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GENATLAS PHENOTYPE
last update : 18-06-2010
Symbol FUCA1D
Location 1p36.11
Name fucosidosis
Corresponding gene FUCA1
Main clinical features
  • lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues with neurologic deterioration, growth retardation, visceromegaly, and seizures in the severe early form, coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in the longer surviving form
  • psychomotor retardation, gargoyle features, and angiokeratoma with abnormalities in macrophages, endothelial cells, fibroblasts, and Schwann cells on rectal
  • difficulty in degrading fucose-containing blood group H and Lewis substances
  • Genetic determination autosomal recessive
    Related entries an unusual spondylometaphyseoepiphyseal dysplasia
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name fucosidase, alpha-L-1, tissue (FUCA1)
    Remark(s)
  • MR spectroscopy, in the setting of typical clinical and imaging features, is characteristic for this rare disorder (Mamourian 2010)