MCID: CND005
MIFTS: 41

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 10 45 12 65
Retinal Cone Dystrophy 10
 
Cone Dystrophy 3 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050795
UMLS65 C0730290, C1865869

Summaries for Cone Dystrophy

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NIH Rare Diseases:45 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 exudative vitreoretinopathy and newfoundland rod-cone dystrophy. 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 breast, and related mouse phenotype vision/eye.

Disease Ontology:10 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

Wikipedia:68 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 66)
idRelated DiseaseScoreTop Affiliating Genes
1exudative vitreoretinopathy28.0CACNA2D4, CNGB3, RDH5, RPGR
2newfoundland rod-cone dystrophy12.3
3retinal cone dystrophy 3b12.3
4retinal cone dystrophy 312.3
5retinal cone dystrophy 412.2
6cone dystrophy 412.2
7cone dystrophy with supernormal rod response12.2
8retinal cone dystrophy 112.0
9cone dystrophy x-linked with tapetal-like sheen11.9
10cone dystrophy-311.6
11blue cone monochromacy11.5
12cone-rod dystrophy 611.3
13vitreoretinochoroidopathy11.2
14cone-rod dystrophy, x-linked, 111.2
15retinitis pigmentosa11.2
16enhanced s-cone syndrome10.9
17cone-rod dystrophy x-linked 210.9
18cone-rod dystrophy 410.9
19mrcs syndrome10.9
20microcephaly-seizures-intellectual disability-heart disease syndrome10.5KCNV2, PDE6H
21waisman syndrome10.4OPN1LW, OPN1MW
22riboflavin transporter deficiency neuronopathy10.4OPN1LW, OPN1MW
23primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency10.4CNGB3, PDE6C
24red color blindness10.3CNGB3, OPN1MW
25jalili syndrome10.3CNGB3, PDE6C
26retinitis10.2
27tuberculous peritonitis10.2GUCA1A, GUCY2D
28quebec platelet disorder10.2CACNA2D4, PDE6C
29fundus albipunctatus10.1
30colorblindness, deutan10.1CNGB3, OPN1LW, OPN1MW
31choroidal sclerosis10.1GUCA1A, GUCY2D
32liver disease10.0
33oculoauricular syndrome10.0
34eye degenerative disease10.0GUCA1A, GUCY2D
35achromatopsia9.9
36cataract9.9
37keratoconus9.9
38deficiency anemia9.9CNGB3, PDE6H, RPGR
39retinal dystrophy and obesity9.8
40leber congenital amaurosis 49.8
41retinitis pigmentosa 699.8
42cone-rod dystrophy9.8
43radioulnar synostosis9.8GUCA1A, GUCY2D
44glutathione synthetase deficiency9.8
45retinoschisis9.8
46sensorineural hearing loss9.8
47choroiditis9.8
48exotropia9.8
49pars planitis9.8
50retinal degeneration9.8

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 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EphedrineapprovedPhase 1, Phase 2447299-42-39294
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 244790-82-47028
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
Ephed 60
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 Hydrochloride
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrine hydrochloride
Pseudoephedrine sulfate
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
Suphedrine
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
3Interferon-gammaPhase 1, Phase 2137
4interferonsPhase 1, Phase 21930
5Anti-Infective AgentsPhase 1, Phase 217220
6Antiviral AgentsPhase 1, Phase 28071
7Peripheral Nervous System AgentsPhase 1, Phase 218510
8Vasoconstrictor AgentsPhase 1, Phase 21303
9Respiratory System AgentsPhase 1, Phase 23931
10Ophthalmic SolutionsPhase 1, Phase 21006
11TetrahydrozolinePhase 1, Phase 2542
12Pharmaceutical SolutionsPhase 1, Phase 27004
13Nasal DecongestantsPhase 1, Phase 2414
14MitogensPhase 1, Phase 21386
15Omega 3 Fatty AcidNutraceuticalPhase 2912
16Soy BeanNutraceuticalPhase 2455
17GojiNutraceuticalPhase 210
18LyciumNutraceuticalPhase 210
19
Vitamin Aapproved, nutraceuticalPhase 141311103-57-4, 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
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-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
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
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 A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
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
20Trace ElementsPhase 13900
21Retinol palmitatePhase 1413
22VitaminsPhase 13857
23MicronutrientsPhase 13901
24AntioxidantsPhase 12442
25Protective AgentsPhase 15651
26retinolNutraceuticalPhase 1413
27Anesthetics7385

Interventional clinical trials:

(show all 19)
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
7Investigating the Effect of Vitamin A Supplementation on Retinitis PigmentosaCompletedNCT00065455Phase 1
8Retinal Imaging in Patients With Inherited Retinal DegenerationsRecruitingNCT00254605Phase 1
9Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)Not yet recruitingNCT02781480Phase 1
10Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind PatientsCompletedNCT01497379
11Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
12Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
13Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
14Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal DystrophyRecruitingNCT02670980
15Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
16Rod and Cone Mediated Function in Retinal DiseaseRecruitingNCT02617966
17High Resolution Retinal ImagingRecruitingNCT01866371
18Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal DystrophyActive, not recruitingNCT01864486
19IRIS 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:

33
Eye, Retina, Breast, T cells, Liver, Prostate, Heart

Animal Models for Cone Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Cone Dystrophy:

38
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 151)
idTitleAuthorsYear
1
Bilateral focal choroidal excavation in cone dystrophy. (27012694)
2016
2
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (24680887)
2014
3
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. (24566882)
2014
4
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". (23221069)
2013
5
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. (23456543)
2013
6
Optical coherence tomography in progressive cone dystrophy. (23549508)
2013
7
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. (23734073)
2013
8
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. (23977029)
2013
9
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
10
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (22052604)
2012
11
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
12
GCAP1 mutations associated with autosomal dominant cone dystrophy. (20238026)
2010
13
Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy. (20213926)
2010
14
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. (20939871)
2010
15
EYS is a major gene for rod-cone dystrophies in France. (20333770)
2010
16
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene. (19403518)
2009
17
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. (19111905)
2009
18
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. (19459154)
2009
19
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. (19433727)
2009
20
Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review. (18812772)
2008
21
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. (18235024)
2008
22
Eccentricity-dependent changes in local onset and offset responses in patients with progressive cone dystrophy. (17614114)
2007
23
A case of idiopathic perifoveal Telangiectasia preceded by features of cone dystrophy. (17891056)
2007
24
Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy. (16020309)
2005
25
A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". (15722315)
2005
26
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). (14609822)
2003
27
Double cone dystrophy and RPE degeneration in the retina of the zebrafish gnn mutant. (12601061)
2003
28
Clinical and oculographic response to Dexedrine in a patient with rod-cone dystrophy, exotropia, and congenital aperiodic alternating nystagmus. (11720591)
2001
29
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. (11448328)
2001
30
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (11053295)
2000
31
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. (9934988)
1999
32
Familial macular cone dystrophy: diagnostic value of multifocal ERG and two-color threshold perimetry. (10333111)
1999
33
LOD scores, location scores, and X-linked cone dystrophy. (9718326)
1998
34
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. (8586428)
1995
35
Keratoconus and progressive cone dystrophy. (8570153)
1995
36
Selective cone dystrophy with protan genotype. (7591627)
1995
37
X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis. (8123616)
1994
38
Antibodies against human retinal proteins in serum from patients with cone dystrophy. (1464972)
1992
39
Dominant cone dystrophy starting with blue cone involvement. (1739714)
1992
40
Late onset dominant cone dystrophy with early blue cone involvement. (1583655)
1992
41
Electroretinogram in cone dystrophy. (1821435)
1991
42
Rod-cone dystrophy of the retina. Continuation of a family study described in 1923. (2336929)
1990
43
Progressive cone dystrophy. (3502298)
1987
44
X-linked cone dystrophy. An overlooked diagnosis? (3498700)
1987
45
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. (3489456)
1986
46
Supernormal scotopic ERG in cone dystrophy. (6607068)
1984
47
Pars planitis and rod-cone dystrophy. (6333906)
1983
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
A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings. (946718)
1976

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.0OPN1LW, OPN1MW
2positive regulation of cytokinesisGO:003246710.0OPN1LW, OPN1MW
3response to stimulusGO:00508969.8RDH5, RLBP1
4visual perceptionGO:00076018.9GUCA1A, OPN1LW, OPN1MW, RDH5
5phototransduction, visible lightGO:00076038.7GUCY2D, PDE6C, RLBP1

Sources for Cone Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet