Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome is an autosomal dominant disorder caused by mutations of the VHL gene. The syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts.

Systematic

Hereditary renal tumors
Hereditary leiomyomatosis and renal cell cancer
Hereditary papillary renal cell carcinoma
Nonpapillary renal cell carcinoma
Wilms tumor
von Hippel-Lindau syndrome
VHL

References:

1.

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2.

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3.

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4.

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5.

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6.

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9.

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10.

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23.

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24.

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64.

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Update: Sept. 26, 2018