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

Aliases & Classifications for Vitreoretinal Dystrophy

Sources:
¹¹Disease Ontology, ¹³DISEASES, ³⁰ICD10, ³²ICD9CM, ⁶²SNOMED-CT, ⁶⁸UMLS
See all MalaCards sources

Aliases & Descriptions for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy ¹¹ ¹³ ⁶⁸

Vitreoretinal Dystrophies ¹¹

Classifications:

MalaCards categories:
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology¹¹ DOID:14251

ICD10³⁰ H35.51

SNOMED-CT⁶² 79556007

ICD9CM³² 362.73

UMLS⁶⁸ C0154863

Summaries for Vitreoretinal Dystrophy

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards based summary: Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to vitreous abscess and bagassosis. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (Fibulin 1), and among its related pathways are Cell adhesion_Cell-matrix glycoconjugates and Cell adhesion_ECM remodeling. Affiliated tissues include eye, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance (Z-score < -2).

Related Diseases for Vitreoretinal Dystrophy

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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

(show all 26)

id	Related Disease	Score	Top Affiliating Genes
1	vitreous abscess	10.3	KCNJ13, RS1
2	bagassosis	10.2	COL11A1, KCNJ13
3	tuberculous peritonitis	10.1	COL2A1, KCNJ13
4	familial erythema nodosum	10.0	COL2A1, VCAN
5	stickler syndrome, type ii	10.0	COL11A1, COL2A1
6	epileptic encephalopathy, early infantile, 1	10.0	COL2A1, RS1
7	marshall syndrome	10.0	COL11A1, COL2A1
8	weissenbacher-zweymuller syndrome	9.9	COL11A1, COL2A1
9	laryngomalacia	9.9	COL11A1, COL2A1
10	smed strudwick type	9.9	COL11A1, COL2A1
11	acromesomelic dysplasia	9.9	COL11A1, COL2A1
12	slc40a1-related hereditary hemochromatosis	9.9	COL11A1, COL2A1
13	congenital chloride diarrhea	9.8	MMP8, VCAN
14	toenail dystrophy, isolated	9.8	COL2A1, VCAN
15	neuropathy	9.8
16	bone resorption disease	9.7	BGLAP, COL2A1
17	xanthomatosis	9.7	BGLAP, COL2A1
18	moyamoya disease	9.7	COL11A1, COL2A1, KCNJ13
19	wallerian degeneration	9.7	COL11A1, COL2A1, KCNJ13
20	myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	9.7	COL11A1, COL2A1, TBX22
21	ovarian insufficiency, familial	9.6	BGLAP, COL2A1
22	vulvovaginal candidiasis	9.5	BGLAP, COL2A1
23	dental pulp disease	9.4	COL11A1, COL2A1, KCNJ13, RS1
24	achondrogenesis, type ii or hypochondrogenesis	9.4	ADAMTS18, COL11A1, COL2A1, RS1
25	ureteric orifice cancer	9.3	COL11A1, COL2A1, KCNJ13, VCAN
26	retinal dystrophy in systemic or cerebroretinal lipidoses	8.1	ADAMTS18, COL11A1, COL2A1, FBLN1, KCNJ13, RS1

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

Symptoms & Phenotypes for Vitreoretinal Dystrophy

Sources:
²⁶GenomeRNAi, ⁴¹MGI
See all MalaCards sources

GenomeRNAi Phenotypes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

²⁶

id	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.3	ADAMTS18, COL11A1, FBLN1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-58	8.8	ADAMTS18, BGLAP, COL11A1
3	Resistant to vaccinia virus (VACV-A4L) infection	GR00351-A-1	8.2	BGLAP, COL11A1, COL2A1, MMP8, RS1

MGI Mouse Phenotypes related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system	MP:0005388	8.7	COL11A1, COL2A1, FBLN1, KCNJ13, TBX22
2	craniofacial	MP:0005382	8.6	COL11A1, COL2A1, FBLN1, KCNJ13, TBX22
3	skeleton	MP:0005390	7.9	ADAMTS18, COL11A1, COL2A1, FBLN1, KCNJ13, TBX22
4	growth/size/body region	MP:0005378	7.7	ADAMTS18, COL11A1, COL2A1, FBLN1, KCNJ13, TBX22

Drugs & Therapeutics for Vitreoretinal Dystrophy

Sources:
¹BitterDB, ⁴ClinicalTrials, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁵⁰Novoseek, ⁵⁶PharmGKB
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, vet_approved

Phase 2

468

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

(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 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

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 A1

Vitamin A1 alcohol

Vitamin A1 alcohol, all trans

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

107

64-19-7

176

Synonyms:

ACETATE ion

Acetate

Acetic acid, glacial

Acetic acid, ion(1-)

Azetat

CH3-COO(-)

Ethanoat

Ethanoate

Ethanoic acid

Ethylate

Ethylic acid

Glacial acetate

Glacial acetic acid

Kyselina octova

MeCO2 anion

Methanecarboxylate

Methanecarboxylic acid

Vinegar

Vinegar acid

3

Vitamins

Phase 2

5095

4

Retinol acetate

Phase 2

103

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

468

6

retinol

Nutraceutical

Phase 2

468

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	Completed	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:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Vitreoretinal Dystrophy:

³⁶

Eye

Publications for Vitreoretinal Dystrophy

Sources:
⁵⁷PubMed
See all MalaCards sources

Articles related to Vitreoretinal Dystrophy:

id	Title	Authors	Year
1	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
2	Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. (12912687)	Sarra G.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:
¹³DISEASES, ²¹GeneCards
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	23.37	DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
2	RS1	Retinoschisin 1	18.23	DISEASES inferred ¹³
3	KCNJ13	Potassium Voltage-Gated Channel Subfamily J Member 13	16.32	DISEASES inferred ¹³
4	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	15.84	DISEASES inferred ¹³
5	TBX22	T-Box 22	15.82	DISEASES inferred ¹³
6	VCAN	Versican	15.76	DISEASES inferred ¹³
7	COL11A1	Collagen Type XI Alpha 1 Chain	15.27	DISEASES inferred ¹³
8	COL2A1	Collagen Type II Alpha 1 Chain	14.63	DISEASES inferred ¹³
9	MMP8	Matrix Metallopeptidase 8	14.00	DISEASES inferred ¹³
10	BGLAP	Bone Gamma-Carboxyglutamate Protein	13.46	DISEASES inferred ¹³

Variations for Vitreoretinal Dystrophy

Expression for genes affiliated with Vitreoretinal Dystrophy

Sources:
¹⁸Gene 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:
³⁴KEGG, ⁵⁵PathCards, ⁵⁹R&D Systems, ⁶⁰Reactome, ⁶⁵Thomson Reuters
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 glycoconjugates⁶⁵	9.7	FBLN1, VCAN
2	Cell adhesion_ECM remodeling⁶⁵	9.4	COL2A1, VCAN
3	Protein digestion and absorption³⁴	9.0	COL11A1, COL2A1, KCNJ13
4	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁹	8.9	BGLAP, COL2A1, VCAN
5	Degradation of the extracellular matrix⁶⁰ Show member pathways Extracellular matrix organization⁶⁰ Collagen degradation⁶⁰	7.4	ADAMTS18, COL11A1, COL2A1, FBLN1, MMP8, VCAN

GO Terms for genes affiliated with Vitreoretinal Dystrophy

Sources:
¹⁹Gene Ontology
See all MalaCards sources

Cellular components related to Vitreoretinal Dystrophy according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	collagen trimer	GO:0005581	10.1	COL11A1, COL2A1
2	endoplasmic reticulum lumen	GO:0005788	9.6	BGLAP, COL11A1, COL2A1
3	extracellular matrix	GO:0031012	9.4	COL11A1, COL2A1, FBLN1, VCAN
4	extracellular space	GO:0005615	8.1	BGLAP, COL2A1, FBLN1, MMP8, RS1, VCAN
5	extracellular region	GO:0005576	7.6	BGLAP, COL11A1, COL2A1, FBLN1, MMP8, RS1
6	proteinaceous extracellular matrix	GO:0005578	7.4	ADAMTS18, COL11A1, COL2A1, FBLN1, MMP8, VCAN

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

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	cartilage condensation	GO:0001502	10.0	COL11A1, COL2A1
2	bone development	GO:0060348	10.0	BGLAP, COL2A1
3	cartilage development	GO:0051216	10.0	COL11A1, COL2A1
4	collagen fibril organization	GO:0030199	10.0	COL11A1, COL2A1
5	heart morphogenesis	GO:0003007	10.0	COL11A1, COL2A1
6	inner ear morphogenesis	GO:0042472	10.0	COL11A1, COL2A1
7	proteoglycan metabolic process	GO:0006029	10.0	COL11A1, COL2A1
8	skeletal system morphogenesis	GO:0048705	9.9	COL11A1, COL2A1
9	endodermal cell differentiation	GO:0035987	9.8	COL11A1, MMP8
10	skeletal system development	GO:0001501	9.5	BGLAP, COL2A1, VCAN
11	ossification	GO:0001503	9.4	BGLAP, COL11A1, COL2A1
12	extracellular matrix organization	GO:0030198	9.2	COL11A1, COL2A1, FBLN1, VCAN
13	collagen catabolic process	GO:0030574	9.2	COL11A1, COL2A1, MMP8
14	visual perception	GO:0007601	9.0	COL11A1, COL2A1, RS1