CORD6
MCID: CNR007
MIFTS: 53
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Cone-Rod Dystrophy 6 (CORD6)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cone-Rod Dystrophy 6:
Characteristics:OMIM:56
Miscellaneous:
age-dependent penetrance onset in the first to sixth decade of life progressive deterioration of central vision intrafamilial variability in severity
Inheritance:
autosomal dominant autosomal recessive (in 1 family) HPO:31
cone-rod dystrophy 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Onset and clinical course childhood onset age-dependent penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Neuronal diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Cone-rod dystrophy 6: 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.
MalaCards based summary : Cone-Rod Dystrophy 6, also known as retinal cone dystrophy 2, is related to cone dystrophy 3 and newfoundland rod-cone dystrophy. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Mitogens and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are visual impairment and abnormality of retinal pigmentation Disease Ontology : 12 A cone-rod dystrophy that has material basis in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. |
Human phenotypes related to Cone-Rod Dystrophy 6:58 31 (show all 12)
GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:26 (show all 11)
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Drugs for Cone-Rod Dystrophy 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
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MalaCards organs/tissues related to Cone-Rod Dystrophy 6:40
Eye,
Retina,
Bone
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Articles related to Cone-Rod Dystrophy 6:(show all 31)
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ClinVar genetic disease variations for Cone-Rod Dystrophy 6:6 (show top 50) (show all 162)
UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 6:73
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Search
GEO
for disease gene expression data for Cone-Rod Dystrophy 6.
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Cellular components related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:
Biological processes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:
Molecular functions related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:
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