Disorder
- Name: Proteus syndrome
- Category: Mendelian
- Existing deep-research providers: falcon
- Existing evidence reference count in YAML: 66
Key Pathophysiology Nodes
- Somatic AKT1 p.E17K activation in mosaic cell clones
- Elevated PI3K/AKT signaling in AKT1-mutant cells
- Increased pAKT signaling in AKT1-mutant lesion cells
- Non-cell-autonomous pAKT activation in adjacent cells
- AKT overactivation induces excessive vasculogenesis
- Mural cell dysfunction destabilizes vascular connections
Citation Inventory (for evidence mapping)