PHARC Syndrome

About the Disease
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract, also known as pharc syndrome, is related to usher syndrome, type iiia and usher syndrome, and has symptoms including ataxia, muscle spasticity and action tremor. An important gene associated with Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract is ABHD12 (Abhydrolase Domain Containing 12, Lysophospholipase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Effects of PIP2 hydrolysis. Affiliated tissues include eye and brain, and related phenotypes are spasticity and ataxia

Common Targets
ABHD12

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