KEGG   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.
Category
Neurodegenerative disease
Gene
ABHD12 [HSA:26090] [KO:K13704]
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
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