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GENATLAS PHENOTYPE
last update : 04-04-2012
Symbol HSAS
Location Xq28
Name X-linked hydrocephalus, or stenosis of the aqueduct of Sylvius
Other name(s) L1- disease
Corresponding gene L1CAM
Other symbol(s) XLH, HYCX, XLAS, HSAS1
Main clinical features
  • with a variable association of congenital hydrocephalus, adducted thumbs, agenesis of corpus callosum, spastic paraplegia, and mental retardation
  • association of hydrocephalus with Hirschsprung disease likely represent the severe end of X-linked hydrocephalus spectrum.
    • Genetic determination sex linked
    Prevalence up to 25% of aqueductal obstruction in males ,1/30.000 male births
    Related entries MASA, SPG1
    Function/system disorder neurology
    Type malformation
    Gene product
    Name L1 neural cell adhesion molecule (L1CAM), cell adhesion molecule in nervous and enteric systems
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     with a majority of nonsense, framshift and splice site mutations
    Remark(s)
    Genotype/Phenotype correlations inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, and several patients have a combination of L1CAM mutations and Hirschsprung's disease (HSCR); contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus