| H01034 | |
| H番号 | H01034 |
| 名称 | L1 症候群 |
| 概要 | L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and X-linked partial agenesis of corpus callosum. L1CAM encodes for the L1 cell adhesion molecule (L1-CAM), a member of the immunoglobulin (Ig) superfamily of neural cell adhesion molecules that is expressed in the developing nervous system. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | L1CAM [HSA:3897] [KO:K06550] |
| 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: Q04.8 MeSH: C536029 OMIM: 307000 303350 304100 |
| 文献 | PMID:20447653 著者 Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML タイトル Novel mutations in the L1CAM gene support the complexity of L1 syndrome. 雑誌 J Neurol Sci 294:124-6 (2010) DOI:10.1016/j.jns.2010.03.030 PMID:20301657 著者 Schrander-Stumpel C, Vos YJ タイトル L1 Syndrome 雑誌 GeneReviews (1993) PMID:11438988 著者 Weller S, Gartner J タイトル Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 雑誌 Hum Mutat 18:1-12 (2001) DOI:10.1002/humu.1144 |