MCID: CND005
MIFTS: 39

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 48 13 68
Retinal Cone Dystrophy 11
 
Cone Dystrophy 3 68

Classifications:



External Ids:

Disease Ontology11 DOID:0050795

Summaries for Cone Dystrophy

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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, and has symptoms including photophobia An important gene associated with Cone Dystrophy is GUCA1A (Guanylate Cyclase Activator 1A), and among its related pathways are Opsins and Retinoid cycle disease events. 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

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

(show top 50)    (show all 69)
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
10oculoauricular syndrome11.4
11cone-rod dystrophy 611.3
12vitreoretinochoroidopathy11.2
13cone-rod dystrophy, x-linked, 111.1
14retinitis pigmentosa11.0
15x-linked cone-rod dystrophy 211.0
16enhanced s-cone syndrome10.8
17cone-rod dystrophy 410.8
18retinal dystrophy and obesity10.7
19leber congenital amaurosis 410.7
20retinitis pigmentosa 6910.7
21cone-rod dystrophy10.7
22familial isolated restrictive cardiomyopathy10.2CNGB3, PDE6C
23stxbp1 encephalopathy with epilepsy10.2OPN1LW, OPN1MW
24lipoyltransferase 1 deficiency10.2CNGB3, PDE6C
25retinitis10.1
26colorblindness, deutan10.1CNGB3, OPN1LW
27retinal dystrophy, iris coloboma, and comedogenic acne syndrome10.1CACNA2D4, PDE6C
28retinitis pigmentosa 3410.1CNGB3, OPN1MW
29celiac disease 810.1CNGB3, MFRP
30inflammatory bowel disease 2010.1CNGB3, RPGR
31somatization disorder10.1CNGB3, OPN1LW, OPN1MW
32lumbosacral plexus lesion10.1CNGB3, OPN1LW, OPN1MW
33waisman syndrome10.0CNGB3, OPN1LW, OPN1MW
34proximal myopathy and ophthalmoplegia10.0GUCA1A, GUCY2D
35refractive error10.0GUCA1A, GUCY2D
36peroxisome biogenesis disorder 4a10.0CACNA2D4, GUCA1A, PDE6H
37fundus albipunctatus10.0
38neonatal abstinence syndrome9.9GUCA1A, GUCY2D
39partial central choroid dystrophy9.9GUCA1A, GUCY2D
40liver disease9.9
41choroiditis9.9
42adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency9.9CNGB3, GUCY2D
43hypertrichosis terminalis, generalized, with or without gingival hyperplasia9.8GUCY2D, KCNV2
44dystonia 169.8CNGB3, GUCY2D, RPGR
45achromatopsia9.8
46cataract9.8
47keratoconus9.8
48charcot-marie-tooth disease intermediate type9.8CACNA2D4, CNGB3, RPGR
49van buchem disease9.7GUCA1A, GUCY2D, PITPNM3, RPGR
50glutathione synthetase deficiency9.7

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



Diseases related to cone dystrophy

Symptoms & Phenotypes for Cone Dystrophy

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UMLS symptoms related to Cone Dystrophy:


photophobia

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053915.9CACNA2D4, CNGB3, GUCA1A, GUCY2D, MFRP, OPN1LW

Drugs & Therapeutics for Cone Dystrophy

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

(show all 47)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EphedrineapprovedPhase 1, Phase 2628299-42-39294
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 262890-82-47028
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 2217150-02-25743
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
4Respiratory System AgentsPhase 1, Phase 24997
5TetrahydrozolinePhase 1, Phase 2621
6Autonomic AgentsPhase 1, Phase 210150
7Vasoconstrictor AgentsPhase 1, Phase 22122
8MitogensPhase 1, Phase 21617
9Nasal DecongestantsPhase 1, Phase 2598
10Ophthalmic SolutionsPhase 1, Phase 21140
11Peripheral Nervous System AgentsPhase 1, Phase 223689
12Pharmaceutical SolutionsPhase 1, Phase 28192
13Antiviral AgentsPhase 1, Phase 29967
14Anti-Infective AgentsPhase 1, Phase 222062
15Gastrointestinal AgentsPhase 28402
16HIV Protease InhibitorsPhase 25470
17
protease inhibitorsPhase 25471
Synonyms:
 
protease inhibitors
18Dexamethasone acetatePhase 221711177-87-3
19Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
20HormonesPhase 214415
21Hormone AntagonistsPhase 213180
22glucocorticoidsPhase 25103
23Dexamethasone 21-phosphatePhase 22171
24AntiemeticsPhase 24022
25Anti-Inflammatory AgentsPhase 210729
26Antineoplastic Agents, HormonalPhase 25592
27BB 1101Phase 22171
28Interferon-gammaPhase 1, Phase 2152
29interferonsPhase 1, Phase 22175
30Omega 3 Fatty AcidNutraceuticalPhase 21018
31Soy BeanNutraceuticalPhase 2554
32GojiNutraceuticalPhase 212
33LyciumNutraceuticalPhase 212
34
Acetylcysteineapproved, investigationalPhase 1330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
35
Vitamin Aapproved, nutraceutical, vet_approvedPhase 149211103-57-4, 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
36VitaminsPhase 15282
37Trace ElementsPhase 16001
38MicronutrientsPhase 16001
39Retinol palmitatePhase 1492
40AntioxidantsPhase 13050
41Protective AgentsPhase 17443
42N-monoacetylcystinePhase 1330
43ExpectorantsPhase 1404
44AntidotesPhase 11071
45retinolNutraceuticalPhase 1492
46cysteineNutraceuticalPhase 1200
47Anesthetics9596

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP)Unknown statusNCT02110225Phase 1, Phase 2
2DHA and X-Linked Retinitis PigmentosaCompletedNCT00100230Phase 2
3Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium BarbarumRecruitingNCT02244996Phase 2
4Saffron Supplementation in Stargardt's DiseaseActive, not recruitingNCT01278277Phase 1, Phase 2
5Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaActive, not recruitingNCT01530659Phase 2
6Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective StudyEnrolling by invitationNCT02804360Phase 2
7Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)SuspendedNCT02338973Phase 1, Phase 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
11The FIGHT-RP1 StudyRecruitingNCT03063021Phase 1
12IRIS PILOT - Extended Pilot Study With a Retinal Implant SystemUnknown statusNCT00427180
13Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind PatientsCompletedNCT01497379
14Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
15Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
16Stem Cell Ophthalmology Treatment Study IIRecruitingNCT03011541
17Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
18Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
19Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
20High Resolution Retinal ImagingRecruitingNCT01866371
21Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078
22Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal DystrophyActive, not recruitingNCT02670980
23Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal DystrophyActive, not recruitingNCT01864486
24The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa PatientsNot yet recruitingNCT03078309Early Phase 1

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:

36
Eye, Retina, Liver, Testes

Publications for Cone Dystrophy

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Articles related to Cone Dystrophy:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy? (27982211)
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
Bilateral focal choroidal excavation in cone dystrophy. (27012694)
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
ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME. (26296051)
2015
9
Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression. (25603773)
2015
10
Cone dystrophy in patient with homozygous RP1L1 mutation. (25692141)
2015
11
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. (25692139)
2015
12
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. (25372533)
2014
13
Rod-cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. (24547929)
2014
14
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. (25342276)
2014
15
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. (25494382)
2014
16
Linear sebaceous nevus syndrome associated with rod-cone dystrophy. (25314308)
2014
17
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. (24480840)
2014
18
Peripheral Cone Dystrophy: A Diagnostic Improbability? (24705257)
2014
19
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. (24566882)
2014
20
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (24680887)
2014
21
Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function. (24370833)
2013
22
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. (23977029)
2013
23
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. (23143909)
2013
24
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". (23221069)
2013
25
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. (23337435)
2013
26
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. (23734073)
2013
27
Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response. (24029832)
2013
28
Paracentral cone dystrophy with tapetal-like sheen and mizuo phenomenon examined with different imaging techniques. (25391119)
2013
29
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. (23725738)
2013
30
Optical coherence tomography in progressive cone dystrophy. (23549508)
2013
31
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. (23456543)
2013
32
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
33
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5). (22183383)
2012
34
'Cone dystrophy with supranormal rod response' in children. (21900228)
2012
35
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (22052604)
2012
36
Restoration of vision in the pde6I^-deficient dog, a large animal model of rod-cone dystrophy. (22828504)
2012
37
Unusual paraneoplastic cause of vision loss: combined paraneoplastic cone dystrophy and optic neuropathy. (22652860)
2012
38
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. (23115240)
2012
39
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. (22903242)
2012
40
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. (21882291)
2011
41
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
42
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
43
Rod-cone dystrophy in spinocerebellar ataxia type 1. (21746990)
2011
44
Clinical course of cone dystrophy caused by mutations in the RPGR gene. (21866333)
2011
45
Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. (19952985)
2010
46
GCAP1 mutations associated with autosomal dominant cone dystrophy. (20238026)
2010
47
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. (20164459)
2010
48
Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy. (20213926)
2010
49
Progressive cone dystrophy, nystagmus and contact lenses. (20233667)
2010
50
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. (20300561)
2010

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:00973819.3GUCA1A, GUCY2D, OPN1LW, OPN1MW
3photoreceptor outer segmentGO:00017509.2CNGB3, GUCA1A, OPN1LW, OPN1MW, RPGR

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cytokinesisGO:003246710.5OPN1LW, OPN1MW
2protein-chromophore linkageGO:001829810.5OPN1LW, OPN1MW
3phototransductionGO:000760210.3GUCA1A, OPN1LW, OPN1MW
4regulation of rhodopsin mediated signaling pathwayGO:002240010.1GUCA1A, GUCY2D
5regulation of ion transmembrane transportGO:003476510.1CACNA2D4, CNGB3, KCNV2
6retinoid metabolic processGO:000152310.0OPN1LW, OPN1MW, RLBP1
7response to stimulusGO:00508967.4CNGB3, GUCA1A, GUCY2D, OPN1LW, OPN1MW, PDE6C
8visual perceptionGO:00076016.1CNGB3, 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:004755510.1PDE6C, PDE6H
23,5-cyclic-nucleotide phosphodiesterase activityGO:000411410.0PDE6C, PDE6H
3photoreceptor activityGO:00098819.8OPN1LW, OPN1MW
4cGMP bindingGO:00305539.6CNGB3, PDE6C, PDE6H

Sources for Cone 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