MCID: CND005
MIFTS: 38

Cone Dystrophy malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cone Dystrophy

About this section

Aliases & Descriptions for Cone Dystrophy:

Name: Cone Dystrophy 11 48 13 68
Retinal Cone Dystrophy 11
 
Cone Dystrophy 3 68

Classifications:



External Ids:

Disease Ontology11 DOID:0050795

Summaries for Cone Dystrophy

About this section
NIH Rare Diseases:48 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 Diseases associated with visual transduction. 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:71 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone Dystrophy

About this section

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1newfoundland rod-cone dystrophy12.3
2retinal cone dystrophy 3b12.3
3retinal cone dystrophy 312.2
4cone dystrophy 412.2
5retinal cone dystrophy 412.2
6retinal cone dystrophy 111.9
7cone dystrophy x-linked with tapetal-like sheen11.8
8cone dystrophy-311.8
9blue cone monochromacy11.7
10cone-rod dystrophy 611.2
11vitreoretinochoroidopathy11.2
12cone-rod dystrophy, x-linked, 111.0
13retinitis pigmentosa11.0
14oculoauricular syndrome10.9
15enhanced s-cone syndrome10.8
16cone-rod dystrophy x-linked 210.8
17cone-rod dystrophy 410.8
18retinal dystrophy and obesity10.7
19leber congenital amaurosis 410.7
20retinitis pigmentosa 6910.7
21cone-rod dystrophy10.7
22tropical endomyocardial fibrosis10.3CNGB3, PDE6C
23retinitis pigmentosa 3410.3OPN1LW, OPN1MW
24sall4-related disorders10.3OPN1LW, OPN1MW
25jalili syndrome10.3CNGB3, PDE6C
26acquired color blindness10.2CNGB3, OPN1MW
27quebec platelet disorder10.1CACNA2D4, PDE6C
28retinitis10.1
29fundus albipunctatus10.0
30waisman syndrome10.0CNGB3, OPN1LW, OPN1MW
31hypersensitivity vasculitis9.9GUCA1A, GUCY2D
32liver disease9.9
33choroiditis9.9
34tuberculous peritonitis9.9GUCA1A, GUCY2D
35achromatopsia9.8
36cataract9.8
37keratoconus9.8
38choroidal sclerosis9.8GUCA1A, GUCY2D
39glutathione synthetase deficiency9.7
40retinoschisis9.7
41exudative vitreoretinopathy9.7
42sensorineural hearing loss9.7
43exotropia9.7
44pars planitis9.7
45retinal degeneration9.7
46neuropathy9.7
47chromosome 6q deletion9.7
48color vision deficiency9.7
49ataxia9.7
50hypertrichosis terminalis, generalized, with or without gingival hyperplasia9.7GUCY2D, KCNV2

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



Diseases related to cone dystrophy

Symptoms & Phenotypes for Cone Dystrophy

About this section

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053916.0CACNA2D4, CNGB3, GUCA1A, GUCY2D, MFRP, OPN1LW

Drugs & Therapeutics for Cone Dystrophy

About this section

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

(show all 42)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EphedrineapprovedPhase 1, Phase 2606299-42-39294
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
2
PseudoephedrineapprovedPhase 1, Phase 260690-82-47028
Synonyms:
( )-Pseudoephedrine
(+) threo-2-(methylamino)-1-phenyl-1-propanol
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-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-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-(+)-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
pseudoéphédrine
trans-Ephedrine
ψ-ephedrine
3
Dexamethasoneapproved, investigational, vet_approvedPhase 2208450-02-25743
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
4Interferon-gammaPhase 1, Phase 2145
5interferonsPhase 1, Phase 22137
6Antiviral AgentsPhase 1, Phase 29732
7Anti-Infective AgentsPhase 1, Phase 221402
8Pharmaceutical SolutionsPhase 1, Phase 27793
9Respiratory System AgentsPhase 1, Phase 24818
10Vasoconstrictor AgentsPhase 1, Phase 22027
11TetrahydrozolinePhase 1, Phase 2593
12Peripheral Nervous System AgentsPhase 1, Phase 222776
13Nasal DecongestantsPhase 1, Phase 2578
14Ophthalmic SolutionsPhase 1, Phase 21092
15MitogensPhase 1, Phase 21526
16Autonomic AgentsPhase 1, Phase 29774
17glucocorticoidsPhase 24920
18
protease inhibitorsPhase 25320
Synonyms:
 
protease inhibitors
19Gastrointestinal AgentsPhase 28109
20HIV Protease InhibitorsPhase 25319
21Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
22Dexamethasone acetatePhase 220841177-87-3
23HormonesPhase 213979
24Hormone AntagonistsPhase 212778
25Anti-Inflammatory AgentsPhase 210355
26Dexamethasone 21-phosphatePhase 22084
27AntiemeticsPhase 23888
28Antineoplastic Agents, HormonalPhase 25407
29BB 1101Phase 22084
30Soy BeanNutraceuticalPhase 2535
31Omega 3 Fatty AcidNutraceuticalPhase 2969
32LyciumNutraceuticalPhase 212
33GojiNutraceuticalPhase 212
34
Vitamin Aapproved, nutraceutical, vet_approvedPhase 146811103-57-4, 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
35Trace ElementsPhase 15802
36VitaminsPhase 15095
37Retinol palmitatePhase 1468
38AntioxidantsPhase 12928
39MicronutrientsPhase 15802
40Protective AgentsPhase 17190
41retinolNutraceuticalPhase 1468
42Anesthetics9001

Interventional clinical trials:

(show all 21)
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
4A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP)Active, not recruitingNCT02110225Phase 1, Phase 2
5Saffron Supplementation in Stargardt's DiseaseActive, not recruitingNCT01278277Phase 1, Phase 2
6Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaActive, not recruitingNCT01530659Phase 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
11IRIS PILOT - Extended Pilot Study With a Retinal Implant SystemUnknown statusNCT00427180
12Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind PatientsCompletedNCT01497379
13Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
14Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
15Stem Cell Ophthalmology Treatment Study IIRecruitingNCT03011541
16Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
17Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
18Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
19High Resolution Retinal ImagingRecruitingNCT01866371
20Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal DystrophyActive, not recruitingNCT02670980
21Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal DystrophyActive, not recruitingNCT01864486

Search NIH Clinical Center for Cone Dystrophy

Genetic Tests for Cone Dystrophy

About this section

Anatomical Context for Cone Dystrophy

About this section

MalaCards organs/tissues related to Cone Dystrophy:

36
Eye, Retina, Liver, Testes

Publications for Cone Dystrophy

About this section

Articles related to Cone Dystrophy:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Bilateral focal choroidal excavation in cone dystrophy. (27012694)
2016
2
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations. (27245533)
2016
3
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. (27067258)
2016
4
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION. (27685498)
2016
5
Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy? (27982211)
2016
6
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. (27977773)
2016
7
Multimodal imaging of a case of peripheral cone dystrophy. (25708979)
2015
8
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. (25692139)
2015
9
Cone dystrophy in patient with homozygous RP1L1 mutation. (25692141)
2015
10
ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME. (26296051)
2015
11
Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression. (25603773)
2015
12
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (24680887)
2014
13
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. (24566882)
2014
14
Linear sebaceous nevus syndrome associated with rod-cone dystrophy. (25314308)
2014
15
Rod-cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. (24547929)
2014
16
Peripheral Cone Dystrophy: A Diagnostic Improbability? (24705257)
2014
17
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. (25342276)
2014
18
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. (24480840)
2014
19
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. (25372533)
2014
20
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. (25494382)
2014
21
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. (23734073)
2013
22
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
23
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. (23725738)
2013
24
Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response. (24029832)
2013
25
Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function. (24370833)
2013
26
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". (23221069)
2013
27
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. (23456543)
2013
28
Optical coherence tomography in progressive cone dystrophy. (23549508)
2013
29
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. (23977029)
2013
30
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. (23143909)
2013
31
Paracentral cone dystrophy with tapetal-like sheen and mizuo phenomenon examined with different imaging techniques. (25391119)
2013
32
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. (23337435)
2013
33
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (22052604)
2012
34
Restoration of vision in the pde6I^-deficient dog, a large animal model of rod-cone dystrophy. (22828504)
2012
35
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. (23115240)
2012
36
'Cone dystrophy with supranormal rod response' in children. (21900228)
2012
37
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5). (22183383)
2012
38
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. (22903242)
2012
39
Unusual paraneoplastic cause of vision loss: combined paraneoplastic cone dystrophy and optic neuropathy. (22652860)
2012
40
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
41
Rod-cone dystrophy in spinocerebellar ataxia type 1. (21746990)
2011
42
Clinical course of cone dystrophy caused by mutations in the RPGR gene. (21866333)
2011
43
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. (21882291)
2011
44
Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. (21911584)
2011
45
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. (20939871)
2010
46
Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. (19952985)
2010
47
X-linked cone dystrophy caused by mutation of the red and green cone opsins. (20579627)
2010
48
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. (20300561)
2010
49
Progressive cone dystrophy, nystagmus and contact lenses. (20233667)
2010
50
GCAP1 mutations associated with autosomal dominant cone dystrophy. (20238026)
2010

Variations for Cone Dystrophy

About this section

Clinvar genetic disease variations for Cone Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA2D4NM_172364.4(CACNA2D4): c.2406C> A (p.Tyr802Ter)SNVPathogenicrs71454844GRCh37Chr 12, 1953632: 1953632

Expression for genes affiliated with Cone Dystrophy

About this section
Search GEO for disease gene expression data for Cone Dystrophy.

Pathways for genes affiliated with Cone Dystrophy

About this section

GO Terms for genes affiliated with Cone Dystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:009738110.2GUCA1A, GUCY2D
2photoreceptor outer segment membraneGO:00426229.6OPN1LW, OPN1MW
3photoreceptor outer segmentGO:00017509.0CNGB3, OPN1LW, OPN1MW, RPGR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of rhodopsin mediated signaling pathwayGO:002240010.4GUCA1A, GUCY2D
2cellular response to light stimulusGO:007148210.3OPN1LW, OPN1MW
3detection of visible lightGO:000958410.3OPN1LW, OPN1MW
4positive regulation of cytokinesisGO:003246710.3OPN1LW, OPN1MW
5protein-chromophore linkageGO:001829810.3OPN1LW, OPN1MW
6phototransductionGO:000760210.0GUCA1A, OPN1LW, OPN1MW
7response to stimulusGO:00508969.8PDE6H, RLBP1, RPGR
8retinoid metabolic processGO:00015239.8OPN1LW, OPN1MW, RLBP1
9visual perceptionGO:00076016.0CNGB3, GUCA1A, GUCY2D, MFRP, OPN1LW, OPN1MW

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

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:004755510.2PDE6C, PDE6H
2G-protein coupled photoreceptor activityGO:00080209.9OPN1LW, OPN1MW
3cGMP bindingGO:00305539.7CNGB3, PDE6C, PDE6H
4photoreceptor activityGO:00098819.6OPN1LW, OPN1MW

Sources for Cone Dystrophy

About this section
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