Synonyms: Alpha-galactosidase A deficiency | Anderson-Fabry disease | Angiokeratoma corporis diffusum | Diffuse angiokeratoma | FD
A rare genetic multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma) neurological (pain) renal (proteinuria chronic kidney failure) cardiovascular (cardiomyopathy arrhythmia) cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks strokes). The phenotypic expression depends on age of onset and in females the level of X-inactivation.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Fabry disease?
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Advocacy Organizations
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian MPS Society is a charitable organization dedicated to supporting individuals and families affected by mucopolysaccharidoses (MPS) and related lysosomal storage disorders. We are helping families live their best lives.
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Children’s Cardiomyopathy Foundation
CCF's mission is to accelerate the search for causes and cures for pediatric cardiomyopathy through increased research, education, awareness, advocacy, and support to affected children and their families.
Emory Lysosomal Storage Disease Center
The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.
Fabry Support & Information Group
It is the mission of the Fabry Support & Information Group to provide the Fabry Community and the general public with information, advocacy, education, and compassionate support to improve the quality of live and the quality of care for Fabry patients and family members.
Genetic Epilepsy Team Australia
Collaboration of research and care
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
HeartCharged
Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy and all thick heart muscle disorders, while supporting research and fostering the development of treatments.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
LSD Society Pakistan is a registered Non-Profit organization set up by a group of parents dedicated and committed to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public. The objective of LSD Society is to advocate with the government and other stakeholders to establish a sustainable healthcare system
Lysosomal Storage Disorders Support Society
LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.
MPS Society
The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Patient Access Network (PAN) Foundation
The Patient Access Network (PAN) Foundation is a national patient assistance organization that helps underinsured people with life-threatening, chronic, and rare diseases pay for their out-of-pocket treatment costs, while advocating for more affordable care.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
accessia health
Accessia Health, a national charitable patient assistance organization, is dedicated to eliminating healthcare barriers for people with rare or chronic health conditions. Comprehensive services include personalized case management, financial assistance, education, and legal aid support. Our flexible funding model goes beyond copays, allowing individuals to pay for other essential medical expenses
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Clinical Trials
For a list of clinical trials in this disease area, please click here.