MCID: VTR001
MIFTS: 19

Vitreoretinal Dystrophy malady

Summaries for Vitreoretinal Dystrophy

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to marshall syndrome and sensorineural hearing loss. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (fibulin 1), and among its related pathways are Amoebiasis and Focal Adhesion. Related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Aliases & Classifications for Vitreoretinal Dystrophy

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 57SNOMED-CT, 27ICD9CM
See all sources

Aliases & Descriptions:

vitreoretinal dystrophy 8 10 61
vitreoretinal dystrophies 8


External Ids:

Disease Ontology8 DOID:14251
SNOMED-CT57 79556007
ICD9CM27 362.73

Related Diseases for Vitreoretinal Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1marshall syndrome10.0COL11A1
2sensorineural hearing loss10.0COL11A1
3short stature10.0COL2A1
4retinoschisis10.0SKP1
5vitreous syneresis10.0COL11A1, COL2A1
6stickler syndrome10.0COL11A1, COL2A1
7retinal detachment10.0COL2A1, COL11A1
8myopia 610.0COL11A1, COL2A1
9cleft palate10.0COL11A1, COL2A1

Graphical network of diseases related to Vitreoretinal Dystrophy:



Diseases related to vitreoretinal dystrophy

Clinical Features for Vitreoretinal Dystrophy

Drugs & Therapeutics for Vitreoretinal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Vitreoretinal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Dystrophy

Search NIH Clinical Center for Vitreoretinal Dystrophy

Search CenterWatch for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

Animal Models for Vitreoretinal Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Vitreoretinal Dystrophy

Sources:
51PubMed
See all sources

Articles related to Vitreoretinal Dystrophy:

idTitleAuthorsYear
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

Genetic Variations for Vitreoretinal Dystrophy

Expression for genes affiliated with Vitreoretinal Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Vitreoretinal Dystrophy

Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

Pathways for genes affiliated with Vitreoretinal Dystrophy

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN
See all sources

Compounds for genes affiliated with Vitreoretinal Dystrophy

GO Terms for genes affiliated with Vitreoretinal Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.2FBLN1, COL2A1
2endoplasmic reticulum lumenGO:0057888.7COL2A1, COL11A1
3extracellular regionGO:0055768.5FBLN1, COL2A1, COL11A1

Biological processes related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.2COL2A1, COL11A1
2cartilage condensationGO:0015029.2COL2A1, COL11A1
3collagen fibril organizationGO:0301999.1COL2A1, COL11A1
4inner ear morphogenesisGO:0424729.1COL11A1, COL2A1
5collagen catabolic processGO:0305749.0COL2A1, COL11A1
6visual perceptionGO:0076019.0COL2A1, COL11A1
7extracellular matrix disassemblyGO:0226178.9COL2A1, COL11A1
8sensory perception of soundGO:0076058.7COL2A1, COL11A1
9extracellular matrix organizationGO:0301988.7COL11A1, COL2A1, FBLN1

Molecular functions related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.1FBLN1, COL11A1

Products for genes affiliated with Vitreoretinal Dystrophy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vitreoretinal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet