| H01034 | |
| H number | H01034 |
| Name | L1 syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | L1CAM [HSA:3897] [KO:K06550] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD20.Y ICD-10: Q04.8 MeSH: C536029 OMIM: 307000 303350 304100 |
| Reference | PMID:20447653 AUTHORS Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML TITLE Novel mutations in the L1CAM gene support the complexity of L1 syndrome. JOURNAL J Neurol Sci 294:124-6 (2010) DOI:10.1016/j.jns.2010.03.030 PMID:20301657 AUTHORS Schrander-Stumpel C, Vos YJ TITLE L1 Syndrome JOURNAL GeneReviews (1993) PMID:11438988 AUTHORS Weller S, Gartner J TITLE Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. JOURNAL Hum Mutat 18:1-12 (2001) DOI:10.1002/humu.1144 |