| H01115 | |
| H番号 | H01115 |
| 名称 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | ABHD12 [HSA:26090] [KO:K13704] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | MeSH: C567203 OMIM: 612674 |
| 文献 | PMID:20797687 著者 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 タイトル Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. 雑誌 Am J Hum Genet 87:410-7 (2010) DOI:10.1016/j.ajhg.2010.08.002 |