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<meta name="keywords" content="C0019562, angiomatoses, familial cerebello-retinal, angiomatoses, familial cerebelloretinal, angiomatosis retinae, angiomatosis, familial cerebello-retinal, angiomatosis, familial cerebelloretinal, ccnd1, cerebello-retinal angiomatoses, familial, cerebello-retinal angiomatosis, familial, cerebelloretinal angiomatoses, familial, cerebelloretinal angiomatosis, familial, cerebroretinal angiomatosis, disease or syndrome, familial cerebello retinal angiomatosis, familial cerebello-retinal angiomatoses, familial cerebello-retinal angiomatosis, familial cerebelloretinal angiomatoses, familial cerebelloretinal angiomatosis, hippel lindau disease, hippel lindau syndrome, hippel-lindau disease, lindau disease, lindau' disease, lindau's disease, lindau's diseases, lindaus disease, vhl, vhl (von hippel-lindau) syndrome, vhl syndrome, vhl syndromes, vhls, von hippel lindau disease, von hippel lindau syndrome, von hippel-lindau, von hippel-lindau disease, von hippel-lindau syndrome, von hippel-lindau syndrome (vhl), von hippel-lindau syndrome, modifier of, von hippel-lindau syndrome, modifiers of, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas. Retinal hemangioblastomas may be the initial manifestation of VHL and can cause vision loss. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=42458
ConceptID=C0019562
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Von Hippel-Lindau syndrome<span class="h1sub">(VHLS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0019562</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>VHL syndrome; VHLS; Von Hippel-Lindau</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>VHL (Von Hippel-Lindau) syndrome (46659004); Lindau's disease (46659004); Von Hippel-Lindau syndrome (46659004); Familial cerebello-retinal angiomatosis (46659004); Lindau' disease (46659004); Cerebroretinal angiomatosis (46659004)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="CCND1 - ID: 595 - NCBI Gene" href="/gene/595" class="medgenPMinfo">CCND1</a> (11q13.3); <a target="_blank" title="VHL - ID: 7428 - NCBI Gene" href="/gene/7428" class="medgenPMinfo">VHL</a> (3p25.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008667" target="_blank">MONDO:0008667</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/193300" target="_blank">193300</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=892">ORPHA892</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1463" target="_blank">Von Hippel-Lindau Syndrome</a></div><div>Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas. Retinal hemangioblastomas may be the initial manifestation of VHL and can cause vision loss. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1463#vhl.Summary" target="NBK1463">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Diagnosis" target="NBK1463">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Clinical_Characteristics" target="NBK1463">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Genetically_Related_Allelic_Disorder" target="NBK1463">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Differential_Diagnosis" target="NBK1463">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Management" target="NBK1463">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Genetic_Counseling" target="NBK1463">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Resources" target="NBK1463">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Molecular_Genetics" target="NBK1463">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.Chapter_Notes" target="NBK1463">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1463#vhl.References" target="NBK1463">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Rachel S van Leeuwaarde  |  Saya Ahmad  |  Bernadette van Nesselrooij<i>, et. al.</i>   <a href="/books/NBK1463" target="NBK1463" title="NCBI Bookshelf: Von Hippel-Lindau Syndrome">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Von Hippel-Lindau syndrome (VHLS) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.&#13;
Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; 611183) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.&#13;
Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.  <a target="_blank" href="http://www.omim.org/entry/193300">http://www.omim.org/entry/193300</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.<br /><br />Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.<br /><br />People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.<br /><br />Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous in times of stress or trauma, such as when undergoing surgery or in an accident, or during pregnancy.<br /><br />About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.<br /><br />Noncancerous tumors may also develop in the liver and lungs in people with von Hippel-Lindau syndrome. These tumors do not appear to cause any signs or symptoms.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome">https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_766"><div><strong>Renal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0007134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766">Feature record</a> | <a href="/medgen?term=%22Renal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%20766%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10571"><div><strong>Paraganglioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10571</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0030421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10571">Feature record</a> | <a href="/medgen?term=%22Paraganglioma%22%5BClinical%20Features%5D%20OR%2010571%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18419"><div><strong>Pheochromocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18419</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0031511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18419">Feature record</a> | <a href="/medgen?term=%22Pheochromocytoma%22%5BClinical%20Features%5D%20OR%2018419%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66765"><div><strong>Hepatic hemangioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66765</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0238246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66765">Feature record</a> | <a href="/medgen?term=%22Hepatic%20hemangioma%22%5BClinical%20Features%5D%20OR%2066765%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87404"><div><strong>Pulmonary capillary hemangiomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87404</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0340548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20capillary%20hemangiomatosis%22%5BClinical%20Features%5D%20OR%2087404%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869791"><div><strong>Papillary cystadenoma of the epididymis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869791</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4024221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869791">Feature record</a> | <a href="/medgen?term=%22Papillary%20cystadenoma%20of%20the%20epididymis%22%5BClinical%20Features%5D%20OR%20869791%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140917"><div><strong>Multiple renal cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0431718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of many cysts in the kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140917">Feature record</a> | <a href="/medgen?term=%22Multiple%20renal%20cysts%22%5BClinical%20Features%5D%20OR%20140917%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1778106"><div><strong>Epididymal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778106</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5442141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A smooth, extratesticular, spherical cyst in the head of the epididymis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1778106">Feature record</a> | <a href="/medgen?term=%22Epididymal%20cyst%22%5BClinical%20Features%5D%20OR%201778106%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45293"><div><strong>Pancreatic cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45293</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0030283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A cyst of the pancreas that possess a lining of mucous epithelium.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45293">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20cysts%22%5BClinical%20Features%5D%20OR%2045293%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18279"><div><strong>Neoplasm of the pancreas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18279</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0030297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the pancreas.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18279">Feature record</a> | <a href="/medgen?term=%22Neoplasm%20of%20the%20pancreas%22%5BClinical%20Features%5D%20OR%2018279%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52760"><div><strong>Tinnitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52760</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0040264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52760">Feature record</a> | <a href="/medgen?term=%22Tinnitus%22%5BClinical%20Features%5D%20OR%2052760%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_53006"><div><strong>Vertigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0042571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal sensation of spinning while the body is actually stationary.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/53006">Feature record</a> | <a href="/medgen?term=%22Vertigo%22%5BClinical%20Features%5D%20OR%2053006%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_152677"><div><strong>Retinal capillary hemangioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152677</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0730303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A benign vascular tumor of the retina without any neoplastic characteristics.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/152677">Feature record</a> | <a href="/medgen?term=%22Retinal%20capillary%20hemangioma%22%5BClinical%20Features%5D%20OR%20152677%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_234108"><div><strong>Cerebellar hemangioblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234108</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1332900</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A hemangioblastoma of the cerebellum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/234108">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hemangioblastoma%22%5BClinical%20Features%5D%20OR%20234108%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869793"><div><strong>Spinal hemangioblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4024223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A hemangioblastoma of the spinal cord.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869793">Feature record</a> | <a href="/medgen?term=%22Spinal%20hemangioblastoma%22%5BClinical%20Features%5D%20OR%20869793%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18552"><div><strong>Polycythemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0032461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18552">Feature record</a> | <a href="/medgen?term=%22Polycythemia%22%5BClinical%20Features%5D%20OR%2018552%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycythemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm of the pancreas</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic cysts</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1778106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epididymal cyst</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple renal cysts</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hemangioblastoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152677" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal capillary hemangioma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal hemangioblastoma</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tinnitus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_53006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertigo</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic hemangioma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Papillary cystadenoma of the epididymis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paraganglioma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary capillary hemangiomatosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cell carcinoma</a></span></li></ul></li></ul></div></div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019562[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=42458">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=42458" target="_blank" href="/omim/193300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1463/" ref="ncbi_uid=42458">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=42458" ref="ncbi_uid=42458">V</a></span></span><span class="TLline">Von Hippel-Lindau syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/235364" ref="tree=MeSH" title="MedGen record for Neoplasm by Special Category">Neoplasm by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/39483" ref="tree=MeSH" title="MedGen record for Benign neoplasm">Benign neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/83866" ref="tree=MeSH" title="MedGen record for Benign connective and soft tissue neoplasm">Benign connective and soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/235124" ref="tree=MeSH" title="MedGen record for Benign vascular tumor">Benign vascular tumor</a></span><ul><li><span class="TLline"><a href="/medgen/195779" ref="tree=MeSH" title="MedGen record for Benign blood vessel neoplasm">Benign blood vessel neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/1931" ref="tree=MeSH" title="MedGen record for Angiomatosis">Angiomatosis</a></span><ul><li><span class="matched_ds">Von Hippel-Lindau syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=99&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Von Hippel-Lindau syndrome</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/40042715">Von Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harbi E,
Aschner M</span><br />
<span class="medgenPMjournal">Mol Biol Rep</span>
2025 Mar 5;52(1):281.
doi: 10.1007/s11033-025-10403-8.
<span class="bold">PMID: </span><a href="/pubmed/40042715" target="_blank">40042715</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11257110">Genotype-phenotype correlation in von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich CA</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2001 Apr;10(7):763-7.
doi: 10.1093/hmg/10.7.763.
<span class="bold">PMID: </span><a href="/pubmed/11257110" target="_blank">11257110</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3310444">Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neumann HP</span><br />
<span class="medgenPMjournal">Vasa</span>
1987;16(3):220-6.
<span class="bold">PMID: </span><a href="/pubmed/3310444" target="_blank">3310444</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22von%20hippel-lindau%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (25)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_114">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
<div class="nl"><a target="_blank" href="/pubmed/26389510">Genetics of Renal Cell Carcinoma (PDQ®): Health Professional Version.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
2002
<span class="bold">PMID: </span><a href="/pubmed/26389510" target="_blank">26389510</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
2002
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div><h3 class="subhead">External</h3><h3 class="nl vspace"><a href="https://www.cancer.gov/types/kidney/hp/renal-cell-carcinoma-genetics/vhl-syndrome" target="_blank">PDQ® Cancer Genetics Editorial Board. PDQ Von Hippel-Lindau Disease. Bethesda, MD: National Cancer Institute. Updated &lt;03/08/2021&gt;. Accessed &lt;05/05/2021&gt;.</a></h3>
</div>
</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/33926690">Imaging of Tumor Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Batchala PP,
Eluvathingal Muttikkal TJ,
Mukherjee S</span><br />
<span class="medgenPMjournal">Radiol Clin North Am</span>
2021 May;59(3):471-500.
doi: 10.1016/j.rcl.2021.01.009.
<span class="bold">PMID: </span><a href="/pubmed/33926690" target="_blank">33926690</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31620846">Imaging surveillance for children with predisposition to renal tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Srinivasan AS,
Saade-Lemus S,
Servaes SE,
Acord MR,
Reid JR,
Anupindi SA,
States LJ</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2019 Oct;49(11):1453-1462.
Epub 2019 Oct 16
doi: 10.1007/s00247-019-04432-2.
<span class="bold">PMID: </span><a href="/pubmed/31620846" target="_blank">31620846</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15708292">The phakomatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Korf BR</span><br />
<span class="medgenPMjournal">Clin Dermatol</span>
2005 Jan-Feb;23(1):78-84.
doi: 10.1016/j.clindermatol.2004.09.007.
<span class="bold">PMID: </span><a href="/pubmed/15708292" target="_blank">15708292</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11257110">Genotype-phenotype correlation in von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich CA</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
2001 Apr;10(7):763-7.
doi: 10.1093/hmg/10.7.763.
<span class="bold">PMID: </span><a href="/pubmed/11257110" target="_blank">11257110</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9239471">Von Hippel-Lindau syndrome: hereditary cancer arising from inherited mutations of the VHL tumor suppressor gene.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Humphrey JS,
Klausner RD,
Linehan WM</span><br />
<span class="medgenPMjournal">Cancer Treat Res</span>
1996;88:13-39.
doi: 10.1007/978-1-4615-6343-3_2.
<span class="bold">PMID: </span><a href="/pubmed/9239471" target="_blank">9239471</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Von%20Hippel-Lindau%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (140)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35760869">Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
Li W,
Yuan J,
Bullova P,
Wu J,
Zhang X,
Liu Y,
Plescher M,
Rodriguez J,
Bedoya-Reina OC,
Jannig PR,
Valente-Silva P,
Yu M,
Henriksson MA,
Zubarev RA,
Smed-Sörensen A,
Suzuki CK,
Ruas JL,
Holmberg J,
Larsson C,
Christofer Juhlin C,
von Kriegsheim A,
Cao Y,
Schlisio S</span><br />
<span class="medgenPMjournal">Nat Metab</span>
2022 Jun;4(6):739-758.
Epub 2022 Jun 27
doi: 10.1038/s42255-022-00593-x.
<span class="bold">PMID: </span><a href="/pubmed/35760869" target="_blank">35760869</a><a href="/pmc/articles/PMC9236906" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33926690">Imaging of Tumor Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Batchala PP,
Eluvathingal Muttikkal TJ,
Mukherjee S</span><br />
<span class="medgenPMjournal">Radiol Clin North Am</span>
2021 May;59(3):471-500.
doi: 10.1016/j.rcl.2021.01.009.
<span class="bold">PMID: </span><a href="/pubmed/33926690" target="_blank">33926690</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26279462">Von Hippel-Lindau Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Skowronek I,
Kozaczuk S</span><br />
<span class="medgenPMjournal">Horm Res Paediatr</span>
2015;84(3):145-52.
Epub 2015 Aug 5
doi: 10.1159/000431323.
<span class="bold">PMID: </span><a href="/pubmed/26279462" target="_blank">26279462</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16112304">Phaeochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenders JW,
Eisenhofer G,
Mannelli M,
Pacak K</span><br />
<span class="medgenPMjournal">Lancet</span>
2005 Aug 20-26;366(9486):665-75.
doi: 10.1016/S0140-6736(05)67139-5.
<span class="bold">PMID: </span><a href="/pubmed/16112304" target="_blank">16112304</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3310444">Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neumann HP</span><br />
<span class="medgenPMjournal">Vasa</span>
1987;16(3):220-6.
<span class="bold">PMID: </span><a href="/pubmed/3310444" target="_blank">3310444</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Von%20Hippel-Lindau%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (243)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39138406">The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azimi F,
Naseripour M,
Aghajani A,
Kasraei H,
Chaibakhsh S</span><br />
<span class="medgenPMjournal">BMC Ophthalmol</span>
2024 Aug 13;24(1):343.
doi: 10.1186/s12886-024-03597-1.
<span class="bold">PMID: </span><a href="/pubmed/39138406" target="_blank">39138406</a><a href="/pmc/articles/PMC11323439" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36038743">Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggeri RM,
Benevento E,
De Cicco F,
Fazzalari B,
Guadagno E,
Hasballa I,
Tarsitano MG,
Isidori AM,
Colao A,
Faggiano A;
NIKE Group</span><br />
<span class="medgenPMjournal">J Endocrinol Invest</span>
2023 Feb;46(2):213-234.
Epub 2022 Aug 30
doi: 10.1007/s40618-022-01905-4.
<span class="bold">PMID: </span><a href="/pubmed/36038743" target="_blank">36038743</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32141326">Clinical response to pazopanib in a patient with endolymphatic sac tumor not associated with von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nelson T,
Hu J,
Bannykh S,
Fan X,
Rudnick J,
Vail E</span><br />
<span class="medgenPMjournal">CNS Oncol</span>
2020 Mar 1;9(1):CNS50.
Epub 2020 Mar 6
doi: 10.2217/cns-2019-0019.
<span class="bold">PMID: </span><a href="/pubmed/32141326" target="_blank">32141326</a><a href="/pmc/articles/PMC7163403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21955529">Laparoscopic adrenalectomy in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes RI,
Dénes FT,
Bissoli J,
Mendonca BB,
Srougi M</span><br />
<span class="medgenPMjournal">J Pediatr Urol</span>
2012 Aug;8(4):379-85.
Epub 2011 Sep 29
doi: 10.1016/j.jpurol.2011.07.012.
<span class="bold">PMID: </span><a href="/pubmed/21955529" target="_blank">21955529</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10804089">von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harris AL</span><br />
<span class="medgenPMjournal">Oncologist</span>
2000;5 Suppl 1:32-6.
doi: 10.1634/theoncologist.5-suppl_1-32.
<span class="bold">PMID: </span><a href="/pubmed/10804089" target="_blank">10804089</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Von%20Hippel-Lindau%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/29239044">Pathology and genetics of phaeochromocytoma and paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Turchini J,
Cheung VKY,
Tischler AS,
De Krijger RR,
Gill AJ</span><br />
<span class="medgenPMjournal">Histopathology</span>
2018 Jan;72(1):97-105.
doi: 10.1111/his.13402.
<span class="bold">PMID: </span><a href="/pubmed/29239044" target="_blank">29239044</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26279462">Von Hippel-Lindau Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Skowronek I,
Kozaczuk S</span><br />
<span class="medgenPMjournal">Horm Res Paediatr</span>
2015;84(3):145-52.
Epub 2015 Aug 5
doi: 10.1159/000431323.
<span class="bold">PMID: </span><a href="/pubmed/26279462" target="_blank">26279462</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20687511">Von Hippel Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JJ,
Rini BI,
Hansel DE</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2010;685:228-49.
doi: 10.1007/978-1-4419-6448-9_22.
<span class="bold">PMID: </span><a href="/pubmed/20687511" target="_blank">20687511</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16112304">Phaeochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenders JW,
Eisenhofer G,
Mannelli M,
Pacak K</span><br />
<span class="medgenPMjournal">Lancet</span>
2005 Aug 20-26;366(9486):665-75.
doi: 10.1016/S0140-6736(05)67139-5.
<span class="bold">PMID: </span><a href="/pubmed/16112304" target="_blank">16112304</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15708292">The phakomatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Korf BR</span><br />
<span class="medgenPMjournal">Clin Dermatol</span>
2005 Jan-Feb;23(1):78-84.
doi: 10.1016/j.clindermatol.2004.09.007.
<span class="bold">PMID: </span><a href="/pubmed/15708292" target="_blank">15708292</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Von%20Hippel-Lindau%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (118)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39138406">The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azimi F,
Naseripour M,
Aghajani A,
Kasraei H,
Chaibakhsh S</span><br />
<span class="medgenPMjournal">BMC Ophthalmol</span>
2024 Aug 13;24(1):343.
doi: 10.1186/s12886-024-03597-1.
<span class="bold">PMID: </span><a href="/pubmed/39138406" target="_blank">39138406</a><a href="/pmc/articles/PMC11323439" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36948181">Approaches to Incidental Intradural Tumors of the Spine in the Pediatric Population.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hersh AM,
Lubelski D,
Theodore N,
Sciubba DM,
Jallo G,
Shimony N</span><br />
<span class="medgenPMjournal">Pediatr Neurosurg</span>
2023;58(5):367-378.
Epub 2023 Mar 22
doi: 10.1159/000530286.
<span class="bold">PMID: </span><a href="/pubmed/36948181" target="_blank">36948181</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35789254">Gain of function of a metalloproteinase associated with multiple myeloma, bicuspid aortic valve, and Von Hippel-Lindau syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snipas SJ,
Jappelli R,
Torkamani A,
Paternostro G,
Salvesen GS</span><br />
<span class="medgenPMjournal">Biochem J</span>
2022 Jul 29;479(14):1533-1542.
doi: 10.1042/BCJ20220166.
<span class="bold">PMID: </span><a href="/pubmed/35789254" target="_blank">35789254</a><a href="/pmc/articles/PMC10084813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29239044">Pathology and genetics of phaeochromocytoma and paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Turchini J,
Cheung VKY,
Tischler AS,
De Krijger RR,
Gill AJ</span><br />
<span class="medgenPMjournal">Histopathology</span>
2018 Jan;72(1):97-105.
doi: 10.1111/his.13402.
<span class="bold">PMID: </span><a href="/pubmed/29239044" target="_blank">29239044</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26177321">Update on Paragangliomas and Pheochromocytomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lam AK</span><br />
<span class="medgenPMjournal">Turk Patoloji Derg</span>
2015;31 Suppl 1:105-12.
doi: 10.5146/tjpath.2015.01318.
<span class="bold">PMID: </span><a href="/pubmed/26177321" target="_blank">26177321</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Von%20Hippel-Lindau%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (65)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/39138406">The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azimi F,
Naseripour M,
Aghajani A,
Kasraei H,
Chaibakhsh S</span><br />
<span class="medgenPMjournal">BMC Ophthalmol</span>
2024 Aug 13;24(1):343.
doi: 10.1186/s12886-024-03597-1.
<span class="bold">PMID: </span><a href="/pubmed/39138406" target="_blank">39138406</a><a href="/pmc/articles/PMC11323439" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35535824">Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grossen A,
Gavula T,
Chrusciel D,
Evans A,
McNall-Knapp R,
Taylor A,
Fossey B,
Brakefield M,
Carter C,
Schwartz N,
Gross N,
Jea A,
Desai V</span><br />
<span class="medgenPMjournal">Neurosurg Focus</span>
2022 May;52(5):E2.
doi: 10.3171/2022.2.FOCUS21776.
<span class="bold">PMID: </span><a href="/pubmed/35535824" target="_blank">35535824</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Von%20Hippel-Lindau%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (103)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (3)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (9)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (118)</a></li>
<li><a href="/gtr/tests?term=C0019562%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (12)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0019562%5bDISCUI%5d" target="_blank">See all (151)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=193300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=892" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Von%20Hippel-Lindau%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22von%20hippel-lindau%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Von%20Hippel-Lindau%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=168461%20608537" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=595[geneid]" target="_blank">View CCND1 variations in ClinVar</a></li><li><a href="/clinvar/?term=7428[geneid]" target="_blank">View VHL variations in ClinVar</a></li><li><a href="/nuccore/166795258,319803102" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=193300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Von+Hippel-Lindau+syndrome/7416" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/von_hippel_lindau_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Von%20Hippel-Lindau%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7855/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed?term=Von%20Hippel-Lindau%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=42458" ref="log$=recordlinks">Gene</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0019562[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=42458" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&amp;from_uid=42458" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&amp;from_uid=42458" ref="log$=recordlinks">PubMed (OMIM)</a>
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