Aliases & Classifications for Cone Dystrophy

MalaCards integrated aliases for Cone Dystrophy:

Name: Cone Dystrophy 12 76 53 15 73
Retinal Cone Dystrophy 12
Cone Dystrophy 3 73
Dystrophy, Cone 40

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:0050795

Summaries for Cone Dystrophy

NIH Rare Diseases : 53 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.

MalaCards based summary : Cone Dystrophy, also known as retinal cone dystrophy, is related to cone dystrophy 4 and cone dystrophy 3, 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 Visual Cycle in Retinal Rods. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotypes are vision/eye and pigmentation

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 : 76 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 70)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 4 34.3 CACNA2D4 PDE6C
2 cone dystrophy 3 33.8 CACNA2D4 GUCA1A KCNV2 PDE6H
3 blue cone monochromacy 32.4 CNGB3 OPN1LW OPN1MW
4 cone-rod dystrophy 6 31.2 CNGB3 GUCA1A PDE6C RPGR
5 cone-rod dystrophy 2 30.4 CNGB3 GUCA1A KCNV2 RPGR
6 color vision deficiency 30.0 OPN1LW OPN1MW
7 myopia 28.2 MFRP OPN1LW OPN1MW RPGR
8 macular degeneration, age-related, 1 28.1 BEST1 MFRP RLBP1
9 retinal degeneration 27.1 BEST1 GUCA1A MFRP RLBP1 RPGR
10 retinitis pigmentosa 26.6 BEST1 CACNA2D4 GUCA1A MFRP OPN1LW OPN1MW
11 achromatopsia 26.5 CNGB3 MFRP OPN1LW OPN1MW PDE6C PDE6H
12 fundus dystrophy 25.9 BEST1 CNGB3 GUCA1A KCNV2 MFRP RLBP1
13 retinal cone dystrophy 3b 12.5
14 retinal cone dystrophy 3a 12.5
15 newfoundland rod-cone dystrophy 12.4
16 retinal cone dystrophy 4 12.3
17 cone dystrophy, x-linked, with tapetal-like sheen 12.1
18 peripheral cone dystrophy 12.1
19 retinal cone dystrophy 1 12.0
20 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 11.9
21 vitreoretinochoroidopathy 11.6
22 oculoauricular syndrome 11.5
23 cone-rod dystrophy, x-linked, 1 11.3
24 cone-rod dystrophy, x-linked, 2 11.3
25 retinitis pigmentosa 38 10.9
26 leber congenital amaurosis 4 10.8
27 retinitis pigmentosa 69 10.8
28 bardet-biedl syndrome 12 10.8
29 retinal dystrophy and obesity 10.8
30 hereditary night blindness 10.8
31 oligocone trichromacy 10.3 CNGB3 PDE6C
32 jalili syndrome 10.3 CNGB3 PDE6C
33 retinitis 10.2
34 fundus albipunctatus 10.1
35 achromatopsia 2 10.0 CNGB3 MFRP
36 liver disease 10.0
37 choroiditis 10.0
38 aging 9.9
39 cataract 9.9
40 keratoconus 9.9
41 retinitis pigmentosa 44 9.8 CNGB3 RPGR
42 bestrophinopathy 9.8 BEST1 RLBP1
43 colorblindness, partial, protan series 9.8 CNGB3 OPN1LW OPN1MW
44 red-green color blindness 9.8 CNGB3 OPN1LW OPN1MW
45 choroid disease 9.8 CNGB3 RPGR
46 spinocerebellar ataxia 1 9.7
47 williams-beuren syndrome 9.7
48 glutathione synthetase deficiency 9.7
49 retinoschisis of fovea 9.7
50 light fixation seizure syndrome 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 BEST1 CACNA2D4 CNGB3 GUCA1A MFRP OPN1LW
2 pigmentation MP:0001186 9.26 BEST1 MFRP RLBP1 RPGR

Drugs & Therapeutics for Cone Dystrophy

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

(show all 15)
# 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 Anti-Infective Agents Phase 1, Phase 2
13 Antiviral Agents Phase 1, Phase 2
14 Interferon-gamma Phase 1, Phase 2
15 interferons Phase 1, Phase 2

Interventional clinical trials:


# 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 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
3 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
4 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
5 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
6 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
7 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable

Search NIH Clinical Center for Cone Dystrophy

Genetic Tests for Cone Dystrophy

Anatomical Context for Cone Dystrophy

MalaCards organs/tissues related to Cone Dystrophy:

41
Eye, Retina, Liver, Testes

Publications for Cone Dystrophy

Articles related to Cone Dystrophy:

(show top 50) (show all 172)
# Title Authors Year
1
Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. ( 29377742 )
2018
2
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). ( 29179637 )
2018
3
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy. ( 29947570 )
2018
4
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. ( 29220607 )
2018
5
Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report. ( 29643798 )
2018
6
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. ( 29057815 )
2017
7
ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. ( 27790702 )
2017
8
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. ( 28356705 )
2017
9
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. ( 29120066 )
2017
10
CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION. ( 29210963 )
2017
11
NOVEL CONE DYSTROPHY WITH CENTRAL ELLIPSOID ZONE LOSS ASSOCIATED WITH HUMAN RETINAL FASCIN GENE (FSCN2) MUTATION. ( 29016529 )
2017
12
Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family. ( 28746191 )
2017
13
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
14
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. ( 28398482 )
2017
15
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. ( 28442884 )
2017
16
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. ( 28358949 )
2017
17
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations. ( 27245533 )
2016
18
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. ( 27977773 )
2016
19
Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy? ( 27982211 )
2016
20
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. ( 27067258 )
2016
21
Bilateral focal choroidal excavation in cone dystrophy. ( 27012694 )
2016
22
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION. ( 27685498 )
2016
23
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. ( 25692139 )
2015
24
Cone dystrophy in patient with homozygous RP1L1 mutation. ( 25692141 )
2015
25
Multimodal imaging of a case of peripheral cone dystrophy. ( 25708979 )
2015
26
Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression. ( 25603773 )
2015
27
ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME. ( 26296051 )
2015
28
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. ( 24480840 )
2014
29
Linear sebaceous nevus syndrome associated with rod-cone dystrophy. ( 25314308 )
2014
30
Rod-cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. ( 24547929 )
2014
31
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. ( 24680887 )
2014
32
Peripheral Cone Dystrophy: A Diagnostic Improbability? ( 24705257 )
2014
33
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. ( 24566882 )
2014
34
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. ( 25372533 )
2014
35
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. ( 25342276 )
2014
36
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. ( 25494382 )
2014
37
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". ( 23221069 )
2013
38
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. ( 23456543 )
2013
39
Optical coherence tomography in progressive cone dystrophy. ( 23549508 )
2013
40
Paracentral cone dystrophy with tapetal-like sheen and mizuo phenomenon examined with different imaging techniques. ( 25391119 )
2013
41
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. ( 23977029 )
2013
42
Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function. ( 24370833 )
2013
43
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. ( 23143909 )
2013
44
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. ( 23337435 )
2013
45
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. ( 23725738 )
2013
46
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. ( 23372375 )
2013
47
Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response. ( 24029832 )
2013
48
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. ( 23734073 )
2013
49
'Cone dystrophy with supranormal rod response' in children. ( 21900228 )
2012
50
Restoration of vision in the pde6I^-deficient dog, a large animal model of rod-cone dystrophy. ( 22828504 )
2012

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:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.13 GUCA1A OPN1LW OPN1MW
2 photoreceptor outer segment GO:0001750 8.92 CNGB3 OPN1LW OPN1MW RPGR

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.78 BEST1 CACNA2D4 CNGB3 KCNV2
2 response to stimulus GO:0050896 9.61 BEST1 CNGB3 GUCA1A OPN1LW OPN1MW PDE6C
3 positive regulation of cytokinesis GO:0032467 9.46 OPN1LW OPN1MW
4 detection of light stimulus involved in visual perception GO:0050908 9.43 BEST1 CACNA2D4
5 retinoid metabolic process GO:0001523 9.43 OPN1LW OPN1MW RLBP1
6 protein-chromophore linkage GO:0018298 9.4 OPN1LW OPN1MW
7 cellular response to light stimulus GO:0071482 9.37 OPN1LW OPN1MW
8 phototransduction GO:0007602 9.33 GUCA1A OPN1LW OPN1MW
9 detection of visible light GO:0009584 9.32 OPN1LW OPN1MW
10 visual perception GO:0007601 9.32 BEST1 CNGB3 GUCA1A MFRP OPN1LW OPN1MW

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

# Name GO ID Score Top Affiliating Genes
1 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE6C PDE6H
2 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.26 PDE6C PDE6H
3 photoreceptor activity GO:0009881 9.16 OPN1LW OPN1MW
4 G-protein coupled photoreceptor activity GO:0008020 8.96 OPN1LW OPN1MW
5 cGMP binding GO:0030553 8.8 CNGB3 PDE6C PDE6H

Sources for Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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