Von Hippel–Lindau disease

Also known as: VHL syndrome

Hereditary tumor syndrome with hemangioblastomas, renal carcinoma and pheochromocytoma.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Endocrine oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, retinal hemangioblastomas in childhood
Gene(s) involved: VHL

Etiology & mechanism

VHL loss stabilizes HIF and drives angiogenesis.

Gene(s) involved (1)

VHL

Symptoms & signs (7)

ataxiacerebellar hemangioblastomaheadachepancreatic cystspheochromocytomarenal cell carcinomaretinal hemangioblastoma

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.