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GENATLAS PHENOTYPE
last update : 08-11-2023
Symbol GLAD
Location Xq22.11
Name diffuse angiokeratoderma, Fabry disease, GLA deficiency
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)
    Remark(s)
  • GLA nucleoside-modified messenger RNA (modRNA) is likely a treatment for cardiac-related pathology in Fabry disease (PMID: 37607539))
  • loss of GLA function results in profound changes of cellular pathways, which are ubiquitously in different cell types (PMID: 34768768))