MCID: CND005
MIFTS: 41

Cone Dystrophy malady

Rare diseases, Eye diseases categories
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Summaries for Cone Dystrophy

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NIH Rare Diseases:42 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 blue cone monochromacy and retinal degeneration. An important gene associated with Cone Dystrophy is GUCA1A (guanylate cyclase activator 1A (retina)), and among its related pathways are Visual Cycle in Retinal Rods and Opsins. The compounds cilostamide and sildenafil citrate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related mouse phenotype vision/eye.

Disease Ontology:8 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

Wikipedia:65 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Descriptions from OMIM:46 180020,610356,610024,610478

Aliases & Classifications for Cone Dystrophy

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Cone Dystrophy, Aliases & Descriptions:

Name: Cone Dystrophy 8 42 62
Retinal Cone Dystrophy 8
 
Cone Dystrophy 3 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:0050795

Related Diseases for Cone Dystrophy

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1blue cone monochromacy30.8OPN1MW, OPN1LW
2retinal degeneration30.2RLBP1, GUCA1A
3achromatopsia30.1PDE6C, PDE6H
4retinal cone dystrophy 3b10.6
5retinitis10.5
6cone dystrophy 310.5
7retinal cone dystrophy 3a10.4
8retinal cone dystrophy 410.4
9newfoundland rod-cone dystrophy10.4
10fundus albipunctatus10.4
11retinal cone dystrophy 210.4
12retinal cone dystrophy 110.4
13microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.4
14liver disease10.3
15retinitis pigmentosa10.3
16cone dystrophy x-linked with tapetal-like sheen10.3
17cone dystrophy 410.3
18color blindness10.3PDE6H
19cataract10.2
20keratoconus10.2
21cone-rod dystrophy x-linked 110.2
22rhyns syndrome10.2
23vitreoretinochoroidopathy10.2
24retinal cone dystrophy 310.2
25cone dystrophy, progressive x-linked, 210.2
26leber congenital amaurosis10.2GUCA1A
27red-green color vision defects10.1OPN1MW, OPN1LW
28thyroid hormone resistance syndrome10.1OPN1LW, OPN1MW
29age related macular degeneration10.1
30cone-rod dystrophy10.1
31sensorineural hearing loss10.1
32pars planitis10.1
33exotropia10.1
34neuropathy10.1
35retinoschisis10.1
36spinocerebellar ataxia10.1
37chromosome 6q deletion10.1
38cone-rod dystrophy 610.1
39cone-rod dystrophy x-linked 210.1
40glutathione synthetase deficiency10.1
41leber congenital amaurosis 410.1
42color vision deficiency10.1
43ataxia10.1
44retinitis pigmentosa 6910.1
45fundus dystrophy10.0RLBP1, GUCA1A

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



Diseases related to cone dystrophy

Symptoms for Cone Dystrophy

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Clinical features from OMIM:

180020,610356,610024,610478

Drugs & Therapeutics for Cone Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Cone Dystrophy

Search NIH Clinical Center for Cone Dystrophy

Genetic Tests for Cone Dystrophy

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Anatomical Context for Cone Dystrophy

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MalaCards organs/tissues related to Cone Dystrophy:

32
Eye, Retina, Liver, Testes

Animal Models for Cone Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Cone Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3OPN1MW, PDE6C, RLBP1, GUCA1A

Publications for Cone Dystrophy

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Articles related to Cone Dystrophy:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (24680887)
2014
2
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. (24566882)
2014
3
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". (23221069)
2013
4
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. (23456543)
2013
5
Optical coherence tomography in progressive cone dystrophy. (23549508)
2013
6
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. (23734073)
2013
7
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. (23977029)
2013
8
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
9
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (22052604)
2012
10
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
11
GCAP1 mutations associated with autosomal dominant cone dystrophy. (20238026)
2010
12
Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy. (20213926)
2010
13
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. (20939871)
2010
14
EYS is a major gene for rod-cone dystrophies in France. (20333770)
2010
15
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene. (19403518)
2009
16
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. (19111905)
2009
17
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. (19459154)
2009
18
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. (19433727)
2009
19
Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review. (18812772)
2008
20
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. (18235024)
2008
21
Eccentricity-dependent changes in local onset and offset responses in patients with progressive cone dystrophy. (17614114)
2007
22
A case of idiopathic perifoveal Telangiectasia preceded by features of cone dystrophy. (17891056)
2007
23
Retinoids restore normal cyclic nucleotide sensitivity of mutant ion channels associated with cone dystrophy. (17213799)
2006
24
Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy. (16020309)
2005
25
A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". (15722315)
2005
26
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). (14609822)
2003
27
Double cone dystrophy and RPE degeneration in the retina of the zebrafish gnn mutant. (12601061)
2003
28
Clinical and oculographic response to Dexedrine in a patient with rod-cone dystrophy, exotropia, and congenital aperiodic alternating nystagmus. (11720591)
2001
29
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. (11448328)
2001
30
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (11053295)
2000
31
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. (9934988)
1999
32
Familial macular cone dystrophy: diagnostic value of multifocal ERG and two-color threshold perimetry. (10333111)
1999
33
LOD scores, location scores, and X-linked cone dystrophy. (9718326)
1998
34
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. (8586428)
1995
35
Keratoconus and progressive cone dystrophy. (8570153)
1995
36
Selective cone dystrophy with protan genotype. (7591627)
1995
37
X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis. (8123616)
1994
38
Antibodies against human retinal proteins in serum from patients with cone dystrophy. (1464972)
1992
39
Dominant cone dystrophy starting with blue cone involvement. (1739714)
1992
40
Late onset dominant cone dystrophy with early blue cone involvement. (1583655)
1992
41
Electroretinogram in cone dystrophy. (1821435)
1991
42
Rod-cone dystrophy of the retina. Continuation of a family study described in 1923. (2336929)
1990
43
Progressive cone dystrophy. (3502298)
1987
44
X-linked cone dystrophy. An overlooked diagnosis? (3498700)
1987
45
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. (3489456)
1986
46
Supernormal scotopic ERG in cone dystrophy. (6607068)
1984
47
Pars planitis and rod-cone dystrophy. (6333906)
1983
48
Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. (6601944)
1983
49
Familial foveal retinoschisis associated with a rod-cone dystrophy. (306756)
1978
50
A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings. (946718)
1976

Variations for Cone Dystrophy

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Expression for genes affiliated with Cone Dystrophy

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Expression patterns in normal tissues for genes affiliated with Cone Dystrophy

Search GEO for disease gene expression data for Cone Dystrophy.

Pathways for genes affiliated with Cone Dystrophy

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Pathways related to Cone Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RLBP1, GUCA1A
29.5OPN1MW, OPN1LW
3
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
9.0PDE6H, PDE6C
4
Show member pathways
8.6GUCA1A, PDE6C, PDE6H
58.6GUCA1A, RLBP1, OPN1LW, OPN1MW
6
Show member pathways
8.6OPN1MW, OPN1LW, RLBP1, GUCA1A
7
Show member pathways
8.6GUCA1A, RLBP1, OPN1LW, OPN1MW

Compounds for genes affiliated with Cone Dystrophy

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Sources:
61Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Cone Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cilostamide61 44 2811.2PDE6C, PDE6H
2sildenafil citrate619.1PDE6H, PDE6C
3(r)-(-)-rolipram619.1PDE6C, PDE6H
4Cyclic GMP249.0PDE6H, PDE6C
5Guanosine monophosphate249.0PDE6H, PDE6C
6rolipram44 61 2810.9PDE6C, PDE6H
7ibmx44 61 2810.7PDE6H, PDE6C

GO Terms for genes affiliated with Cone Dystrophy

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Biological processes related to Cone Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoid metabolic processGO:0015239.4OPN1LW, RLBP1
2phototransduction, visible lightGO:0076037.9GUCA1A, RLBP1, PDE6C, OPN1LW
3visual perceptionGO:0076017.5OPN1LW, PDE6H, PDE6C, RLBP1, GUCA1A

Molecular functions related to Cone Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cGMP bindingGO:0305539.0PDE6H, PDE6C
23,5-cyclic-GMP phosphodiesterase activityGO:0475558.7PDE6H, PDE6C

Products for genes affiliated with Cone Dystrophy

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  • Antibodies
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Sources for Cone Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet