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<meta name="keywords" content="C0031511, chromaffin cell tumor, chromaffin paraganglioma, chromaffin tumor, chromaffin tumors, chromaffin tumours, chromaffinoma, max, medullary paraganglioma, neoplastic process, phaeochromocytoma, pheochromocytoma, pheochromocytoma, susceptibility to, pheochromocytomas, ret, tmem127, vhl, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=18419
ConceptID=C0031511
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pheochromocytoma</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Medullary paraganglioma</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="MAX - ID: 4149 - NCBI Gene" href="/gene/4149" class="medgenPMinfo">MAX</a> (14q23.3); <a target="_blank" title="RET - ID: 5979 - NCBI Gene" href="/gene/5979" class="medgenPMinfo">RET</a> (10q11.21); <a target="_blank" title="TMEM127 - ID: 55654 - NCBI Gene" href="/gene/55654" class="medgenPMinfo">TMEM127</a> (2q11.2); <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>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002666">HP:0002666</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008233" target="_blank">MONDO:0008233</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/171300" target="_blank">171300</a></td></tr>
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<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/NBK1548" target="_blank">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a></div><div>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. [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/NBK1548#paragangliomas.Summary" target="NBK1548">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Diagnosis" target="NBK1548">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Clinical_Characteristics" target="NBK1548">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Genetically_Related_Allel" target="NBK1548">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Differential_Diagnosis" target="NBK1548">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Management" target="NBK1548">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Genetic_Counseling" target="NBK1548">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Resources" target="NBK1548">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Molecular_Genetics" target="NBK1548">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.Chapter_Notes" target="NBK1548">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1548#paragangliomas.References" target="NBK1548">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Tobias Else  |  Samantha Greenberg  |  Lauren Fishbein   <a href="/books/NBK1548" target="NBK1548" title="NCBI Bookshelf: Hereditary Paraganglioma-Pheochromocytoma Syndromes">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 />Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).&#13;
Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.&#13;
Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200) and concluded that it fits.&#13;
Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.  <a target="_blank" href="http://www.omim.org/entry/171300">http://www.omim.org/entry/171300</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. Adrenal glands are located on top of each kidney and produce hormones in response to stress. Most people with paraganglioma develop only one tumor in their lifetime.<br /><br />Some people develop a paraganglioma or pheochromocytoma as part of a hereditary syndrome that may affect other organs and tissues in the body. However, the tumors often are not associated with any syndromes, in which case the condition is called nonsyndromic paraganglioma or pheochromocytoma.<br /><br />Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Although most sympathetic paragangliomas are pheochromocytomas, some are found outside the adrenal glands, usually in the abdomen, and are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating.<br /><br />Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing.<br /><br />Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/nonsyndromic-paraganglioma">https://medlineplus.gov/genetics/condition/nonsyndromic-paraganglioma</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_5477"><div><strong>Hemangioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5477</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.">C0018916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5477">Feature record</a> | <a href="/medgen?term=%22Hemangioma%22%5BClinical%20Features%5D%20OR%205477%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10294"><div><strong>Neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10294</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.">C0027651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10294">Feature record</a> | <a href="/medgen?term=%22Neoplasm%22%5BClinical%20Features%5D%20OR%2010294%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_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased levels of protein in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1841548"><div><strong>Elevated urinary norepinephrine level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841548</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.">C5826344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841548">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20norepinephrine%20level%22%5BClinical%20Features%5D%20OR%201841548%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19727"><div><strong>Renal artery stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19727</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.">C0035067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of stenosis of the renal artery.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19727">Feature record</a> | <a href="/medgen?term=%22Renal%20artery%20stenosis%22%5BClinical%20Features%5D%20OR%2019727%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</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.">C0039231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_347389"><div><strong>Episodic hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347389</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.">C1857175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347389">Feature record</a> | <a href="/medgen?term=%22Episodic%20hypertension%22%5BClinical%20Features%5D%20OR%20347389%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_423648"><div><strong>Cerebral hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423648</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.">C2937358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Hemorrhage into the parenchyma of the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/423648">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hemorrhage%22%5BClinical%20Features%5D%20OR%20423648%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_871125"><div><strong>Positive regitine blocking test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871125</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.">C4025594</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871125">Feature record</a> | <a href="/medgen?term=%22Positive%20regitine%20blocking%20test%22%5BClinical%20Features%5D%20OR%20871125%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5686"><div><strong>Hypercalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5686</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.">C0020437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased calcium concentration in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5686">Feature record</a> | <a href="/medgen?term=%22Hypercalcemia%22%5BClinical%20Features%5D%20OR%205686%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5690"><div><strong>Hyperhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5690</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.">C0020458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5690">Feature record</a> | <a href="/medgen?term=%22Hyperhidrosis%22%5BClinical%20Features%5D%20OR%205690%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_113157"><div><strong>Cafe-au-lait spot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113157</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.">C0221263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113157">Feature record</a> | <a href="/medgen?term=%22Cafe-au-lait%20spot%22%5BClinical%20Features%5D%20OR%20113157%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3202"><div><strong>Developmental cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3202</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.">C0009691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3202">Feature record</a> | <a href="/medgen?term=%22Developmental%20cataract%22%5BClinical%20Features%5D%20OR%203202%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_101819"><div><strong>Hypertensive retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101819</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.">C0152132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Retinopathy due to hypertension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/101819">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20retinopathy%22%5BClinical%20Features%5D%20OR%20101819%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 metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalcemia</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_423648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hemorrhage</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic hypertension</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Positive regitine blocking test</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal artery stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental cataract</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101819" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive retinopathy</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_1841548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary norepinephrine level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe-au-lait spot</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperhidrosis</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_5477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemangioma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm</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></ul></li></ul></div></div>
</div>
<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></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=C0031511[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=18419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18419" target="_blank" href="/omim/164761">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1548/" ref="ncbi_uid=18419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=18419" ref="ncbi_uid=18419">V</a></span></span><span class="TLline">Pheochromocytoma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="matched_ds">Pheochromocytoma</span><ul><li><span class="TLline"><a href="/medgen/263453" ref="tree=MeSH" title="MedGen record for Extraadrenal pheochromocytoma">Extraadrenal pheochromocytoma</a></span><ul><li><span class="TLline"><a href="/medgen/234039" ref="tree=MeSH" title="MedGen record for Bladder Paraganglioma">Bladder Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/277328" ref="tree=MeSH" title="MedGen record for Metastatic Bladder Paraganglioma">Metastatic Bladder Paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232479" ref="tree=MeSH" title="MedGen record for Extra-Adrenal Retroperitoneal Paraganglioma">Extra-Adrenal Retroperitoneal Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/313741" ref="tree=MeSH" title="MedGen record for Superior and Inferior Paraaortic Paraganglioma">Superior and Inferior Paraaortic Paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232668" ref="tree=MeSH" title="MedGen record for Intrathoracic Paravertebral Paraganglioma">Intrathoracic Paravertebral Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/233152" ref="tree=MeSH" title="MedGen record for Metastatic Intrathoracic Paravertebral Paraganglioma">Metastatic Intrathoracic Paravertebral Paraganglioma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_42458"><div><strong>Von Hippel-Lindau syndrome</strong><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.">C0019562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">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.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42458">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_9958"><div><strong>Multiple endocrine neoplasia type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9958</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.">C0025268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9958">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_9959"><div><strong>Multiple endocrine neoplasia type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9959</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.">C0025269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9959">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</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.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_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">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_401431"><div><strong>Pheochromocytoma-islet cell tumor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401431</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.">C1868392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401431">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_388559"><div><strong>Carney complex, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388559</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.">C2607929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/388559">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1673088"><div><strong>Paragangliomas 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673088</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.">C5193116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pheochromocytoma/paraganglioma syndrome-7 (PPGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, known as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019).&#13; For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1673088">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carney complex, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 2A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 2B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pheochromocytoma-islet cell tumor syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Von Hippel-Lindau syndrome</a></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/37318239">European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fassnacht M,
Tsagarakis S,
Terzolo M,
Tabarin A,
Sahdev A,
Newell-Price J,
Pelsma I,
Marina L,
Lorenz K,
Bancos I,
Arlt W,
Dekkers OM</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2023 Jul 20;189(1):G1-G42.
doi: 10.1093/ejendo/lvad066.
<span class="bold">PMID: </span><a href="/pubmed/37318239" target="_blank">37318239</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34147030">Personalized Management of Pheochromocytoma and Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nölting S,
Bechmann N,
Taieb D,
Beuschlein F,
Fassnacht M,
Kroiss M,
Eisenhofer G,
Grossman A,
Pacak K</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2022 Mar 9;43(2):199-239.
doi: 10.1210/endrev/bnab019.
<span class="bold">PMID: </span><a href="/pubmed/34147030" target="_blank">34147030</a><a href="/pmc/articles/PMC8905338" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33159664">Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi GP,
Bisogni V,
Rossitto G,
Maiolino G,
Cesari M,
Zhu R,
Seccia TM</span><br />
<span class="medgenPMjournal">High Blood Press Cardiovasc Prev</span>
2020 Dec;27(6):547-560.
Epub 2020 Nov 7
doi: 10.1007/s40292-020-00415-9.
<span class="bold">PMID: </span><a href="/pubmed/33159664" target="_blank">33159664</a><a href="/pmc/articles/PMC7661394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pheochromocytoma%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 (530)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/neuroendocrine.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023</a></h3>
</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/26389271">Genetics of Endocrine and Neuroendocrine Neoplasias (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/26389271" target="_blank">26389271</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></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/37586639">Diagnosis and Management of Pheochromocytomas and Paragangliomas: A Guide for the Clinician.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma S,
Fishbein L</span><br />
<span class="medgenPMjournal">Endocr Pract</span>
2023 Dec;29(12):999-1006.
Epub 2023 Aug 15
doi: 10.1016/j.eprac.2023.07.027.
<span class="bold">PMID: </span><a href="/pubmed/37586639" target="_blank">37586639</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36925186">Succinate Dehydrogenase Mutations as Familial Pheochromocytoma Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lui MS,
Clemente-Gutierrez U,
Skefos CM,
Perrier ND</span><br />
<span class="medgenPMjournal">Surg Oncol Clin N Am</span>
2023 Apr;32(2):289-301.
doi: 10.1016/j.soc.2022.10.006.
<span class="bold">PMID: </span><a href="/pubmed/36925186" target="_blank">36925186</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28858847">Pheochromocytoma, diagnosis and treatment: Review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Farrugia FA,
Martikos G,
Tzanetis P,
Charalampopoulos A,
Misiakos E,
Zavras N,
Sotiropoulos D</span><br />
<span class="medgenPMjournal">Endocr Regul</span>
2017 Jul 1;51(3):168-181.
doi: 10.1515/enr-2017-0018.
<span class="bold">PMID: </span><a href="/pubmed/28858847" target="_blank">28858847</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27888488">Phaeochromocytoma and Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gunawardane PTK,
Grossman A</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2017;956:239-259.
doi: 10.1007/5584_2016_76.
<span class="bold">PMID: </span><a href="/pubmed/27888488" target="_blank">27888488</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19957223">Incidentaloma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moalem J,
Suh I,
Duh QY</span><br />
<span class="medgenPMjournal">Cancer Treat Res</span>
2010;153:119-34.
doi: 10.1007/978-1-4419-0857-5_8.
<span class="bold">PMID: </span><a href="/pubmed/19957223" target="_blank">19957223</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma%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 (3027)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30651249">Endocrinology: phaeochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medical Masterclass contributors,
Firth J</span><br />
<span class="medgenPMjournal">Clin Med (Lond)</span>
2019 Jan;19(1):68-71.
doi: 10.7861/clinmedicine.19-1-68.
<span class="bold">PMID: </span><a href="/pubmed/30651249" target="_blank">30651249</a><a href="/pmc/articles/PMC6399645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21724908">Pheochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Edmonds S,
Fein DM,
Gurtman A</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2011 Jul;32(7):308-10.
doi: 10.1542/pir.32-7-308.
<span class="bold">PMID: </span><a href="/pubmed/21724908" target="_blank">21724908</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/11377298">Pheochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klingler HC,
Klingler PJ,
Martin JK Jr,
Smallridge RC,
Smith SL,
Hinder RA</span><br />
<span class="medgenPMjournal">Urology</span>
2001 Jun;57(6):1025-32.
doi: 10.1016/s0090-4295(01)00966-9.
<span class="bold">PMID: </span><a href="/pubmed/11377298" target="_blank">11377298</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6035362">Pheochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Med Lett Drugs Ther</span>
1967 May 5;9(9):34-6.
<span class="bold">PMID: </span><a href="/pubmed/6035362" target="_blank">6035362</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma%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 (6241)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38783456">Endocrine Fever.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalra S,
Bhattacharya S,
Dhingra A,
Khare J,
Jindal S</span><br />
<span class="medgenPMjournal">J Pak Med Assoc</span>
2024 May;74(5):998-999.
doi: 10.47391/JPMA.24-36.
<span class="bold">PMID: </span><a href="/pubmed/38783456" target="_blank">38783456</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35973976">Targeted Therapies in Pheochromocytoma and Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang K,
Crona J,
Beuschlein F,
Grossman AB,
Pacak K,
Nölting S</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2022 Nov 23;107(11):2963-2972.
doi: 10.1210/clinem/dgac471.
<span class="bold">PMID: </span><a href="/pubmed/35973976" target="_blank">35973976</a><a href="/pmc/articles/PMC9923802" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28858847">Pheochromocytoma, diagnosis and treatment: Review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Farrugia FA,
Martikos G,
Tzanetis P,
Charalampopoulos A,
Misiakos E,
Zavras N,
Sotiropoulos D</span><br />
<span class="medgenPMjournal">Endocr Regul</span>
2017 Jul 1;51(3):168-181.
doi: 10.1515/enr-2017-0018.
<span class="bold">PMID: </span><a href="/pubmed/28858847" target="_blank">28858847</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22056346">I-131-MIBG therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vöö S,
Bucerius J,
Mottaghy FM</span><br />
<span class="medgenPMjournal">Methods</span>
2011 Nov;55(3):238-45.
Epub 2011 Oct 25
doi: 10.1016/j.ymeth.2011.10.006.
<span class="bold">PMID: </span><a href="/pubmed/22056346" target="_blank">22056346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6104922">Pheochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Teply JF,
Lawrence GH</span><br />
<span class="medgenPMjournal">Am J Surg</span>
1980 Jul;140(1):107-11.
doi: 10.1016/0002-9610(80)90425-0.
<span class="bold">PMID: </span><a href="/pubmed/6104922" target="_blank">6104922</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma%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 (1975)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34077647">Hypertensive Heartbreak.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lau ES,
Scirica B,
Schaefer IM,
Miller AL,
Loscalzo J</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Jun 3;384(22):2145-2152.
doi: 10.1056/NEJMcps2018493.
<span class="bold">PMID: </span><a href="/pubmed/34077647" target="_blank">34077647</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32861807">Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fassnacht M,
Assie G,
Baudin E,
Eisenhofer G,
de la Fouchardiere C,
Haak HR,
de Krijger R,
Porpiglia F,
Terzolo M,
Berruti A;
ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org</span><br />
<span class="medgenPMjournal">Ann Oncol</span>
2020 Nov;31(11):1476-1490.
Epub 2020 Aug 27
doi: 10.1016/j.annonc.2020.08.2099.
<span class="bold">PMID: </span><a href="/pubmed/32861807" target="_blank">32861807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30146582">Rectal Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Araki T,
Takeshita S,
Kawasaki H,
Kusumoto K,
Ohata K,
Shigematsu K,
Shigeno M</span><br />
<span class="medgenPMjournal">Intern Med</span>
2019 Jan 15;58(2):195-199.
Epub 2018 Aug 24
doi: 10.2169/internalmedicine.1218-18.
<span class="bold">PMID: </span><a href="/pubmed/30146582" target="_blank">30146582</a><a href="/pmc/articles/PMC6378155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19957223">Incidentaloma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moalem J,
Suh I,
Duh QY</span><br />
<span class="medgenPMjournal">Cancer Treat Res</span>
2010;153:119-34.
doi: 10.1007/978-1-4419-0857-5_8.
<span class="bold">PMID: </span><a href="/pubmed/19957223" target="_blank">19957223</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6773365">CT of pheochromocytoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas JL,
Bernardino ME,
Samaan NA,
Hickey RC</span><br />
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
1980 Sep;135(3):477-82.
doi: 10.2214/ajr.135.3.477.
<span class="bold">PMID: </span><a href="/pubmed/6773365" target="_blank">6773365</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma%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 (2031)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35285002">Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mete O,
Asa SL,
Gill AJ,
Kimura N,
de Krijger RR,
Tischler A</span><br />
<span class="medgenPMjournal">Endocr Pathol</span>
2022 Mar;33(1):90-114.
Epub 2022 Mar 13
doi: 10.1007/s12022-022-09704-6.
<span class="bold">PMID: </span><a href="/pubmed/35285002" target="_blank">35285002</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33159664">Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi GP,
Bisogni V,
Rossitto G,
Maiolino G,
Cesari M,
Zhu R,
Seccia TM</span><br />
<span class="medgenPMjournal">High Blood Press Cardiovasc Prev</span>
2020 Dec;27(6):547-560.
Epub 2020 Nov 7
doi: 10.1007/s40292-020-00415-9.
<span class="bold">PMID: </span><a href="/pubmed/33159664" target="_blank">33159664</a><a href="/pmc/articles/PMC7661394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32778780">Recent advances in the management of pheochromocytoma and paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tanabe A,
Naruse M</span><br />
<span class="medgenPMjournal">Hypertens Res</span>
2020 Nov;43(11):1141-1151.
Epub 2020 Aug 11
doi: 10.1038/s41440-020-0531-0.
<span class="bold">PMID: </span><a href="/pubmed/32778780" target="_blank">32778780</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27888488">Phaeochromocytoma and Paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gunawardane PTK,
Grossman A</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2017;956:239-259.
doi: 10.1007/5584_2016_76.
<span class="bold">PMID: </span><a href="/pubmed/27888488" target="_blank">27888488</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26494385">Medullary Thyroid Carcinoma: Imaging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Delorme S,
Raue F</span><br />
<span class="medgenPMjournal">Recent Results Cancer Res</span>
2015;204:91-116.
doi: 10.1007/978-3-319-22542-5_4.
<span class="bold">PMID: </span><a href="/pubmed/26494385" target="_blank">26494385</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma%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 (1980)</a></div></div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38796986">Impact of Pheochromocytoma or Paraganglioma on Bone Metabolism: A Systemic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dutta D,
Nagendra L,
Chandran M,
Sharma M,
Bhattacharya S,
Mukhopadhyay S</span><br />
<span class="medgenPMjournal">J Clin Densitom</span>
2024 Jul-Sep;27(3):101501.
Epub 2024 May 10
doi: 10.1016/j.jocd.2024.101501.
<span class="bold">PMID: </span><a href="/pubmed/38796986" target="_blank">38796986</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32125009">Clinical features, complications, and outcomes of exogenous and endogenous catecholamine-triggered Takotsubo syndrome: A systematic review and meta-analysis of 156 published cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Y-Hassan S,
Falhammar H</span><br />
<span class="medgenPMjournal">Clin Cardiol</span>
2020 May;43(5):459-467.
Epub 2020 Mar 3
doi: 10.1002/clc.23352.
<span class="bold">PMID: </span><a href="/pubmed/32125009" target="_blank">32125009</a><a href="/pmc/articles/PMC7244299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31515105">Diagnostic Accuracy of Computed Tomography to Exclude Pheochromocytoma: A Systematic Review, Meta-analysis, and Cost Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buitenwerf E,
Berends AMA,
van Asselt ADI,
Korteweg T,
Greuter MJW,
Veeger NJM,
Links TP,
Dullaart RPF,
Kerstens MN</span><br />
<span class="medgenPMjournal">Mayo Clin Proc</span>
2019 Oct;94(10):2040-2052.
Epub 2019 Sep 9
doi: 10.1016/j.mayocp.2019.03.030.
<span class="bold">PMID: </span><a href="/pubmed/31515105" target="_blank">31515105</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27048283">European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plouin PF,
Amar L,
Dekkers OM,
Fassnacht M,
Gimenez-Roqueplo AP,
Lenders JW,
Lussey-Lepoutre C,
Steichen O;
Guideline Working Group</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2016 May;174(5):G1-G10.
doi: 10.1530/EJE-16-0033.
<span class="bold">PMID: </span><a href="/pubmed/27048283" target="_blank">27048283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22325405">Minimally invasive adrenalectomy in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heloury Y,
Muthucumaru M,
Panabokke G,
Cheng W,
Kimber C,
Leclair MD</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2012 Feb;47(2):415-21.
doi: 10.1016/j.jpedsurg.2011.08.003.
<span class="bold">PMID: </span><a href="/pubmed/22325405" target="_blank">22325405</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pheochromocytoma%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 (80)</a></div></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (120)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (3)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (11)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (148)</a></li>
<li><a href="/gtr/tests?term=C0031511%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (20)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0031511%5bDISCUI%5d" target="_blank">See all (185)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pheochromocytoma%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(%22Pheochromocytoma%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/neuroendocrine.pdf">NCCN, 2023</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d4c542cde49f3df777d224">RecName: Full=Proto-oncogene tyrosine-protein kinase receptor Ret; AltName: Full...</a>
<div class="ralinkpop offscreen_noflow">RecName: Full=Proto-oncogene tyrosine-protein kinase receptor Ret; AltName: Full=Cadherin family member 12; AltName: Full=Proto-oncogene c-Ret; Contains: RecName: Full=Soluble RET kinase fragment; Contains: RecName: Full=Extracellular cell-membrane anchored RET cadherin 120 kDa fragment; Flags: Precursor<div class="brieflinkpopdesc">gi|547807|sp|P07949.3|RET_HUMAN</div></div>
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