MCID: CND005
MIFTS: 37

Cone Dystrophy malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cone Dystrophy

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Aliases & Descriptions for Cone Dystrophy:

Name: Cone Dystrophy 11 46 13 66
Retinal Cone Dystrophy 11
 
Cone Dystrophy 3 66

Classifications:



External Ids:

Disease Ontology11 DOID:0050795

Summaries for Cone Dystrophy

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NIH Rare Diseases:46 Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. cone cells allow a person to see color and fine detail, and they work best in bright light. the cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. there are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. the age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner. last updated: 7/1/2013

MalaCards based summary: Cone Dystrophy, also known as retinal cone dystrophy, is related to newfoundland rod-cone dystrophy and retinal cone dystrophy 3b. An important gene associated with Cone Dystrophy is GUCA1A (Guanylate Cyclase Activator 1A), and among its related pathways are Opsins and Vitamin A and carotenoid metabolism. Affiliated tissues include eye, retina and liver, and related mouse phenotype vision/eye.

Disease Ontology:11 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

Wikipedia:69 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone Dystrophy

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1newfoundland rod-cone dystrophy12.3
2retinal cone dystrophy 3b12.3
3retinal cone dystrophy 312.3
4retinal cone dystrophy 412.2
5cone dystrophy 412.2
6retinal cone dystrophy 112.0
7cone dystrophy x-linked with tapetal-like sheen12.0
8cone dystrophy-311.6
9blue cone monochromacy11.4
10cone-rod dystrophy 611.3
11vitreoretinochoroidopathy11.3
12cone-rod dystrophy, x-linked, 111.2
13retinitis pigmentosa11.1
14enhanced s-cone syndrome10.9
15cone-rod dystrophy x-linked 210.9
16cone-rod dystrophy 410.9
17retinitis pigmentosa autosomal recessive10.9
18retinitis pigmentosa 3410.5OPN1LW, OPN1MW
19sall4-related disorders10.5OPN1LW, OPN1MW
20tropical endomyocardial fibrosis10.4CNGB3, PDE6C
21jalili syndrome10.3CNGB3, PDE6C
22acquired color blindness10.3CNGB3, OPN1MW
23retinitis10.2
24quebec platelet disorder10.2CACNA2D4, PDE6C
25fundus albipunctatus10.1
26waisman syndrome10.1CNGB3, OPN1LW, OPN1MW
27liver disease10.0
28hypersensitivity vasculitis10.0GUCA1A, GUCY2D
29oculoauricular syndrome10.0
30achromatopsia9.9
31cataract9.9
32keratoconus9.9
33tuberculous peritonitis9.9GUCA1A, GUCY2D
34choroidal sclerosis9.8GUCA1A, GUCY2D
35retinal dystrophy and obesity9.8
36leber congenital amaurosis 49.8
37retinitis pigmentosa 699.8
38cone-rod dystrophy9.8
39refractive error9.8GUCA1A, GUCY2D
40glutathione synthetase deficiency9.8
41retinoschisis9.8
42exudative vitreoretinopathy9.8
43sensorineural hearing loss9.8
44choroiditis9.8
45exotropia9.8
46pars planitis9.8
47retinal degeneration9.8
48neuropathy9.8
49chromosome 6q deletion9.8
50color vision deficiency9.8

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



Diseases related to cone dystrophy

Symptoms for Cone Dystrophy

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Drugs & Therapeutics for Cone Dystrophy

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1interferonsPhase 1, Phase 22112
2
PseudoephedrinePhase 1, Phase 256990-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D-Psi-ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
 
Isoephedrine
KBio1_000451
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-Psi-ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
trans-Ephedrine
3
EphedrinePhase 1, Phase 2569299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
4
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
5glucocorticoidsPhase 24756
6Dexamethasone acetatePhase 220011177-87-3
7
DexamethasonePhase 2200150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
8
Vitamin ANutraceuticalPhase 145011103-57-4, 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
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C20H30O
CCRIS 5444
CHEBI:17336
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Hi-A-Vita
Homagenets Aoral
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IDI1_000486
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LS-1578
Lard Factor
M.V.C. 9+3
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MLS001066379
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NCGC00091784-01
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NCGC00091784-03
NCGC00091784-04
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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]
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Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
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Vi-.alpha.
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Vitamin- A
Vitamin- A alcohol
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Vitamin-?A1
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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
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all-trans-Vitamin A1
all-trans-retinol
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all-trans-vitamin A alcohol
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beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
9retinolNutraceuticalPhase 1450

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1DHA and X-Linked Retinitis PigmentosaCompletedNCT00100230Phase 2
2Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)RecruitingNCT02338973Phase 1, Phase 2
3Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium BarbarumRecruitingNCT02244996Phase 2
4Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaRecruitingNCT01530659Phase 2
5A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP)Active, not recruitingNCT02110225Phase 1, Phase 2
6Saffron Supplementation in Stargardt's DiseaseActive, not recruitingNCT01278277Phase 1, Phase 2
7Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective StudyEnrolling by invitationNCT02804360Phase 2
8Investigating the Effect of Vitamin A Supplementation on Retinitis PigmentosaCompletedNCT00065455Phase 1
9Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)RecruitingNCT02781480Phase 1
10Retinal Imaging in Patients With Inherited Retinal DegenerationsRecruitingNCT00254605Phase 1
11Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind PatientsCompletedNCT01497379
12Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
13Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
14Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
15Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal DystrophyRecruitingNCT02670980
16Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
17Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
18High Resolution Retinal ImagingRecruitingNCT01866371
19Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal DystrophyActive, not recruitingNCT01864486
20IRIS PILOT - Extended Pilot Study With a Retinal Implant SystemActive, not recruitingNCT00427180

Search NIH Clinical Center for Cone Dystrophy

Genetic Tests for Cone Dystrophy

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Anatomical Context for Cone Dystrophy

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MalaCards organs/tissues related to Cone Dystrophy:

34
Eye, Retina, Liver, Testes

Animal Models for Cone Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Cone Dystrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053915.9CACNA2D4, CNGB3, GUCA1A, GUCY2D, OPN1LW, PDE6C

Publications for Cone Dystrophy

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Articles related to Cone Dystrophy:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Bilateral focal choroidal excavation in cone dystrophy. (27012694)
2016
2
Multimodal imaging of a case of peripheral cone dystrophy. (25708979)
2015
3
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (24680887)
2014
4
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. (24566882)
2014
5
Linear sebaceous nevus syndrome associated with rod-cone dystrophy. (25314308)
2014
6
Rod-cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. (24547929)
2014
7
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. (23734073)
2013
8
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
9
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. (23725738)
2013
10
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (22052604)
2012
11
Restoration of vision in the pde6I^-deficient dog, a large animal model of rod-cone dystrophy. (22828504)
2012
12
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
13
Rod-cone dystrophy in spinocerebellar ataxia type 1. (21746990)
2011
14
Clinical course of cone dystrophy caused by mutations in the RPGR gene. (21866333)
2011
15
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. (20939871)
2010
16
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. (19952985)
2010
17
X-linked cone dystrophy caused by mutation of the red and green cone opsins. (20579627)
2010
18
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene. (19403518)
2009
19
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. (19433727)
2009
20
Fundus autofluorescence in cone dystrophy. (19340470)
2009
21
Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review. (18812772)
2008
22
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. (18235024)
2008
23
Peripheral cone dystrophy in an elderly man. (19278489)
2008
24
Eccentricity-dependent changes in local onset and offset responses in patients with progressive cone dystrophy. (17614114)
2007
25
A case of idiopathic perifoveal Telangiectasia preceded by features of cone dystrophy. (17891056)
2007
26
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. (17429491)
2007
27
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. (17377520)
2007
28
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. (17033974)
2006
29
Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy. (16020309)
2005
30
A(max) is the best a-wave measure for classifying Abyssinian cat rod/cone dystrophy. (16502305)
2005
31
Clinical and oculographic response to Dexedrine in a patient with rod-cone dystrophy, exotropia, and congenital aperiodic alternating nystagmus. (11720591)
2001
32
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (11053295)
2000
33
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. (10937591)
2000
34
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. (9934988)
1999
35
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. (9702199)
1998
36
Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. (9052636)
1997
37
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. (8586428)
1995
38
Keratoconus and progressive cone dystrophy. (8570153)
1995
39
DNA carrier detection in X-linked progressive cone dystrophy. (8076408)
1994
40
Antibodies against human retinal proteins in serum from patients with cone dystrophy. (1464972)
1992
41
Dominant cone dystrophy starting with blue cone involvement. (1739714)
1992
42
A case of progressive cone dystrophy with marked asymmetry in the fundus. (2064257)
1991
43
Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy. (2256842)
1990
44
X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers. (2740082)
1989
45
X-linked cone dystrophy. An overlooked diagnosis? (3498700)
1987
46
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. (3489456)
1986
47
Supernormal scotopic ERG in cone dystrophy. (6607068)
1984
48
Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. (6601944)
1983
49
Familial foveal retinoschisis associated with a rod-cone dystrophy. (306756)
1978
50
Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction. III. Genetic studies. (304775)
1978

Variations for Cone Dystrophy

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Expression for genes affiliated with Cone Dystrophy

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Search GEO for disease gene expression data for Cone Dystrophy.

Pathways for genes affiliated with Cone Dystrophy

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GO Terms for genes affiliated with Cone Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:00426229.8OPN1LW, OPN1MW
2photoreceptor disc membraneGO:00973819.7GUCA1A, GUCY2D
3photoreceptor outer segmentGO:00017508.6CNGB3, OPN1LW, OPN1MW, RPGR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1detection of visible lightGO:000958410.3OPN1LW, OPN1MW
2cellular response to light stimulusGO:007148210.3OPN1LW, OPN1MW
3protein-chromophore linkageGO:001829810.1OPN1LW, OPN1MW
4phototransductionGO:00076029.9GUCA1A, OPN1LW, OPN1MW
5regulation of rhodopsin mediated signaling pathwayGO:00224009.8GUCA1A, GUCY2D
6positive regulation of cytokinesisGO:00324679.8OPN1LW, OPN1MW
7retinoid metabolic processGO:00015239.1OPN1LW, OPN1MW, RDH5, RLBP1
8response to stimulusGO:00508969.0PDE6H, RDH5, RLBP1, RPGR
9visual perceptionGO:00076016.0CNGB3, GUCA1A, GUCY2D, OPN1LW, OPN1MW, PDE6C

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

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:004755510.1PDE6C, PDE6H
2photoreceptor activityGO:00098819.9OPN1LW, OPN1MW
3G-protein coupled photoreceptor activityGO:00080209.9OPN1LW, OPN1MW
4cGMP bindingGO:00305539.5CNGB3, PDE6C, PDE6H

Sources for Cone Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet