PHARC

PHARC

A rare, autosomal recessive neurological disorder (OMIM:612675) characterised by the clinical features of the acronym, PHARC:
▪ Polyneuropathy;
▪ Hearing loss;
▪ Ataxia;
▪ Retinitis pigmentosa; and
▪ Cataracts in one or more eyes.

Clinical findings
Sensorineural hearing loss, vision problems, pes cavus, ataxic and/or spastic gait disturbances with progressive sensorimotor peripheral neuropathy, hyporeflexia, hyperreflexia, extensor plantar responses.

Molecular pathology
PHARC is caused by a mutation of ADHD12, which encodes an enzyme that catalyses the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter acting on cannabinoid receptors CB1 and CB2.