MCID: VTR001
MIFTS: 29

Vitreoretinal Dystrophy malady

Category: Eye diseases

Aliases & Classifications for Vitreoretinal Dystrophy

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Aliases & Descriptions for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy 11 13 68
 
Vitreoretinal Dystrophies 11

Classifications:



External Ids:

Disease Ontology11 DOID:14251
ICD1030 H35.51
SNOMED-CT62 79556007
ICD9CM32 362.73

Summaries for Vitreoretinal Dystrophy

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MalaCards based summary: Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to upper respiratory tract disease and weaver johnson syndrome. 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

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

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1upper respiratory tract disease10.2KCNJ13, RS1
2weaver johnson syndrome10.1COL2A1, VCAN
3neonatal abstinence syndrome10.1COL2A1, KCNJ13
4marshall syndrome10.0COL11A1, COL2A1
5fibrochondrogenesis 110.0COL11A1, COL2A1
6deafness, autosomal dominant 1310.0COL11A1, COL2A1
7laryngomalacia10.0COL11A1, COL2A1
8toenail dystrophy, isolated10.0COL2A1, VCAN
9epiphyseal dysplasia, multiple, with myopia and deafness10.0COL11A1, COL2A1
10chronic diarrhea due to guanylate cyclase 2c overactivity10.0MMP8, VCAN
11albright's hereditary osteodystrophy10.0COL11A1, COL2A1
12epileptic encephalopathy, early infantile, 110.0COL2A1, RS1
13neuropathy, distal hereditary motor, type iia9.9COL11A1, COL2A1
14chromosomal disease9.9BGLAP, COL2A1
15vulvovaginitis9.9BGLAP, COL2A1
16plantar nerve lesion9.9COL11A1, COL2A1, KCNJ13
17moyamoya disease9.9COL11A1, COL2A1, KCNJ13
18warm antibody hemolytic anemia9.9COL11A1, COL2A1, KCNJ13
19charcot-marie-tooth disease type 59.9COL11A1, COL2A1, VCAN
20myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.9COL11A1, COL2A1, TBX22
21pancreas adenocarcinoma9.8BGLAP, COL2A1
22anterograde amnesia9.8COL11A1, COL2A1, KCNJ13, RS1
23smed strudwick type9.8ADAMTS18, COL11A1, COL2A1, RS1
24ureter cancer9.8COL11A1, COL2A1, KCNJ13, VCAN
25neuropathy9.7
26adult-onset still's disease8.7ADAMTS18, BGLAP, COL11A1, COL2A1, FBLN1, KCNJ13

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



Diseases related to vitreoretinal dystrophy

Symptoms & Phenotypes for Vitreoretinal Dystrophy

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.3ADAMTS18, COL11A1, FBLN1
2GR00366-A-848.8ADAMTS18, BGLAP, COL11A1
3GR00351-A-18.2BGLAP, COL11A1, COL2A1, MMP8, RS1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8COL11A1, COL2A1, FBLN1, KCNJ13, TBX22
2MP:00053888.5COL11A1, COL2A1, FBLN1, KCNJ13, TBX22
3MP:00053907.8ADAMTS18, COL11A1, COL2A1, FBLN1, KCNJ13, TBX22
4MP:00053787.7ADAMTS18, COL11A1, COL2A1, FBLN1, KCNJ13, TBX22

Drugs & Therapeutics for Vitreoretinal Dystrophy

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Aapproved, nutraceutical, vet_approvedPhase 249211103-57-4, 68-26-8445354
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 acidapproved, NutraceuticalPhase 211264-19-7176
Synonyms:
Acetate
Acetic acid, glacial
Aceticum acidum
Essigsäure
Ethanoat
Ethanoate
Ethanoic acid
Ethoic acid
Ethylate
 
Ethylic acid
Glacial acetate
Glacial acetic acid
HOAc
Kyselina octova
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
acide acétique
3VitaminsPhase 25282
4
Retinol acetatePhase 2107127-47-910245972
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
5Retinol palmitatePhase 2492
6retinolNutraceuticalPhase 2492

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseRecruitingNCT02402660Phase 2
2Argus® II Retinal Stimulation System Feasibility ProtocolActive, not recruitingNCT00407602Phase 2
3Molecular Genetics of Retinal DegenerationsCompletedNCT00231010
4Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078
5PIONEER: Intraoperative and Perioperative OCT StudyActive, not recruitingNCT02423161
6Repository for Inherited Eye DiseasesSuspendedNCT00378742

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

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Anatomical Context for Vitreoretinal Dystrophy

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MalaCards organs/tissues related to Vitreoretinal Dystrophy:

36
Eye

Publications for Vitreoretinal Dystrophy

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Articles related to Vitreoretinal Dystrophy:

idTitleAuthorsYear
1
Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. (12912698)
2003
2
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. (12912687)
2003
3
Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. (8082840)
1994
4
Proton relaxation times of the vitreous body in hereditary vitreoretinal dystrophy. (7970545)
1994

Variations for Vitreoretinal Dystrophy

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Expression for genes affiliated with Vitreoretinal Dystrophy

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Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

Pathways for genes affiliated with Vitreoretinal Dystrophy

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GO Terms for genes affiliated with Vitreoretinal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.2BGLAP, COL11A1, COL2A1, VCAN
2extracellular matrixGO:00310128.2ADAMTS18, COL11A1, COL2A1, FBLN1, MMP8, VCAN
3extracellular spaceGO:00056157.6BGLAP, COL11A1, COL2A1, FBLN1, MMP8, RS1
4proteinaceous extracellular matrixGO:00055787.4ADAMTS18, COL11A1, COL2A1, FBLN1, MMP8, VCAN
5extracellular regionGO:00055767.3ADAMTS18, BGLAP, COL11A1, COL2A1, FBLN1, MMP8

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.0COL11A1, COL2A1
2bone developmentGO:006034810.0BGLAP, COL2A1
3collagen fibril organizationGO:003019910.0COL11A1, COL2A1
4heart morphogenesisGO:000300710.0COL11A1, COL2A1
5inner ear morphogenesisGO:004247210.0COL11A1, COL2A1
6proteoglycan metabolic processGO:000602910.0COL11A1, COL2A1
7skeletal system morphogenesisGO:00487059.9COL11A1, COL2A1
8endodermal cell differentiationGO:00359879.8COL11A1, MMP8
9skeletal system developmentGO:00015019.5BGLAP, COL2A1, VCAN
10ossificationGO:00015039.4BGLAP, COL11A1, COL2A1
11extracellular matrix organizationGO:00301989.3COL11A1, COL2A1, FBLN1, VCAN
12collagen catabolic processGO:00305749.2COL11A1, COL2A1, MMP8
13visual perceptionGO:00076019.0COL11A1, COL2A1, RS1

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055098.9BGLAP, FBLN1, MMP8, VCAN
2extracellular matrix structural constituentGO:00052018.6COL11A1, COL2A1, FBLN1, VCAN

Sources for Vitreoretinal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet