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Genetic and Rare Diseases Information Center (GARD)

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Von Hippel-Lindau disease

Other Names for this Disease
  • VHL
  • VHL syndrome
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
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Tests & Diagnosis

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How is Von Hippel-Lindau (VHL) disease diagnosed?

The diagnosis of Von Hippel-Lindau (VHL) disease is suspected in individuals with characteristic lesions with hemangioblastomas, renal cysts, and renal cell carcinoma, pheochromocytoma, and endolymphatic sac tumors.  VHL is the only gene known to be associated with VHL disease.  Molecular genetic testing of the VHL gene detects mutations in nearly 100% of individuals with the disease.  Such testing is clinically available.[1]
Last updated: 5/20/2013

  1. Schimke RN, Collins DL, and Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews Web site. 2007; Accessed 2/9/2009.


  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.