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

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

Sources:
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

UMLS⁶⁰ C0154863

Related Diseases for Vitreoretinal Dystrophy

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

(show all 11)

id	Related Disease	Score	Top Affiliating Genes
1	neuropathy	10.1
2	peripheral neuropathy	10.1
3	marshall syndrome	10.0	COL11A1
4	sensorineural hearing loss	10.0	COL11A1
5	short stature	10.0	COL2A1
6	retinoschisis	10.0	SKP1
7	vitreous syneresis	10.0	COL2A1, COL11A1
8	stickler syndrome	10.0	COL2A1, COL11A1
9	retinal detachment	10.0	COL2A1, COL11A1
10	myopia 6	10.0	COL2A1, COL11A1
11	cleft palate	10.0	COL2A1, COL11A1

Graphical network of diseases related to Vitreoretinal Dystrophy:

Clinical Features for Vitreoretinal Dystrophy

Drugs & Therapeutics for Vitreoretinal Dystrophy

Sources:
⁵CenterWatch, ⁴¹NIH 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

Anatomical Context for Vitreoretinal Dystrophy

Animal Models for Vitreoretinal Dystrophy or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

³⁶

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

Publications for Vitreoretinal Dystrophy

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⁵⁰PubMed
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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

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
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Genes related to Vitreoretinal Dystrophy:

id	Symbol	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
1	Novus Biologicals	3	3	4
2	LSBio	-	-	4

Genetic Variations for Vitreoretinal Dystrophy

Expression for genes affiliated with Vitreoretinal Dystrophy

Sources:
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

Sources:
²⁹KEGG, ³⁷NCBI BioSystems Database, ⁵³Reactome, ⁵¹QIAGEN
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Pathways related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Amoebiasis²⁹	9.0	COL11A1, COL2A1
2	Focal Adhesion³⁷ Hide members Focal adhesion²⁹	9.0	COL11A1, COL2A1
3	Protein digestion and absorption²⁹	9.0	COL11A1, COL2A1
4	Degradation of the extracellular matrix⁵³ Hide members Degradation of collagen⁵³	9.0	COL2A1, COL11A1
5	Non-integrin membrane-ECM interactions⁵³ Hide members ECM proteoglycans⁵³ ECM-receptor interaction²⁹ Integrin cell surface interactions⁵³	9.0	COL2A1, COL11A1
6	Collagen biosynthesis and modifying enzymes⁵³ Hide members Extracellular matrix organization⁵³ Blood Coagulation Cascade⁵¹ Intrinsic Prothrombin Activation Pathway⁵¹ Collagen formation⁵³ Assembly of collagen fibrils and other multimeric structures⁵³	8.5	FBLN1, COL11A1, COL2A1

Compounds for genes affiliated with Vitreoretinal Dystrophy

GO Terms for genes affiliated with Vitreoretinal Dystrophy

Sources:
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:

(show all 9)

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