KEGG   VARIANT: 3897v1
Entry
3897v1                      Variant                                
Name
L1CAM mutation
Type
Loss of function
Gene
L1CAM  neural cell adhesion molecule L1 isoform 1 precursor [KO:K06550]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 308840
Network
nt06546  IgSF CAM signaling
Disease
H00266  Hereditary spastic paraplegia
H01034  L1 syndrome
H02178  MASA syndrome
H02458  Hydrocephalus due to congenital stenosis of aqueduct of Sylvius
Reference
PMID:16650080
  Authors
Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE
  Title
Expanding the phenotypic spectrum of L1CAM-associated disease.
  Journal
Clin Genet 69:414-9 (2006)
DOI:10.1111/j.1399-0004.2006.00607.x
Reference
PMID:7920659
  Authors
Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
  Title
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
  Journal
Nat Genet 7:402-7 (1994)
DOI:10.1038/ng0794-402
LinkDB

DBGET integrated database retrieval system