International Fabry Disease Genotype-Phenotype Database (dbFGP)

established and maintained by
The Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences
New York, New York 10029
Phone: ; Fax: ; Email: [email protected]; URL: dbFGP.org

A web-based database of genotype and phenotype information consolidating data from peer-reviewed publications, known databases,
and available patient clinical and biochemical findings to provide healthcare providers and patients with
comprehensive information about Fabry disease.

1. Genotype information:
• Nucleotide change:
• Exon(s)/Intron(s) involved:
• Amino acid change:
• HGMD accession:
• Mutation Type:
2. Likely phenotype:
3. Important Mutation-Specific References:
   
   
4. α-Galactosidase A Activity in Affected Males and Heterozygous Females:
   
   
5. Phenotype-Specific Clinical Manifestations:
   
6. Phenotype-Specific Recommendations for Medical Management and Testing At-Risk Family Members: