MCID: VTR001
MIFTS: 20

Vitreoretinal Dystrophy malady

Eye diseases category

Summaries for Vitreoretinal Dystrophy

About this section


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

About this section

Vitreoretinal Dystrophy, Aliases & Descriptions:

Name: Vitreoretinal Dystrophy 9 11 61
 
Vitreoretinal Dystrophies 9 61


Classifications:

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


External Ids:

Disease Ontology9 DOID:14251
SNOMED-CT56 79556007
ICD9CM28 362.73

Related Diseases for Vitreoretinal Dystrophy

About this section

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

About this section

Drugs & Therapeutics for Vitreoretinal Dystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Dystrophy

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

About this section

Anatomical Context for Vitreoretinal Dystrophy

About this section

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

32
Eye

Animal Models for Vitreoretinal Dystrophy or affiliated genes

About this section

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

About this section

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

About this section

Expression for genes affiliated with Vitreoretinal Dystrophy

About this section
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

About this section

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

About this section

GO Terms for genes affiliated with Vitreoretinal Dystrophy

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Vitreoretinal Dystrophy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet