MCID: VTR001
MIFTS: 20

Vitreoretinal Dystrophy malady

Eye diseases category
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Summaries for Vitreoretinal Dystrophy

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MalaCards based summary: Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to neuropathy and peripheral neuropathy. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (fibulin 1), and among its related pathways is Degradation of the extracellular matrix. Affiliated tissues include eye, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Aliases & Classifications for Vitreoretinal Dystrophy

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Vitreoretinal Dystrophy, Aliases & Descriptions:

Name: Vitreoretinal Dystrophy 8 10 62
 
Vitreoretinal Dystrophies 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:14251
SNOMED-CT57 79556007
ICD9CM27 362.73

Related Diseases for Vitreoretinal Dystrophy

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

idRelated DiseaseScoreTop Affiliating Genes
1neuropathy10.1
2peripheral neuropathy10.1

Symptoms for Vitreoretinal Dystrophy

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Drugs & Therapeutics for Vitreoretinal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Dystrophy

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

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Anatomical Context for Vitreoretinal Dystrophy

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MalaCards organs/tissues related to Vitreoretinal Dystrophy:

32
Eye

Animal Models for Vitreoretinal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0COL11A1, FBLN1
2MP:00053778.9COL11A1, FBLN1
3MP:00053718.7COL11A1, FBLN1

Publications for Vitreoretinal Dystrophy

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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

Variations for Vitreoretinal Dystrophy

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Expression for genes affiliated with Vitreoretinal Dystrophy

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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

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Pathways related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0COL11A1, FBLN1

Compounds for genes affiliated with Vitreoretinal Dystrophy

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GO Terms for genes affiliated with Vitreoretinal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1viral processGO:0160329.3SKP1, FBLN1
2extracellular matrix organizationGO:0301988.7COL11A1, FBLN1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.0COL11A1, FBLN1

Products for genes affiliated with Vitreoretinal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Vitreoretinal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet