CORD5
MCID: CNR002
MIFTS: 58

Cone-Rod Dystrophy (CORD5) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Cone-Rod Dystrophy

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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 based summary: Cone-Rod Dystrophy, also known as cone-rod dystrophy 5, is related to stargardt disease and cone-rod dystrophy 2, and has symptoms including 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 compound Cyclic GMP have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related mouse phenotypes are pigmentation and nervous system.

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.

Descriptions from OMIM:46 601777, 615374, 608194, 604116, 610381 612657, 300476, 607476, 605549, 614500, 615163, 603649, 600624, 600977, 615860, 120970, 300085, 602093, 615973, 304020, 613660, 612775, 610283 more

Aliases & Classifications for Cone-Rod Dystrophy

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Cone-Rod Dystrophy, Aliases & Descriptions:

Name: Cone-Rod Dystrophy 30 8 9 42
Cone-Rod Dystrophy 5 8 9 42 20 22 46 62
Progressive Cone-Rod Dystrophy 62
 
Cone-Rod Retinal Dystrophy 8
Retinitis Pigmentosa 62
Cord5 42


Classifications:

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


Related Diseases for Cone-Rod Dystrophy

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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 71)
idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease31.4ABCA4, CRX
2cone-rod dystrophy 231.3CRX, RIMS1, PITPNM3, GUCY2D, ADAM9, CNNM4
3leber congenital amaurosis31.2GUCY2D, CRX, PDE6B
4retinal degeneration29.7GUCY2D, CRX, PDE6B, ROM1, BEST1, PRCD
5rhyns syndrome29.1CRX, PDE6B, ROM1, SNRNP200, TOPORS, EYS
6retinitis10.9
7spondylometaphyseal dysplasia with cone-rod dystrophy10.8
8retinitis pigmentosa10.8
9cone-rod dystrophy x-linked 110.8
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 1610.6
20cone-rod dystrophy 1510.6
21cone-rod dystrophy 1310.6
22cone-rod dystrophy 110.6
23cone-rod dystrophy x-linked 210.5
24ataxia10.5
25cone-rod dystrophy 810.5
26cone-rod dystrophy 1010.5
27cone-rod dystrophy 1410.5
28cone-rod dystrophy 1710.5
29megaloblastic anemia10.4
30danon disease10.4
31myopia10.4
32cone dystrophy 310.4
33unc119-related cone-rod dystrophy10.4
34prph2-related cone-rod dystrophy10.4
35cone-rod dystrophy 410.4
36cone-rod dystrophy 1810.4
37cone-rod dystrophy 2010.4
38cone-rod dystrophy 1910.4
39best vitelliform macular dystrophy10.4BEST1
40duane retraction syndrome10.4
41achondroplasia10.4
42partial central choroid dystrophy10.4GUCY2D, RIMS1
43fundus flavimaculatus10.3ROM1, ABCA4
44cone dystrophy10.3
45night blindness10.3PDE6B, ABCA4
46achromatopsia10.3
47alopecia10.3
48cataract10.3
49hereditary ataxia10.3
50keratoconus10.3

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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Symptoms by clinical synopsis from OMIM:

600977

Clinical features from OMIM:

601777, 615374, 608194, 604116, 610381, 612657, 300476, 607476, 605549, 614500 615163, 603649, 600624, 600977, 615860, 120970, 300085, 602093, 615973, 304020, 613660, 612775, 610283 more

HPO human phenotypes related to Cone-Rod Dystrophy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of color vision HP:0000551
3 macular degeneration HP:0000608
4 photophobia HP:0000613
5 progressive central visual loss HP:0008008

Drugs & Therapeutics for Cone-Rod Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Cone-Rod Dystrophy

Search NIH Clinical Center 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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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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MalaCards organs/tissues related to Cone-Rod Dystrophy:

32
Eye, Retina, Bone, Testes

Animal Models for Cone-Rod Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Cone-Rod Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1ABCA4, SEMA4A, BEST1, PDE6B, CRX
2MP:00036318.5GPR98, USH2A, GUCY2D, SEMA4A, ROM1, PDE6B
3MP:00053918.1CRX, ABCA4, GPR98, USH2A, GUCY2D, SEMA4A

Publications for Cone-Rod Dystrophy

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Articles related to Cone-Rod Dystrophy:

(show top 50)    (show all 172)
idTitleAuthorsYear
1
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. (24387991)
2014
2
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. (24778606)
2014
3
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. (25052312)
2014
4
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. (23776498)
2013
5
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography. (23758497)
2013
6
Macular Cysts in Clinical Cone-rod Dystrophy. (24001016)
2013
7
Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. (24008410)
2013
8
CRX variants in cone-rod dystrophy and mutation overview. (22960069)
2012
9
RPGRIP1 and cone-rod dystrophy in dogs. (22183349)
2012
10
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. (22264887)
2012
11
Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy. (23251588)
2012
12
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. (21464903)
2011
13
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. (21405999)
2011
14
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. (20806078)
2010
15
Spondylometaphyseal dysplasia with cone-rod dystrophy. (20141353)
2010
16
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
17
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
18
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (19200525)
2009
19
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. (18285826)
2008
20
Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy. (17180612)
2007
21
High-resolution retinal imaging of cone-rod dystrophy. (16650474)
2006
22
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. (16896346)
2006
23
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
24
Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray. (17200655)
2006
25
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. (16644365)
2006
26
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. (15734019)
2005
27
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. (15665353)
2005
28
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. (15175914)
2004
29
Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. (15064680)
2004
30
Spondylometaphyseal dysplasia with cone-rod dystrophy. (15326626)
2004
31
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. (15531334)
2004
32
Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1. (14750595)
2004
33
The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. (15254014)
2004
34
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. (12796258)
2003
35
Cone-rod dystrophy in thiamine-responsive megaloblastic anemia. (12691235)
2003
36
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). (12659814)
2003
37
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. (12359607)
2002
38
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene. (11846518)
2001
39
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. (11580893)
2001
40
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. (11565546)
2001
41
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. (10430891)
1999
42
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. (9683616)
1998
43
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. (9618177)
1998
44
Autosomal dominant cone-rod dystrophy with negative electroretinogram. (7488580)
1995
45
Clinical subtypes of cone-rod dystrophy. (8512479)
1993
46
Progressive cone-rod dystrophy and high myopia in a Finnish family. (2763809)
1989
47
Blood-retinal barrier function in patients with cone or cone-rod dystrophy. (3954658)
1986
48
Vitreous fluorophotometry in patients with cone-rod dystrophy. (6733074)
1984
49
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. (6940444)
1981
50
Cone-rod dystrophy: a case report. (313711)
1978

Variations for Cone-Rod Dystrophy

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

64
id Symbol AA change Variation ID SNP ID
1PITPNM3p.Gln626HisVAR_046787rs76024428

Clinvar genetic disease variations for Cone-Rod Dystrophy:

6 (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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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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Pathways related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8PDE6B, GUCY2D, ABCA4

Compounds for genes affiliated with Cone-Rod Dystrophy

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Compounds related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Cyclic GMP2410.1PDE6B, GUCY2D

GO Terms for genes affiliated with Cone-Rod Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1stereocilia ankle link complexGO:0021429.7USH2A, GPR98
2photoreceptor disc membraneGO:0973819.7PDE6B, GUCY2D, ABCA4
3integral component of membraneGO:0160218.3GPR98, USH2A, SEMA4A, ADAM9, PRCD, BEST1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1retina development in camera-type eyeGO:06004110.2CRX, PDE6B
2maintenance of organ identityGO:04849610.2USH2A, GPR98
3sensory perception of light stimulusGO:05095310.1USH2A, GPR98
4detection of light stimulus involved in visual perceptionGO:05090810.1BEST1, EYS
5regulation of rhodopsin mediated signaling pathwayGO:02240010.0PDE6B, GUCY2D
6photoreceptor cell maintenanceGO:0454949.9ABCA4, GPR98, USH2A
7phototransduction, visible lightGO:0076039.9ABCA4, GUCY2D, PDE6B
8rhodopsin mediated signaling pathwayGO:0160569.8PDE6B, GUCY2D
9response to stimulusGO:0508969.2USH2A, PRCD, CNNM4, CRX, RAX2, RIMS1
10visual perceptionGO:0076017.8IMPG2, ABCA4, GPR98, USH2A, GUCY2D, PRCD

Molecular functions related to Cone-Rod Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:01702210.0USH2A, GPR98

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet