H01115 | |
H number | H01115 |
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. |
Category | Neurodegenerative disease |
Network | - |
Gene | ABHD12 [HSA:26090] [KO:K13704] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | MeSH: C567203 OMIM: 612674 |
Reference | PMID:20797687 AUTHORS Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM TITLE Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. JOURNAL Am J Hum Genet 87:410-7 (2010) DOI:10.1016/j.ajhg.2010.08.002 |