Table 1. Type and characteristics of VHL genetic syndrome.
Type 1 | VHL loss or mutation that affects the protein folding | Haemangioblastoma Renal Cell Carcinoma Low risk of phaeocromocytoma |
Type 2A | VHL missence mutation | Haemangioblastoma phaeocromocytoma Low risk of Renal Cell Carcinoma |
Type 2B | VHL missence mutation | Haemangioblastoma Renal Cell Carcinoma Phaeocromocytoma |
Type 2C | VHL missence mutation | Phaeocromocytoma only |