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<meta name="keywords" content="C1840402, cdc73, cdc73-related familial isolated hyperparathyroidism, disease or syndrome, hrpt1, hyperparathyroidism 1, hyperparathyroidism type 1, hyperparathyroidism, familial isolated primary, hyperparathyroidism, familial primary, parathyroid adenoma, familial, 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="The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood. HPT-JT syndrome-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In at least 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Up to 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign uterine tumors appear to be common in women with HPT-JT syndrome; uterine malignancies have also been reported. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in primary hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with parathyroid carcinoma without a known family history of CDC73-related conditions. Familial isolated hyperparathyroidism (FIHP). Characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=333554
|
||
ConceptID=C1840402
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperparathyroidism 1<span class="h1sub">(HRPT1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333554</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.">C1840402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CDC73-Related Familial Isolated Hyperparathyroidism; HRPT1; HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY</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">Gene (location):<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="CDC73 - ID: 79577 - NCBI Gene" href="/gene/79577" class="medgenPMinfo">CDC73</a> (1q31.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007767" target="_blank">MONDO:0007767</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/145000" target="_blank">145000</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_101">
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||
<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/NBK3789" target="_blank">CDC73-Related Disorders</a></div><div>The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism occurs in a vast majority of affected individuals, with onset typically in late adolescence or early adulthood. HPT-JT syndrome-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In at least 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Up to 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign uterine tumors appear to be common in women with HPT-JT syndrome; uterine malignancies have also been reported. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in primary hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with parathyroid carcinoma without a known family history of CDC73-related conditions. Familial isolated hyperparathyroidism (FIHP). Characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified. [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/NBK3789#hrpt2.Summary" target="NBK3789">Summary</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.GeneReview_Scope" target="NBK3789">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Diagnosis" target="NBK3789">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Clinical_Characteristics" target="NBK3789">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Genetically_Related_Allelic_Disord" target="NBK3789">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Differential_Diagnosis" target="NBK3789">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Management" target="NBK3789">Management</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Genetic_Counseling" target="NBK3789">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Resources" target="NBK3789">Resources</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Molecular_Genetics" target="NBK3789">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.Chapter_Notes" target="NBK3789">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK3789#hrpt2.References" target="NBK3789">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Catherine M Skefos | Steven G Waguespack | Nancy D Perrier<i>, et. al.</i> <a href="/books/NBK3789" target="NBK3789" title="NCBI Bookshelf: CDC73-Related Disorders">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 />Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015).
|
||
Genetic Heterogeneity of Familial Hyperparathyroidism
|
||
Hyperparathyroidism-2 with jaw tumors (HRPT2; 145001), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3; 610071) has been mapped to chromosome 2p14-p13.3. HRPT4 (617343) is caused by mutation in the GCM2 gene (603716) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT; 239200) is caused by mutation in the CASR gene (601199) on chromosome 3q.
|
||
Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, 131100).
|
||
Familial hypocalciuric hypercalcemia (see 145980) can be confused with familial primary hyperparathyroidism. <a target="_blank" href="http://www.omim.org/entry/145000">http://www.omim.org/entry/145000</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolated hyperparathyroidism, one or more overactive parathyroid glands release excess parathyroid hormone, which causes the levels of calcium in the blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of calcium from bone and the absorption of calcium from the diet, and the mineral is then released into the bloodstream.<br /><br />In people with familial isolated hyperparathyroidism, the production of excess parathyroid hormone is caused by tumors that involve the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, more than one gland develops a tumor. The tumors are usually noncancerous (benign), in which case they are called adenomas. Rarely, people with familial isolated hyperparathyroidism develop a cancerous tumor called parathyroid carcinoma. Because the production of excess parathyroid hormone is caused by abnormalities of the parathyroid glands, familial isolated hyperparathyroidism is considered a form of primary hyperparathyroidism.<br /><br />Disruption of the normal calcium balance resulting from overactive parathyroid glands causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Because calcium is removed from bones to be released into the bloodstream, hyperparathyroidism often causes thinning of the bones (osteoporosis). The age at which familial isolated hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the first indication of the condition is elevated calcium levels identified through a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism">https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism</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_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) 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_66354"><div><strong>Primary hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66354</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.">C0221002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66354">Feature record</a> | <a href="/medgen?term=%22Primary%20hyperparathyroidism%22%5BClinical%20Features%5D%20OR%2066354%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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").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 endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66354" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperparathyroidism</a></span></li></ul></li></ul></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/19290572">Remedial operation for primary hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prescott JD,
|
||
Udelsman R</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
2009 Nov;33(11):2324-34.
|
||
doi: 10.1007/s00268-009-9962-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19290572" target="_blank">19290572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16430712">Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetani F,
|
||
Pardi E,
|
||
Ambrogini E,
|
||
Lemmi M,
|
||
Borsari S,
|
||
Cianferotti L,
|
||
Vignali E,
|
||
Viacava P,
|
||
Berti P,
|
||
Mariotti S,
|
||
Pinchera A,
|
||
Marcocci C</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2006 Feb;64(2):146-52.
|
||
doi: 10.1111/j.1365-2265.2006.02438.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16430712" target="_blank">16430712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12016473">Patient-based surgical outcome tool demonstrating alleviation of symptoms following parathyroidectomy in patients with primary hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasieka JL,
|
||
Parsons LL,
|
||
Demeure MJ,
|
||
Wilson S,
|
||
Malycha P,
|
||
Jones J,
|
||
Krzywda B</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
2002 Aug;26(8):942-9.
|
||
Epub 2002 May 21
|
||
doi: 10.1007/s00268-002-6623-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12016473" target="_blank">12016473</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperparathyroidism%201%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 (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_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/36319824">Determinants of Secondary Hyperparathyroidism 1 Year After One-Anastomosis Gastric Bypass or Sleeve Gastrectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barzin M,
|
||
Ebadinejad A,
|
||
Khalaj A,
|
||
Mahdavi M,
|
||
Valizadeh M,
|
||
Hosseinpanah F</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2023 Jan;33(1):156-163.
|
||
Epub 2022 Nov 1
|
||
doi: 10.1007/s11695-022-06337-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36319824" target="_blank">36319824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36244806">Hyperparathyroidism at 1 year after kidney transplantation is associated with graft loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crepeau P,
|
||
Chen X,
|
||
Udyavar R,
|
||
Morris-Wiseman LF,
|
||
Segev DL,
|
||
McAdams-DeMarco M,
|
||
Mathur A</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2023 Jan;173(1):138-145.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1016/j.surg.2022.07.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36244806" target="_blank">36244806</a><a href="/pmc/articles/PMC10443692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34266650">Prevalence and risk factors for tertiary hyperparathyroidism in kidney transplant recipients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutton W,
|
||
Chen X,
|
||
Patel P,
|
||
Karzai S,
|
||
Prescott JD,
|
||
Segev DL,
|
||
McAdams-DeMarco M,
|
||
Mathur A</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2022 Jan;171(1):69-76.
|
||
Epub 2021 Jul 12
|
||
doi: 10.1016/j.surg.2021.03.067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34266650" target="_blank">34266650</a><a href="/pmc/articles/PMC8688275" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15772795">Unusual presentation of a giant parathyroid adenoma: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Power C,
|
||
Kavanagh D,
|
||
Hill AD,
|
||
O'Higgins N,
|
||
McDermott E</span><br />
|
||
<span class="medgenPMjournal">Surg Today</span>
|
||
2005;35(3):235-7.
|
||
doi: 10.1007/s00595-004-2902-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15772795" target="_blank">15772795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15608509">Outpatient parathyroidectomy: a new paradigm from a nursing perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan PI</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Oncol</span>
|
||
2005 Jan;17(1):28-32.
|
||
doi: 10.1097/01.cco.0000149605.21474.55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15608509" target="_blank">15608509</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%201%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 (53)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36922339">Parathyroid Imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lalonde MN,
|
||
Correia RD,
|
||
Syktiotis GP,
|
||
Schaefer N,
|
||
Matter M,
|
||
Prior JO</span><br />
|
||
<span class="medgenPMjournal">Semin Nucl Med</span>
|
||
2023 Jul;53(4):490-502.
|
||
Epub 2023 Mar 14
|
||
doi: 10.1053/j.semnuclmed.2023.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36922339" target="_blank">36922339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34266650">Prevalence and risk factors for tertiary hyperparathyroidism in kidney transplant recipients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutton W,
|
||
Chen X,
|
||
Patel P,
|
||
Karzai S,
|
||
Prescott JD,
|
||
Segev DL,
|
||
McAdams-DeMarco M,
|
||
Mathur A</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2022 Jan;171(1):69-76.
|
||
Epub 2021 Jul 12
|
||
doi: 10.1016/j.surg.2021.03.067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34266650" target="_blank">34266650</a><a href="/pmc/articles/PMC8688275" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34681865">Parathyroid Tumors: Molecular Signatures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marini F,
|
||
Giusti F,
|
||
Iantomasi T,
|
||
Brandi ML</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Oct 18;22(20)
|
||
doi: 10.3390/ijms222011206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34681865" target="_blank">34681865</a><a href="/pmc/articles/PMC8540444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32376047">Genetic testing in endocrine surgery: Opportunities for precision surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alobuia W,
|
||
Annes J,
|
||
Kebebew E</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2020 Aug;168(2):328-334.
|
||
Epub 2020 May 4
|
||
doi: 10.1016/j.surg.2020.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32376047" target="_blank">32376047</a><a href="/pmc/articles/PMC7724998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9445240">Parathyroid carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cordeiro AC,
|
||
Montenegro FL,
|
||
Kulcsar MA,
|
||
Dellanegra LA,
|
||
Tavares MR,
|
||
Michaluart P Jr,
|
||
Ferraz AR</span><br />
|
||
<span class="medgenPMjournal">Am J Surg</span>
|
||
1998 Jan;175(1):52-5.
|
||
doi: 10.1016/s0002-9610(97)00228-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9445240" target="_blank">9445240</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%201%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36563936">Spectrum of renal dysfunction after curative parathyroidectomy in symptomatic primary hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gosavi V,
|
||
Lila A,
|
||
Memon SS,
|
||
Sarathi V,
|
||
Goroshi M,
|
||
Jamale T,
|
||
Thakare S,
|
||
Phadte A,
|
||
Patil V,
|
||
Bandgar T</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2023 Feb;84(1):14-20.
|
||
Epub 2022 Dec 20
|
||
doi: 10.1016/j.ando.2022.10.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36563936" target="_blank">36563936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36319824">Determinants of Secondary Hyperparathyroidism 1 Year After One-Anastomosis Gastric Bypass or Sleeve Gastrectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barzin M,
|
||
Ebadinejad A,
|
||
Khalaj A,
|
||
Mahdavi M,
|
||
Valizadeh M,
|
||
Hosseinpanah F</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2023 Jan;33(1):156-163.
|
||
Epub 2022 Nov 1
|
||
doi: 10.1007/s11695-022-06337-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36319824" target="_blank">36319824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36244806">Hyperparathyroidism at 1 year after kidney transplantation is associated with graft loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crepeau P,
|
||
Chen X,
|
||
Udyavar R,
|
||
Morris-Wiseman LF,
|
||
Segev DL,
|
||
McAdams-DeMarco M,
|
||
Mathur A</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2023 Jan;173(1):138-145.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1016/j.surg.2022.07.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36244806" target="_blank">36244806</a><a href="/pmc/articles/PMC10443692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35710357">Elevated parathyroid hormone one year after kidney transplantation is an independent risk factor for graft loss even without hypercalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okada M,
|
||
Tominaga Y,
|
||
Sato T,
|
||
Tomosugi T,
|
||
Futamura K,
|
||
Hiramitsu T,
|
||
Ichimori T,
|
||
Goto N,
|
||
Narumi S,
|
||
Kobayashi T,
|
||
Uchida K,
|
||
Watarai Y</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2022 Jun 17;23(1):212.
|
||
doi: 10.1186/s12882-022-02840-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35710357" target="_blank">35710357</a><a href="/pmc/articles/PMC9205154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34266650">Prevalence and risk factors for tertiary hyperparathyroidism in kidney transplant recipients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutton W,
|
||
Chen X,
|
||
Patel P,
|
||
Karzai S,
|
||
Prescott JD,
|
||
Segev DL,
|
||
McAdams-DeMarco M,
|
||
Mathur A</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2022 Jan;171(1):69-76.
|
||
Epub 2021 Jul 12
|
||
doi: 10.1016/j.surg.2021.03.067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34266650" target="_blank">34266650</a><a href="/pmc/articles/PMC8688275" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%201%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 (26)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36319824">Determinants of Secondary Hyperparathyroidism 1 Year After One-Anastomosis Gastric Bypass or Sleeve Gastrectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barzin M,
|
||
Ebadinejad A,
|
||
Khalaj A,
|
||
Mahdavi M,
|
||
Valizadeh M,
|
||
Hosseinpanah F</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2023 Jan;33(1):156-163.
|
||
Epub 2022 Nov 1
|
||
doi: 10.1007/s11695-022-06337-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36319824" target="_blank">36319824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35902104">Intraoperative parathormone monitoring to predict operative success in patients with normohormonal hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stuart H,
|
||
Azab B,
|
||
Roque OP,
|
||
Pasieka J,
|
||
Lew JI</span><br />
|
||
<span class="medgenPMjournal">Can J Surg</span>
|
||
2022 Jul-Aug;65(4):E468-E473.
|
||
Epub 2022 Jul 28
|
||
doi: 10.1503/cjs.013220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35902104" target="_blank">35902104</a><a href="/pmc/articles/PMC9343013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28493416">Parathyroidectomy for the treatment of hyperparathyroidism: Thirty-day morbidity and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JA,
|
||
Salapatas AM,
|
||
Bonzelaar LB,
|
||
Friedman M</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2018 Feb;128(2):528-533.
|
||
Epub 2017 May 11
|
||
doi: 10.1002/lary.26604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28493416" target="_blank">28493416</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15772795">Unusual presentation of a giant parathyroid adenoma: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Power C,
|
||
Kavanagh D,
|
||
Hill AD,
|
||
O'Higgins N,
|
||
McDermott E</span><br />
|
||
<span class="medgenPMjournal">Surg Today</span>
|
||
2005;35(3):235-7.
|
||
doi: 10.1007/s00595-004-2902-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15772795" target="_blank">15772795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9445240">Parathyroid carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cordeiro AC,
|
||
Montenegro FL,
|
||
Kulcsar MA,
|
||
Dellanegra LA,
|
||
Tavares MR,
|
||
Michaluart P Jr,
|
||
Ferraz AR</span><br />
|
||
<span class="medgenPMjournal">Am J Surg</span>
|
||
1998 Jan;175(1):52-5.
|
||
doi: 10.1016/s0002-9610(97)00228-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9445240" target="_blank">9445240</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%201%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38130397">GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szalat A,
|
||
Shpitzen S,
|
||
Pollack R,
|
||
Mazeh H,
|
||
Durst R,
|
||
Meiner V</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1254156.
|
||
Epub 2023 Dec 7
|
||
doi: 10.3389/fendo.2023.1254156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38130397" target="_blank">38130397</a><a href="/pmc/articles/PMC10733520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36319824">Determinants of Secondary Hyperparathyroidism 1 Year After One-Anastomosis Gastric Bypass or Sleeve Gastrectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barzin M,
|
||
Ebadinejad A,
|
||
Khalaj A,
|
||
Mahdavi M,
|
||
Valizadeh M,
|
||
Hosseinpanah F</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2023 Jan;33(1):156-163.
|
||
Epub 2022 Nov 1
|
||
doi: 10.1007/s11695-022-06337-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36319824" target="_blank">36319824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35902104">Intraoperative parathormone monitoring to predict operative success in patients with normohormonal hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stuart H,
|
||
Azab B,
|
||
Roque OP,
|
||
Pasieka J,
|
||
Lew JI</span><br />
|
||
<span class="medgenPMjournal">Can J Surg</span>
|
||
2022 Jul-Aug;65(4):E468-E473.
|
||
Epub 2022 Jul 28
|
||
doi: 10.1503/cjs.013220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35902104" target="_blank">35902104</a><a href="/pmc/articles/PMC9343013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28493416">Parathyroidectomy for the treatment of hyperparathyroidism: Thirty-day morbidity and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JA,
|
||
Salapatas AM,
|
||
Bonzelaar LB,
|
||
Friedman M</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2018 Feb;128(2):528-533.
|
||
Epub 2017 May 11
|
||
doi: 10.1002/lary.26604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28493416" target="_blank">28493416</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8636276">Differences in bone and vitamin D metabolism between primary hyperparathyroidism and malignancy-associated hypercalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakayama K,
|
||
Fukumoto S,
|
||
Takeda S,
|
||
Takeuchi Y,
|
||
Ishikawa T,
|
||
Miura M,
|
||
Hata K,
|
||
Hane M,
|
||
Tamura Y,
|
||
Tanaka Y,
|
||
Kitaoka M,
|
||
Obara T,
|
||
Ogata E,
|
||
Matsumoto T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1996 Feb;81(2):607-11.
|
||
doi: 10.1210/jcem.81.2.8636276.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8636276" target="_blank">8636276</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%201%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 (25)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1840402%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C1840402%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1840402%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C1840402%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1840402%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=145000" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperparathyroidism%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperparathyroidism%201%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(%22Hyperparathyroidism%201%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607393" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=79577[geneid]" target="_blank">View CDC73 variations in ClinVar</a></li><li><a href="/nuccore/255958276" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=145000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hyperparathyroidism+1/8597" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hyperparathyroidism_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyperparathyroidism%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18253/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301744" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hyperparathyroidism%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hyperparathyroidism%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=333554" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=333554" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1840402[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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