CORD5
MCID: CNR002
MIFTS: 46

Cone-Rod Dystrophy (CORD5) malady

Summaries for Cone-Rod Dystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 bone marrow and retina, 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:47 613660, 610283, 610381, 600977, 604116 304020, 612775, 602093, 612657, 603649, 608194, 601777, 120970 more

Aliases & Classifications for Cone-Rod Dystrophy

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 31LifeMap Discovery™, 61UMLS
See all sources

Aliases & Descriptions:

cone-rod dystrophy 8 9 43 31
cone-rod dystrophy 5 8 9 43 20 22 47 61
progressive cone-rod dystrophy 61
cone-rod retinal dystrophy 8
retinitis pigmentosa 61
cord5 43


Related Diseases for Cone-Rod Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 465)
idRelated DiseaseScoreTop Affiliating Genes
1cone-rod dystrophy 231.0GUCY2D, PITPNM3, CRX, PRPH2, CNNM4, RIMS1
2stargardt disease30.9CRX, ABCA4
3blindness30.7RPGR, RPGRIP1, GUCY2D, CRX, ABCA4
4leber congenital amaurosis30.7RPGR, RPGRIP1, GUCA1A, GUCY2D, CRX, ABCA4
5retinitis pigmentosa 330.6RPGR
6rhyns syndrome30.3RPGR, RPGRIP1, GUCY2D, CRX, PRPH2, ABCA4
7bardet-biedl syndrome30.3RPGRIP1
8cone dystrophy11.3
9retinitis pigmentosa10.8
10cone-rod dystrophy x-linked 110.7
11usher syndrome10.7
12cystoid macular edema10.7
13amelogenesis imperfecta10.6
14cone-rod dystrophy amelogenesis imperfecta10.6
15spondylometaphyseal dysplasia with cone-rod dystrophy10.6
16neuropathy ataxia retinitis pigmentosa syndrome10.6
17cone-rod dystrophy 310.6
18cone-rod dystrophy x-linked 310.6
19cone-rod dystrophy 610.6
20cone-rod dystrophy 1210.6
21cone-rod dystrophy 710.6
22cone-rod dystrophy 1110.6
23cone-rod dystrophy 1510.6
24cone-rod dystrophy 1310.6
25macular dystrophy10.6
26posterior column ataxia with retinitis pigmentosa10.5
27cone-rod dystrophy 110.5
28cone-rod dystrophy 910.5
29cone-rod dystrophy 1610.5
30retinitis pigmentosa 1710.5
31retinitis pigmentosa 210.5
32retinitis pigmentosa 1910.5
33autosomal dominant disease10.5
34autosomal recessive disease10.5
35cone-rod dystrophy x-linked 210.5
36stargardt disease, autosomal recessive10.5
37cone dystrophy 310.5
38ataxia10.5
39cone-rod dystrophy 810.5
40cone-rod dystrophy 1010.5
41posterior column ataxia10.4
42retinitis pigmentosa, digenic10.4
43usher syndrome type i10.4
44muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
45retinitis pigmentosa 1110.4
46retinitis pigmentosa, juvenile10.4
47x-linked intellectual disability-retinitis pigmentosa syndrome10.4
48danon disease10.4
49megaloblastic anemia10.4
50unc119-related cone-rod dystrophy10.4

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



Diseases related to cone-rod dystrophy

Clinical Features for Cone-Rod Dystrophy

Sources:
47OMIM
See all sources

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cone-Rod Dystrophy:

33
Bone marrow, Retina

Animal Models for Cone-Rod Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cone-Rod Dystrophy:

37
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

Genetic Variations for Cone-Rod Dystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cone-Rod Dystrophy:

63
id Symbol AA change Variation SNP ID
1PITPNM3p.Gln626HisVAR_046787rs76024428

Expression for genes affiliated with Cone-Rod Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome
See all sources

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

Sources:
45Novoseek, 29IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1cgmp45 2911.3GUCY2D, GUCA1A, RPGR
2amp-pnp45 2911.1GUCY2D, GUCA1A

GO Terms for genes affiliated with Cone-Rod Dystrophy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cone-Rod Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet