Von Hippel-Lindau syndrome

Common Name(s)

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) syndrome is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The specific tumors that are associated with VHL syndrome include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac).  Mutations in the VHL gene cause von Hippel-Lindau syndrome. These mutations are  inherited in an autosomal dominant pattern. Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Von Hippel-Lindau syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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VHL Family Alliance

Dedicated to improving diagnosis, treatment, and life quality for individuals and families affected by von Hippel-Lindau disease and funding research to uncover a cure.

Last Updated: 15 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Von Hippel-Lindau syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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VHL Family Alliance

Dedicated to improving diagnosis, treatment, and life quality for individuals and families affected by von Hippel-Lindau disease and funding research to uncover a cure.

http://www.vhl.org

Last Updated: 15 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Von Hippel-Lindau syndrome" returned 29 free, full-text research articles on human participants. First 3 results:

Superior mediastinal paraganglioma associated with von Hippel-Lindau syndrome: report of a case.
 

Author(s): Tsuyoshi Takahashi, Hiroshi Nogimura, Ken Kuriki, Ryo Kobayashi

Journal:

 

Extra-adrenal pheochromocytomas are termed paragangliomas. Paragangliomas in the mediastinum, especially the superior mediastinum, are extremely rare. It is known that paragangliomas or pheochromocytomas occur in combination with von Hippel-Lindau syndrome. We present the case of ...

Last Updated: 8 Apr 2014

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Von Hippel-Lindau syndrome: demonstration of entire disease spectrum with (68)Ga-DOTANOC PET-CT.
 

Author(s): Punit Sharma, Varun Singh Dhull, Chandrasekhar Bal, Arun Malhotra, Rakesh Kumar

Journal: Korean J Radiol. ;15(1):169-72.

 

Von Hippel-Lindau (VHL) syndrome is a rare neoplastic disorder characterized by central nervous system (CNS) and visceral tumors. We here present (68)Ga-labelled [1, 4, 7, 10-tetraazacyclododecane-1, 4, 7, 10-tetraacetic acid]-1-Nal3-Octreotide positron emission tomography computed ...

Last Updated: 5 Feb 2014

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Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome.
 

Author(s): Dmitry Volkin, Nitin Yerram, Faisal Ahmed, Dawud Lankford, Angelo Baccala, Gopal N Gupta, Anthony Hoang, Jeffrey Nix, Adam R Metwalli, David M Lang, Gennady Bratslavsky, W Marston Linehan, Peter A Pinto

Journal: J. Pediatr. Surg.. 2012 Nov;47(11):2077-82.

 

Children with von Hippel-Lindau syndrome (VHL) are at an increased risk for developing bilateral pheochromocytomas. In an effort to illustrate the advantage of partial adrenalectomy (PA) over total adrenalectomy in children with VHL, we report the largest single series on PA for pediatric ...

Last Updated: 20 Nov 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Von Hippel-Lindau syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report.
 

Author(s): Noritsugu Kunihiro, Toshihiro Takami, Toru Yamagata, Naohiro Tsuyuguchi, Kenji Ohata

Journal: Neurol. Med. Chir. (Tokyo). 2011 ;51(10):732-5.

 

A 50-year-old male presented with a rare case of hemangioblastoma of cauda equina origin, without clinical signs of von Hippel-Lindau syndrome, manifesting as pain radiating from the back to the left thigh. Magnetic resonance imaging before surgery revealed an intradural spinal tumor ...

Last Updated: 26 Oct 2011

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Molecular pathogenesis of the von Hippel-Lindau hereditary cancer syndrome: implications for oxygen sensing.
 

Author(s): H Yang, W G Kaelin

Journal: Cell Growth Differ.. 2001 Sep;12(9):447-55.

 

Last Updated: 25 Sep 2001

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Genotype-phenotype correlation in von Hippel-Lindau syndrome.
 

Author(s): C A Friedrich

Journal: Hum. Mol. Genet.. 2001 Apr;10(7):763-7.

 

The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, ...

Last Updated: 21 Mar 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pazopanib in Von Hippel-Lindau (VHL) Syndrome
 

Status: Recruiting

Condition Summary: Von Hippel-Lindau Syndrome

 

Last Updated: 8 Jul 2014

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Last Updated: 4 Oct 2014

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Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors
 

Status: Recruiting

Condition Summary: Neuroendocrine Tumors; Von Hippel-Lindau Syndrome; Hippel-Lindau Disease

 

Last Updated: 7 Aug 2014

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