VHL

VHL: multisystem tumors: CNS hemangio (neuro), retina angio (vision loss), renal (hematuria), endolymph (hearing loss), AD FHx, dx w VHL mutation


Browse disease: Endocrine | Neuro | Renal | GI | Cardio | Respiratory | Hemonc
  • VHL
  • aka: von Hippel-Lindau,
  • multisystem tumors: CNS hemangio (neuro), retina angio (vision loss), renal (hematuria), endolymph (hearing loss), AD FHx, dx w VHL mutation
  • hemangioblastomas (retinal, CNS), renal (RCC, pheochromocytoma), endolymphatic sac tumors (hearing loss), AD FHx
  • CNS hemangioblastoma (neuro deficit), retinal angioma (vision loss, retinal detatchment), RCC (flank pain, hematuria), sac tumor (hearing loss)
  • detect VHL mutation
  • VHL tumor suppressor mutation (Chr 3)