MCID: VTR001
MIFTS: 29

Vitreoretinal Dystrophy malady

Categories: Eye diseases

Aliases & Classifications for Vitreoretinal Dystrophy

Aliases & Descriptions for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy 12 14 69
Vitreoretinal Dystrophies 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14251
ICD10 33 H35.51
ICD9CM 35 362.73
SNOMED-CT 64 79556007
UMLS 69 C0154863

Summaries for Vitreoretinal Dystrophy

MalaCards based summary : Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to upper respiratory tract disease and weaver johnson 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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Vitamin A and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

Related Diseases for Vitreoretinal Dystrophy

Diseases related to Vitreoretinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
id Related Disease Score Top Affiliating Genes
1 upper respiratory tract disease 10.2 KCNJ13 RS1
2 weaver johnson syndrome 10.1 COL2A1 VCAN
3 neonatal abstinence syndrome 10.1 COL2A1 KCNJ13
4 marshall syndrome 10.0 COL11A1 COL2A1
5 fibrochondrogenesis 1 10.0 COL11A1 COL2A1
6 deafness, autosomal dominant 13 10.0 COL11A1 COL2A1
7 laryngomalacia 10.0 COL11A1 COL2A1
8 toenail dystrophy, isolated 10.0 COL2A1 VCAN
9 epiphyseal dysplasia, multiple, with myopia and deafness 10.0 COL11A1 COL2A1
10 chronic diarrhea due to guanylate cyclase 2c overactivity 10.0 MMP8 VCAN
11 albright's hereditary osteodystrophy 10.0 COL11A1 COL2A1
12 epileptic encephalopathy, early infantile, 1 10.0 COL2A1 RS1
13 neuropathy, distal hereditary motor, type iia 9.9 COL11A1 COL2A1
14 chromosomal disease 9.9 BGLAP COL2A1
15 vulvovaginitis 9.9 BGLAP COL2A1
16 plantar nerve lesion 9.9 COL11A1 COL2A1 KCNJ13
17 moyamoya disease 9.9 COL11A1 COL2A1 KCNJ13
18 warm antibody hemolytic anemia 9.9 COL11A1 COL2A1 KCNJ13
19 charcot-marie-tooth disease type 5 9.9 COL11A1 COL2A1 VCAN
20 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.9 COL11A1 COL2A1 TBX22
21 pancreas adenocarcinoma 9.8 BGLAP COL2A1
22 anterograde amnesia 9.8 COL11A1 COL2A1 KCNJ13 RS1
23 smed strudwick type 9.8 ADAMTS18 COL11A1 COL2A1 RS1
24 ureter cancer 9.8 COL11A1 COL2A1 KCNJ13 VCAN
25 neuropathy 9.7
26 adult-onset still's disease 8.7 ADAMTS18 BGLAP COL11A1 COL2A1 FBLN1 KCNJ13

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.2 COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.2 COL11A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.2 BGLAP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.2 COL11A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.2 COL11A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.2 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.2 COL11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.2 ADAMTS18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.2 COL11A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.2 ADAMTS18 BGLAP COL11A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.2 BGLAP
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.2 BGLAP COL11A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.2 COL11A1 ADAMTS18
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.2 ADAMTS18
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.2 ADAMTS18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.2 ADAMTS18
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.2 ADAMTS18
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.2 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.03 COL11A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.03 COL11A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.03 FBLN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.03 COL11A1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.03 COL11A1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.03 ADAMTS18
25 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.03 FBLN1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.03 FBLN1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.03 COL11A1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.03 ADAMTS18
29 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.03 COL11A1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.03 ADAMTS18
31 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.03 COL11A1 ADAMTS18
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.03 ADAMTS18
33 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.03 FBLN1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.03 ADAMTS18 COL11A1 FBLN1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.03 COL11A1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.03 COL11A1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.03 COL11A1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.03 COL11A1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.03 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 COL11A1 COL2A1 FBLN1 KCNJ13 TBX22 VCAN
2 craniofacial MP:0005382 9.65 COL2A1 FBLN1 KCNJ13 TBX22 COL11A1
3 respiratory system MP:0005388 9.35 COL2A1 FBLN1 KCNJ13 TBX22 COL11A1
4 skeleton MP:0005390 9.17 COL2A1 FBLN1 KCNJ13 TBX22 VCAN ADAMTS18

Drugs & Therapeutics for Vitreoretinal Dystrophy

Drugs for Vitreoretinal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
2
acetic acid Approved, Nutraceutical Phase 2 64-19-7 176
3
Retinol acetate Phase 2 127-47-9 10245972
4 Vitamins Phase 2
5 Retinol palmitate Phase 2
6 retinol Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2
2 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
3 Molecular Genetics of Retinal Degenerations Completed NCT00231010
4 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
5 PIONEER: Intraoperative and Perioperative OCT Study Active, not recruiting NCT02423161
6 Repository for Inherited Eye Diseases Suspended NCT00378742

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

39
Eye

Publications for Vitreoretinal Dystrophy

Articles related to Vitreoretinal Dystrophy:

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 ADAMTS18 COL11A1 COL2A1 FBLN1 MMP8 VCAN
2 11.11 BGLAP COL2A1 VCAN
3 11.04 COL2A1 VCAN
4 10.75 FBLN1 VCAN

GO Terms for Vitreoretinal Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 ADAMTS18 BGLAP COL11A1 COL2A1 FBLN1 MMP8
2 extracellular space GO:0005615 9.7 BGLAP COL11A1 COL2A1 FBLN1 MMP8 RS1
3 endoplasmic reticulum lumen GO:0005788 9.62 BGLAP COL11A1 COL2A1 VCAN
4 proteinaceous extracellular matrix GO:0005578 9.43 ADAMTS18 COL11A1 COL2A1 FBLN1 MMP8 VCAN
5 extracellular matrix GO:0031012 9.1 ADAMTS18 COL11A1 COL2A1 FBLN1 MMP8 VCAN

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

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

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 BGLAP FBLN1 MMP8 VCAN
2 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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