MCID: CND005
MIFTS: 45

Cone Dystrophy malady

Summaries for Cone Dystrophy

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Cone Dystrophy, also known as retinal cone dystrophy, is related to retinitis and fundus dystrophy. An important gene associated with Cone Dystrophy is GUCA1A (guanylate cyclase activator 1A (retina)), and among its related pathways are the visual cycle I (vertebrates) and Vitamin A and carotenoid metabolism. The compounds 11-cis-retinol and sildenafil citrate have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and liver, and related mouse phenotypes are nervous system and 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:63 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

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

Aliases & Classifications for Cone Dystrophy

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8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 46OMIM
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Aliases & Descriptions:

cone dystrophy 8 42 60
retinal cone dystrophy 8
cone dystrophy 3 60


External Ids:

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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis30.6RLBP1, RDH5
2fundus dystrophy30.6RLBP1, RPGR, RDH5, GUCA1A, GUCY2D, CNGA3
3retinal cone dystrophy 230.5RPGR, RDH5, CNGA3
4fundus albipunctatus30.5RDH5, RLBP1
5cone dystrophy 430.3PDE6C
6retinal cone dystrophy 330.3PDE6H
7achromatopsia30.2PDE6C, PDE6H, CNGB3, CNGA3
8age related macular degeneration30.0RLBP1
9congenital nystagmus30.0CNGB3, CNGA3
10cone-rod dystrophy30.0PITPNM3
11rhyns syndrome30.0RDH5, GUCY2D, NXNL1, RPGR, RLBP1
12retinal degeneration30.0RLBP1, RPGR, RDH5, GUCA2A, GUCA1A, GUCY2D
13cone dystrophy 310.6
14retinal cone dystrophy 3b10.5
15retinal cone dystrophy 3a10.4
16retinal cone dystrophy 410.4
17newfoundland rod-cone dystrophy10.3
18retinal cone dystrophy 110.3
19retinitis pigmentosa10.2
20liver disease10.2
21cone dystrophy x-linked with tapetal-like sheen10.2
22cataract10.2
23keratoconus10.2
24cone-rod dystrophy x-linked 110.2
25vitreoretinochoroidopathy10.2
26microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.2
27cone dystrophy, progressive x-linked, 210.2
28acute hydrops keratoconus10.0
29sensorineural hearing loss10.0
30pars planitis10.0
31alternating exotropia10.0
32exotropia10.0
33neuropathy10.0
34retinoschisis10.0
35spinocerebellar ataxia10.0
36leber congenital amaurosis 410.0
37cone-rod dystrophy x-linked 210.0
38cone-rod dystrophy 610.0
39cone-rod dystrophy 410.0
40cone-rod dystrophy 1410.0
41myopia 610.0RPGR
42blue cone monochromacy10.0OPN1MW, OPN1LW
43color blindness10.0PDE6H, CNGA3, CNGB3
44red-green color vision defects10.0OPN1LW, OPN1MW
45thyroid hormone resistance syndrome10.0OPN1MW2, OPN1LW, OPN1MW
46hyperopia10.0GUCY2D
47leber congenital amaurosis10.0GUCY2D, GUCA1A, RPGR
48night blindness10.0RPGR, CACNA2D4, RDH5, RLBP1
49partial central choroid dystrophy10.0GUCA1A, GUCY2D
50blindness10.0RPGR, GUCY2D, NXNL1, RLBP1

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



Diseases related to cone dystrophy

Clinical Features for Cone Dystrophy

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46OMIM
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Clinical features from OMIM:

610356,610024,180020,610478

Drugs & Therapeutics for Cone Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cone Dystrophy

Drug clinical trials:

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Search NIH Clinical Center for Cone Dystrophy

Search CenterWatch for Cone Dystrophy

Genetic Tests for Cone Dystrophy

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Anatomical Context for Cone Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Cone Dystrophy:

32
Retina, Eye, Liver, Testes

Animal Models for Cone Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cone Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.3RPGR, PDE6C, GUCA1A, GUCY2D, CNGA3, CNGB3
2MP:00053918.5NXNL1, RLBP1, RPGR, CACNA2D4, PDE6C, RDH5

Publications for Cone Dystrophy

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50PubMed
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Articles related to Cone Dystrophy:

(show top 50)    (show all 317)
idTitleAuthorsYear
1
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387990)
2014
2
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography. (23758497)
2013
3
Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography. (23372375)
2013
4
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. (23725738)
2013
5
Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration. (24039390)
2013
6
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. (22929024)
2013
7
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. (24024198)
2013
8
Clinical course of cone dystrophy caused by mutations in the RPGR gene. (21866333)
2011
9
Spondylometaphyseal dysplasia with cone-rod dystrophy. (21412974)
2011
10
GCAP1 mutations associated with autosomal dominant cone dystrophy. (20238026)
2010
11
Spondylometaphyseal dysplasia with cone-rod dystrophy. (20141353)
2010
12
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. (19952985)
2010
13
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. (20554613)
2010
14
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. (20079539)
2010
15
Progressive cone dystrophy, nystagmus and contact lenses. (20233667)
2010
16
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. (19433727)
2009
17
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. (18235024)
2008
18
Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. (17962389)
2008
19
A case of idiopathic perifoveal Telangiectasia preceded by features of cone dystrophy. (17891056)
2007
20
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. (17429491)
2007
21
Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1. (17041576)
2007
22
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (16505158)
2006
23
De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy. (16681420)
2006
24
Progressive cone dystrophy with deutan genotype and phenotype. (16082559)
2006
25
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. (15531334)
2004
26
A new genetic locus for X linked progressive cone-rod dystrophy. (12807962)
2003
27
Mutations in the RPGR gene cause X-linked cone dystrophy. (11875055)
2002
28
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. (11857109)
2002
29
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. (12126946)
2002
30
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. (11580893)
2001
31
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. (11453854)
2001
32
ABCR expression in foveal cone photoreceptors and its role in stargardt macular dystrophy (11078864)
2000
33
Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree. (10857830)
2000
34
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. (11006213)
2000
35
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. (11053266)
2000
36
Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3. (9643300)
1998
37
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. (9683616)
1998
38
Mutations in the cone-rod homeobox gene are associated with the cone- rod dystrophy photoreceptor degeneration. (9427255)
1997
39
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. (8586428)
1995
40
Autosomal dominant cone-rod dystrophy with negative electroretinogram. (7488580)
1995
41
Antibodies against human retinal proteins in serum from patients with cone dystrophy. (1464972)
1992
42
Late onset dominant cone dystrophy with early blue cone involvement. (1583655)
1992
43
X linked progressive cone dystrophy with specific attention to carrier detection. (1583654)
1992
44
Ultrastructural and ERG findings in progressive rod-cone dystrophy in a litter of Labrador retrievers. (2028764)
1991
45
Rod-cone dystrophy of the retina. Continuation of a family study described in 1923. (2336929)
1990
46
Progressive cone-rod dystrophy and high myopia in a Finnish family. (2763809)
1989
47
Normal alpha-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophy. (3394762)
1988
48
Blood-retinal barrier function in patients with cone or cone-rod dystrophy. (3954658)
1986
49
Pars planitis and rod-cone dystrophy. (6333906)
1983
50
A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings. (946718)
1976

Genetic Variations for Cone Dystrophy

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Expression for genes affiliated with Cone Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cone Dystrophy

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Pathways for genes affiliated with Cone Dystrophy

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37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Cone Dystrophy

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44Novoseek, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 49PharmGKB
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Compounds related to Cone Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2411.3RLBP1, RDH5
2sildenafil citrate5910.3PDE6H, PDE6C
3cilostamide59 44 2812.2PDE6H, PDE6C
4(r)-(-)-rolipram5910.1PDE6H, PDE6C
5guanylate4410.1GUCY2D, GUCA1A, GUCA2A
6vitamin a44 11 2412.0GUCY2D, RDH5, RLBP1
7amp-pnp44 2810.9GUCY2D, GUCA1A
8cgmp44 2810.9CNGA3, GUCY2D, GUCA1A, GUCA2A, RPGR
9calcium44 49 11 2412.3CACNA2D4, OPN1LW, GUCA2A, GUCA1A, GUCY2D, PITPNM3

GO Terms for genes affiliated with Cone Dystrophy

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16Gene Ontology
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Cellular components related to Cone Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear outer membraneGO:00564010.1NXNL1, GUCY2D
2photoreceptor disc membraneGO:09738110.1GUCY2D, GUCA1A
3photoreceptor outer segmentGO:00175010.0CNGB3, CNGA3, RPGR
4photoreceptor outer segment membraneGO:0426229.9OPN1LW, OPN1MW2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1retinal cone cell developmentGO:04654910.3PDE6C, CNGA3
2protein-chromophore linkageGO:01829810.2OPN1MW2, OPN1LW
3regulation of rhodopsin mediated signaling pathwayGO:02240010.2GUCY2D, GUCA1A
4rhodopsin mediated signaling pathwayGO:01605610.1GUCA1A, GUCY2D
5retinoid metabolic processGO:00152310.0OPN1LW, OPN1MW2, RDH5, RLBP1
6potassium ion transmembrane transportGO:0718059.9CNGB3, CNGA3
7signal transductionGO:0071659.7CNGB3, CNGA3, GUCA1A, GUCA2A, OPN1LW
8phototransduction, visible lightGO:0076039.3RLBP1, PDE6C, RDH5, OPN1MW2, OPN1LW, GUCA1A
9visual perceptionGO:0076019.0RLBP1, GUCY2D, GUCA1A, OPN1LW, OPN1MW2, RDH5

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

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:04755510.2PDE6C, PDE6H
2intracellular cGMP activated cation channel activityGO:00522310.2CNGA3, CNGB3
3intracellular cAMP activated cation channel activityGO:00522210.1CNGA3, CNGB3
4cGMP bindingGO:03055310.0CNGB3, CNGA3, PDE6C, PDE6H
5photoreceptor activityGO:0098819.9OPN1LW, OPN1MW2

Products for genes affiliated with Cone Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet