DISEASES

Disease-gene associations mined from literature

Human genes for Fabry disease

Fabry disease [DOID:14499]

Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. The disease is named after one of its discoverers, Johannes Fabry (June 1, 1860–June 29, 1930).

Synonyms:  Fabry disease,  DOID:14499,  Fabry disorder,  Fabry syndrome,  Alpha-galactosidase A deficiency ...

Linkouts:  OMIM