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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemangioblastoma


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Cause


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What causes hemangioblastoma?

Most hemangioblastomas rise sporadically, without a known cause. However, in about one quarter of all cases, they are associated with von Hippel-Lindau (VHL) syndrome.[1] VHL is an inherited condition characterized by the abnormal growth of tumors in certain parts of the body. The specific tumors that are associated with VHL syndrome include hemangioblastomas of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytomas; and endolymphatic sac tumors. Mutations in the VHL gene cause von Hippel-Lindau syndrome. These mutations are inherited in an autosomal dominant pattern.[2]
Last updated: 7/5/2011

References
  1. Slavin KV & Wyler AR. Hemangioblastoma. eMedicine. May 2011; http://emedicine.medscape.com/article/250670-overview#showall. Accessed 7/5/2011.
  2. Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome. Accessed 7/5/2011.