MCID: VCN001
MIFTS: 20

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 25 6
Hyaloideoretinal Degeneration of Wagner 71

Characteristics:

GeneReviews:

25
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 syndrome and wagner vitreoretinopathy. An important gene associated with Vcan-Related Vitreoretinopathy is VCAN-AS1 (VCAN Antisense RNA 1). Affiliated tissues include smooth muscle and eye.

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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 wagner syndrome 31.5 VCAN-AS1 VCAN
2 wagner vitreoretinopathy 31.3 VCAN-AS1 VCAN
3 vitreoretinopathy 29.7 VCAN-AS1 VCAN
4 retinal detachment 10.2
5 yemenite deaf-blind hypopigmentation syndrome 10.2
6 myopia 10.2
7 uveitis 10.2
8 cataract 10.2
9 night blindness 10.2
10 refractive error 10.2
11 fundus dystrophy 9.5 VCAN-AS1 VCAN

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
Smooth Muscle, Eye

Publications for Vcan-Related Vitreoretinopathy

Articles related to Vcan-Related Vitreoretinopathy:

(show all 34)
# Title Authors PMID Year
1
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 25 6
22739342 2013
2
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 6 25
21738396 2011
3
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 25 6
16877430 2006
4
Identification of the genetic defect in the original Wagner syndrome family. 25 6
16636652 2006
5
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 6 25
16043844 2005
6
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. 6 25
10333105 1999
7
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. 6
2319589 1990
8
Congenital glaucoma in Wagner syndrome. 25
24767812 2014
9
Versican and the control of inflammation. 25
24513039 2014
10
De novo splice mutation in the versican gene in a family with Wagner syndrome. 25
23571384 2013
11
Roles of versican in cancer biology--tumorigenesis, progression and metastasis. 25
23519970 2013
12
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. 25
23462753 2013
13
A family with Wagner syndrome with uveitis and a new versican mutation. 25
24174867 2013
14
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 25
23055945 2012
15
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study. 25
21921957 2011
16
Segmental versican expression in the trabecular meshwork and involvement in outflow facility. 25
21596823 2011
17
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 25
19901218 2009
18
Central retinal artery occlusion following forehead injection with a corticosteroid suspension. 25
18789088 2008
19
Phenotypic variation in enhanced S-cone syndrome. 25
18436841 2008
20
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. 25
17546652 2007
21
Clinical characterisation and molecular analysis of Wagner syndrome. 25
17035272 2007
22
Extracellular matrix gene alternative splicing by trabecular meshwork cells in response to mechanical stretching. 25
17325160 2007
23
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC). 25
16678511 2006
24
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. 25
14695535 2004
25
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. 25
11812423 2002
26
Intercellular communication in the eye: clarifying the need for connexin diversity. 25
10751662 2000
27
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 25
10655056 2000
28
Versican/PG-M isoforms in vascular smooth muscle cells. 25
10397680 1999
29
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. 25
9098284 1995
30
Identification of the proteoglycan versican in aorta and smooth muscle cells by DNA sequence analysis, in situ hybridization and immunohistochemistry. 25
7921538 1994
31
Autosomal dominant neovascular inflammatory vitreoretinopathy. 25
2234842 1990
32
Degeneratio hyaloideo-retinalis herditaria. 25
14041873 1962
33
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
34
VCAN-Related Vitreoretinopathy 61
20301747 2009

Variations for Vcan-Related Vitreoretinopathy

ClinVar genetic disease variations for Vcan-Related 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.4004-1G>C SNV Pathogenic 41879 rs80356554 5:82832825-82832825 5:83537006-83537006
4 VCAN-AS1 NM_004385.5(VCAN):c.4004-1G>T SNV Pathogenic 219011 rs80356554 5:82832825-82832825 5:83537006-83537006
5 VCAN-AS1 NM_004385.5(VCAN):c.4004-6T>A SNV Pathogenic 219012 rs864309744 5:82832820-82832820 5:83537001-83537001
6 VCAN-AS1 NM_004385.5(VCAN):c.4004-2A>C SNV Pathogenic 813123 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.4004-2A>T SNV Pathogenic 41877 rs80356555 5:82832824-82832824 5:83537005-83537005
9 VCAN-AS1 NM_004385.5(VCAN):c.9265+1G>A SNV Pathogenic 21408 rs80356553 5:82838088-82838088 5:83542269-83542269
10 VCAN-AS1 NM_004385.5(VCAN):c.4004-5T>C SNV Pathogenic 21407 rs80356556 5:82832821-82832821 5:83537002-83537002
11 VCAN-AS1 NM_004385.5(VCAN):c.4004-5T>A SNV Pathogenic 21406 rs80356556 5:82832821-82832821 5:83537002-83537002
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.3067A>G (p.Thr1023Ala) SNV Uncertain significance 354411 rs886060820 5:82817192-82817192 5:83521373-83521373
17 VCAN NM_004385.5(VCAN):c.*1031T>C SNV Uncertain significance 354488 rs548595991 5:82877284-82877284 5:83581465-83581465
18 VCAN-AS1 NM_004385.5(VCAN):c.8064C>T (p.Pro2688=) SNV Uncertain significance 354454 rs886060827 5:82836886-82836886 5:83541067-83541067
19 VCAN-AS1 NM_004385.5(VCAN):c.6169A>C (p.Arg2057=) SNV Uncertain significance 354433 rs886060826 5:82834991-82834991 5:83539172-83539172
20 VCAN NM_004385.5(VCAN):c.*883_*885del Deletion Uncertain significance 354481 rs886060832 5:82877136-82877138 5:83581317-83581319
21 VCAN NM_004385.5(VCAN):c.-135G>A SNV Uncertain significance 354384 rs886060814 5:82767714-82767714 5:83471895-83471895
22 VCAN NM_004385.5(VCAN):c.930G>A (p.Val310=) SNV Uncertain significance 354394 rs886060818 5:82808103-82808103 5:83512284-83512284
23 VCAN NM_004385.5(VCAN):c.*2C>T SNV Uncertain significance 354468 rs370984795 5:82876255-82876255 5:83580436-83580436
24 VCAN NM_004385.5(VCAN):c.*905A>G SNV Uncertain significance 354484 rs796702160 5:82877158-82877158 5:83581339-83581339
25 VCAN-AS1 NM_004385.5(VCAN):c.9481C>G (p.Leu3161Val) SNV Uncertain significance 354466 rs765359111 5:82843891-82843891 5:83548072-83548072
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 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
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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