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

Aliases & Classifications for Vitreoretinal Dystrophy

Sources:
¹⁰Disease Ontology, ¹²DISEASES, ⁶⁵UMLS, ²⁷ICD10, ²⁹ICD9CM, ⁵⁹SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy ¹⁰ ¹² ⁶⁵

Vitreoretinal Dystrophies ¹⁰

Classifications:

MalaCards categories:
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology¹⁰ DOID:14251

ICD10²⁷ H35.51

SNOMED-CT⁵⁹ 79556007

ICD9CM²⁹ 362.73

UMLS⁶⁵ C0154863

Summaries for Vitreoretinal Dystrophy

Sources:
³³MalaCards
See all MalaCards sources

MalaCards based summary: Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to choroidal sclerosis and ophthalmia nodosa. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (Fibulin 1), and among its related pathways are Cell adhesion_Cell-matrix glycoconjugates and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, thymus and heart, and related mouse phenotypes are respiratory system and limbs/digits/tail.

Related Diseases for Vitreoretinal Dystrophy

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

Diseases related to Vitreoretinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

id	Related Disease	Score	Top Affiliating Genes
1	choroidal sclerosis	10.1	COL2A1, KCNJ13
2	ophthalmia nodosa	10.1	KCNJ13, RS1
3	spondyloepiphyseal dysplasia tarda	10.0	COL2A1, RS1
4	walbaum titran durieux crepin syndrome	10.0	COL2A1, VCAN
5	3p- syndrome	9.9	COL11A1, KCNJ13
6	peripheral neuropathy	9.9
7	neuropathy	9.9
8	stickler syndrome, type ii	9.8	COL11A1, COL2A1
9	marshall syndrome	9.8	COL11A1, COL2A1
10	weissenbacher-zweymuller syndrome	9.7	COL11A1, COL2A1
11	macrogyria, pseudobulbar palsy and mental retardation	9.7	COL11A1, COL2A1
12	smed strudwick type	9.7	COL11A1, COL2A1
13	stickler syndrome	9.6	COL11A1, COL2A1
14	epidermolysis bullosa, pretibial	9.6	COL2A1, VCAN
15	cortical blindness	9.5	COL11A1, COL2A1
16	vitreoretinochoroidopathy dominant	9.4	COL11A1, COL2A1, KCNJ13
17	myasthenic syndrome, congenital, 2a, slow-channel	9.3	COL11A1, COL2A1, TBX22
18	darier disease	9.3	COL11A1, COL2A1
19	acromesomelic dysplasia	9.2	COL11A1, COL2A1, VCAN
20	trichuriasis	9.1	COL11A1, COL2A1, KCNJ13, RS1
21	thymus gland disease	9.1	COL11A1, COL2A1, KCNJ13, RS1
22	achondrogenesis, type ii or hypochondrogenesis	9.1	ADAMTS18, COL11A1, COL2A1, RS1
23	urachus cancer	8.9	COL11A1, COL2A1, KCNJ13, VCAN
24	dystrophies primarily involving the retinal pigment epithelium	7.3	ADAMTS18, COL11A1, COL2A1, FBLN1, KCNJ13, RS1

Graphical network of the top 20 diseases related to Vitreoretinal Dystrophy:

Symptoms for Vitreoretinal Dystrophy

Drugs & Therapeutics for Vitreoretinal Dystrophy

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

Drugs for Vitreoretinal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Vitamin A

approved, nutraceutical

Phase 2

413

11103-57-4, 68-26-8

445354

Synonyms:

(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol

(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol

(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol

(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol

.alpha.lin

.alpha.sterol

.beta.-Retinol

11103-57-4

13123-33-6

1341-18-0

1406-67-3

17104-91-5

1rbp

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol

3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer

4-06-00-04133 (Beilstein Handbook Reference)

53637-36-8

5979-23-7

68-26-8

95144_FLUKA

95144_SIGMA

95146_FLUKA

95146_SIGMA

A-Mulsal

A-Sol

A-Vi-Pel

A-Vitan

AC-11701

AC1L9HU3

AC1Q7BU9

ACON

ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)

AR-1L3057

ATAV

Afaxin

Agiolan

Agoncal

Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol

Alcovit A

All Trans Retinol

All-trans retinol

All-trans-Retinol

Alphalin

Alphasterol

Anatola

Anatola A

Anti-infective vitamin

Antixerophthalmic vitamin

Antixerophthalmisches Vitamin

Aoral

Apexol

Apostavit

Aquasol A

Aquasol A Parenteral

Aquasynth

Atars

Avibon

Avita

Avitol

Axerol

Axerophthol

Axerophtholum

BIDD:PXR0102

BRN 0403040

Bentavit A

Biosterol

C00473

C17276

C20H30O

CCRIS 5444

CHEBI:17336

CHEMBL986

CID445354

Chocola A

Chocola a

Cylasphere

D014801

D06543

DB00162

Del-VI-A

Disatabs Tabs

Dofsol

Dohyfral A

EINECS 200-683-7

EINECS 234-328-2

Epiteliol

HMS1921B04

HMS2092L13

HMS501I08

HSDB 815

Hi-A-Vita

Homagenets Aoral

Homagenets aorl

Hydrovit A

IDI1_000486

LMPR01090001

LPK

LS-1578

Lard Factor

M.V.C. 9+3

M.V.I.-12

MLS001066379

MLS001074751

MolPort-001-785-962

Mvc Plus

Myvpack

NCGC00091784-01

NCGC00091784-02

NCGC00091784-03

NCGC00091784-04

NCGC00091784-05

NCGC00091784-06

NSC 122759

NSC122759

Nio-A-Let

Oleovitamin A

Ophthalamin

Plivit A

Prepalin

R7632_SIGMA

Retin-11,12-t2-ol (9CI)

Retinol

Retinol [INN:BAN]

Retinol solution

Retinol, all-trans- (8CI)

Retinol-(cellular-retinol-binding-protein)

Retinolo

Retinolo [DCIT]

Retinolum

Retinolum [INN-Latin]

Retrovitamin A

Ro-a-vit

Rovimix A 500

SDCCGMLS-0066724.P001

SMP2_000102

SMR000112036

SPECTRUM1501203

ST057232

Sehkraft A

Solu-A

Spectrum5_000993

Spectrum5_001997

Super A

Testavol

Testavol S

Thalasphere

UNII-81G40H8B0T

UNII-G2SH0XKK91

Vaflol

Vafol

Veroftal

Vi-.alpha.

Vi-Alpha

Vi-Dom-A

Vi-a

Vio-A

Vitamin A

Vitamin A (Feed)

Vitamin A (USP)

Vitamin A alcohol

Vitamin A alcohol (VAN)

Vitamin A cryst

Vitamin A palmitate

Vitamin A1

Vitamin A1 alcohol

Vitamin A1 alcohol, all trans

Vitamin a

Vitamin- A

Vitamin- A alcohol

Vitamin- A alcohol solution

Vitamin- A1

Vitamin-?A

Vitamin-?A alcohol

Vitamin-?A alcohol solution

Vitamin-?A1

Vitamine A

Vitaminum A

Vitavel A

Vitavel-A

Vitpex

Vogan

Vogan-Neu

Vogan-nu

WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1

Wachstumsvitamin

ZINC03831417

Zinosan N

[11,12-3H]-Retinol

alin

all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol

all-trans-Retinol

all-trans-Retinyl alcohol

all-trans-Vitamin A

all-trans-Vitamin A alcohol

all-trans-Vitamin A1

all-trans-retinol

all-trans-retinyl alcohol

all-trans-vitamin A alcohol

b-Retinol

beta-Retinol

retinol

tROL

trans-Retinol

trans-Retinol acid (Vitamin A)

trans-Vitamin A alcohol

trans-retinol

2

acetic acid

approved, Nutraceutical

Phase 2

89

64-19-7

176

Synonyms:

ACETATE ion

Acetate

Acetic Acid

Acetic acid, ion(1-)

Azetat

Borofair

CH3-COO(-)

Ethanoat

Ethanoate

Ethanoic acid

Ethylate

Ethylic acid

Glacial acetate

Glacial acetic acid

Kyselina octova

MeCO2 anion

Methanecarboxylate

Methanecarboxylic acid

Vinegar

Vinegar acid

Vosol

3

Vitamins

Phase 2

3857

4

Retinol acetate

Phase 2

85

127-47-9

10245972

Synonyms:

13-cis-Retinyl acetate

Acetateall-trans-Retinol

Acetic acid, retinyl ester

All-trans-Retinyl acetate

All-trans-retinol acetate

All-trans-retinyl acetate

All-trans-retinylacetate

All-trans-vitamin a acetate

Crystalets

Davitan A 650

Myvak (van)

Myvax (van)

O(15)-Acetylretinol

O~15~-Acetyl-retinol

O~15~-Acetylretinol

RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)

Retinol acetate

Retinol acetate (JP15)

Retinol, acetate

Retinol, acetate, all-trans- (8CI)

Retinol, acetate, labeled with tritium

Retinyl acetate

Trans-retinyl acetate

Trans-vitamin a acetate

Vitamin A acetate

Vitamin A1 acetate

Vitamin a acetate (tritiated)

Vitamin a acetate (van)

Vitamin a alcohol acetate

Vitamin a ester

Vitamin a, acetate

5

Retinol palmitate

Phase 2

413

6

retinol

Nutraceutical

Phase 2

413

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease	Recruiting	NCT02402660	Phase 2
2	Argus® II Retinal Stimulation System Feasibility Protocol	Active, not recruiting	NCT00407602	Phase 2
3	Molecular Genetics of Retinal Degenerations	Recruiting	NCT00231010
4	PIONEER: Intraoperative and Perioperative OCT Study	Active, not recruiting	NCT02423161
5	Repository for Inherited Eye Diseases	Suspended	NCT00378742

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

Sources:
³³MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

³³

Eye, Thymus, Heart, Small intestine, Nk cells

Animal Models for Vitreoretinal Dystrophy or affiliated genes

Sources:
³⁸MGI
See all MalaCards sources

MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system	MP:0005388	8.7	COL11A1, COL2A1, FBLN1, TBX22
2	limbs/digits/tail	MP:0005371	8.6	COL11A1, COL2A1, FBLN1, VCAN
3	craniofacial	MP:0005382	8.6	COL11A1, COL2A1, FBLN1, TBX22
4	growth/size/body region	MP:0005378	7.4	ADAMTS18, COL11A1, COL2A1, FBLN1, TBX22, VCAN
5	skeleton	MP:0005390	7.3	ADAMTS18, COL11A1, COL2A1, FBLN1, TBX22, VCAN

Publications for Vitreoretinal Dystrophy

Sources:
⁵⁴PubMed
See all MalaCards sources

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:
²⁰GeneCards, ¹²DISEASES
See all MalaCards sources

Genes related to Vitreoretinal Dystrophy:

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	FBLN1	Fibulin 1	24.20	DISEASES inferred ¹² GeneCards inferred via : Publications (show sections)
2	RS1	Retinoschisin 1	18.50	DISEASES inferred ¹²
3	KCNJ13	Potassium Voltage-Gated Channel Subfamily J Member 13	16.75	DISEASES inferred ¹²
4	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	16.26	DISEASES inferred ¹²
5	TBX22	T-Box 22	16.25	DISEASES inferred ¹²
6	VCAN	Versican	16.18	DISEASES inferred ¹²
7	COL11A1	Collagen Type XI Alpha 1	15.71	DISEASES inferred ¹²
8	COL2A1	Collagen Type II Alpha 1	15.05	DISEASES inferred ¹²

Variations for Vitreoretinal Dystrophy

Expression for genes affiliated with Vitreoretinal Dystrophy

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

Pathways for genes affiliated with Vitreoretinal Dystrophy

Sources:
⁵²PathCards, ⁶²Thomson Reuters, ⁵⁶R&D Systems, ³¹KEGG, ⁵⁷Reactome
See all MalaCards sources

Pathways related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Cell adhesion_Cell-matrix glycoconjugates⁶²	9.5	FBLN1, VCAN
2	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁶	9.3	COL2A1, VCAN
3	Cell adhesion_ECM remodeling⁶²	9.3	COL2A1, VCAN
4	Protein digestion and absorption³¹	8.7	COL11A1, COL2A1, KCNJ13
5	Degradation of the extracellular matrix⁵⁷ Show member pathways Extracellular matrix organization⁵⁷ Collagen degradation⁵⁷	7.7	ADAMTS18, COL11A1, COL2A1, FBLN1, VCAN

GO Terms for genes affiliated with Vitreoretinal Dystrophy

Sources:
¹⁸Gene Ontology
See all MalaCards sources

Biological processes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	proteoglycan metabolic process	GO:0006029	9.5	COL11A1, COL2A1
2	collagen fibril organization	GO:0030199	9.5	COL11A1, COL2A1
3	cartilage condensation	GO:0001502	9.5	COL11A1, COL2A1
4	cartilage development	GO:0051216	9.2	COL11A1, COL2A1
5	sensory perception of sound	GO:0007605	9.1	COL11A1, COL2A1
6	collagen catabolic process	GO:0030574	8.8	COL11A1, COL2A1

Molecular functions related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.5	FBLN1, VCAN

Sources for Vitreoretinal Dystrophy

¹BitterDB

²CDC

³Cell Signaling Technology

⁴ClinicalTrials

⁵Clinvar

⁶Cochrane Library

⁷Cosmic

⁸dbSNP

⁹DGIdb

¹⁰Disease Ontology

¹¹diseasecard

¹²DISEASES

¹³DrugBank

¹⁴ExPASy

¹⁵FDA

¹⁶FMA

¹⁷Gene Expression Omnibus DataSets

¹⁸Gene Ontology

¹⁹GeneAnalytics

²⁰GeneCards

²¹GeneReviews

²²GeneTests

²³Genetics Home Reference

²⁴GTR

²⁵HGMD

²⁶HMDB

²⁷ICD10

²⁸ICD10 via Orphanet

²⁹ICD9CM

³⁰IUPHAR

³¹KEGG

³²LifeMap Discovery®

³³MalaCards

³⁴MedGen

³⁵MedlinePlus

³⁶MeSH

³⁷MESH via Orphanet

³⁸MGI

³⁹NCBI BioSystems Database

⁴⁰NCBI Bookshelf

⁴¹NCI

⁴²NCIt

⁴³NDF-RT

⁴⁴NIH Clinical Center

⁴⁵NIH Rare Diseases

⁴⁶NINDS

⁴⁷Novoseek

⁴⁸Novus Biologicals

⁴⁹OMIM

⁵⁰OMIM via Orphanet

⁵¹Orphanet

⁵²PathCards

⁵³PharmGKB

⁵⁴PubMed

⁵⁵QIAGEN

⁵⁶R&D Systems

⁵⁷Reactome

⁵⁸SinoBiological

⁵⁹SNOMED-CT

⁶⁰SNOMED-CT via Orphanet

⁶¹The Human Phenotype Ontology

⁶²Thomson Reuters

⁶³Tocris Bioscience

⁶⁴Tumor Gene Family of Databases

⁶⁵UMLS

⁶⁶UMLS via Orphanet

⁶⁷UniProtKB/Swiss-Prot

⁶⁸Wikipedia

MCID: VTR001 MIFTS: 32	Vitreoretinal Dystrophy malady Category: Eye diseases
Genes Tissues Related diseases Publications Pathways Drugs Download this MalaCard Expand all tables

Vitreoretinal Dystrophy malady

Aliases & Classifications for Vitreoretinal Dystrophy

Aliases & Descriptions for Vitreoretinal Dystrophy:

Classifications:

External Ids:

Summaries for Vitreoretinal Dystrophy

Related Diseases for Vitreoretinal Dystrophy

Diseases related to Vitreoretinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Vitreoretinal Dystrophy:

Symptoms for Vitreoretinal Dystrophy

Drugs & Therapeutics for Vitreoretinal Dystrophy

Drugs for Vitreoretinal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

Animal Models for Vitreoretinal Dystrophy or affiliated genes

MGI Mouse Phenotypes related to Vitreoretinal Dystrophy:

Publications for Vitreoretinal Dystrophy

Articles related to Vitreoretinal Dystrophy:

Genes related to Vitreoretinal Dystrophy

Genes related to Vitreoretinal Dystrophy:

Variations for Vitreoretinal Dystrophy

Expression for genes affiliated with Vitreoretinal Dystrophy

Pathways for genes affiliated with Vitreoretinal Dystrophy

Pathways related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

GO Terms for genes affiliated with Vitreoretinal Dystrophy

Biological processes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

Molecular functions related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

Sources for Vitreoretinal Dystrophy