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<meta name="keywords" content="C1704981, cdc73, disease or syndrome, familial cystic parathyroid adenomatosis, familial primary hyperparathyroidism with multiple ossifying jaw fibromas, hereditary hyperparathyroidism-jaw tumor syndrome, hereditary hyperparathyroidism-jaw tumour syndrome, hpt-jt, hrpt2, hyperparathyroidism 2, hyperparathyroidism 2 with jaw tumors, hyperparathyroidism jaw tumor syndrome, hyperparathyroidism type 2, hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas, hyperparathyroidism-2, hyperparathyroidism-jaw tumor syndrome, hyperparathyroidism-jaw tumor syndrome, hereditary, hyperparathyroidism-jaw tumour syndrome, hyperparathyroidism-jaw tumour syndrome, hereditary, parathyroid adenoma with cystic changes, parathyroid adenomatosis, familial cystic, 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=310065
|
||
ConceptID=C1704981
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperparathyroidism 2 with jaw tumors<span class="h1sub">(HPT-JT; HRPT2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>310065</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.">C1704981</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>Hyperparathyroidism 2; HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS; Hyperparathyroidism-Jaw Tumor Syndrome; HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperparathyroidism 2 (702378002); Hyperparathyroidism-jaw tumor syndrome (702378002); Familial primary hyperparathyroidism with multiple ossifying jaw fibromas (702378002); Familial cystic parathyroid adenomatosis (702378002)</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:0007768" target="_blank">MONDO:0007768</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/145001" target="_blank">145001</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99880">ORPHA99880</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">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>
|
||
|
||
<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 />Hyperparathyroidism-2 with jaw tumors (HRPT2) is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).
|
||
For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (145000). <a target="_blank" href="http://www.omim.org/entry/145001">http://www.omim.org/entry/145001</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. About 95 percent of people with hyperparathyroidism-jaw tumor syndrome will develop hyperparathyroidism during their lifetime.<br /><br />In people with hyperparathyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in the parathyroid glands. Typically, only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. The tumors are usually a noncancerous (benign) type of tumor called an adenoma. Approximately 15 percent of people with hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called parathyroid carcinoma. <br /><br />People with hyperparathyroidism-jaw tumor syndrome may also have a type of benign tumor called a fibroma in the jaw. Even though jaw tumors are specified in the name of this condition, it is estimated that only 11 to 40 percent of affected individuals have this symptom.<br /><br />Other tumors, both benign and cancerous, are often seen in people with hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur in up to 50 percent of people with this condition. Uterine tumors are typically benign, but they can cause heavy menstrual bleeding or other symptoms. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign kidney cysts are the most common kidney feature, but a rare cancerous tumor called Wilms tumor and other types of kidney tumor have also been found.<br /><br />Regular medical screening may assist in the early detection of the features of hyperparathyroidism-jaw tumor syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome">https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_6713"><div><strong>Hamartoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6713</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.">C0018552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6713">Feature record</a> | <a href="/medgen?term=%22Hamartoma%22%5BClinical%20Features%5D%20OR%206713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10221"><div><strong>Nephroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10221</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.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10221">Feature record</a> | <a href="/medgen?term=%22Nephroblastoma%22%5BClinical%20Features%5D%20OR%2010221%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75502"><div><strong>Parathyroid gland adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75502</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.">C0262587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A benign tumor of the parathyroid gland that can cause hyperparathyroidism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75502">Feature record</a> | <a href="/medgen?term=%22Parathyroid%20gland%20adenoma%22%5BClinical%20Features%5D%20OR%2075502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_577332"><div><strong>Renal cortical adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>577332</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.">C0346253</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an adenoma in the cortex of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/577332">Feature record</a> | <a href="/medgen?term=%22Renal%20cortical%20adenoma%22%5BClinical%20Features%5D%20OR%20577332%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146361"><div><strong>Parathyroid carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146361</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."><span class="highlight" style="background-color:">C0687150</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146361">Feature record</a> | <a href="/medgen?term=%22Parathyroid%20carcinoma%22%5BClinical%20Features%5D%20OR%20146361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266300"><div><strong>Papillary renal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266300</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.">C1306837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of renal cell carcinoma in the renal papilla.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266300">Feature record</a> | <a href="/medgen?term=%22Papillary%20renal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%20266300%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_237009"><div><strong>Hurthle cell thyroid adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237009</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.">C1336750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of thyroid adenoma characterized by the presence of oxyphil cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/237009">Feature record</a> | <a href="/medgen?term=%22Hurthle%20cell%20thyroid%20adenoma%22%5BClinical%20Features%5D%20OR%20237009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9639"><div><strong>Polycystic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9639</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.">C0022680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple cysts in both kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9639">Feature record</a> | <a href="/medgen?term=%22Polycystic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%209639%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</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.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83800"><div><strong>Pancreatic adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83800</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.">C0281361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an adenocarcinoma of the pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83800">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%2083800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1639431"><div><strong>Recurrent pancreatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639431</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.">C4551632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A recurrent form of pancreatitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639431">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pancreatitis%22%5BClinical%20Features%5D%20OR%201639431%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5686"><div><strong>Hypercalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) 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_867438"><div><strong>Abnormality of the head</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867438</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.">C4021812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the head.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867438">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20head%22%5BClinical%20Features%5D%20OR%20867438%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6967"><div><strong>Hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6967</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.">C0020502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive production of parathyroid hormone (PTH) by the parathyroid glands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6967">Feature record</a> | <a href="/medgen?term=%22Hyperparathyroidism%22%5BClinical%20Features%5D%20OR%206967%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the head</a></span></li></ul></li><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 digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic adenocarcinoma</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_6967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1639431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pancreatitis</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_237009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hurthle cell thyroid adenoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephroblastoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Papillary renal cell carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parathyroid carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parathyroid gland adenoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_577332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cortical adenoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1704981[DISCUI]&test_type=Clinical" ref="ncbi_uid=310065">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=310065" target="_blank" href="/omim/145001">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1294%20OR%20NBK3789)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=310065">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=310065" ref="ncbi_uid=310065">V</a></span></span><span class="TLline">Hyperparathyroidism 2 with jaw tumors</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1791437" ref="tree=MeSH" title="MedGen record for CDC73-Related Neoplastic Syndrome">CDC73-Related Neoplastic Syndrome</a></span><ul><li><span class="matched_ds">Hyperparathyroidism 2 with jaw tumors</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=14453&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hyperparathyroidism 2 with jaw tumors</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39818301">Chapter 5: The roles of genetics in primary hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romanet P,
|
||
Coppin L,
|
||
Molin A,
|
||
Santucci N,
|
||
Le Bras M,
|
||
Odou MF</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2025 Feb;86(1):101694.
|
||
Epub 2025 Jan 14
|
||
doi: 10.1016/j.ando.2025.101694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39818301" target="_blank">39818301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31085770">Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetani F,
|
||
Marcocci C,
|
||
Torregrossa L,
|
||
Pardi E</span><br />
|
||
<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2019 Jul;26(7):R441-R464.
|
||
doi: 10.1530/ERC-19-0135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31085770" target="_blank">31085770</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hyperparathyroidism%202%20with%20jaw%20tumors)%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 (2)</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/38396977">Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gheorghe AM,
|
||
Sima OC,
|
||
Florescu AF,
|
||
Ciuche A,
|
||
Nistor C,
|
||
Sandru F,
|
||
Carsote M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Feb 15;25(4)
|
||
doi: 10.3390/ijms25042301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38396977" target="_blank">38396977</a><a href="/pmc/articles/PMC10889221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37339334">Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tora R,
|
||
Welch J,
|
||
Sun J,
|
||
Agarwal SK,
|
||
Bell DA,
|
||
Merino M,
|
||
Weinstein LS,
|
||
Simonds WF,
|
||
Jha S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Nov 17;108(12):3165-3177.
|
||
doi: 10.1210/clinem/dgad368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37339334" target="_blank">37339334</a><a href="/pmc/articles/PMC10655532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36780067">Familial parathyroid tumours-comparison of clinical profiles between syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Figueiredo AA,
|
||
Saramago A,
|
||
Cavaco BM,
|
||
Simões-Pereira J,
|
||
Leite V</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2023 Sep;46(9):1799-1806.
|
||
Epub 2023 Feb 13
|
||
doi: 10.1007/s40618-023-02032-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36780067" target="_blank">36780067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31085770">Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetani F,
|
||
Marcocci C,
|
||
Torregrossa L,
|
||
Pardi E</span><br />
|
||
<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2019 Jul;26(7):R441-R464.
|
||
doi: 10.1530/ERC-19-0135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31085770" target="_blank">31085770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28674121">Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasserman JD,
|
||
Tomlinson GE,
|
||
Druker H,
|
||
Kamihara J,
|
||
Kohlmann WK,
|
||
Kratz CP,
|
||
Nathanson KL,
|
||
Pajtler KW,
|
||
Parareda A,
|
||
Rednam SP,
|
||
States LJ,
|
||
Villani A,
|
||
Walsh MF,
|
||
Zelley K,
|
||
Schiffman JD</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2017 Jul 1;23(13):e123-e132.
|
||
doi: 10.1158/1078-0432.CCR-17-0548.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28674121" target="_blank">28674121</a><a href="/pmc/articles/PMC5547889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%202%20with%20jaw%20tumors%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38396977">Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gheorghe AM,
|
||
Sima OC,
|
||
Florescu AF,
|
||
Ciuche A,
|
||
Nistor C,
|
||
Sandru F,
|
||
Carsote M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Feb 15;25(4)
|
||
doi: 10.3390/ijms25042301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38396977" target="_blank">38396977</a><a href="/pmc/articles/PMC10889221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38038882">Genetics of hereditary forms of primary hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">English KA,
|
||
Lines KE,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2024 Mar;23(1):3-14.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1007/s42000-023-00508-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38038882" target="_blank">38038882</a><a href="/pmc/articles/PMC10847196" 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/30551989">Parathyroid carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salcuni AS,
|
||
Cetani F,
|
||
Guarnieri V,
|
||
Nicastro V,
|
||
Romagnoli E,
|
||
de Martino D,
|
||
Scillitani A,
|
||
Cole DEC</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2018 Dec;32(6):877-889.
|
||
Epub 2018 Dec 1
|
||
doi: 10.1016/j.beem.2018.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30551989" target="_blank">30551989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28674121">Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasserman JD,
|
||
Tomlinson GE,
|
||
Druker H,
|
||
Kamihara J,
|
||
Kohlmann WK,
|
||
Kratz CP,
|
||
Nathanson KL,
|
||
Pajtler KW,
|
||
Parareda A,
|
||
Rednam SP,
|
||
States LJ,
|
||
Villani A,
|
||
Walsh MF,
|
||
Zelley K,
|
||
Schiffman JD</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2017 Jul 1;23(13):e123-e132.
|
||
doi: 10.1158/1078-0432.CCR-17-0548.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28674121" target="_blank">28674121</a><a href="/pmc/articles/PMC5547889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%202%20with%20jaw%20tumors%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 (27)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37339334">Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tora R,
|
||
Welch J,
|
||
Sun J,
|
||
Agarwal SK,
|
||
Bell DA,
|
||
Merino M,
|
||
Weinstein LS,
|
||
Simonds WF,
|
||
Jha S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Nov 17;108(12):3165-3177.
|
||
doi: 10.1210/clinem/dgad368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37339334" target="_blank">37339334</a><a href="/pmc/articles/PMC10655532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27650236">Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathews JW,
|
||
Winchester R,
|
||
Alsaygh N,
|
||
Bartlett AM,
|
||
Luttrell L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2016 Sep;352(3):302-5.
|
||
Epub 2016 Jul 1
|
||
doi: 10.1016/j.amjms.2016.06.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27650236" target="_blank">27650236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22963808">Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolff EF,
|
||
Hill MJ,
|
||
Simonds WF,
|
||
Segars JH</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2012 Dec;98(6):1616-9.
|
||
Epub 2012 Sep 8
|
||
doi: 10.1016/j.fertnstert.2012.08.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22963808" target="_blank">22963808</a><a href="/pmc/articles/PMC3513668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%202%20with%20jaw%20tumors%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38396977">Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gheorghe AM,
|
||
Sima OC,
|
||
Florescu AF,
|
||
Ciuche A,
|
||
Nistor C,
|
||
Sandru F,
|
||
Carsote M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Feb 15;25(4)
|
||
doi: 10.3390/ijms25042301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38396977" target="_blank">38396977</a><a href="/pmc/articles/PMC10889221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38038882">Genetics of hereditary forms of primary hyperparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">English KA,
|
||
Lines KE,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2024 Mar;23(1):3-14.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1007/s42000-023-00508-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38038882" target="_blank">38038882</a><a href="/pmc/articles/PMC10847196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34831144">Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Luise M,
|
||
Iommarini L,
|
||
Marchio L,
|
||
Tedesco G,
|
||
Coadă CA,
|
||
Repaci A,
|
||
Turchetti D,
|
||
Tardio ML,
|
||
Salfi N,
|
||
Pagotto U,
|
||
Kurelac I,
|
||
Porcelli AM,
|
||
Gasparre G</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Oct 28;10(11)
|
||
doi: 10.3390/cells10112920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34831144" target="_blank">34831144</a><a href="/pmc/articles/PMC8616364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31085770">Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetani F,
|
||
Marcocci C,
|
||
Torregrossa L,
|
||
Pardi E</span><br />
|
||
<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2019 Jul;26(7):R441-R464.
|
||
doi: 10.1530/ERC-19-0135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31085770" target="_blank">31085770</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%202%20with%20jaw%20tumors%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38396977">Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gheorghe AM,
|
||
Sima OC,
|
||
Florescu AF,
|
||
Ciuche A,
|
||
Nistor C,
|
||
Sandru F,
|
||
Carsote M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Feb 15;25(4)
|
||
doi: 10.3390/ijms25042301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38396977" target="_blank">38396977</a><a href="/pmc/articles/PMC10889221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35742816">USP37 Deubiquitinates CDC73 in HPT-JT Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SY,
|
||
Lee JY,
|
||
Cho YJ,
|
||
Jo KH,
|
||
Kim ES,
|
||
Han JH,
|
||
Baek KH,
|
||
Moon SD</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Jun 7;23(12)
|
||
doi: 10.3390/ijms23126364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35742816" target="_blank">35742816</a><a href="/pmc/articles/PMC9224168" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31085770">Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetani F,
|
||
Marcocci C,
|
||
Torregrossa L,
|
||
Pardi E</span><br />
|
||
<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2019 Jul;26(7):R441-R464.
|
||
doi: 10.1530/ERC-19-0135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31085770" target="_blank">31085770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30551989">Parathyroid carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salcuni AS,
|
||
Cetani F,
|
||
Guarnieri V,
|
||
Nicastro V,
|
||
Romagnoli E,
|
||
de Martino D,
|
||
Scillitani A,
|
||
Cole DEC</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2018 Dec;32(6):877-889.
|
||
Epub 2018 Dec 1
|
||
doi: 10.1016/j.beem.2018.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30551989" target="_blank">30551989</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperparathyroidism%202%20with%20jaw%20tumors%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 (8)</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=C1704981%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704981%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704981%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704981%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704981%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C1704981%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1704981%5bDISCUI%5d" target="_blank">See all (32)</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=145001" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99880" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperparathyroidism%202%20with%20jaw%20tumors" 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=(hyperparathyroidism%202%20with%20jaw%20tumors)%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></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=145001" 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+2/8598" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hyperparathyroidism_2_with_jaw_tumors" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyperparathyroidism%202%20with%20jaw%20tumors" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10829/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=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20301471" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hyperparathyroidism%202%20with%20jaw%20tumors" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hyperparathyroidism%202%20with%20jaw%20tumors%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" 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>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=310065" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=310065" ref="log$=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=C1704981[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1704981[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=310065" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=310065" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=310065" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=310065" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=310065" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=310065" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=310065" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=310065" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=310065" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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||
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|
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<div id="HTDisplay" class="">
|
||
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|
||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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||
Clear
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</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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<ul id="activity">
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<li class="ra_rcd ralinkpopper two_line">
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