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:

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Drug clinical trials:

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Search NIH Clinical Center for Cone Dystrophy

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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
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". (23221069)
2013
2
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. (23472098)
2013
3
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. (22264887)
2012
4
Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy. (23251588)
2012
5
Cone-rod dystrophy can be a manifestation of Danon disease. (22290069)
2012
6
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. (21728811)
2012
7
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. (21464903)
2011
8
Optical coherence tomography findings in a case of cone-rod dystrophy. (21117575)
2010
9
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. (20164459)
2010
10
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. (19111905)
2009
11
Unilateral retinitis pigmentosa and cone-rod dystrophy. (19668577)
2009
12
Functional and structural changes in the retina of wire-haired dachshunds with early-onset cone-rod dystrophy. (18326738)
2008
13
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy. (18706439)
2008
14
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. (17896311)
2007
15
Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund. (17724213)
2007
16
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. (16896346)
2006
17
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. (16644365)
2006
18
Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy. (16020309)
2005
19
A(max) is the best a-wave measure for classifying Abyssinian cat rod/cone dystrophy. (16502305)
2005
20
Neuroprotection of photoreceptor cells in rod-cone dystrophies: from cell therapy to cell signalling]. (15771002)
2005
21
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. (15953638)
2005
22
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. (15494742)
2004
23
Progressive cone dystrophy and sensorineural hearing loss. (15682917)
2004
24
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). (14609822)
2003
25
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. (12359607)
2002
26
Keratoconus associated with cone-rod dystrophy: a case report. (11917188)
2002
27
Clinical and oculographic response to Dexedrine in a patient with rod-cone dystrophy, exotropia, and congenital aperiodic alternating nystagmus. (11720591)
2001
28
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. (11565546)
2001
29
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. (11484154)
2001
30
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy. (10874321)
2000
31
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. (10888868)
2000
32
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (10958761)
2000
33
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. (10937591)
2000
34
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family. (11135490)
2000
35
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. (10430891)
1999
36
Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. (9951474)
1999
37
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. (9618177)
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 associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. (8540854)
1996
40
Cleft lip and cone-rod dystrophy in a consanguineous sibship. (8905195)
1996
41
Selective cone dystrophy with protan genotype. (7591627)
1995
42
Retinal cone dystrophy and chromosome 6(q26) deletions. (2241088)
1990
43
Cone dystrophy and supernormal dark-adapted b-waves in the electroretinogram. (2186970)
1990
44
X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers. (2740082)
1989
45
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. (3489456)
1986
46
Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family. (3703490)
1986
47
Cone-rod dystrophy. A clinical and histopathologic report. (3808606)
1986
48
Progressive cone dystrophy associated with low alpha-L-fucosidase activity in serum and leukocytes. (4014393)
1985
49
Supernormal scotopic ERG in cone dystrophy. (6607068)
1984
50
Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. (6601944)
1983

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:01829810.2OPN1LW, 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 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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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