Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms Alpha-galactosidase A deficiency Choroba Andersona i Fabry'ego FD Niedobór alfa-galaktozydazy A Rogowiec naczyniowy rozlany Rozsiane zmiany o charakterze angiokeratoma Anderson-Fabry disease Angiokeratoma corporis diffusum Diffuse angiokeratoma FD ORPHA code 324 OMIM code 301500 ICD10 code E75.2 ICD11 code 5C56.01 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl