| H00816 | |
| H番号 | H00816 |
| 名称 | 末梢神経障害を伴う脳梁欠損 |
| 概要 | Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, progressive peripheral neuropathy caused by axonal degeneration, and complete or partial agenesis of the corpus callosum. ACCPN is found in French Canadian population and could be resulted from a single founder mutation. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SLC12A6 [HSA:9990] [KO:K14427] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.Y ICD-10: G60.0 MeSH: C536446 OMIM: 218000 |
| 文献 | PMID:12368912 著者 Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA タイトル The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 雑誌 Nat Genet 32:384-92 (2002) DOI:10.1038/ng1002 PMID:8554065 著者 Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA タイトル The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. 雑誌 Am J Hum Genet 58:28-34 (1996) |