MCID: CND005
MIFTS: 39

Cone Dystrophy malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cone Dystrophy

Aliases & Descriptions 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 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/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 : 71 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 newfoundland rod-cone dystrophy 12.3
2 retinal cone dystrophy 3b 12.3
3 retinal cone dystrophy 3 12.2
4 cone dystrophy 4 12.2
5 retinal cone dystrophy 4 12.2
6 retinal cone dystrophy 1 11.9
7 cone dystrophy x-linked with tapetal-like sheen 11.8
8 cone dystrophy-3 11.8
9 blue cone monochromacy 11.7
10 oculoauricular syndrome 11.4
11 cone-rod dystrophy 6 11.3
12 vitreoretinochoroidopathy 11.2
13 cone-rod dystrophy, x-linked, 1 11.1
14 retinitis pigmentosa 11.0
15 x-linked cone-rod dystrophy 2 11.0
16 cone-rod dystrophy 4 10.8
17 enhanced s-cone syndrome 10.8
18 retinitis pigmentosa 69 10.7
19 cone-rod dystrophy 10.7
20 retinal dystrophy and obesity 10.7
21 leber congenital amaurosis 4 10.7
22 familial isolated restrictive cardiomyopathy 10.2 CNGB3 PDE6C
23 stxbp1 encephalopathy with epilepsy 10.2 OPN1LW OPN1MW
24 lipoyltransferase 1 deficiency 10.2 CNGB3 PDE6C
25 retinitis 10.1
26 colorblindness, deutan 10.1 CNGB3 OPN1LW
27 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.1 CACNA2D4 PDE6C
28 retinitis pigmentosa 34 10.1 CNGB3 OPN1MW
29 celiac disease 8 10.1 CNGB3 MFRP
30 inflammatory bowel disease 20 10.1 CNGB3 RPGR
31 somatization disorder 10.1 CNGB3 OPN1LW OPN1MW
32 lumbosacral plexus lesion 10.1 CNGB3 OPN1LW OPN1MW
33 waisman syndrome 10.0 CNGB3 OPN1LW OPN1MW
34 proximal myopathy and ophthalmoplegia 10.0 GUCA1A GUCY2D
35 refractive error 10.0 GUCA1A GUCY2D
36 peroxisome biogenesis disorder 4a 10.0 CACNA2D4 GUCA1A PDE6H
37 fundus albipunctatus 10.0
38 neonatal abstinence syndrome 9.9 GUCA1A GUCY2D
39 partial central choroid dystrophy 9.9 GUCA1A GUCY2D
40 liver disease 9.9
41 choroiditis 9.9
42 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 9.9 CNGB3 GUCY2D
43 hypertrichosis terminalis, generalized, with or without gingival hyperplasia 9.8 GUCY2D KCNV2
44 dystonia 16 9.8 CNGB3 GUCY2D RPGR
45 achromatopsia 9.8
46 cataract 9.8
47 keratoconus 9.8
48 charcot-marie-tooth disease intermediate type 9.8 CACNA2D4 CNGB3 RPGR
49 van buchem disease 9.7 GUCA1A GUCY2D PITPNM3 RPGR
50 exotropia 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 47)
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
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
4 Autonomic Agents Phase 1, Phase 2
5 Mitogens Phase 1, Phase 2
6 Nasal Decongestants Phase 1, Phase 2
7 Ophthalmic Solutions Phase 1, Phase 2
8 Peripheral Nervous System Agents Phase 1, Phase 2
9 Pharmaceutical Solutions Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Tetrahydrozoline Phase 1, Phase 2
12 Vasoconstrictor Agents Phase 1, Phase 2
13 Anti-Infective Agents Phase 1, Phase 2
14 Antiviral Agents Phase 1, Phase 2
15 Antiemetics Phase 2
16 Anti-Inflammatory Agents Phase 2
17 Antineoplastic Agents, Hormonal Phase 2
18 BB 1101 Phase 2
19 Dexamethasone 21-phosphate Phase 2
20 Dexamethasone acetate Phase 2 1177-87-3
21 Gastrointestinal Agents Phase 2
22 glucocorticoids Phase 2
23 HIV Protease Inhibitors Phase 2
24 Hormone Antagonists Phase 2
25 Hormones Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
27
protease inhibitors Phase 2
28 Interferon-gamma Phase 1, Phase 2
29 interferons Phase 1, Phase 2
30 Omega 3 Fatty Acid Nutraceutical Phase 2
31 Soy Bean Nutraceutical Phase 2
32 Goji Nutraceutical Phase 2
33 Lycium Nutraceutical Phase 2
34
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
36 Antioxidants Phase 1
37 Micronutrients Phase 1
38 Protective Agents Phase 1
39 Retinol palmitate Phase 1
40 Trace Elements Phase 1
41 Vitamins Phase 1
42 Antidotes Phase 1
43 Expectorants Phase 1
44 N-monoacetylcystine Phase 1
45 retinol Nutraceutical Phase 1
46 cysteine Nutraceutical Phase 1
47 Anesthetics

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
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
2 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2
3 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
4 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
5 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
6 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
7 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
8 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1
9 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1
10 Retinal Imaging in Patients With Inherited Retinal Degenerations Recruiting NCT00254605 Phase 1
11 The FIGHT-RP1 Study Recruiting NCT03063021 Phase 1
12 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180
13 Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients Completed NCT01497379
14 Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 Recruiting NCT02714816
15 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
16 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
17 Stem Cell Ophthalmology Treatment Study Recruiting NCT01920867
18 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278
19 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
20 High Resolution Retinal Imaging Recruiting NCT01866371
21 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
22 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980
23 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Active, not recruiting NCT01864486
24 The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients Not yet recruiting NCT03078309 Early Phase 1

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 155)
id Title Authors Year
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

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 disc membrane GO:0097381 9.26 GUCA1A GUCY2D OPN1LW OPN1MW
2 photoreceptor outer segment membrane GO:0042622 9.16 OPN1LW OPN1MW
3 photoreceptor outer segment GO:0001750 9.02 CNGB3 GUCA1A OPN1LW OPN1MW RPGR

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 regulation of ion transmembrane transport GO:0034765 9.58 CACNA2D4 CNGB3 KCNV2
3 positive regulation of cytokinesis GO:0032467 9.43 OPN1LW OPN1MW
4 retinoid metabolic process GO:0001523 9.43 OPN1LW OPN1MW RLBP1
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 GUCA1A GUCY2D
6 phototransduction GO:0007602 9.33 GUCA1A OPN1LW OPN1MW
7 protein-chromophore linkage GO:0018298 9.32 OPN1LW OPN1MW
8 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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