MCID: CND005
MIFTS: 41

Cone Dystrophy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone Dystrophy

MalaCards integrated aliases for Cone Dystrophy:

Name: Cone Dystrophy 12 74 52 15 71
Retinal Cone Dystrophy 12
Cone Dystrophy 3 71
Dystrophy, Cone 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0050795
UMLS 71 C0730290 C1865869

Summaries for Cone Dystrophy

NIH Rare Diseases : 52 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 Pharmaceutical Solutions and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are nervous system and 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 : 74 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone Dystrophy

Diseases in the Cone Dystrophy family:

Cone Dystrophy 3 Cone Dystrophy 4

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 4 34.8 PDE6C CACNA2D4
2 cone dystrophy 3 34.5 PDE6H KCNV2 GUCA1A ENSG00000287363 CACNA2D4
3 newfoundland rod-cone dystrophy 34.5 RLBP1 RHO PRPH2
4 cone-rod dystrophy, x-linked, 2 33.4 RPGR OPN1LW COD2
5 cone-rod dystrophy, x-linked, 1 33.3 RPGR OPN1LW
6 cone-rod dystrophy 12 32.9 PITPNM3 GUCY2D GUCA1A
7 cone-rod dystrophy 9 32.4 GUCY2D CNGB3
8 blue cone monochromacy 32.4 PDE6H PDE6C OPN1MW OPN1LW GUCY2D CNGB3
9 cone-rod dystrophy 3 32.0 GUCY2D ABCA4
10 leber congenital amaurosis 4 31.5 PRPH2 GUCY2D
11 cone-rod dystrophy 5 30.7 PITPNM3 GUCY2D
12 yemenite deaf-blind hypopigmentation syndrome 30.7 RPGR RHO GUCY2D ABCA4
13 cone-rod dystrophy, x-linked, 3 30.6 RPGR CACNA2D4
14 cone-rod dystrophy 6 30.6 RPGR PRPH2 PDE6H PDE6C KCNV2 GUCY2D
15 bornholm eye disease 30.5 OPN1MW OPN1LW
16 retinitis 30.4 RPGR RLBP1 RHO PRPH2 ABCA4
17 myopia 30.4 RPGR RHO OPN1LW CNGB3
18 night blindness 30.1 RPGR RLBP1 RHO PRPH2 GUCY2D ABCA4
19 tritanopia 30.1 RHO PDE6H PDE6C CNGB3
20 color vision deficiency 30.1 OPN1MW OPN1LW CNGA3
21 choroideremia 29.9 RPGR CNGB3 ABCA4
22 inherited retinal disorder 29.9 RPGR PRPH2 KCNV2 GUCY2D BEST1 ABCA4
23 stargardt macular degeneration 29.9 RHO PRPH2 ABCA4
24 fundus albipunctatus 29.8 RPGR RLBP1 RHO PRPH2 BEST1 ABCA4
25 gyrate atrophy of choroid and retina 29.6 RPGR RHO PRPH2 ABCA4
26 usher syndrome type 2 29.5 RPGR RHO PCDH15 ABCA4
27 usher syndrome 29.4 RPGR RHO PRPH2 PCDH15 GUCA1A ABCA4
28 retinal degeneration 29.2 RPGR RLBP1 RHO PRPH2 PITPNM3 GUCY2D
29 pathologic nystagmus 29.2 RHO PDE6H PDE6C OPN1LW KCNV2 GUCY2D
30 cone-rod dystrophy 2 29.1 RPGR RHO PRPH2 PITPNM3 PDE6H OPN1MW
31 retinoschisis 1, x-linked, juvenile 29.0 RPGR RHO CNGB3 CNGA3 ABCA4
32 scotoma 28.6 RPGR RHO PRPH2 KCNV2 GUCY2D CNGB3
33 retinitis pigmentosa 28.6 RPGR RLBP1 RHO PRPH2 PITPNM3 PDE6H
34 macular degeneration, age-related, 1 28.1 RPGR RLBP1 RHO PRPH2 GUCY2D CNGB3
35 color blindness 28.0 RPGR RHO PDE6H PDE6C OPN1MW OPN1LW
36 congenital stationary night blindness 28.0 RPGR RLBP1 RHO PRPH2 PDE6C GUCY2D
37 eye disease 27.7 RPGR RLBP1 RHO PRPH2 GUCY2D GUCA1A
38 achromatopsia 27.4 RPGR RHO PRPH2 PDE6H PDE6C OPN1LW
39 leber congenital amaurosis 27.3 RPGR RLBP1 RHO PRPH2 PDE6H PDE6C
40 stargardt disease 27.3 RPGR RLBP1 RHO PRPH2 KCNV2 GUCY2D
41 retinal disease 27.2 RPGR RLBP1 RHO PRPH2 PCDH15 OPN1LW
42 fundus dystrophy 26.5 RPGR RLBP1 RHO PRPH2 PITPNM3 PDE6H
43 retinal cone dystrophy 3b 12.8
44 retinal cone dystrophy 3a 12.8
45 retinal cone dystrophy 4 12.7
46 retinal cone dystrophy 1 12.5
47 cone dystrophy, x-linked, with tapetal-like sheen 12.4
48 peripheral cone dystrophy 12.4
49 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.3
50 syndromic rod-cone dystrophy 12.3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 ABCA4 CNGA3 CNGB3 GUCA1A GUCY2D PCDH15
2 vision/eye MP:0005391 9.5 ABCA4 BEST1 CACNA2D4 CNGA3 CNGB3 GUCA1A
3 pigmentation MP:0001186 9.43 ABCA4 BEST1 PRPH2 RHO RLBP1 RPGR

Drugs & Therapeutics for Cone Dystrophy

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1, Phase 2
2 Ophthalmic Solutions Phase 1, Phase 2
3 Mitogens Phase 1, Phase 2
4 Antiviral Agents Phase 1, Phase 2
5 interferons Phase 1, Phase 2
6 Anti-Infective Agents Phase 1, Phase 2
7 Interferon-gamma Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
2 Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
3 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
4 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
5 Phenotype Correlates Genotype of Inherited Retina Dystrophies Recruiting NCT03990727
6 Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B. Active, not recruiting NCT03975543
7 Bone Marrow Derived 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:

40
Eye, Retina, Bone, Liver, Testes, Skin, Brain

Publications for Cone Dystrophy

Articles related to Cone Dystrophy:

(show top 50) (show all 556)
# Title Authors PMID Year
1
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65. 61
32014860 2020
2
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. 61
31997113 2020
3
RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus. 61
31972715 2020
4
Defining the clinical phenotype of Saul-Wilson syndrome. 61
31949312 2020
5
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies. 61
32013026 2020
6
Analysis of retinal structure and function in cone dystrophy with supernormal rod response. 61
31960170 2020
7
Establishment and validation of an endoplasmic reticulum stress reporter to monitor zebrafish ATF6 activity in development and disease. 61
31852729 2019
8
Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians. 61
31864384 2019
9
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. 61
31766479 2019
10
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. 61
31728034 2019
11
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. 61
31077665 2019
12
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype. 61
31556760 2019
13
Leber congenital amaurosis in a young female. 61
31567747 2019
14
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers. 61
31651202 2019
15
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. 61
31696758 2019
16
CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings. 61
31875109 2019
17
Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy. 61
31762771 2019
18
A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl. 61
31720185 2019
19
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation. 61
31534065 2019
20
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. 61
31479088 2019
21
Two-color pupillometry in KCNV2 retinopathy. 61
30927187 2019
22
[Progressive loss of vision in cone dystrophy. Search for evidence with macular OCT and multifocal ERG]. 61
30426193 2019
23
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. 61
31390656 2019
24
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. 61
31022684 2019
25
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. 61
30945270 2019
26
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases. 61
31144483 2019
27
Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation. 61
31247114 2019
28
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. 61
31174678 2019
29
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. 61
29528978 2019
30
Unilateral pigmentary retinopathy: a retrospective case series. 61
30597758 2019
31
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. 61
30877594 2019
32
The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy. 61
30731082 2019
33
Isolated rod dysfunction associated with a novel genotype of CNGB1. 61
30976726 2019
34
Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations. 61
31264916 2019
35
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. 61
30998820 2019
36
The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2. 61
30819798 2019
37
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. 61
30893644 2019
38
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. 61
29370033 2019
39
Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients. 61
30646425 2019
40
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2. 61
31063015 2019
41
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy. 61
30588538 2019
42
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. 61
30836785 2019
43
A novel mutation in MERTK for rod-cone dystrophy in a North Indian family. 61
30851773 2019
44
A nonhuman primate model of inherited retinal disease. 61
30667376 2019
45
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 61
30267408 2019
46
Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline. 61
30711023 2019
47
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient. 61
30886724 2019
48
Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD. 61
32025184 2019
49
The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations. 61
30820446 2019
50
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 61
30418171 2018

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 membrane GO:0016020 10.16 RHO PRPH2 PITPNM3 PDE6C PCDH15 OPN1MW
2 integral component of plasma membrane GO:0005887 9.91 RHO PRPH2 PCDH15 OPN1MW OPN1LW GUCY2D
3 photoreceptor disc membrane GO:0097381 9.5 RHO OPN1MW OPN1LW GUCY2D GUCA1A ENSG00000287363
4 photoreceptor outer segment membrane GO:0042622 9.32 RHO PDE6H
5 photoreceptor outer segment GO:0001750 9.28 RPGR RHO PRPH2 PCDH15 OPN1MW OPN1LW
6 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.15 RHO PDE6C OPN1MW OPN1LW GUCY2D GUCA1A
2 ion transport GO:0006811 9.95 KCNV2 CNGB3 CNGA3 CACNA2D4 BEST1
3 response to stimulus GO:0050896 9.8 RPGR RLBP1 RHO PDE6H PDE6C OPN1MW
4 photoreceptor cell maintenance GO:0045494 9.65 RHO PCDH15 ABCA4
5 phototransduction GO:0007602 9.63 RHO OPN1MW OPN1LW
6 cellular response to light stimulus GO:0071482 9.61 RHO OPN1MW OPN1LW
7 protein-chromophore linkage GO:0018298 9.58 RHO OPN1MW OPN1LW
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.56 RHO GUCY2D GUCA1A ENSG00000287363
9 retinoid metabolic process GO:0001523 9.55 RLBP1 RHO OPN1MW OPN1LW ABCA4
10 detection of light stimulus involved in visual perception GO:0050908 9.54 CACNA2D4 BEST1
11 sensory perception of light stimulus GO:0050953 9.54 RHO PDE6C PCDH15
12 visual perception GO:0007601 9.53 RPGR RLBP1 RHO PRPH2 PDE6H PDE6C
13 detection of visible light GO:0009584 9.52 OPN1MW OPN1LW
14 positive regulation of guanylate cyclase activity GO:0031284 9.51 GUCA1A ENSG00000287363
15 phototransduction, visible light GO:0007603 9.5 RHO PDE6C ABCA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.49 PDE6H PDE6C
2 phospholipid transporter activity GO:0005548 9.48 PITPNM3 ABCA4
3 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.46 PDE6H PDE6C
4 intracellular cAMP-activated cation channel activity GO:0005222 9.43 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 9.4 CNGB3 CNGA3
6 calcium sensitive guanylate cyclase activator activity GO:0008048 9.37 GUCA1A ENSG00000287363
7 G protein-coupled photoreceptor activity GO:0008020 9.33 RHO OPN1MW OPN1LW
8 11-cis retinal binding GO:0005502 9.32 RLBP1 RHO
9 guanylate cyclase regulator activity GO:0030249 9.26 GUCA1A ENSG00000287363
10 photoreceptor activity GO:0009881 9.13 RHO OPN1MW OPN1LW
11 cGMP binding GO:0030553 8.92 PDE6H PDE6C CNGB3 CNGA3

Sources for Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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