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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GLA
Location Xq22.11
Name diffuse angiokeratoderma, Fabry disease
Other name(s)
  • Anderson-Fabry disease . hereditary dystopic lipidosis
  • Corresponding gene GLA
    Main clinical features
  • characterized by pain at onset, vessel ectasia (angiokeratoma) in skin and mucous membranes, hypohidrosis associated with corneal and lenticular opacities, and later proteinuria and progressive renal failure
  • Genetic determination sex linked
    Prevalence 1 in 40,000 males
    Related entries an atypical mild variant characterized by cardiomoypathy
    Function/system disorder metabolism/lysosomal
    cardiovascular
    dermatology
    Type disease
    Gene product
    Name galactosidase, alpha (GLA)