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Genetic and Rare Diseases Information Center (GARD)

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Fabry disease

Other Names for this Disease
  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma, diffuse
  • Ceramide trihexosidase deficiency
More Names
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How is Fabry disease inherited?

Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome.  In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition.  Because females have two copies of the X chromosome, one mutated copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all.  [1]
Last updated: 7/28/2011

  1. Fabry disease. Genetics Home Reference (GHR) Web site. March 2007; Accessed 4/14/2009.