CORD5
MCID: CNR002
MIFTS: 58

Cone-Rod Dystrophy (CORD5) malady

Summaries for Cone-Rod Dystrophy

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Cone-rod dystrophies (crds) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). in contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). these signs are usually followed by progressive loss of peripheral vision and night blindness. most cases occur due to mutations in any one of several genes, and crds can be inherited as autosomal recessive, autosomal dominant, x-linked or mitochondrial (maternally-inherited) traits. crds are usually non-syndromic, but they may also be part of several syndromes. currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness. last updated: 5/23/2011

MalaCards: Cone-Rod Dystrophy, also known as cone-rod dystrophy 5, is related to cone-rod dystrophy 2 and stargardt disease. An important gene associated with Cone-Rod Dystrophy is PITPNM3 (PITPNM family member 3), and among its related pathways is Visual phototransduction. The compounds cgmp and amp-pnp have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related mouse phenotypes are nervous system and pigmentation.

Disease Ontology:8 A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.

Description from OMIM:46 613660, 610283, 610381, 600977, 604116 304020, 612775, 602093, 612657, 603649, 608194, 601777, 120970 more

Aliases & Classifications for Cone-Rod Dystrophy

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 30LifeMap Discovery™, 60UMLS
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Aliases & Descriptions:

cone-rod dystrophy 8 9 42 30
cone-rod dystrophy 5 8 9 42 20 22 46 60
progressive cone-rod dystrophy 60
cone-rod retinal dystrophy 8
retinitis pigmentosa 60
cord5 42


Related Diseases for Cone-Rod Dystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Cone-Rod Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 462)
idRelated DiseaseScoreTop Affiliating Genes
1cone-rod dystrophy 231.0GUCY2D, PITPNM3, CRX, PRPH2, CNNM4, RIMS1
2stargardt disease30.7CRX, ABCA4
3retinal disease30.7RPGR, RPGRIP1, GUCA1A, GUCY2D, CRX, PRPH2
4night blindness30.6RPGR, ABCA4
5leber congenital amaurosis30.5RPGR, RPGRIP1, GUCA1A, GUCY2D, CRX, ABCA4
6retinitis pigmentosa 330.5RPGR
7retinal degeneration30.5RPGR, RPGRIP1, UNC119, GUCA1A, GUCY2D, CRX
8fundus dystrophy30.3ABCA4, RIMS1, CRX, RPGR, RPGRIP1, GUCA1A
9rhyns syndrome30.3RPGR, RPGRIP1, GUCY2D, CRX, PRPH2, ABCA4
10bardet-biedl syndrome30.3RPGRIP1
11cone dystrophy11.3
12retinitis10.9
13retinitis pigmentosa10.7
14macular retinal edema10.7
15cone-rod dystrophy x-linked 110.7
16usher syndrome10.7
17cystoid macular edema10.7
18spondylometaphyseal dysplasia with cone-rod dystrophy10.7
19amelogenesis imperfecta10.6
20cone-rod dystrophy amelogenesis imperfecta10.6
21neuropathy ataxia retinitis pigmentosa syndrome10.6
22cone-rod dystrophy 310.6
23cone-rod dystrophy x-linked 310.6
24cone-rod dystrophy 610.6
25cone-rod dystrophy 1210.6
26cone-rod dystrophy 710.6
27cone-rod dystrophy 1110.6
28cone-rod dystrophy 1510.6
29cone-rod dystrophy 1310.6
30posterior column ataxia with retinitis pigmentosa10.5
31cone-rod dystrophy 110.5
32cone-rod dystrophy 910.5
33cone-rod dystrophy 1610.5
34cataract10.5
35autosomal dominant disease10.4
36autosomal recessive disease10.4
37cone-rod dystrophy x-linked 210.4
38cone dystrophy 310.4
39cone-rod dystrophy 810.4
40cone-rod dystrophy 1010.4
41choroideremia10.4
42muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
43x-linked intellectual disability-retinitis pigmentosa syndrome10.4
44retinitis pigmentosa autosomal recessive10.4
45danon disease10.4
46megaloblastic anemia10.4
47unc119-related cone-rod dystrophy10.4
48prph2-related cone-rod dystrophy10.4
49cone-rod dystrophy 410.4
50cone-rod dystrophy 1810.4

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



Diseases related to cone-rod dystrophy

Clinical Features for Cone-Rod Dystrophy

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46OMIM
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Clinical features from OMIM:

613660, 610283, 610381, 600977, 604116, 304020, 612775, 602093, 612657, 603649 608194, 601777, 120970 more

Clinical synopsis from OMIM:

600977

Drugs & Therapeutics for Cone-Rod Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™
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Approved drugs:

Search CenterWatch for Cone-Rod Dystrophy

Drug clinical trials:

Search ClinicalTrials for Cone-Rod Dystrophy

Search NIH Clinical Center for Cone-Rod Dystrophy

Search CenterWatch for Cone-Rod Dystrophy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Cone-Rod Dystrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cone-Rod Dystrophy:
Bone marrow-derived stem cells for retinal diseases
Embryonic/Adult Cultured Cells Related to Cone-Rod Dystrophy:
Bone marrow-derived mononuclear cells (family), PMIDs: 23049424, 21225138, 19347139, 23000646

Genetic Tests for Cone-Rod Dystrophy

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20GeneTests, 22GTR
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Genetic tests related to Cone-Rod Dystrophy:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 520 22 PITPNM3

Anatomical Context for Cone-Rod Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Cone-Rod Dystrophy:

32
Retina, Eye, Bone, Testes

Animal Models for Cone-Rod Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cone-Rod Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.9RPGRIP1, GUCA1A, GUCY2D, CRX, PROM1, PRPH2
2MP:00011869.8UNC119, CRX, PROM1, PRPH2, ABCA4, SEMA4A
3MP:00053919.6ADAM9, RPGR, RPGRIP1, UNC119, GUCA1A, GUCY2D

Publications for Cone-Rod Dystrophy

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50PubMed
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Articles related to Cone-Rod Dystrophy:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Macular Cysts in Clinical Cone-rod Dystrophy. (24001016)
2013
2
Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. (24008410)
2013
3
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. (23746546)
2013
4
Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. (23563732)
2013
5
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. (22929024)
2013
6
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. (23472098)
2013
7
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. (24124559)
2013
8
Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. (22807295)
2012
9
Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone-rod dystrophy. (22865508)
2012
10
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. (21464903)
2011
11
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. (21552474)
2011
12
Spondylometaphyseal dysplasia with cone-rod dystrophy. (21412974)
2011
13
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. (20517349)
2010
14
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. (20805371)
2010
15
Optical coherence tomography findings in a case of cone-rod dystrophy. (22785536)
2010
16
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (19200525)
2009
17
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. (19578027)
2009
18
A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. (18687878)
2008
19
Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy. (17180612)
2007
20
Cone rod dystrophies. (17270046)
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
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. (16896346)
2006
23
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (16505158)
2006
24
De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy. (16681420)
2006
25
Cone-rod dystrophy and acquired dissociated vertical nystagmus. (15825748)
2005
26
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. (15175914)
2004
27
Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. (15064680)
2004
28
Spondylometaphyseal dysplasia with cone-rod dystrophy. (15326626)
2004
29
Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1. (14750595)
2004
30
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. (15494742)
2004
31
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. (15173235)
2004
32
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. (12920076)
2003
33
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. (12359607)
2002
34
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. (11857109)
2002
35
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. (12126946)
2002
36
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. (11146732)
2001
37
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy. (11136713)
2001
38
Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree. (10857830)
2000
39
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? (10676808)
2000
40
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. (11135496)
2000
41
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. (11053266)
2000
42
Abnormal cone synapses in human cone-rod dystrophy. (9855164)
1998
43
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. (9610810)
1998
44
Cone-rod dystrophy with serpentine-like retinal deposits. (9790628)
1998
45
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. (9390563)
1997
46
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. (8162077)
1994
47
Clinical subtypes of cone-rod dystrophy. (8512479)
1993
48
Rod increment thresholds in cone-rod dystrophy. (20548628)
1989
49
Blood-retinal barrier function in patients with cone or cone-rod dystrophy. (3954658)
1986
50
Cone-rod dystrophy: a case report. (313711)
1978

Genetic Variations for Cone-Rod Dystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cone-Rod Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1PITPNM3p.Gln626HisVAR_046787rs76024428

Expression for genes affiliated with Cone-Rod Dystrophy

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

Search GEO for disease gene expression data for Cone-Rod Dystrophy.

Pathways for genes affiliated with Cone-Rod Dystrophy

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53Reactome
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Pathways related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3ABCA4, GUCY2D, GUCA1A

Compounds for genes affiliated with Cone-Rod Dystrophy

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44Novoseek, 28IUPHAR
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Compounds related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cgmp44 2811.3GUCY2D, GUCA1A, RPGR
2amp-pnp44 2811.1GUCY2D, GUCA1A

GO Terms for genes affiliated with Cone-Rod Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00175010.3PROM1, RPGR
2photoreceptor disc membraneGO:09738110.0ABCA4, GUCY2D, GUCA1A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1retina development in camera-type eyeGO:06004110.4PRPH2, CRX, RPGRIP1
2phototransduction, visible lightGO:00760310.4GUCA1A, GUCY2D, ABCA4
3rhodopsin mediated signaling pathwayGO:01605610.4GUCY2D, GUCA1A
4eye photoreceptor cell developmentGO:04246210.3RPGRIP1, RPGR
5response to stimulusGO:05089610.3RPGR, RPGRIP1, CRX, CNNM4, RIMS1, RAX2
6photoreceptor cell maintenanceGO:04549410.3ABCA4, PROM1
7regulation of rhodopsin mediated signaling pathwayGO:02240010.1GUCY2D, GUCA1A
8visual perceptionGO:00760110.0RAX2, RPGR, RPGRIP1, UNC119, GUCA1A, GUCY2D

Products for genes affiliated with Cone-Rod Dystrophy

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Sources for Cone-Rod 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
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60UMLS
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