Vitreoretinal Dystrophy disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

MCID: VTR001 MIFTS: 19	Vitreoretinal Dystrophy malady
4 genes, 9 related diseases, clinical trials.

Summaries for Vitreoretinal Dystrophy

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³³MalaCards
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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 Amoebiasis and Focal Adhesion. Related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Aliases & Classifications for Vitreoretinal Dystrophy

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Sources:
⁸Disease Ontology, ¹⁰DISEASES, ⁶¹UMLS, ⁵⁷SNOMED-CT, ²⁷ICD9CM
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Aliases & Descriptions:

vitreoretinal dystrophy ⁸ ¹⁰ ⁶¹

vitreoretinal dystrophies ⁸

External Ids:

Disease Ontology⁸ DOID:14251

SNOMED-CT⁵⁷ 79556007

ICD9CM²⁷ 362.73

UMLS⁶¹ C0154863

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:

id	Related Disease	Score	Top Affiliating Genes
1	marshall syndrome	10.0	COL11A1
2	sensorineural hearing loss	10.0	COL11A1
3	short stature	10.0	COL2A1
4	retinoschisis	10.0	SKP1
5	vitreous syneresis	10.0	COL11A1, COL2A1
6	stickler syndrome	10.0	COL11A1, COL2A1
7	retinal detachment	10.0	COL2A1, COL11A1
8	myopia 6	10.0	COL11A1, COL2A1
9	cleft palate	10.0	COL11A1, COL2A1

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, ⁴²NIH 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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³⁷MGI, ²⁸inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

³⁷

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.6	COL11A1, COL2A1, FBLN1
2	limbs/digits/tail phenotype	MP:0005371	8.5	COL2A1, COL11A1, FBLN1
3	skeleton phenotype	MP:0005390	8.5	COL11A1, COL2A1, FBLN1
4	craniofacial phenotype	MP:0005382	8.4	FBLN1, COL11A1, COL2A1
5	respiratory system phenotype	MP:0005388	8.2	FBLN1, COL2A1, COL11A1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions.

Publications for Vitreoretinal Dystrophy

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⁵¹PubMed
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Articles related to Vitreoretinal Dystrophy:

id	Title	Authors	Year
1	Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. (12912687)	Sarra G.M.... Hergersberg M.	2003
2	Genomewide 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.	2003
3	Proton relaxation times of the vitreous body in hereditary vitreoretinal dystrophy. (7970545)	Ettl A.... Felber S.	1994
4	Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. (8082840)	Ettl A.... GAPttinger W.	1994

Genes related to Vitreoretinal Dystrophy

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¹⁷GeneCards, ⁴⁶Novus Biologicals, ³²LifeSpan BioSciences, Inc., ²⁸inGenious Targeting Laboratory
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Genes related to Vitreoretinal Dystrophy:

id	Symbol	Products	Description	Score	Implication
1	FBLN1		fibulin 1	22.51	GeneCards inferred : Publications, Disorders (show sections)
2	COL2A1		collagen, type II, alpha 1	17.51	GeneCards inferred : Disorders (show sections)
3	COL11A1		collagen, type XI, alpha 1	12.51	GeneCards inferred : Disorders (show sections)
4	SKP1		S-phase kinase-associated protein 1	7.51	GeneCards inferred : Disorders (show sections)

Products for genes related to Vitreoretinal Dystrophy disease:

id	Company	Proteins	Lysates	Antibodies	Knockout Mice
1	Novus Biologicals	3	3	4	-
2	LSBio	-	-	4	-
3	inGenious Targeting Laboratory	-	-	-

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

Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

Pathways for genes affiliated with Vitreoretinal Dystrophy

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Sources:
³⁰KEGG, ³⁸NCBI BioSystems Database, ⁵⁴Reactome, ⁵²QIAGEN
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Pathways related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Amoebiasis³⁰	9.0	COL11A1, COL2A1
2	Focal Adhesion³⁸ Hide members Focal adhesion³⁰	9.0	COL11A1, COL2A1
3	Protein digestion and absorption³⁰	9.0	COL11A1, COL2A1
4	Degradation of the extracellular matrix⁵⁴ Hide members Degradation of collagen⁵⁴	9.0	COL2A1, COL11A1
5	Non-integrin membrane-ECM interactions⁵⁴ Hide members ECM proteoglycans⁵⁴ ECM-receptor interaction³⁰ Integrin cell surface interactions⁵⁴	9.0	COL2A1, COL11A1
6	Collagen biosynthesis and modifying enzymes⁵⁴ Hide members Extracellular matrix organization⁵⁴ Blood Coagulation Cascade⁵² Intrinsic Prothrombin Activation Pathway⁵² Collagen formation⁵⁴ Assembly of collagen fibrils and other multimeric structures⁵⁴	8.5	FBLN1, COL11A1, COL2A1

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:

id	Name	GO ID	Score	Top Affiliating Genes
1	basement membrane	GO:005604	9.2	FBLN1, COL2A1
2	endoplasmic reticulum lumen	GO:005788	8.7	COL2A1, COL11A1
3	extracellular region	GO:005576	8.5	FBLN1, COL2A1, COL11A1

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

id	Name	GO ID	Score	Top Affiliating Genes
1	proteoglycan metabolic process	GO:006029	9.2	COL2A1, COL11A1
2	cartilage condensation	GO:001502	9.2	COL2A1, COL11A1
3	collagen fibril organization	GO:030199	9.1	COL2A1, COL11A1
4	inner ear morphogenesis	GO:042472	9.1	COL11A1, COL2A1
5	collagen catabolic process	GO:030574	9.0	COL2A1, COL11A1
6	visual perception	GO:007601	9.0	COL2A1, COL11A1
7	extracellular matrix disassembly	GO:022617	8.9	COL2A1, COL11A1
8	sensory perception of sound	GO:007605	8.7	COL2A1, COL11A1
9	extracellular matrix organization	GO:030198	8.7	COL11A1, COL2A1, FBLN1

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

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:005201	9.1	FBLN1, COL11A1

Products for genes affiliated with Vitreoretinal Dystrophy

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Antibodies
Proteins
Lysates

Antibodies

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions

Sources for Vitreoretinal Dystrophy

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¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸inGenious Targeting Laboratory

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery™

³²LifeSpan BioSciences, Inc.

³³MalaCards

³⁴MedlinePlus

³⁵MeSH

³⁶MESH via Orphanet

³⁷MGI

³⁸NCBI BioSystems Database

³⁹NCBI Bookshelf

⁴⁰NCIt

⁴¹NDF-RT

⁴²NIH Clinical Center

⁴³NIH Rare Diseases

⁴⁴NINDS

⁴⁵Novoseek

⁴⁶Novus Biologicals

⁴⁷OMIM

⁴⁸OMIM via Orphanet

⁴⁹Orphanet

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SABiosciences

⁵⁶SinoBiological

⁵⁷SNOMED-CT

⁵⁸SNOMED-CT via Orphanet

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

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Version 1.05.183 02 Mar 2014