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 75 53 15 72
Retinal Cone Dystrophy 12
Cone Dystrophy 3 72
Dystrophy, Cone 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0050795
UMLS 72 C0730290 C1865869

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 Ophthalmic Solutions and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, 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 : 75 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 169)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 4 34.8 PDE6C CACNA2D4
2 cone dystrophy 3 34.4 PDE6H KCNV2 GUCA1A CACNA2D4
3 cone-rod dystrophy, x-linked, 2 33.0 RPGR OPN1LW
4 blue cone monochromacy 32.6 RHO OPN1MW OPN1LW CNGB3
5 cone-rod dystrophy 9 31.9 GUCY2D CNGB3
6 cone-rod dystrophy 6 31.6 RPGR PDE6H PDE6C GUCY2D GUCA1A CNGB3
7 cone-rod dystrophy 2 31.2 RPGR RHO GUCY2D GUCA1A
8 color vision deficiency 30.7 OPN1MW OPN1LW
9 retinitis 30.4 RPGR RLBP1 RHO
10 pathologic nystagmus 30.4 RHO KCNV2 CNGB3
11 retinoschisis 1, x-linked, juvenile 30.2 KCNV2 CNGB3
12 congenital stationary night blindness 30.1 RHO CNGB3 CACNA2D4
13 yemenite deaf-blind hypopigmentation syndrome 30.1 RPGR RHO GUCY2D
14 cone-rod dystrophy 5 29.9 PITPNM3 GUCY2D CNGB3
15 myopia 29.7 RPGR RHO OPN1LW
16 macular degeneration, age-related, 1 29.3 RLBP1 RHO BEST1
17 color blindness 29.3 PDE6H PDE6C OPN1MW OPN1LW CNGB3
18 tritanopia 29.3 RHO GUCY2D CNGB3
19 achromatopsia 29.0 RPGR PDE6H PDE6C OPN1MW OPN1LW CNGB3
20 stargardt disease 28.9 RPGR RHO PDE6H CNGB3
21 retinitis pigmentosa 28.2 RPGR RLBP1 RHO PITPNM3 OPN1MW OPN1LW
22 retinal degeneration 28.1 RPGR RLBP1 RHO GUCY2D GUCA1A BEST1
23 leber congenital amaurosis 27.5 RPGR RHO GUCY2D GUCA1A CNGB3 BEST1
24 retinal disease 27.0 RPGR RLBP1 RHO GUCY2D GUCA1A CNGB3
25 fundus dystrophy 26.2 RPGR RLBP1 RHO PDE6H PDE6C KCNV2
26 retinal cone dystrophy 3b 12.8
27 retinal cone dystrophy 3a 12.8
28 newfoundland rod-cone dystrophy 12.8
29 retinal cone dystrophy 4 12.7
30 retinal cone dystrophy 1 12.5
31 cone dystrophy, x-linked, with tapetal-like sheen 12.4
32 peripheral cone dystrophy 12.4
33 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.3
34 syndromic rod-cone dystrophy 12.3
35 vitreoretinochoroidopathy 11.9
36 oculoauricular syndrome 11.9
37 cone-rod dystrophy, x-linked, 1 11.9
38 cone-rod dystrophy 13 11.6
39 retinitis pigmentosa 38 11.6
40 cone-rod dystrophy 18 11.6
41 cone-rod dystrophy 19 11.6
42 retinitis pigmentosa 69 11.4
43 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
44 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.3
45 cone-rod dystrophy 7 11.2
46 cone-rod dystrophy 3 11.2
47 cone-rod dystrophy 10 11.2
48 cone-rod dystrophy 11 11.2
49 cone-rod dystrophy 12 11.2
50 cone-rod dystrophy 15 11.2

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 9.36 BEST1 CACNA2D4 CNGB3 GUCA1A GUCY2D OPN1LW
2 pigmentation MP:0001186 9.26 BEST1 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 Ophthalmic Solutions Phase 1, Phase 2
2 Mitogens Phase 1, Phase 2
3 Pharmaceutical Solutions Phase 1, Phase 2
4 interferons Phase 1, Phase 2
5 Interferon-gamma Phase 1, Phase 2
6 Antiviral Agents Phase 1, Phase 2
7 Anti-Infective Agents 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:

41
Retina, Eye, Bone, Testes, Liver, Brain, Skin

Publications for Cone Dystrophy

Articles related to Cone Dystrophy:

(show top 50) (show all 536)
# Title Authors PMID Year
1
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. 38
31390656 2019
2
Two-color pupillometry in KCNV2 retinopathy. 38
30927187 2019
3
[Progressive loss of vision in cone dystrophy. Search for evidence with macular OCT and multifocal ERG]. 38
30426193 2019
4
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. 38
31022684 2019
5
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. 38
30945270 2019
6
Isolated rod dysfunction associated with a novel genotype of CNGB1. 38
30976726 2019
7
Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation. 38
31247114 2019
8
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases. 38
31144483 2019
9
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. 38
31174678 2019
10
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. 38
29528978 2019
11
Unilateral pigmentary retinopathy: a retrospective case series. 38
30597758 2019
12
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. 38
30877594 2019
13
The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy. 38
30731082 2019
14
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B. 38
30998820 2019
15
Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations. 38
31264916 2019
16
Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly. 38
31077665 2019
17
The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2. 38
30819798 2019
18
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. 38
30893644 2019
19
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. 38
29370033 2019
20
Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients. 38
30646425 2019
21
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2. 38
31063015 2019
22
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy. 38
30588538 2019
23
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. 38
30836785 2019
24
A novel mutation in MERTK for rod-cone dystrophy in a North Indian family. 38
30851773 2019
25
A nonhuman primate model of inherited retinal disease. 38
30667376 2019
26
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 38
30267408 2019
27
Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline. 38
30711023 2019
28
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient. 38
30886724 2019
29
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. 38
30820446 2019
30
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 38
30418171 2018
31
Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations. 38
30526558 2018
32
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy. 38
30242501 2018
33
CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION. 38
29210963 2018
34
NOVEL CONE DYSTROPHY WITH CENTRAL ELLIPSOID ZONE LOSS ASSOCIATED WITH HUMAN RETINAL FASCIN GENE (FSCN2) MUTATION. 38
29016529 2018
35
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy. 38
29947570 2018
36
Choroidal and Sub-Retinal Pigment Epithelium Caverns: Multimodal Imaging and Correspondence with Friedman Lipid Globules. 38
29625839 2018
37
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. 38
29633607 2018
38
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. 38
29800053 2018
39
MERTK mutation update in inherited retinal diseases. 38
29659094 2018
40
Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. 38
29377742 2018
41
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus. 38
29550188 2018
42
ISCEV extended protocol for the dark-adapted red flash ERG. 38
29934801 2018
43
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION. 38
27685498 2018
44
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. 38
29220607 2018
45
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. 38
29120066 2018
46
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 38
29127258 2018
47
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. 38
29367880 2018
48
Ciliopathy: Bardet-Biedl Syndrome. 38
30578506 2018
49
WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family. 38
29071374 2018
50
Do cGMP Levels Drive the Speed of Photoreceptor Degeneration? 38
29721960 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 photoreceptor outer segment GO:0001750 9.35 RPGR RHO OPN1MW OPN1LW CNGB3
2 photoreceptor disc membrane GO:0097381 9.02 RHO OPN1MW OPN1LW GUCY2D GUCA1A
3 photoreceptor inner segment GO:0001917 8.85 RHO
4 membrane GO:0016020 10 RHO PITPNM3 PDE6C OPN1MW OPN1LW KCNV2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 RPGR RLBP1 RHO PDE6H PDE6C OPN1MW
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 RHO GUCY2D GUCA1A
3 retinoid metabolic process GO:0001523 9.56 RLBP1 RHO OPN1MW OPN1LW
4 cellular response to light stimulus GO:0071482 9.54 RHO OPN1MW OPN1LW
5 positive regulation of cytokinesis GO:0032467 9.52 OPN1MW OPN1LW
6 detection of light stimulus involved in visual perception GO:0050908 9.51 CACNA2D4 BEST1
7 protein-chromophore linkage GO:0018298 9.5 RHO OPN1MW OPN1LW
8 detection of visible light GO:0009584 9.49 OPN1MW OPN1LW
9 sensory perception of light stimulus GO:0050953 9.46 RHO PDE6C
10 phototransduction, visible light GO:0007603 9.43 RHO PDE6C
11 visual perception GO:0007601 9.36 RPGR RLBP1 RHO PDE6H PDE6C OPN1MW
12 phototransduction GO:0007602 9.33 RHO OPN1MW OPN1LW
13 signal transduction GO:0007165 10.02 RHO PDE6C OPN1MW OPN1LW GUCY2D GUCA1A

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

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PDE6H PDE6C
2 cGMP binding GO:0030553 9.33 PDE6H PDE6C CNGB3
3 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE6H PDE6C
4 11-cis retinal binding GO:0005502 9.26 RLBP1 RHO
5 G protein-coupled photoreceptor activity GO:0008020 9.13 RHO OPN1MW OPN1LW
6 photoreceptor activity GO:0009881 8.8 RHO OPN1MW OPN1LW

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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