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

Summaries for Vitreoretinal Dystrophy

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

Sources:
⁹Disease Ontology, ¹¹DISEASES, ⁶¹UMLS, ⁵⁶SNOMED-CT, ²⁸ICD9CM
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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

UMLS⁶¹ C0154863

Related Diseases for Vitreoretinal Dystrophy

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
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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	neuropathy	10.1
2	peripheral neuropathy	10.1

Symptoms for Vitreoretinal Dystrophy

Drugs & Therapeutics for Vitreoretinal Dystrophy

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Vitreoretinal Dystrophy

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

Sources:
³²MalaCards
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MalaCards organs/tissues related to Vitreoretinal Dystrophy:

³²

Eye

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	craniofacial phenotype	MP:0005382	9.0	COL11A1, FBLN1
2	hearing/vestibular/ear phenotype	MP:0005377	8.9	COL11A1, FBLN1
3	limbs/digits/tail phenotype	MP:0005371	8.7	COL11A1, FBLN1

Publications for Vitreoretinal Dystrophy

Sources:
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

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
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Genes related to Vitreoretinal Dystrophy:

- Elite gene

id	Symbol	Description	Score	Implication
1	FBLN1	fibulin 1	23.35	GeneCards inferred via : Publications, Disorders (show sections)
2	COL11A1	collagen, type XI, alpha 1	16.68	GeneCards inferred via : Disorders (show sections)
3	SKP1	S-phase kinase-associated protein 1	10.02	GeneCards inferred via : Disorders (show sections)

Products for genes related to Vitreoretinal Dystrophy disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	2	-	3	3
2	Novus Biologicals	2	2	3	-

Variations for Vitreoretinal Dystrophy

Expression for genes affiliated with Vitreoretinal Dystrophy

Sources:
²BioGPS, ¹⁶Gene 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:
⁴⁹PathCards, ⁵⁴Reactome
See all sources

Pathways related to Vitreoretinal Dystrophy according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix⁵⁴ Show member pathways Collagen degradation⁵⁴ Extracellular matrix organization⁵⁴	9.0	COL11A1, FBLN1

Compounds for genes affiliated with Vitreoretinal Dystrophy

GO Terms for genes affiliated with Vitreoretinal Dystrophy

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	viral process	GO:016032	9.3	SKP1, FBLN1
2	extracellular matrix organization	GO:030198	8.7	COL11A1, 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	9.0	COL11A1, FBLN1

Products for genes affiliated with Vitreoretinal Dystrophy

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Vitreoretinal Dystrophy

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: VTR001 MIFTS: 20	Vitreoretinal Dystrophy malady Eye diseases category
3 genes, 1 tissue, 2 related diseases, clinical trials Download this MalaCard Expand all tables

Vitreoretinal Dystrophy malady