MCID: CND005
MIFTS: 43

Cone Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Cone Dystrophy

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Cone Dystrophy, also known as retinal cone dystrophy, is related to achromatopsia 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 (r)-(-)-rolipram and cilostamide 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...

Description from OMIM:47 180020,610356,610024,610478

Aliases & Classifications for Cone Dystrophy

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8Disease Ontology, 43NIH Rare Diseases, 62UMLS, 47OMIM
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Classifications:

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


Aliases & Descriptions:

cone dystrophy 8 43 62
retinal cone dystrophy 8
cone dystrophy 3 62


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Disease Ontology8 DOID:0050795

Related Diseases for Cone Dystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Cone Dystrophy 3 family:

cone dystrophy Cone Dystrophy 4

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1achromatopsia30.2PDE6H, PDE6C
2retinal degeneration30.1GUCA1A, RLBP1
3cone dystrophy 310.6
4retinal cone dystrophy 3b10.6
5retinitis10.5
6retinal cone dystrophy 3a10.4
7retinal cone dystrophy 410.4
8newfoundland rod-cone dystrophy10.4
9fundus albipunctatus10.4
10retinal cone dystrophy 210.4
11retinal cone dystrophy 110.3
12microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.3
13retinitis pigmentosa10.3
14liver disease10.3
15cone dystrophy x-linked with tapetal-like sheen10.3
16cone dystrophy 410.3
17retinal cone dystrophy 310.3
18cataract10.2
19keratoconus10.2
20cone-rod dystrophy x-linked 110.2
21vitreoretinochoroidopathy10.2
22cone dystrophy, progressive x-linked, 210.2
23color blindness10.1PDE6H
24age related macular degeneration10.0
25sensorineural hearing loss10.0
26pars planitis10.0
27cone-rod dystrophy10.0
28exotropia10.0
29neuropathy10.0
30retinoschisis10.0
31spinocerebellar ataxia10.0
32chromosome 6q deletion10.0
33cone-rod dystrophy 610.0
34cone-rod dystrophy x-linked 210.0
35glutathione synthetase deficiency10.0
36leber congenital amaurosis 410.0
37rhyns syndrome10.0
38cone-rod dystrophy 410.0
39color vision deficiency10.0
40ataxia10.0
41cone-rod dystrophy 1410.0
42retinitis pigmentosa 6910.0
43leber congenital amaurosis10.0GUCA1A
44red-green color vision defects10.0OPN1LW, OPN1MW
45thyroid hormone resistance syndrome10.0OPN1LW, OPN1MW
46blue cone monochromacy10.0OPN1MW, OPN1LW
47fundus dystrophy10.0GUCA1A, RLBP1

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



Diseases related to cone dystrophy

Symptoms for Cone Dystrophy

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47OMIM
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Clinical features from OMIM:

180020,610356,610024,610478

Drugs & Therapeutics for Cone Dystrophy

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Cone Dystrophy:

33
Eye, Retina, Liver, Testes

Animal Models for Cone Dystrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cone Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3OPN1MW, PDE6C, RLBP1, GUCA1A

Publications for Cone Dystrophy

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52PubMed
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Articles related to Cone Dystrophy:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". (23221069)
2013
2
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. (23456543)
2013
3
Optical coherence tomography in progressive cone dystrophy. (23549508)
2013
4
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. (23734073)
2013
5
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. (23977029)
2013
6
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
7
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (22052604)
2012
8
'Cone dystrophy with supranormal rod response' in children. (21900228)
2012
9
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
10
GCAP1 mutations associated with autosomal dominant cone dystrophy. (20238026)
2010
11
Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy. (20213926)
2010
12
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. (20939871)
2010
13
EYS is a major gene for rod-cone dystrophies in France. (20333770)
2010
14
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. (19952985)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cone Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1GUCA1ANM_000409.3(GUCA1A): c.296A> G (p.Tyr99Cys)single nucleotide variantPathogenicrs104893967GRCh37Chr 6, 42146112: 42146112
2GUCA1ANM_000409.3(GUCA1A): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893968GRCh37Chr 6, 42141500: 42141500
3GUCA1ANM_000409.3(GUCA1A): c.451C> T (p.Leu151Phe)single nucleotide variantPathogenicrs121434631GRCh37Chr 6, 42146986: 42146986

Expression for genes affiliated with Cone Dystrophy

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG
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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 II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
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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61Tocris Bioscience, 45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Cone Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(-)-rolipram619.2PDE6H, PDE6C
2cilostamide61 45 2911.1PDE6H, PDE6C
3sildenafil citrate619.1PDE6H, PDE6C
4Cyclic GMP249.0PDE6C, PDE6H
5Guanosine monophosphate249.0PDE6H, PDE6C
6rolipram45 61 2910.9PDE6H, PDE6C
7ibmx45 61 2910.7PDE6H, PDE6C

GO Terms for genes affiliated with Cone Dystrophy

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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet