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References OMIM Gene GeneReviews HGMD HGNC
last update : 16/09/2006
Symbol GLB1A
Location 3p22.3
Name gangliosidosis, generalized GM1, type III, or adult type
Corresponding gene GLB1
Main clinical features
  • angiokeratoma beginning in infancy, cerebellar dysfunction and diminishing vision, myoclonic fits, intellectual deterioration and coarsening of the face beginning at age adult
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name galactosidase, beta 1 (GLB1)