Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Von Hippel-Lindau disease


Other Names for this Disease
  • VHL
  • VHL syndrome
  • Von Hippel-Lindau disease
  • Von Hippel-Lindau syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis


Newline Maker

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

References
  1. Schimke RN, Collins DL, and Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews Web site. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vhl. Accessed 2/9/2009.


Testing

  • 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.