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Fabry disease

Disease definition

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

ORPHA:324

  • Synonym(s):
    • Alpha-galactosidase A deficiency
    • Anderson-Fabry disease
    • Angiokeratoma corporis diffusum
    • Diffuse angiokeratoma
    • FD
  • Prevalence: 1-5 / 10 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E75.2
  • OMIM: 301500
  • UMLS: C0002986
  • MeSH: D000795
  • GARD: 6400
  • MedDRA: 10016016

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