Cone-Rod Dystrophy 2 (CORD2)

Alias:

Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy

Retinal Cone-Rod Dystrophy

Cord2

Cone-Rod Retinal Dystrophy-2

Cone-Rod Retinal Dystrophy 2

Tapetoretinal Degeneration

Cone Rod Dystrophy

Rcrd2

Cord

Crd2

Crd

Progressive Cone-Rod Dystrophy

Retinal Cone-Rod Dystrophy 2

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa 2

Cone-Rod Degeneration

Retinitis Pigmentosa

Dystrophy, Cone-Rod

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to cone-rod dystrophy 3 and cone-rod dystrophy 16. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Bardet-Biedl syndrome and Ciliopathies. The drugs Vitamin A and DL-alpha-Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include Eye and spinal cord, and related phenotypes are abnormality of retinal pigmentation and photophobia

Related ID：

MALACARDS：CNR004

OMIM：120970

MESH：D058499