MCID: VTR001
MIFTS: 23

Vitreoretinal Dystrophy malady

Summaries for Vitreoretinal Dystrophy

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32MalaCards
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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 are Amoebiasis and Focal Adhesion. Related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Aliases & Classifications for Vitreoretinal Dystrophy

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

vitreoretinal dystrophy 8 10 60
vitreoretinal dystrophies 8


External Ids:

Disease Ontology8 DOID:14251
SNOMED-CT56 79556007
ICD9CM27 362.73

Related Diseases for Vitreoretinal Dystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Vitreoretinal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy10.1
2peripheral neuropathy10.1
3marshall syndrome10.0COL11A1
4sensorineural hearing loss10.0COL11A1
5short stature10.0COL2A1
6retinoschisis10.0SKP1
7vitreous syneresis10.0COL2A1, COL11A1
8stickler syndrome10.0COL2A1, COL11A1
9retinal detachment10.0COL2A1, COL11A1
10myopia 610.0COL2A1, COL11A1
11cleft palate10.0COL2A1, COL11A1

Graphical network of diseases related to Vitreoretinal Dystrophy:



Diseases related to vitreoretinal dystrophy

Clinical Features for Vitreoretinal Dystrophy

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Drugs & Therapeutics for Vitreoretinal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Dystrophy

Search NIH Clinical Center for Vitreoretinal Dystrophy

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Genetic Tests for Vitreoretinal Dystrophy

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Anatomical Context for Vitreoretinal Dystrophy

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Animal Models for Vitreoretinal Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6FBLN1, COL2A1, COL11A1
2MP:00053718.5FBLN1, COL2A1, COL11A1
3MP:00053908.5FBLN1, COL2A1, COL11A1
4MP:00053828.4COL11A1, COL2A1, FBLN1
5MP:00053888.2FBLN1, COL2A1, COL11A1

Publications for Vitreoretinal Dystrophy

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50PubMed
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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

Genetic Variations for Vitreoretinal Dystrophy

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Expression for genes affiliated with Vitreoretinal Dystrophy

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1BioGPS, 15Gene 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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29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Vitreoretinal Dystrophy

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GO Terms for genes affiliated with Vitreoretinal Dystrophy

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet