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MCID: VTR001

Vitreoretinal Dystrophy malady
4 genes, 8 related diseases, clinical trials.

Summaries for Vitreoretinal Dystrophy

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29MalaCards
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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 Notch signaling pathway and Amoebiasis. Related mouse phenotypes are hearing/vestibular/ear and respiratory system.

Aliases & Classifications for Vitreoretinal Dystrophy

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Sources:
8Disease Ontology, 10DISEASES, 56UMLS, 25ICD9CM, 52SNOMED-CT
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Aliases & Descriptions:

vitreoretinal dystrophy 8 10 56
vitreoretinal dystrophies 8



External Ids:

Disease Ontology8 DOID:14251
SNOMED-CT52 79556007
ICD9CM25 362.73

Related Diseases for Vitreoretinal Dystrophy

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16GeneCards, 17GeneDecks
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Diseases related to vitreoretinal dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1marshall syndrome13.1COL11A1
2sensorineural hearing loss12.9COL11A1
3retinoschisis12.8SKP1
4vitreous syneresis12.5COL11A1, COL2A1
5stickler syndrome12.5COL2A1, COL11A1
6retinal detachment12.3COL2A1, COL11A1
7cleft palate12.3COL2A1, COL11A1
8myopia 612.0COL11A1, COL2A1

Graphical network of diseases related to vitreoretinal dystrophy:



Diseases related to vitreoretinal dystrophy

Symptoms for Vitreoretinal Dystrophy

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Drugs & Therapeutics for Vitreoretinal Dystrophy

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Sources:
5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials
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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

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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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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to vitreoretinal dystrophy:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
hearing/vestibular/ear phenotype
MP:00053778.5COL2A1, COL11A1, FBLN1
2
respiratory system phenotype
MP:00053888.5COL2A1, COL11A1, FBLN1
3
limbs/digits/tail phenotype
MP:00053718.4COL2A1, COL11A1, FBLN1
4
craniofacial phenotype
MP:00053828.2FBLN1, COL11A1, COL2A1

Publications for Vitreoretinal Dystrophy

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47PubMed
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Articles related to vitreoretinal dystrophy:

idTitleAuthorsYearAffiliating Genes
1Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. (12912698)Weigell-Weber M.... Hergersberg M.2003FBLN1

Variations for Vitreoretinal Dystrophy

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Expression for genes affiliated with Vitreoretinal Dystrophy

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Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Vitreoretinal Dystrophy

Pathways for genes affiliated with Vitreoretinal Dystrophy

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Sources:
34NCBI BioSystems Database, 27KEGG, 50Reactome, 48QIAGEN
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Pathways related to vitreoretinal dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Notch signaling pathway34
Hide members
9.4SKP1, SKP1
2
Amoebiasis27
9.0COL2A1, COL11A1
3
ECM-receptor interaction27
Hide members
9.0COL2A1, COL11A1
4
Protein digestion and absorption27
9.0COL2A1, COL11A1
5
Degradation of the extracellular matrix50
Hide members
9.0COL11A1, COL2A1
6
Formation of collagen fibres50
Hide members
9.0COL2A1, COL11A1
7
Gelatin degradation by MMP1950
Hide members
9.0COL11A1, COL2A1
8
Blood Coagulation Cascade48
Hide members
9.0COL2A1, COL11A1
9
Collagen formation50
Hide members
8.5COL2A1, COL11A1, FBLN1

Compounds for genes affiliated with Vitreoretinal Dystrophy

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GO Terms for genes affiliated with Vitreoretinal Dystrophy

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Sources:
15Gene Ontology
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Cellular components related to vitreoretinal dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.0COL2A1, FBLN1
2endoplasmic reticulum lumenGO:0057889.0COL2A1, COL11A1

Biological processes related to vitreoretinal dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.2COL2A1, COL11A1
2cartilage condensationGO:0015029.1COL2A1, COL11A1
3collagen fibril organizationGO:0301999.0COL11A1, COL2A1
4visual perceptionGO:0076019.0COL2A1, COL11A1
5inner ear morphogenesisGO:0424728.9COL2A1, COL11A1
6sensory perception of soundGO:0076058.7COL2A1, COL11A1
7extracellular matrix organizationGO:0301988.6COL2A1, COL11A1, FBLN1

Molecular functions related to vitreoretinal dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.1COL11A1, 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
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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