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.
References in periodicals archive ?
96) Mutations in the human ABHD12 gene result in accumulation of LysoPS in the brain and cause a disease called PHARC, which is characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.
2013) ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.
39)) Interestingly, a neurodegenerative disease named PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract) is caused by mutations in the ABHD12 gene, indicating that ABHD12 plays important roles in the central and peripheral nervous systems and the eye.