#Von_Hippel_Lindau_Syndrome:
Autosomal dominant inheritance.
I.e. 50% of offspring will express the disease.
Pathophysiology: Hippel-Lindau gene(VHL) mutation.
VHL gene supress tumor growth (Tumor suppressor gene).
VHL gene is on chromosome 3.
Patients with mutation in VHL gene are susceptible to neoplasms (bengin or malignant).
Bengin : retinal and cerebellar hemiangioblastoma, Pheochromcytoma.
Malignant: Renal cell carcinoma.
#Reference:
1)UWORLD Surgery.
