MCID: VTR001
MIFTS: 20

Vitreoretinal Dystrophy malady

Eye diseases category

Summaries for Vitreoretinal Dystrophy

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34MalaCards
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MalaCards: 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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Sources:
9Disease Ontology, 11DISEASES, 63UMLS, 59SNOMED-CT, 28ICD9CM
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Classifications:

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


Aliases & Descriptions:

vitreoretinal dystrophy 9 11 63
vitreoretinal dystrophies 9


External Ids:

Disease Ontology9 DOID:14251
SNOMED-CT59 79556007
ICD9CM28 362.73

Related Diseases for Vitreoretinal Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Vitreoretinal Dystrophy

Search CenterWatch for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

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Anatomical Context for Vitreoretinal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Vitreoretinal Dystrophy:

34
Eye

Animal Models for Vitreoretinal Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

38
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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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vitreoretinal Dystrophy

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Pathways for genes affiliated with Vitreoretinal Dystrophy

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51PathCards, 56Reactome
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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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17Gene Ontology
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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
  • Antibodies

Sources for Vitreoretinal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet