MCID: VCN001
MIFTS: 12

Vcan-Related Vitreoretinopathy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Vcan-Related Vitreoretinopathy

MalaCards integrated aliases for Vcan-Related Vitreoretinopathy:

Name: Vcan-Related Vitreoretinopathy 24
Hyaloideoretinal Degeneration of Wagner 71

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete. within families reported to date, no unaffected individuals had a vcan pathogenic variant.

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 71 C1840452

Summaries for Vcan-Related Vitreoretinopathy

MalaCards based summary : Vcan-Related Vitreoretinopathy, also known as hyaloideoretinal degeneration of wagner, is related to wagner vitreoretinopathy and wagner syndrome. An important gene associated with Vcan-Related Vitreoretinopathy is VCAN (Versican). Affiliated tissues include eye and smooth muscle.

GeneReviews: NBK3821

Related Diseases for Vcan-Related Vitreoretinopathy

Diseases in the Vitreoretinopathy family:

Vcan-Related Vitreoretinopathy

Diseases related to Vcan-Related Vitreoretinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wagner vitreoretinopathy 12.0
2 wagner syndrome 12.0
3 retinal detachment 10.3
4 yemenite deaf-blind hypopigmentation syndrome 10.3
5 myopia 10.3
6 uveitis 10.3
7 cataract 10.3
8 night blindness 10.3
9 refractive error 10.3
10 vitreoretinopathy 10.3

Graphical network of the top 20 diseases related to Vcan-Related Vitreoretinopathy:



Diseases related to Vcan-Related Vitreoretinopathy

Symptoms & Phenotypes for Vcan-Related Vitreoretinopathy

Drugs & Therapeutics for Vcan-Related Vitreoretinopathy

Search Clinical Trials , NIH Clinical Center for Vcan-Related Vitreoretinopathy

Genetic Tests for Vcan-Related Vitreoretinopathy

Anatomical Context for Vcan-Related Vitreoretinopathy

MalaCards organs/tissues related to Vcan-Related Vitreoretinopathy:

40
Eye, Smooth Muscle

Publications for Vcan-Related Vitreoretinopathy

Articles related to Vcan-Related Vitreoretinopathy:

(show all 33)
# Title Authors PMID Year
1
Congenital glaucoma in Wagner syndrome. 24
24767812 2014
2
Versican and the control of inflammation. 24
24513039 2014
3
De novo splice mutation in the versican gene in a family with Wagner syndrome. 24
23571384 2013
4
Roles of versican in cancer biology--tumorigenesis, progression and metastasis. 24
23519970 2013
5
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. 24
23462753 2013
6
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 24
22739342 2013
7
A family with Wagner syndrome with uveitis and a new versican mutation. 24
24174867 2013
8
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 24
23055945 2012
9
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study. 24
21921957 2011
10
Segmental versican expression in the trabecular meshwork and involvement in outflow facility. 24
21596823 2011
11
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 24
21738396 2011
12
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 24
19901218 2009
13
Central retinal artery occlusion following forehead injection with a corticosteroid suspension. 24
18789088 2008
14
Phenotypic variation in enhanced S-cone syndrome. 24
18436841 2008
15
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. 24
17546652 2007
16
Clinical characterisation and molecular analysis of Wagner syndrome. 24
17035272 2007
17
Extracellular matrix gene alternative splicing by trabecular meshwork cells in response to mechanical stretching. 24
17325160 2007
18
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 24
16877430 2006
19
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC). 24
16678511 2006
20
Identification of the genetic defect in the original Wagner syndrome family. 24
16636652 2006
21
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 24
16043844 2005
22
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. 24
14695535 2004
23
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. 24
11812423 2002
24
Intercellular communication in the eye: clarifying the need for connexin diversity. 24
10751662 2000
25
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 24
10655056 2000
26
Versican/PG-M isoforms in vascular smooth muscle cells. 24
10397680 1999
27
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. 24
10333105 1999
28
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. 24
9098284 1995
29
Identification of the proteoglycan versican in aorta and smooth muscle cells by DNA sequence analysis, in situ hybridization and immunohistochemistry. 24
7921538 1994
30
Autosomal dominant neovascular inflammatory vitreoretinopathy. 24
2234842 1990
31
Degeneratio hyaloideo-retinalis herditaria. 24
14041873 1962
32
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
33
VCAN-Related Vitreoretinopathy 61
20301747 2009

Variations for Vcan-Related Vitreoretinopathy

Expression for Vcan-Related Vitreoretinopathy

Search GEO for disease gene expression data for Vcan-Related Vitreoretinopathy.

Pathways for Vcan-Related Vitreoretinopathy

GO Terms for Vcan-Related Vitreoretinopathy

Sources for Vcan-Related 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
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