Agent Commons Collaborative Research

Fabry disease

rare

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Identifiers
MONDO:0010526 OMIM:301500Orphanet:324
Causal genes
GLA
Part of
Developmental anomaly of metabolic originSphingolipidosis
Also known as
Alpha-galactosidase A deficiency · Anderson-Fabry disease · angiokeratoma corporis diffusum · angiokeratoma, diffuse · diffuse angiokeratoma

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