MCID: VTR001
MIFTS: 27

Vitreoretinal Dystrophy

Categories: Eye diseases

Aliases & Classifications for Vitreoretinal Dystrophy

MalaCards integrated aliases for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy 12 15 73
Vitreoretinal Dystrophies 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14251
ICD10 33 H35.51
ICD9CM 35 362.73
SNOMED-CT 68 79556007
UMLS 73 C0154863

Summaries for Vitreoretinal Dystrophy

MalaCards based summary : Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to eye degenerative disease and wagner syndrome. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (Fibulin 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cell adhesion_ECM remodeling. Affiliated tissues include eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Vitreoretinal Dystrophy

Graphical network of the top 20 diseases related to Vitreoretinal Dystrophy:



Diseases related to Vitreoretinal Dystrophy

Symptoms & Phenotypes for Vitreoretinal Dystrophy

GenomeRNAi Phenotypes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

26 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.18 COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.18 BGLAP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.18 COL11A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.18 COL11A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.18 COL11A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.18 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.18 ADAMTS18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.18 COL11A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.18 ADAMTS18 BGLAP COL11A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.18 BGLAP
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.18 BGLAP COL11A1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.18 ADAMTS18 COL11A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.18 ADAMTS18
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.18 ADAMTS18
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.18 ADAMTS18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.18 ADAMTS18
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.18 COL11A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.05 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.05 COL11A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.05 COL11A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.05 FBLN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.05 COL11A1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.05 COL11A1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.05 ADAMTS18
25 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.05 FBLN1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.05 FBLN1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.05 COL11A1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.05 ADAMTS18
29 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.05 COL11A1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.05 ADAMTS18
31 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.05 COL11A1 ADAMTS18
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.05 ADAMTS18
33 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.05 FBLN1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.05 ADAMTS18 COL11A1 FBLN1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.05 COL11A1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.05 COL11A1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.05 COL11A1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.05 COL11A1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.05 COL11A1
40 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.02 COL11A1 COL2A1 BGLAP MMP8 RS1

MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 COL11A1 COL2A1 FBLN1 KCNJ13 TBX22
2 growth/size/body region MP:0005378 9.7 ADAMTS18 COL11A1 COL2A1 FBLN1 KCNJ13 TBX22
3 digestive/alimentary MP:0005381 9.65 ADAMTS18 COL11A1 COL2A1 KCNJ13 TBX22
4 respiratory system MP:0005388 9.43 COL11A1 COL2A1 FBLN1 KCNJ13 TBX22 ADAMTS18
5 skeleton MP:0005390 9.1 COL11A1 COL2A1 FBLN1 KCNJ13 TBX22 VCAN

Drugs & Therapeutics for Vitreoretinal Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetics of Retinal Degenerations Completed NCT00231010

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

41
Eye

Publications for Vitreoretinal Dystrophy

Articles related to Vitreoretinal Dystrophy:

# Title Authors Year
1
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. ( 12912687 )
2003
2
Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. ( 12912698 )
2003
3
Proton relaxation times of the vitreous body in hereditary vitreoretinal dystrophy. ( 7970545 )
1994
4
Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. ( 8082840 )
1994

Variations for Vitreoretinal Dystrophy

Expression for Vitreoretinal Dystrophy

Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

Pathways for Vitreoretinal Dystrophy

Pathways related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 ADAMTS18 COL11A1 COL2A1 FBLN1 MMP8 VCAN
2 10.94 COL2A1 VCAN
3 10.55 FBLN1 VCAN

GO Terms for Vitreoretinal Dystrophy

Cellular components related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 BGLAP COL11A1 COL2A1 FBLN1 MMP8 RS1
2 endoplasmic reticulum lumen GO:0005788 9.56 BGLAP COL11A1 COL2A1 VCAN
3 extracellular region GO:0005576 9.56 ADAMTS18 BGLAP COL11A1 COL2A1 FBLN1 MMP8
4 extracellular matrix GO:0031012 9.02 COL11A1 COL2A1 FBLN1 MMP8 VCAN

Biological processes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.61 COL11A1 COL2A1 RS1
2 cartilage development GO:0051216 9.54 COL11A1 COL2A1
3 inner ear morphogenesis GO:0042472 9.52 COL11A1 COL2A1
4 bone development GO:0060348 9.51 BGLAP COL2A1
5 skeletal system development GO:0001501 9.5 BGLAP COL2A1 VCAN
6 heart morphogenesis GO:0003007 9.49 COL11A1 COL2A1
7 collagen fibril organization GO:0030199 9.48 COL11A1 COL2A1
8 skeletal system morphogenesis GO:0048705 9.46 COL11A1 COL2A1
9 ossification GO:0001503 9.43 BGLAP COL11A1 COL2A1
10 endodermal cell differentiation GO:0035987 9.4 COL11A1 MMP8
11 cartilage condensation GO:0001502 9.37 COL11A1 COL2A1
12 proteoglycan metabolic process GO:0006029 9.16 COL11A1 COL2A1
13 collagen catabolic process GO:0030574 9.13 COL11A1 COL2A1 MMP8
14 extracellular matrix organization GO:0030198 8.92 COL11A1 COL2A1 FBLN1 VCAN

Molecular functions related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.92 COL11A1 COL2A1 FBLN1 VCAN

Sources for Vitreoretinal Dystrophy

3 CDC
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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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