Cone-Rod Dystrophy 16 (CORD16)

Alias:
Retinal Dystrophy with Early Macular Involvement
Retinitis Pigmentosa 64
Cord16
Dystrophy, Cone-Rod, Type 16 , Retinitis Pigmentosa, Type 64
Rp64
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cone-Rod Dystrophy 16, also known as retinal dystrophy with early macular involvement, is related to fundus dystrophy and cone-rod dystrophy 21. An important gene associated with Cone-Rod Dystrophy 16 is CFAP418 (Cilia And Flagella Associated Protein 418), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include retina and bone, and related phenotypes are attenuation of retinal blood vessels and optic disc pallor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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26
144
7

Medical Symptom

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Description
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Gene & Mutation

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MGI
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Publications
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References Literature

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