Retinitis Pigmentosa 17 (RP17)

Alias:

Rp17

Retinitis Pigmentosa, Type 17

Retinitis Pigmentosa-17

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Retinitis Pigmentosa 17, also known as rp17, is related to retinitis and cone-rod dystrophy 2. An important gene associated with Retinitis Pigmentosa 17 is CA4 (Carbonic Anhydrase 4), and among its related pathways/superpathways is Lactate shuttle in glial cells. Affiliated tissues include retina and eye, and related phenotypes are photophobia and nyctalopia

Related ID：

MALACARDS：RTN046

OMIM：600852

MESH：C563437