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<title>Von Hippel-Lindau syndrome - Genes and Disease - NCBI Bookshelf</title>
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Genes and Disease [Internet]" /><meta name="citation_title" content="Von Hippel-Lindau syndrome" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="1998" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22232/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Von Hippel-Lindau syndrome" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="1998" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22232/" /><meta name="description" content="Von Hippel-Lindau syndrome is an inherited multi-system disorder characterized by abnormal growth of blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas or hemangioblastomas. Growths may develop in the retina, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body." /><meta name="og:title" content="Von Hippel-Lindau syndrome" /><meta name="og:type" content="book" /><meta name="og:description" content="Von Hippel-Lindau syndrome is an inherited multi-system disorder characterized by abnormal growth of blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas or hemangioblastomas. Growths may develop in the retina, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22232/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/vonhippellindausyndrome/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22232/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22232_"><span class="title" itemprop="name">Von Hippel-Lindau syndrome</span></h1></div><div class="body-content whole_rhythm" itemprop="text"><div class="graphic"><img src="/books/NBK22232/bin/VHL.jpg" alt="Image VHL.jpg" /></div><p>Von Hippel-Lindau syndrome is an inherited multi-system disorder characterized by abnormal growth of blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas or hemangioblastomas. Growths may develop in the retina, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body.</p><p>The gene for Von-Hippel Lindau disease (VHL) is found on chromosome 3, and is inherited in a dominant fashion. If one parent has a dominant gene, each child has a 50-50 chance of inheriting that gene. The VHL gene is a tumor suppressor gene. This means that its role in a normal cell is to stop uncontrolled growth and proliferation. If the gene is lost or mutated, then its inhibitory affect on cell growth is lost or diminished, which, in combination with defects in other regulatory proteins, can lead to cancerous growth. LIke the Rb tumor suppressor gene, VHL seems to act as a 'gatekeeper' to the multistep process of tumorigenesis.</p><p>Although unrelated to any other known family of human proteins, homologs to human VHL are found in mice and rats. Experiments using these animals as model organisms for the human disease are helping researchers discover the normal physiological role of VHL, which will shed light on its mechanism of pathogenesis. Initial results suggest that VHL may play a role in regulating exit form the cell cycle.
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</p><div id="vonhippellindausyndrome.disease-categories"><h2 id="_vonhippellindausyndrome_disease-categories_">Related diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A10/">See other Cancers</a>
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<a href="/books/n/gnd/A46/">See other Diseases of the Heart and Blood Vessels</a>
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<a href="/books/n/gnd/A75/">See other Diseases of the Nervous System</a>
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