CCMD
MCID: MCL057
MIFTS: 31
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Macular Dystrophy with Central Cone Involvement (CCMD)
Categories:
Eye diseases, Genetic diseases
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MalaCards integrated aliases for Macular Dystrophy with Central Cone Involvement:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset of symptoms in third to sixth decade of life HPO:31Classifications: |
UniProtKB/Swiss-Prot :
73
Macular dystrophy with central cone involvement: An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels.
MalaCards based summary : Macular Dystrophy with Central Cone Involvement, also known as ccmd, is related to borderline personality disorder and personality disorder. An important gene associated with Macular Dystrophy with Central Cone Involvement is MFSD8 (Major Facilitator Superfamily Domain Containing 8). The drugs Haloperidol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are optic disc pallor and bull's eye maculopathy
More information from OMIM:
616170
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Diseases related to Macular Dystrophy with Central Cone Involvement via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Macular Dystrophy with Central Cone Involvement:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616170 |
Drugs for Macular Dystrophy with Central Cone Involvement (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:
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MalaCards organs/tissues related to Macular Dystrophy with Central Cone Involvement:40
Eye,
Testes,
Brain,
Thalamus,
Temporal Lobe
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Articles related to Macular Dystrophy with Central Cone Involvement:(show top 50) (show all 81)
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ClinVar genetic disease variations for Macular Dystrophy with Central Cone Involvement:6
UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy with Central Cone Involvement:73
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Search
GEO
for disease gene expression data for Macular Dystrophy with Central Cone Involvement.
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