581465
43 VCAN NM_004385.5(VCAN): c.*1091C> T single nucleotide variant Uncertain significance rs886060836 5:82877344-82877344 5:83581525-83581525
44 VCAN NM_004385.5(VCAN): c.7035G> A (p.Thr2345=) single nucleotide variant Uncertain significance rs200757689 5:82835857-82835857 5:83540038-83540038
45 VCAN NM_004385.5(VCAN): c.109T> G (p.Ser37Ala) single nucleotide variant Uncertain significance rs142740596 5:82785955-82785955 5:83490136-83490136
46 VCAN NM_004385.5(VCAN): c.3103T> G (p.Phe1035Val) single nucleotide variant Uncertain significance rs886060821 5:82817228-82817228 5:83521409-83521409
47 VCAN NM_004385.5(VCAN): c.5427C> T (p.His1809=) single nucleotide variant Uncertain significance rs779803420 5:82834249-82834249 5:83538430-83538430
48 VCAN NM_004385.5(VCAN): c.6201A> G (p.Glu2067=) single nucleotide variant Uncertain significance rs780184359 5:82835023-82835023 5:83539204-83539204
49 VCAN NM_004385.5(VCAN): c.*1671C> T single nucleotide variant Uncertain significance rs776524825 5:82877924-82877924 5:83582105-83582105
50 VCAN NM_004385.5(VCAN): c.9481C> G (p.Leu3161Val) single nucleotide variant Uncertain significance rs765359111 5:82843891-82843891 5:83548072-83548072

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:

37
# 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 VCAN COL2A1
2 endoplasmic reticulum lumen GO:0005788 8.96 VCAN COL2A1
3 collagen-containing extracellular matrix GO:0062023 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 8.96 VCAN COL2A1
2 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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