CORD5
MCID: CNR002
MIFTS: 53

Cone-Rod Dystrophy (CORD5) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Cone-Rod Dystrophy

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 Diseases associated with visual transduction. The compounds retinoid and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related mouse phenotypes are vision/eye and nervous system.

Disease Ontology:9 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:48 604116, 603649, 120970, 601777, 610381 602093, 612775, 600977, 610283, 304020, 613660, 612657, 608194 more

Aliases & Classifications for Cone-Rod Dystrophy

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Sources:
63UMLS, 9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 32LifeMap Discovery™, 21GeneTests, 23GTR, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

cone-rod dystrophy 9 10 44 32
cone-rod dystrophy 5 9 10 44 21 23 48 63
progressive cone-rod dystrophy 63
cone-rod retinal dystrophy 9
retinitis pigmentosa 63
cord5 44


Related Diseases for Cone-Rod Dystrophy

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18GeneCards, 19GeneDecks
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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 63)
idRelated DiseaseScoreTop Affiliating Genes
1cone-rod dystrophy 230.8PITPNM3, ABCA4, RIMS1, CRX, C8orf37, GUCY2D
2stargardt disease30.8CRX, ABCA4
3leber congenital amaurosis30.6GUCY2D, CRX
4retinal degeneration30.5CRX, GUCY2D, ABCA4
5rhyns syndrome30.2CRX, ABCA4, GUCY2D
6retinitis10.9
7spondylometaphyseal dysplasia with cone-rod dystrophy10.8
8retinitis pigmentosa10.8
9cone-rod dystrophy x-linked 110.7
10cone-rod dystrophy 310.7
11amelogenesis imperfecta10.7
12cone-rod dystrophy amelogenesis imperfecta10.7
13cone-rod dystrophy x-linked 310.6
14cone-rod dystrophy 910.6
15cone-rod dystrophy 610.6
16cone-rod dystrophy 1210.6
17cone-rod dystrophy 710.6
18cone-rod dystrophy 1110.6
19cone-rod dystrophy 1510.6
20cone-rod dystrophy 1310.6
21cone-rod dystrophy 110.5
22cone-rod dystrophy 1610.5
23cone-rod dystrophy x-linked 210.5
24cone dystrophy 310.5
25ataxia10.5
26cone-rod dystrophy 810.5
27cone-rod dystrophy 1010.5
28danon disease10.4
29megaloblastic anemia10.4
30unc119-related cone-rod dystrophy10.4
31prph2-related cone-rod dystrophy10.4
32cone-rod dystrophy 410.4
33cone-rod dystrophy 1810.4
34cone-rod dystrophy 1410.4
35cone-rod dystrophy 1710.4
36cone-rod dystrophy 1910.4
37duane retraction syndrome10.3
38achondroplasia10.3
39cone dystrophy10.3
40neurofibromatosis10.2
41bardet-biedl syndrome10.2
42cleft lip10.2
43choroiditis10.2
44nephronophthisis10.2
45alstrom syndrome10.2
46alopecia10.2
47keratoconus10.2
48myopia10.2
49spinocerebellar ataxia10.2
50hereditary ataxia10.2

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



Diseases related to cone-rod dystrophy

Symptoms for Cone-Rod Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

600977

Clinical features from OMIM:

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

Drugs & Therapeutics for Cone-Rod Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap 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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21GeneTests, 23GTR
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Genetic tests related to Cone-Rod Dystrophy:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 521 23 PITPNM3

Anatomical Context for Cone-Rod Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Cone-Rod Dystrophy:

34
Eye, Retina, Bone, Testes

Animal Models for Cone-Rod Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cone-Rod Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1CRX, GUCY2D, ABCA4
2MP:00036318.3RIMS1, CRX, GUCY2D, ABCA4

Publications for Cone-Rod Dystrophy

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Sources:
53PubMed
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Articles related to Cone-Rod Dystrophy:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387991)
2014
2
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. (23776498)
2013
3
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography. (23758497)
2013
4
Macular Cysts in Clinical Cone-rod Dystrophy. (24001016)
2013
5
Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. (24008410)
2013
6
CRX variants in cone-rod dystrophy and mutation overview. (22960069)
2012
7
RPGRIP1 and cone-rod dystrophy in dogs. (22183349)
2012
8
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. (22264887)
2012
9
Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy. (23251588)
2012
10
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. (21464903)
2011
11
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. (21405999)
2011
12
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. (20806078)
2010
13
Spondylometaphyseal dysplasia with cone-rod dystrophy. (20141353)
2010
14
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
15
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
16
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (19200525)
2009
17
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. (18285826)
2008
18
Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy. (17180612)
2007
19
High-resolution retinal imaging of cone-rod dystrophy. (16650474)
2006
20
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. (16896346)
2006
21
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
22
Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray. (17200655)
2006
23
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. (16644365)
2006
24
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. (15734019)
2005
25
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. (15665353)
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
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. (15531334)
2004
30
Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1. (14750595)
2004
31
The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. (15254014)
2004
32
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. (12796258)
2003
33
Cone-rod dystrophy in thiamine-responsive megaloblastic anemia. (12691235)
2003
34
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). (12659814)
2003
35
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. (12359607)
2002
36
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene. (11846518)
2001
37
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. (11580893)
2001
38
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. (11565546)
2001
39
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. (10430891)
1999
40
Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. (10529237)
1999
41
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. (9683616)
1998
42
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. (9618177)
1998
43
Autosomal dominant cone-rod dystrophy with negative electroretinogram. (7488580)
1995
44
Clinical subtypes of cone-rod dystrophy. (8512479)
1993
45
Progressive cone-rod dystrophy and high myopia in a Finnish family. (2763809)
1989
46
Blood-retinal barrier function in patients with cone or cone-rod dystrophy. (3954658)
1986
47
Vitreous fluorophotometry in patients with cone-rod dystrophy. (6733074)
1984
48
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. (6940444)
1981
49
Dominant progressive cone-rod dystrophy. (7315224)
1981
50
Cone-rod dystrophy: a case report. (313711)
1978

Variations for Cone-Rod Dystrophy

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy:

65
id Symbol AA change Variation ID SNP ID
1PITPNM3p.Gln626HisVAR_046787rs76024428

Clinvar genetic disease variations for Cone-Rod Dystrophy:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PITPNM3NM_031220.3(PITPNM3): c.1878G> C (p.Gln626His)single nucleotide variantPathogenicrs76024428GRCh37Chr 17, 6371557: 6371557
6RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
7USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
8USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
9USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
10USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
11TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
12PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
13RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Cone-Rod Dystrophy

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2BioGPS, 16Gene 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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51PathCards, 56Reactome
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Pathways related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6GUCY2D, ABCA4

Compounds for genes affiliated with Cone-Rod Dystrophy

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoid469.5CRX, ABCA4
2vitamin a46 25 1211.3GUCY2D, ABCA4

GO Terms for genes affiliated with Cone-Rod Dystrophy

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17Gene Ontology
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Cellular components related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:0973819.6GUCY2D, ABCA4

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

idNameGO IDScoreTop Affiliating Genes
1phototransduction, visible lightGO:0076039.6GUCY2D, ABCA4
2response to stimulusGO:0508968.5CRX, RAX2, RIMS1
3visual perceptionGO:0076017.8RIMS1, RAX2, CRX, GUCY2D, ABCA4

Products for genes affiliated with Cone-Rod Dystrophy

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Sources for Cone-Rod Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet