Aliases & Classifications for Cone Dystrophy

MalaCards integrated aliases for Cone Dystrophy:

Name: Cone Dystrophy 12 50 14 69
Retinal Cone Dystrophy 12
Cone Dystrophy 3 69

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:0050795

Summaries for Cone Dystrophy

NIH Rare Diseases : 50 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 cone-rod dystrophy 6 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/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotype is vision/eye.

Disease Ontology : 12 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

Wikipedia : 72 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone Dystrophy

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

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 31.8 GUCA1A GUCY2D
2 retinal cone dystrophy 3b 12.3
3 newfoundland rod-cone dystrophy 12.3
4 retinal cone dystrophy 3 12.2
5 cone dystrophy 4 12.2
6 retinal cone dystrophy 4 12.2
7 cone dystrophy x-linked with tapetal-like sheen 12.1
8 retinal cone dystrophy 1 12.1
9 cone dystrophy-3 11.7
10 blue cone monochromacy 11.6
11 oculoauricular syndrome 11.4
12 vitreoretinochoroidopathy 11.2
13 cone-rod dystrophy, x-linked, 1 11.0
14 retinitis pigmentosa 11.0
15 x-linked cone-rod dystrophy 2 11.0
16 enhanced s-cone syndrome 10.8
17 leber congenital amaurosis 4 10.7
18 retinitis pigmentosa 69 10.7
19 bardet-biedl syndrome 12 10.7
20 hereditary night blindness 10.7
21 achromatopsia 3 10.7
22 retinal dystrophy and obesity 10.7
23 6q terminal deletion syndrome 10.5 CNGB3 PDE6C
24 renal tubular dysgenesis, agtr1-related 10.4 OPN1LW OPN1MW
25 jalili syndrome 10.4 CNGB3 PDE6C
26 core binding factor acute myeloid leukemia 10.4 OPN1LW OPN1MW
27 quebec platelet disorder 10.2 CACNA2D4 PDE6C
28 retinitis 10.1
29 achromatopsia 2 10.1 CNGB3 MFRP
30 somatization disorder 10.1 CNGB3 OPN1LW OPN1MW
31 lumbosacral plexus lesion 10.1 CNGB3 OPN1LW OPN1MW
32 waisman syndrome 10.0 CNGB3 OPN1LW OPN1MW
33 urofacial syndrome 1 10.0 CNGB3 RPGR
34 diffuse secondary choroid atrophy 10.0 GUCA1A GUCY2D
35 fundus albipunctatus 10.0
36 choroiditis 9.9
37 liver disease 9.9
38 hypersensitivity vasculitis 9.9 GUCA1A GUCY2D
39 myopia 9.8
40 achromatopsia 9.8
41 cataract 9.8
42 keratoconus 9.8
43 tuberculous peritonitis 9.8 GUCA1A GUCY2D
44 hypertropia 9.7 GUCA1A GUCY2D
45 exudative vitreoretinopathy 9.7
46 sensorineural hearing loss 9.7
47 exotropia 9.7
48 pars planitis 9.7
49 glutathione synthetase deficiency 9.7
50 retinoschisis 9.7

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



Diseases related to Cone Dystrophy

Symptoms & Phenotypes for Cone Dystrophy

UMLS symptoms related to Cone Dystrophy:


photophobia

MGI Mouse Phenotypes related to Cone Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 CACNA2D4 CNGB3 GUCA1A GUCY2D MFRP OPN1LW

Drugs & Therapeutics for Cone Dystrophy

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

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
2
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
3 Autonomic Agents Phase 1, Phase 2
4 Mitogens Phase 1, Phase 2
5 Nasal Decongestants Phase 1, Phase 2
6 Ophthalmic Solutions Phase 1, Phase 2
7 Peripheral Nervous System Agents Phase 1, Phase 2
8 Pharmaceutical Solutions Phase 1, Phase 2
9 Respiratory System Agents Phase 1, Phase 2
10 Tetrahydrozoline Phase 1, Phase 2
11 Vasoconstrictor Agents Phase 1, Phase 2
12 Antioxidants Phase 2,Phase 1
13 Protective Agents Phase 2,Phase 1
14 Anesthetics Phase 2
15 Anti-Infective Agents Phase 1, Phase 2
16 Antiviral Agents Phase 1, Phase 2
17 Interferon-gamma Phase 1, Phase 2
18 interferons Phase 1, Phase 2
19
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
20 Micronutrients Phase 1
21 Retinol palmitate Phase 1
22 Trace Elements Phase 1
23 Vitamins Phase 1
24 retinol Nutraceutical Phase 1

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
2 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
3 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
4 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
5 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1 Vitamin A
6 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180
7 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
8 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
9 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
10 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980
11 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Active, not recruiting NCT01864486
12 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867

Search NIH Clinical Center for Cone Dystrophy

Genetic Tests for Cone Dystrophy

Anatomical Context for Cone Dystrophy

MalaCards organs/tissues related to Cone Dystrophy:

39
Eye, Retina, Liver, Testes

Publications for Cone Dystrophy

Articles related to Cone Dystrophy:

(show top 50) (show all 161)
id Title Authors Year
1
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. ( 28398482 )
2017
2
Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family. ( 28746191 )
2017
3
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. ( 28442884 )
2017
4
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. ( 28358949 )
2017
5
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. ( 28516000 )
2017
6
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. ( 28356705 )
2017
7
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. ( 27977773 )
2016
8
Bilateral focal choroidal excavation in cone dystrophy. ( 27012694 )
2016
9
Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy? ( 27982211 )
2016
10
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. ( 27067258 )
2016
11
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION. ( 27685498 )
2016
12
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations. ( 27245533 )
2016
13
ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME. ( 26296051 )
2015
14
Multimodal imaging of a case of peripheral cone dystrophy. ( 25708979 )
2015
15
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. ( 25692139 )
2015
16
Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression. ( 25603773 )
2015
17
Cone dystrophy in patient with homozygous RP1L1 mutation. ( 25692141 )
2015
18
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. ( 25372533 )
2014
19
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. ( 24480840 )
2014
20
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. ( 24680887 )
2014
21
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. ( 25342276 )
2014
22
Peripheral Cone Dystrophy: A Diagnostic Improbability? ( 24705257 )
2014
23
Linear sebaceous nevus syndrome associated with rod-cone dystrophy. ( 25314308 )
2014
24
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. ( 25494382 )
2014
25
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. ( 24566882 )
2014
26
Rod-cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. ( 24547929 )
2014
27
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. ( 23725738 )
2013
28
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. ( 23977029 )
2013
29
Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function. ( 24370833 )
2013
30
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. ( 23372375 )
2013
31
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". ( 23221069 )
2013
32
Optical coherence tomography in progressive cone dystrophy. ( 23549508 )
2013
33
Paracentral cone dystrophy with tapetal-like sheen and mizuo phenomenon examined with different imaging techniques. ( 25391119 )
2013
34
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. ( 23734073 )
2013
35
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. ( 23143909 )
2013
36
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. ( 23456543 )
2013
37
Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response. ( 24029832 )
2013
38
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. ( 23337435 )
2013
39
Unusual paraneoplastic cause of vision loss: combined paraneoplastic cone dystrophy and optic neuropathy. ( 22652860 )
2012
40
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. ( 22052604 )
2012
41
'Cone dystrophy with supranormal rod response' in children. ( 21900228 )
2012
42
Restoration of vision in the pde6I^-deficient dog, a large animal model of rod-cone dystrophy. ( 22828504 )
2012
43
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5). ( 22183383 )
2012
44
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. ( 22903242 )
2012
45
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. ( 23115240 )
2012
46
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. ( 22194653 )
2011
47
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
48
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. ( 21882291 )
2011
49
Clinical course of cone dystrophy caused by mutations in the RPGR gene. ( 21866333 )
2011
50
Rod-cone dystrophy in spinocerebellar ataxia type 1. ( 21746990 )
2011

Variations for Cone Dystrophy

Expression for Cone Dystrophy

Search GEO for disease gene expression data for Cone Dystrophy.

Pathways for Cone Dystrophy

GO Terms for Cone Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.26 CNGB3 OPN1LW OPN1MW RPGR
2 photoreceptor disc membrane GO:0097381 8.92 GUCA1A GUCY2D OPN1LW OPN1MW

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.61 CNGB3 GUCA1A GUCY2D OPN1LW OPN1MW PDE6C
2 retinoid metabolic process GO:0001523 9.43 OPN1LW OPN1MW RLBP1
3 positive regulation of cytokinesis GO:0032467 9.4 OPN1LW OPN1MW
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 GUCA1A GUCY2D
5 phototransduction GO:0007602 9.33 GUCA1A OPN1LW OPN1MW
6 protein-chromophore linkage GO:0018298 9.32 OPN1LW OPN1MW
7 visual perception GO:0007601 9.32 CNGB3 GUCA1A GUCY2D MFRP OPN1LW OPN1MW

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

id Name GO ID Score Top Affiliating Genes
1 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.26 PDE6C PDE6H
2 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.16 PDE6C PDE6H
3 photoreceptor activity GO:0009881 8.96 OPN1LW OPN1MW
4 cGMP binding GO:0030553 8.8 CNGB3 PDE6C PDE6H

Sources for Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....