MCID: CND005
MIFTS: 43

Cone Dystrophy malady

Summaries for Cone Dystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 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 retinal cone dystrophy 2 and fundus albipunctatus. 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 liver, retina and b cells, 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:64 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

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

Aliases & Classifications for Cone Dystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 47OMIM
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Aliases & Descriptions:

cone dystrophy 8 43 61
retinal cone dystrophy 8
cone dystrophy 3 61


External Ids:

Disease Ontology8 DOID:0050795

Related Diseases for Cone Dystrophy

Sources:
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
1retinal cone dystrophy 230.5RPGR, RDH5, CNGA3
2fundus albipunctatus30.5RDH5, RLBP1
3retinal cone dystrophy 330.4PDE6H
4cone dystrophy 430.4PDE6C
5achromatopsia30.2PDE6H, PDE6C, CNGA3, CNGB3
6congenital nystagmus30.0CNGB3, CNGA3
7cone-rod dystrophy30.0PITPNM3
8rhyns syndrome30.0NXNL1, GUCY2D, RDH5, RPGR, RLBP1
9cone dystrophy 310.6
10retinal cone dystrophy 3b10.6
11retinal cone dystrophy 3a10.4
12retinal cone dystrophy 410.4
13newfoundland rod-cone dystrophy10.4
14retinal cone dystrophy 110.3
15retinitis pigmentosa10.3
16cone dystrophy x-linked with tapetal-like sheen10.3
17macular dystrophy10.3
18micro syndrome10.2
19cataract microcornea syndrome10.2
20cone-rod dystrophy x-linked 110.2
21vitreoretinochoroidopathy10.2
22microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.2
23cone dystrophy, progressive x-linked, 210.2
24acute hydrops keratoconus10.0
25sensorineural hearing loss10.0
26pars planitis10.0
27alternating exotropia10.0
28spinocerebellar ataxia10.0
29leber congenital amaurosis 410.0
30cone-rod dystrophy x-linked 210.0
31cone-rod dystrophy 610.0
32glutathione synthetase deficiency10.0
33cone-rod dystrophy 410.0
34color vision deficiency10.0
35ataxia10.0
36cone-rod dystrophy 1410.0
37myopia 610.0RPGR
38age related macular degeneration10.0RLBP1
39retinitis10.0RDH5, RLBP1
40color blindness10.0PDE6H, CNGA3, CNGB3
41blue cone monochromacy10.0OPN1MW, OPN1LW
42red-green color vision defects10.0OPN1MW, OPN1LW
43thyroid hormone resistance syndrome10.0OPN1LW, OPN1MW2, OPN1MW
44hyperopia10.0GUCY2D
45leber congenital amaurosis10.0GUCY2D, GUCA1A, RPGR
46night blindness10.0RLBP1, RPGR, CACNA2D4, RDH5
47partial central choroid dystrophy10.0GUCA1A, GUCY2D
48blindness10.0NXNL1, GUCY2D, RPGR, RLBP1
49cholera10.0GUCA2A
50cone-rod dystrophy 210.0RPGR, KCNV2, GUCA2A, PITPNM3, GUCY2D, GUCA1A

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



Diseases related to cone dystrophy

Clinical Features for Cone Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

610356,610024,180020,610478

Drugs & Therapeutics for Cone Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cone Dystrophy

Drug clinical trials:

Search ClinicalTrials for Cone Dystrophy

Search NIH Clinical Center for Cone Dystrophy

Search CenterWatch for Cone Dystrophy

Genetic Tests for Cone Dystrophy

Anatomical Context for Cone Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Cone Dystrophy:

33
Liver, Retina, B cells

Animal Models for Cone Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cone Dystrophy:

37
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

Sources:
51PubMed
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Articles related to Cone Dystrophy:

(show top 50)    (show all 304)
idTitleAuthorsYear
1
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387991)
2014
2
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. (23428504)
2013
3
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. (22194653)
2011
4
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. (20939871)
2010
5
X-linked cone dystrophy caused by mutation of the red and green cone opsins. (20579627)
2010
6
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. (20706282)
2010
7
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
8
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. (19578027)
2009
9
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. (18235024)
2008
10
Eccentricity-dependent changes in local onset and offset responses in patients with progressive cone dystrophy. (17614114)
2007
11
A case of idiopathic perifoveal Telangiectasia preceded by features of cone dystrophy. (17891056)
2007
12
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. (17896311)
2007
13
Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. (18690027)
2007
14
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. (17377520)
2007
15
High-resolution retinal imaging of cone-rod dystrophy. (16650474)
2006
16
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. (16458719)
2006
17
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. (15734019)
2005
18
A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. (15629837)
2005
19
Glare sensitivity and professional drivers' safety: a case of rod-cone dystrophy with negative electroretinogram. (16029280)
2005
20
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). (15735604)
2005
21
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. (15494742)
2004
22
Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system. (15051206)
2004
23
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. (15302662)
2004
24
Rod and cone photoreceptor function in patients with cone dystrophy. (14691184)
2004
25
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. (15111602)
2004
26
Bilateral macular staphylomas in a patient with cone dystrophy. (12881357)
2003
27
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. (12543751)
2003
28
Keratoconus associated with cone-rod dystrophy: a case report. (11917188)
2002
29
From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]. (12224481)
2002
30
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene. (11846518)
2001
31
Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs. (11462159)
2001
32
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy. (10874321)
2000
33
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. (10888868)
2000
34
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. (11115851)
2000
35
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. (9683616)
1998
36
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. (9702199)
1998
37
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. (9610810)
1998
38
Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. (9052636)
1997
39
Autosomal dominant cone-rod dystrophy with negative electroretinogram. (7488580)
1995
40
Clinical subtypes of cone-rod dystrophy. (8512479)
1993
41
Late onset dominant cone dystrophy with early blue cone involvement. (1583655)
1992
42
Fundus albipunctatus associated with cone dystrophy. (1622952)
1992
43
Electroretinogram in cone dystrophy. (1821435)
1991
44
A case of progressive cone dystrophy with marked asymmetry in the fundus. (2064257)
1991
45
Dominant cone dystrophy starting with blue cone involvement. (2043573)
1991
46
Blood-retinal barrier function in patients with cone or cone-rod dystrophy. (3954658)
1986
47
Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family. (3703490)
1986
48
Cone-rod dystrophy. A clinical and histopathologic report. (3808606)
1986
49
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. (6940444)
1981
50
Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnosed as achromatopsia. (311163)
1978

Genetic Variations for Cone Dystrophy

Expression for genes affiliated with Cone Dystrophy

Sources:
1BioGPS, 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

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Cone Dystrophy

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 50PharmGKB
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Compounds related to Cone Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol45 2411.3RLBP1, RDH5
2sildenafil citrate6010.3PDE6H, PDE6C
3cilostamide60 45 2912.2PDE6H, PDE6C
4(r)-(-)-rolipram6010.1PDE6H, PDE6C
5guanylate4510.1GUCY2D, GUCA1A, GUCA2A
6vitamin a45 11 2412.0GUCY2D, RDH5, RLBP1
7amp-pnp45 2910.9GUCY2D, GUCA1A
8cgmp45 2910.9CNGA3, GUCY2D, GUCA1A, GUCA2A, RPGR
9calcium45 50 11 2412.3CACNA2D4, OPN1LW, GUCA2A, GUCA1A, GUCY2D, PITPNM3

GO Terms for genes affiliated with Cone Dystrophy

Sources:
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:01829810.2OPN1LW, OPN1MW2
3regulation of rhodopsin mediated signaling pathwayGO:02240010.2GUCY2D, GUCA1A
4rhodopsin mediated signaling pathwayGO:01605610.1GUCY2D, GUCA1A
5retinoid metabolic processGO:00152310.0OPN1LW, OPN1MW2, RDH5, RLBP1
6potassium ion transmembrane transportGO:0718059.9CNGA3, CNGB3
7signal transductionGO:0071659.7CNGB3, CNGA3, GUCA1A, GUCA2A, OPN1LW
8phototransduction, visible lightGO:0076039.3CNGB3, CNGA3, GUCY2D, GUCA1A, OPN1LW, OPN1MW2
9visual perceptionGO:0076019.0BEST1, RLBP1, RPGR, CNGB3, CNGA3, GUCY2D

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

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:04755510.2PDE6C, PDE6H
2intracellular cAMP activated cation channel activityGO:00522210.2CNGB3, CNGA3
3intracellular cGMP activated cation channel activityGO:00522310.1CNGA3, CNGB3
4cGMP bindingGO:03055310.0CNGB3, PDE6H, PDE6C, CNGA3
5photoreceptor activityGO:0098819.9OPN1MW2, OPN1LW

Products for genes affiliated with Cone Dystrophy

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Sources for Cone Dystrophy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet