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CORD2
MCID: CNR004
MIFTS: 63
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Cone-Rod Dystrophy 2 (CORD2)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cone-Rod Dystrophy 2:
Characteristics:HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
34
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NIH Rare Diseases
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54
Cone-rod dystrophy (CRD) is a group of inheritedeye disorders that affect the light sensitive cells of the retina called the cones and rods. People with this condition experience vision loss over time as the cones and rods deteriorate. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) and abnormal sensitivity to light (photophobia). These signs are usually followed by blind spots in the central field of vision (scotomas), loss of color perception, and loss of peripheral vision. Most individuals with this condition are legally blind by mid adulthood.
There are over 30 types of CRD caused by mutations in several different genes that can be inherited in many different ways including autosomal recessive, autosomal dominant, X-linked or mitochondrial patterns. CRDs are usually non-syndromic, but they may also be part of several syndromes. There is no cure for CRD; however, there may be ways to slow the disease process. Depending on the underlying cause of CRD and other associated symptoms, research may be ongoing to try to identify an effective treatment.
MalaCards based summary : Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to cone-rod dystrophy 7 and cone-rod dystrophy 9. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Antioxidants and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are blindness and nyctalopia Disease Ontology : 12 A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. Genetics Home Reference : 26 Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. OMIM : 58 Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). (120970) UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 2: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. Wikipedia : 77 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more... |
Human phenotypes related to Cone-Rod Dystrophy 2:33 (show all 6)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:120970MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:47
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Drugs for Cone-Rod Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:(show all 13)
Cell-based therapeutics:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cone-Rod Dystrophy 2 cell therapies
at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cone-Rod Dystrophy 2:
Embryonic/Adult Cultured Cells Related to Cone-Rod Dystrophy 2:
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MalaCards organs/tissues related to Cone-Rod Dystrophy 2:42
Retina,
Eye,
Bone,
Testes
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Cone-Rod Dystrophy 2:
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Articles related to Cone-Rod Dystrophy 2:(show top 50) (show all 209)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 2:76
ClinVar genetic disease variations for Cone-Rod Dystrophy 2:6 (show all 39)
Copy number variations for Cone-Rod Dystrophy 2 from CNVD:7
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Search
GEO
for disease gene expression data for Cone-Rod Dystrophy 2.
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Cellular components related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:
Biological processes related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:
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