Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

J Hum Genet. 2011 Jun;56(6):467-8. doi: 10.1038/jhg.2011.31. Epub 2011 Mar 17.


Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the best of our knowledge, there is no database including the structures of mutant GLAs. Herein, we constructed a database of clinical phenotypes, genotypes and structures of mutant GLAs. This database can be accessed as 'fabry-database.org', and is user friendly, being equipped with powerful computational tools. This database will help researchers and clinicians who study Fabry disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Genetic*
  • Fabry Disease / genetics*
  • Genotype
  • Humans
  • Internet
  • Mutation / genetics*
  • Phenotype*
  • User-Computer Interface
  • alpha-Galactosidase / chemistry*
  • alpha-Galactosidase / genetics*


  • alpha-Galactosidase