KEGG DISEASE: L1 syndrome

KEGG

DISEASE: L1 syndrome

Entry

H01034                      Disease

Name

L1 syndrome

Subgroup

Hereditary spastic paraplegia
X-linked hydrocephalus [DS:H02458]
MASA syndrome [DS:H02178]
X-linked partial agenesis of the corpus callosum

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H01034  L1 syndrome

Pathway

Axon guidance

Cell adhesion molecules

Gene

L1CAM [HSA:3897] [KO:K06550]

Other DBs

ICD-11:

MeSH:

OMIM:

307000 303350 304100

Reference

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

Reference

Authors

Schrander-Stumpel C, Vos YJ

Title

L1 Syndrome

Journal

GeneReviews (1993)

Reference

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

LinkDB

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