Retinitis Pigmentosa 12 (RP12)

Alias:

Rp12

Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium

Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium

Rp with or Without Pprpe

Retinitis Pigmentosa, with/without Pprpe, Type 12

Retinitis Pigmentosa-12

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Retinitis Pigmentosa 12, also known as rp12, is related to retinitis and leber congenital amaurosis 8. An important gene associated with Retinitis Pigmentosa 12 is CRB1 (Crumbs Cell Polarity Complex Component 1), and among its related pathways/superpathways are Complement cascade and Notch Signaling Pathway (sino). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and reduced visual acuity

Related ID：

MALACARDS：RTN042

OMIM：600105

MESH：C563999