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
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387991)
2014
2
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387990)
2014
3
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. (23776498)
2013
4
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography. (23758497)
2013
5
Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration. (24039390)
2013
6
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. (24024198)
2013
7
Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D. (23686677)
2013
8
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. (21405999)
2011
9
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. (21496248)
2011
10
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. (20806078)
2010
11
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. (20554613)
2010
12
Optical coherence tomography findings in a case of cone-rod dystrophy. (21117575)
2010
13
Genetic testing and clinical characterization of patients with cone-rod dystrophy. (21123796)
2010
14
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. (20706282)
2010
15
Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy. (19406377)
2009
16
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. (18285826)
2008
17
Functional and structural changes in the retina of wire-haired dachshunds with early-onset cone-rod dystrophy. (18326738)
2008
18
Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. (17962389)
2008
19
Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund. (17724213)
2007
20
Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund. (17324160)
2007
21
High-resolution retinal imaging of cone-rod dystrophy. (16650474)
2006
22
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
23
Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray. (17200655)
2006
24
Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes. (16897189)
2006
25
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. (15734019)
2005
26
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. (15665353)
2005
27
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. (15953638)
2005
28
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). (15790869)
2005
29
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. (15019334)
2004
30
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family. (15017103)
2004
31
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. (12796258)
2003
32
Cone-rod dystrophy in thiamine-responsive megaloblastic anemia. (12691235)
2003
33
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). (12659814)
2003
34
A new genetic locus for X linked progressive cone-rod dystrophy. (12807962)
2003
35
The ABCA4 gene in autosomal recessive cone-rod dystrophies. (12515255)
2002
36
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. (11565546)
2001
37
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy. (10874321)
2000
38
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (10958761)
2000
39
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. (10647719)
2000
40
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. (11006213)
2000
41
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. (10430891)
1999
42
Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. (10529237)
1999
43
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. (9618177)
1998
44
Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. (9443860)
1998
45
Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. (8912967)
1996
46
Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. (8508343)
1993
47
Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. (1867279)
1991
48
Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family. (3703490)
1986
49
Temporal aspects of the electroretinogram in cone-rod dystrophy. (4042829)
1985
50
Dominant cone-rod dystrophy. (1201699)
1975

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
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36MGI
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40NDF-RT
43NINDS
44Novoseek
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