DISEASE: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Entry
H01115 Disease
Name
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Description
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Mutations in the ABHD12 gene cause PHARC disease.