Fabry disease
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 2024
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Fabry disease?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Clinical Trials
For a list of clinical trials in this disease area, please click here.