MCID: VTR001
MIFTS: 25

Vitreoretinal Dystrophy

Categories: Eye diseases

Aliases & Classifications for Vitreoretinal Dystrophy

MalaCards integrated aliases for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy 12 15 74
Vitreoretinal Dystrophies 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14251
ICD9CM 36 362.73
SNOMED-CT 69 79556007
ICD10 34 H35.51
UMLS 74 C0154863

Summaries for Vitreoretinal Dystrophy

MalaCards based summary : Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to peripheral nervous system disease and neuropathy. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (Fibulin 1), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include eye, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and nervous system

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 COL11A1 COL2A1 NR2E3 RS1

MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.63 COL11A1 COL2A1 FBLN1 INSC NR2E3 RS1
2 craniofacial MP:0005382 9.62 COL11A1 COL2A1 FBLN1 KCNJ13
3 hearing/vestibular/ear MP:0005377 9.56 COL11A1 COL2A1 FBLN1 INSC
4 respiratory system MP:0005388 9.26 COL11A1 COL2A1 FBLN1 KCNJ13
5 vision/eye MP:0005391 8.92 COL2A1 FBLN1 NR2E3 RS1

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:

42
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

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 basement membrane GO:0005604 9.26 COL2A1 FBLN1
2 collagen trimer GO:0005581 9.16 COL11A1 COL2A1
3 extracellular matrix GO:0031012 9.13 COL11A1 COL2A1 FBLN1
4 collagen-containing extracellular matrix GO:0062023 8.8 COL11A1 COL2A1 FBLN1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.49 COL11A1 COL2A1
2 ossification GO:0001503 9.48 COL11A1 COL2A1
3 cartilage development GO:0051216 9.46 COL11A1 COL2A1
4 inner ear morphogenesis GO:0042472 9.43 COL11A1 COL2A1
5 extracellular matrix organization GO:0030198 9.43 COL11A1 COL2A1 FBLN1
6 heart morphogenesis GO:0003007 9.4 COL11A1 COL2A1
7 collagen fibril organization GO:0030199 9.37 COL11A1 COL2A1
8 skeletal system morphogenesis GO:0048705 9.32 COL11A1 COL2A1
9 cartilage condensation GO:0001502 9.16 COL11A1 COL2A1
10 proteoglycan metabolic process GO:0006029 8.96 COL11A1 COL2A1
11 visual perception GO:0007601 8.92 COL11A1 COL2A1 NR2E3 RS1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A1 INSC
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL11A1 COL2A1
3 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL2A1 FBLN1

Sources for Vitreoretinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....