| H00776 | |
| H番号 | H00776 |
| 名称 | 先天性眼振 |
| 概要 | Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occurs independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (NYS1) FRMD7 [HSA:90167] [KO:K23971] (NYS6) GPR143 [HSA:4935] [KO:K08470] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C84.1 ICD-10: H55 MeSH: C580539 OMIM: 310700 300814 |
| 文献 | PMID:17397053 著者 Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL タイトル Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 雑誌 Hum Mutat 28:525 (2007) DOI:10.1002/humu.9492 PMID:22065086 著者 Xiao X, Li S, Guo X, Zhang Q タイトル A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692. 雑誌 Hum Genet 131:697-702 (2012) DOI:10.1007/s00439-011-1113-7 PMID:21423867 著者 Hu J, Liang D, Xue J, Liu J, Wu L タイトル A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. 雑誌 Mol Vis 17:715-22 (2011) |