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1040 lines
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124 KiB
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<meta name="keywords" content="C0030421, carotid body tumor, carotid body tumors, carotid body tumours, gangliocytic paraganglioma, gangliocytic paragangliomas, neoplasm of paraganglion, neoplasm of the paraganglion, neoplastic process, paraganglioma, paraganglioma, gangliocytic, paragangliomas, paragangliomata, paragangliomatas, paraganglion neoplasm, paraganglion tumor, paraganglion tumour, paraganglionic neoplasm, paraganglionic tumor, paraganglionic tumour, tumor of paraganglion, tumor of the paraganglion, tumour of paraganglion, tumour of the paraganglion, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
|
||
<!--
|
||
UID=10571
|
||
ConceptID=C0030421
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paraganglioma</div></h1><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) Click for more information.">C0030421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Carotid body tumor</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Gangliocytic paraganglioma (72787006); Paraganglioma (803009); Neoplasm of paraganglion (127027008); Gangliocytic paraganglioma (253029009); Paraganglioma (302833002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/54949">SDHAF2</a>, <a target="_blank" href="/gene/8402">SLC25A11</a>, <a target="_blank" href="/gene/6392">SDHD</a>, <a target="_blank" href="/gene/6391">SDHC</a>, <a target="_blank" href="/gene/6390">SDHB</a>, <a target="_blank" href="/gene/6389">SDHA</a>, <a target="_blank" href="/gene/1743">DLST</a></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:0002668">HP:0002668</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000448" target="_blank">MONDO:0000448</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS168000" target="_blank">PS168000</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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></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=C0030421[DISCUI]&test_type=Clinical" ref="ncbi_uid=10571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10571" ref="ncbi_uid=10571">V</a></span></span><span class="TLline">Paraganglioma</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3494181[DISCUI]&test_type=Clinical" ref="ncbi_uid=488134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=488134" target="_blank" href="/omim/168000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1548/" ref="ncbi_uid=488134">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=488134" ref="ncbi_uid=488134">V</a></span></span><span class="TLline"><a href="/medgen/488134" ref="tree=GTR&ncbi_uid=488134&link_uid=488134" title="View MedGen record for 'Paragangliomas 1'">Paragangliomas 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868633[DISCUI]&test_type=Clinical" ref="ncbi_uid=358258">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358258" ref="ncbi_uid=358258">V</a></span></span><span class="TLline"><a href="/medgen/358258" ref="tree=GTR&ncbi_uid=358258&link_uid=358258" title="View MedGen record for 'Paragangliomas with sensorineural hearing loss'">Paragangliomas with sensorineural hearing loss</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866552[DISCUI]&test_type=Clinical" ref="ncbi_uid=357076">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357076" target="_blank" href="/omim/601650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1548/" ref="ncbi_uid=357076">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357076" ref="ncbi_uid=357076">V</a></span></span><span class="TLline"><a href="/medgen/357076" ref="tree=GTR&ncbi_uid=357076&link_uid=357076" title="View MedGen record for 'Paragangliomas 2'">Paragangliomas 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854336[DISCUI]&test_type=Clinical" ref="ncbi_uid=340200">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340200" target="_blank" href="/omim/602413">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1548/" ref="ncbi_uid=340200">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340200" ref="ncbi_uid=340200">V</a></span></span><span class="TLline"><a href="/medgen/340200" ref="tree=GTR&ncbi_uid=340200&link_uid=340200" title="View MedGen record for 'Paragangliomas 3'">Paragangliomas 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861848[DISCUI]&test_type=Clinical" ref="ncbi_uid=349380">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349380" target="_blank" href="/omim/115310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1548/" ref="ncbi_uid=349380">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349380" ref="ncbi_uid=349380">V</a></span></span><span class="TLline"><a href="/medgen/349380" ref="tree=GTR&ncbi_uid=349380&link_uid=349380" title="View MedGen record for 'Paragangliomas 4'">Paragangliomas 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279992[DISCUI]&test_type=Clinical" ref="ncbi_uid=481622">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481622" target="_blank" href="/omim/600857">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1548/" ref="ncbi_uid=481622">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481622" ref="ncbi_uid=481622">V</a></span></span><span class="TLline"><a href="/medgen/481622" ref="tree=GTR&ncbi_uid=481622&link_uid=481622" title="View MedGen record for 'Paragangliomas 5'">Paragangliomas 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1681559" target="_blank" href="/omim/604165">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1681559" ref="ncbi_uid=1681559">V</a></span></span><span class="TLline"><a href="/medgen/1681559" ref="tree=GTR&ncbi_uid=1681559&link_uid=1681559" title="View MedGen record for 'Paragangliomas 6'">Paragangliomas 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5193116[DISCUI]&test_type=Clinical" ref="ncbi_uid=1673088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1673088" target="_blank" href="/omim/126063">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1673088" ref="ncbi_uid=1673088">V</a></span></span><span class="TLline"><a href="/medgen/1673088" ref="tree=GTR&ncbi_uid=1673088&link_uid=1673088" title="View MedGen record for 'Paragangliomas 7'">Paragangliomas 7</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/45046" ref="tree=MeSH" title="MedGen record for Neoplasm of the nervous system">Neoplasm of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/45817" ref="tree=MeSH" title="MedGen record for Neoplasm of the peripheral nervous system">Neoplasm of the peripheral nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/231389" ref="tree=MeSH" title="MedGen record for Autonomic nervous system neoplasm">Autonomic nervous system neoplasm</a></span><ul><li><span class="matched_ds">Paraganglioma</span><ul><li><span class="TLline"><a href="/medgen/2853" ref="tree=MeSH" title="MedGen record for Carotid body paraganglioma">Carotid body paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/396868" ref="tree=MeSH" title="MedGen record for Benign carotid body paraganglioma">Benign carotid body paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/56318" ref="tree=MeSH" title="MedGen record for Malignant carotid body paraganglioma">Malignant carotid body paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1677462" ref="tree=MeSH" title="MedGen record for Composite Paraganglioma">Composite Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/317355" ref="tree=MeSH" title="MedGen record for Adrenal Gland Composite Pheochromocytoma">Adrenal Gland Composite Pheochromocytoma</a></span><ul><li><span class="TLline"><a href="/medgen/457126" ref="tree=MeSH" title="MedGen record for Metastatic Adrenal Gland Composite Pheochromocytoma">Metastatic Adrenal Gland Composite Pheochromocytoma</a></span></li><li><span class="TLline"><a href="/medgen/457123" ref="tree=MeSH" title="MedGen record for Non-Metastatic Adrenal Gland Composite Pheochromocytoma">Non-Metastatic Adrenal Gland Composite Pheochromocytoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/18289" ref="tree=MeSH" title="MedGen record for Extra-Adrenal Paraganglioma">Extra-Adrenal Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/232026" ref="tree=MeSH" title="MedGen record for Cardiac Paraganglioma">Cardiac Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/231084" ref="tree=MeSH" title="MedGen record for Atrial Paraganglioma">Atrial Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/233145" ref="tree=MeSH" title="MedGen record for Metastatic Cardiac Paraganglioma">Metastatic Cardiac Paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232042" ref="tree=MeSH" title="MedGen record for Central Nervous System Paraganglioma">Central Nervous System Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/272437" ref="tree=MeSH" title="MedGen record for Cauda equina neuroendocrine tumor">Cauda equina neuroendocrine tumor</a></span></li><li><span class="TLline"><a href="/medgen/313984" ref="tree=MeSH" title="MedGen record for Cerebellar Paraganglioma">Cerebellar Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/1663208" ref="tree=MeSH" title="MedGen record for Sellar Paraganglioma">Sellar Paraganglioma</a></span></li></ul></li><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></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></li><li><span class="TLline"><a href="/medgen/232668" ref="tree=MeSH" title="MedGen record for Intrathoracic Paravertebral Paraganglioma">Intrathoracic Paravertebral Paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4905" ref="tree=MeSH" title="MedGen record for Glomus jugular tumor">Glomus jugular tumor</a></span><ul><li><span class="TLline"><a href="/medgen/87584" ref="tree=MeSH" title="MedGen record for Malignant jugulotympanic paraganglioma">Malignant jugulotympanic paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/233190" ref="tree=MeSH" title="MedGen record for Middle Ear Paraganglioma">Middle Ear Paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/235223" ref="tree=MeSH" title="MedGen record for Intra-Abdominal Paraganglioma">Intra-Abdominal Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/474118" ref="tree=MeSH" title="MedGen record for Ampulla of Vater Gangliocytic Paraganglioma">Ampulla of Vater Gangliocytic Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/233568" ref="tree=MeSH" title="MedGen record for Intestinal Composite Gangliocytoma/Neuroma and Neuroendocrine Tumor">Intestinal Composite Gangliocytoma/Neuroma and Neuroendocrine Tumor</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87237" ref="tree=MeSH" title="MedGen record for Metastatic Extra-Adrenal Paraganglioma">Metastatic Extra-Adrenal 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><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><li><span class="TLline"><a href="/medgen/232588" ref="tree=MeSH" title="MedGen record for Paraganglioma of head and neck">Paraganglioma of head and neck</a></span><ul><li><span class="TLline"><a href="/medgen/235253" ref="tree=MeSH" title="MedGen record for Laryngeal Paraganglioma">Laryngeal Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/313474" ref="tree=MeSH" title="MedGen record for Nasopharyngeal Paraganglioma">Nasopharyngeal Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/235409" ref="tree=MeSH" title="MedGen record for Orbit Paraganglioma">Orbit Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/328114" ref="tree=MeSH" title="MedGen record for Thyroid Gland Paraganglioma">Thyroid Gland Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/105375" ref="tree=MeSH" title="MedGen record for Tympanic paraganglioma">Tympanic paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/141635" ref="tree=MeSH" title="MedGen record for Vagus nerve paraganglioma">Vagus nerve paraganglioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90779" ref="tree=MeSH" title="MedGen record for Parasympathetic paraganglioma">Parasympathetic paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/310995" ref="tree=MeSH" title="MedGen record for Mediastinal Paraganglioma">Mediastinal Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/87236" ref="tree=MeSH" title="MedGen record for Neoplasm of aortic body">Neoplasm of aortic body</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1694844" ref="tree=MeSH" title="MedGen record for Paratesticular Paraganglioma">Paratesticular Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/1698023" ref="tree=MeSH" title="MedGen record for Prostate Paraganglioma">Prostate Paraganglioma</a></span></li><li><span class="TLline"><a href="/medgen/234462" ref="tree=MeSH" title="MedGen record for Urinary System Paraganglioma">Urinary System Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/1686753" ref="tree=MeSH" title="MedGen record for Kidney Paraganglioma">Kidney Paraganglioma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/234344" ref="tree=MeSH" title="MedGen record for Hereditary Paraganglioma">Hereditary Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/1678364" ref="tree=MeSH" title="MedGen record for Hereditary Adrenal Gland Pheochromocytoma">Hereditary Adrenal Gland Pheochromocytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/288558" ref="tree=MeSH" title="MedGen record for Metastatic Paraganglioma">Metastatic Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/87238" ref="tree=MeSH" title="MedGen record for Malignant adrenal gland pheochromocytoma">Malignant adrenal gland pheochromocytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473084" ref="tree=MeSH" title="MedGen record for Non-Metastatic Paraganglioma">Non-Metastatic Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/317403" ref="tree=MeSH" title="MedGen record for Benign adrenal gland pheochromocytoma">Benign adrenal gland pheochromocytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488134" ref="tree=MeSH" title="MedGen record for Paragangliomas 1">Paragangliomas 1</a></span><ul><li><span class="TLline"><a href="/medgen/358258" ref="tree=MeSH" title="MedGen record for Paragangliomas with sensorineural hearing loss">Paragangliomas with sensorineural hearing loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/357076" ref="tree=MeSH" title="MedGen record for Paragangliomas 2">Paragangliomas 2</a></span></li><li><span class="TLline"><a href="/medgen/340200" ref="tree=MeSH" title="MedGen record for Paragangliomas 3">Paragangliomas 3</a></span></li><li><span class="TLline"><a href="/medgen/349380" ref="tree=MeSH" title="MedGen record for Paragangliomas 4">Paragangliomas 4</a></span></li><li><span class="TLline"><a href="/medgen/481622" ref="tree=MeSH" title="MedGen record for Paragangliomas 5">Paragangliomas 5</a></span></li><li><span class="TLline"><a href="/medgen/1681559" ref="tree=MeSH" title="MedGen record for Paragangliomas 6">Paragangliomas 6</a></span></li><li><span class="TLline"><a href="/medgen/1673088" ref="tree=MeSH" title="MedGen record for Paragangliomas 7">Paragangliomas 7</a></span></li><li><span class="TLline"><a href="/medgen/18419" ref="tree=MeSH" title="MedGen record for Pheochromocytoma">Pheochromocytoma</a></span></li><li><span class="TLline"><a href="/medgen/1673963" ref="tree=MeSH" title="MedGen record for Recurrent Paraganglioma">Recurrent Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/318113" ref="tree=MeSH" title="MedGen record for Recurrent Adrenal Gland Pheochromocytoma">Recurrent Adrenal Gland Pheochromocytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1682526" ref="tree=MeSH" title="MedGen record for Refractory Paraganglioma">Refractory Paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/1673295" ref="tree=MeSH" title="MedGen record for Refractory Adrenal Gland Pheochromocytoma">Refractory Adrenal Gland Pheochromocytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137758" ref="tree=MeSH" title="MedGen record for Sympathetic paraganglioma">Sympathetic paraganglioma</a></span><ul><li><span class="TLline"><a href="/medgen/1644304" ref="tree=MeSH" title="MedGen record for Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma by AJCC v8 Stage">Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma by AJCC v8 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1638879" ref="tree=MeSH" title="MedGen record for Stage I Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8">Stage I Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1640521" ref="tree=MeSH" title="MedGen record for Stage II Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8">Stage II Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1637568" ref="tree=MeSH" title="MedGen record for Stage III Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8">Stage III Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1647299" ref="tree=MeSH" title="MedGen record for Stage IV Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8">Stage IV Adrenal Gland Pheochromocytoma and Sympathetic Paraganglioma AJCC v8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1636437" ref="tree=MeSH" title="MedGen record for Adrenal pheochromocytoma">Adrenal pheochromocytoma</a></span><ul><li><span class="TLline"><a href="/medgen/859271" ref="tree=MeSH" title="MedGen record for Childhood adrenal gland pheochromocytoma">Childhood adrenal gland pheochromocytoma</a></span></li><li><span class="TLline"><a href="/medgen/318115" ref="tree=MeSH" title="MedGen record for Regional Adrenal Gland Pheochromocytoma">Regional Adrenal Gland Pheochromocytoma</a></span></li><li><span class="TLline"><a href="/medgen/1681030" ref="tree=MeSH" title="MedGen record for Unresectable Adrenal Gland Pheochromocytoma">Unresectable Adrenal Gland Pheochromocytoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1678866" ref="tree=MeSH" title="MedGen record for Unresectable Paraganglioma">Unresectable Paraganglioma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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>
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<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) Click for more information.">C0019562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/42458">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376098"><div><strong>Carney-Stratakis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376098</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) Click for more information.">C1847319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376098">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340200"><div><strong>Paragangliomas 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340200</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) Click for more information.">C1854336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340200">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349380"><div><strong>Paragangliomas 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349380</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) Click for more information.">C1861848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349380">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481622"><div><strong>Paragangliomas 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481622</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) Click for more information.">C3279992</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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/481622">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681559"><div><strong>Paragangliomas 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681559</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) Click for more information.">C5193112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pheochromocytoma/paraganglioma syndrome-6 (PPGL6) is an autosomal dominant adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by Buffet et al., 2018). For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681559">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) 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). 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_376098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carney-Stratakis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paragangliomas 6</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_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/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 class="nl"><a target="_blank" href="/pubmed/24893135">Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenders JW,
|
||
Duh QY,
|
||
Eisenhofer G,
|
||
Gimenez-Roqueplo AP,
|
||
Grebe SK,
|
||
Murad MH,
|
||
Naruse M,
|
||
Pacak K,
|
||
Young WF Jr;
|
||
Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2014 Jun;99(6):1915-42.
|
||
doi: 10.1210/jc.2014-1498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24893135" target="_blank">24893135</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22paraganglioma%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 (304)</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_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/38453430">Phaeochromocytoma and paraganglioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarling JA,
|
||
Kumar R,
|
||
Ward LJ,
|
||
Boot C,
|
||
Wassif WS</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2024 Jul 18;77(8):507-516.
|
||
doi: 10.1136/jcp-2023-209234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38453430" target="_blank">38453430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36252779">Paraganglioma of the Head and Neck: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sandow L,
|
||
Thawani R,
|
||
Kim MS,
|
||
Heinrich MC</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2023 Feb;29(2):141-147.
|
||
Epub 2022 Oct 15
|
||
doi: 10.1016/j.eprac.2022.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36252779" target="_blank">36252779</a><a href="/pmc/articles/PMC9979593" target="_blank" class="PubMedFree">Free PMC Article</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/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/26230601">Thyroid Paraganglioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SM,
|
||
Policarpio-Nicolas ML</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
2015 Aug;139(8):1062-7.
|
||
doi: 10.5858/arpa.2013-0703-RS.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26230601" target="_blank">26230601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paraganglioma%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 (1771)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34266641">Thyroid-associated paraganglioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García Pascual L,
|
||
González Mínguez C,
|
||
Elías Mas A</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Diabetes Nutr (Engl Ed)</span>
|
||
2021 Apr;68(4):288-289.
|
||
Epub 2021 Jul 6
|
||
doi: 10.1016/j.endien.2021.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34266641" target="_blank">34266641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28431713">Mediastinal Paraganglioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchanan SN,
|
||
Radecki KM,
|
||
Chambers LW</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2017 May;103(5):e413-e414.
|
||
doi: 10.1016/j.athoracsur.2016.10.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28431713" target="_blank">28431713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26610778">Pheochromocytoma and Paraganglioma: Diagnosis, Genetics, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiernan CM,
|
||
Solórzano CC</span><br />
|
||
<span class="medgenPMjournal">Surg Oncol Clin N Am</span>
|
||
2016 Jan;25(1):119-38.
|
||
doi: 10.1016/j.soc.2015.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26610778" target="_blank">26610778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24636754">Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martucci VL,
|
||
Pacak K</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Cancer</span>
|
||
2014 Jan-Feb;38(1):7-41.
|
||
Epub 2014 Jan 15
|
||
doi: 10.1016/j.currproblcancer.2014.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24636754" target="_blank">24636754</a><a href="/pmc/articles/PMC3992879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22173680">Aorticopulmonary paraganglioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hato T,
|
||
Kaseda K,
|
||
Harada M,
|
||
Horio H</span><br />
|
||
<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
|
||
2011 Dec;59(12):812-4.
|
||
Epub 2011 Dec 16
|
||
doi: 10.1007/s11748-010-0769-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22173680" target="_blank">22173680</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paraganglioma%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 (3609)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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>
|
||
|
||
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Takeshita S,
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Kawasaki H,
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Bisogni V,
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<div class="nl"><a target="_blank" href="/pubmed/29166454">The clinical genetics of phaeochromocytoma and paraganglioma.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paraganglioma%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 (1036)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
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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="portlet_content ln">
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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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dutta D,
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Nagendra L,
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Chandran M,
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Bhattacharya S,
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Mukhopadhyay S</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38796986" target="_blank">38796986</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36325453">Silent pheochromocytoma and paraganglioma: Systematic review and proposed definitions for standardized terminology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Constantinescu G,
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Preda C,
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Constantinescu V,
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Siepmann T,
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Bornstein SR,
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Lenders JWM,
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Eisenhofer G,
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<div class="nl"><a target="_blank" href="/pubmed/33380646">Thyroid paraganglioma: A case-based systematic review of literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mishra P,
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Padhi S,
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Y-Hassan S,
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<span class="medgenPMjournal">Clin Cardiol</span>
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||
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||
<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Plouin PF,
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Amar L,
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Dekkers OM,
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Fassnacht M,
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Gimenez-Roqueplo AP,
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Lenders JW,
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Lussey-Lepoutre C,
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<span class="bold">PMID: </span><a href="/pubmed/27048283" target="_blank">27048283</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paraganglioma%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 (72)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0030421%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0030421%5bDISCUI%5d" target="_blank">See all (3)</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=(%22paraganglioma%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(%22Paraganglioma%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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