Von Hippel-Lindau Syndrome is a rare hereditary tumor syndrome associated with a number of tumors.
Genetic locus: VHL on 3p25-26
Inheritance: autosomal dominant with high rate of expression and variable expression
Clinical findings may include:
(1) clear cell renal carcinoma (bilateral and/or multifocal)
(2) renal cysts (bilateral and/or multifocal)
(3) CNS hemangioblastoma (cerebellar, spinal)
(4) endolymphatic sac tumor
(5) retinal angioma
(6) pancreatic cysts
(7) pancreatic tumor (microcystic adenoma, islet cell tumor)
(8) pheochromocytoma
(9) epididymal cystadenoma
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Purpose: To evaluate a patient for features of von Hippel-Lindau syndrome (VHL).
Specialty: Hematology Oncology, Genetics, Surgery, general
Objective: clinical diagnosis, including family history for genetics
ICD-10: Q85.8,
