International Fabry Disease Genotype-Phenotype Database (dbFGP)

Fabry Disease

The Mount Sinai Fabry Disease Tutorial The Mount Sinai Fabry Disease Tutorial provides easy-to-understand information about Fabry disease for patients, family members and healthcare providers. It includes information about the different types of Fabry disease, signs and symptoms, genetics and inheritance, and treatment options. To view the Mount Sinai Fabry Disease Tutorial, please click here.
The National Organization for Rare Disorders on Fabry Disease The National Organization for Rare Disorders, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 230 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. One of its many services is providing information for patients, families and healthcare professionals in print and on-line on rare disorders, including Fabry disease.
To provide information for patients and their physicians, including guidance for the accurate diagnosis of males and females and testing of at-risk family members, description of the two major phenotypic subtypes, and expert-based recommendations for phenotype- and sex-specific medical management and therapy, an international group of FD experts convened to generate consensus recommendations in providing phenotype-specific information and recommendations for male and female patients and their non-Fabry expert physicians. These consensus recommendations are provided for physicians, patients and family members in understandable language.