MCID: CND005
MIFTS: 43

Cone Dystrophy malady

Rare diseases, Eye diseases categories

Summaries for Cone Dystrophy

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NIH Rare Diseases:41 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 progressive cone dystrophy, is related to retinal cone dystrophy 3 and retinitis, and has symptoms including visual impairment, abnormal electroretinogram and abnormality of color vision. An important gene associated with Cone Dystrophy is GUCA1A (guanylate cyclase activator 1A (retina)), and among its related pathways are Opsins and Visual Cycle in Retinal Rods. The compounds sildenafil citrate and cilostamide have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:9 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...

Aliases & Classifications for Cone Dystrophy

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Sources:
60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 43Novoseek, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Cone Dystrophy, Aliases & Descriptions:

Name: Cone Dystrophy 9 41 47 60
Progressive Cone Dystrophy 41 43 47
Progressive Cone-Rod Dystrophy 60
 
Retinal Cone Dystrophy 9
Cone Dystrophy 3 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


External Ids:

Disease Ontology9 DOID:0050795
Orphanet47 1871
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0271092

Related Diseases for Cone Dystrophy

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1retinal cone dystrophy 331.3PDE6H
2retinitis31.1RLBP1
3achromatopsia30.1PDE6C, CNGB3, PDE6H, GNAT2
4retinal degeneration29.7RLBP1, RPGR, BEST1, GUCA1A
5cone-rod dystrophy29.6KCNV2, GUCA1A, GNAT2, RPGR, PITPNM3
6retinal cone dystrophy 3b10.5
7cone dystrophy with supernormal rod response10.5
8retinal cone dystrophy 410.5
9newfoundland rod-cone dystrophy10.5
10cone dystrophy-310.5
11cone dystrophy 410.4
12fundus albipunctatus10.4
13retinal cone dystrophy 110.4
14cone dystrophy x-linked with tapetal-like sheen10.3
15red-green color vision defects10.3OPN1LW, OPN1MW
16cone-rod dystrophy 610.3
17retinitis pigmentosa10.3
18blue cone monochromacy10.3OPN1MW, OPN1LW
19color blindness10.3PDE6H, CNGB3
20thyroid hormone resistance10.3OPN1MW, OPN1LW
21vitreoretinochoroidopathy10.2
22cone-rod dystrophy, x-linked, 110.2
23cataract10.2
24keratoconus10.2
25liver disease10.2
26leber congenital amaurosis10.1GUCA1A, RPGR
27blindness10.1RPGR, RLBP1
28congenital nystagmus10.1GNAT2, CNGB3
29leber congenital amaurosis 410.0
30retinitis pigmentosa 6910.0
31glutathione synthetase deficiency10.0
32retinoschisis10.0
33sensorineural hearing loss10.0
34pars planitis10.0
35exudative vitreoretinopathy10.0
36exotropia10.0
37neuropathy10.0
38spinocerebellar ataxia10.0
39chromosome 6q deletion10.0
40cone-rod dystrophy x-linked 210.0
41color vision deficiency10.0
42ataxia10.0
43mrcs syndrome10.0
44night blindness10.0RLBP1, RPGR
45fundus dystrophy9.7BEST1, RLBP1, GUCA1A, RPGR

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



Diseases related to cone dystrophy

Symptoms for Cone Dystrophy

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Symptoms:

 47
  • retinitis pigmentosa/retinal pigmentary changes
  • mild visual loss/impaired visual acuity
  • achromatopsia/dyschromatopsia/daltonism/impaired colour vision
  • photophobia
  • abnormal erg/electroretinogram/electroretinography
  • autosomal dominant inheritance

HPO human phenotypes related to Cone Dystrophy:

id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 abnormality of color vision hallmark (90%) HP:0000551
4 photophobia hallmark (90%) HP:0000613
5 abnormal retinal pigmentation hallmark (90%) HP:0007703

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:

31
Eye, Retina, Liver, Testes

Animal Models for Cone Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Cone Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.3PDE6C, CNGB3, RPGR, RLBP1, GNAT2, GUCA1A
2MP:00053917.2OPN1MW, GUCA1A, GNAT2, BEST1, RLBP1, RPGR

Publications for Cone Dystrophy

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Articles related to Cone Dystrophy:

(show top 50)    (show all 145)
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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Search GEO for disease gene expression data for Cone Dystrophy.

Pathways for genes affiliated with Cone Dystrophy

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Compounds for genes affiliated with Cone Dystrophy

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Compounds related to Cone Dystrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1sildenafil citrate599.9PDE6C, PDE6H
2cilostamide59 43 2811.8PDE6C, PDE6H
3(r)-(-)-rolipram599.7PDE6C, PDE6H
4Cyclic GMP249.6CNGB3, PDE6C, PDE6H
5Guanosine monophosphate249.6GNAT2, PDE6C, PDE6H
6rolipram43 59 2811.5PDE6C, PDE6H
7calcium43 49 24 1211.4PITPNM3, GUCA1A, BEST1, CNGB3, OPN1LW

GO Terms for genes affiliated with Cone Dystrophy

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Cellular components related to Cone Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00019179.9GNAT2, GUCA1A
2photoreceptor outer segment membraneGO:00426229.5OPN1LW, GNAT2
3photoreceptor outer segmentGO:00017509.2CNGB3, RPGR, GNAT2

Biological processes related to Cone Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1retinal cone cell developmentGO:00465499.9GNAT2, PDE6C
2retinoid metabolic processGO:00015239.6RLBP1, OPN1LW
3detection of light stimulus involved in visual perceptionGO:00509089.5BEST1, GNAT2
4response to stimulusGO:00508969.2PDE6H, RPGR
5phototransduction, visible lightGO:00076038.9RLBP1, GUCA1A, CNGB3, PDE6C, OPN1LW
6visual perceptionGO:00076017.1BEST1, GUCA1A, GNAT2, RLBP1, RPGR, CNGB3

Molecular functions related to Cone Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:00475559.8PDE6H, PDE6C
2cGMP bindingGO:00305539.2PDE6H, PDE6C, CNGB3

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet