Fabry disease

Cyberian Codex MONDO:0010526

Disorder

  • Name: Fabry disease
  • Category: Mendelian
  • Existing deep-research providers: falcon
  • Existing evidence reference count in YAML: 37

Key Pathophysiology Nodes

  • Lysosomal alpha-galactosidase A deficiency and Gb3 accumulation
  • Endoplasmic reticulum stress and unfolded protein response
  • Mitochondrial dysfunction and oxidative stress
  • Autophagy impairment
  • Innate immune activation and inflammation
  • Endothelial dysfunction and vascular remodeling
  • Fibrosis and extracellular matrix remodeling
  • Deep research literature mapping

Citation Inventory (for evidence mapping)