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<meta name="keywords" content="C4085251, disease or syndrome, paget disease of bone 2, paget disease of bone 2, early-onset, pdb2, tnfrsf11a, 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="Paget disease (PDB) is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=899166
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ConceptID=C4085251
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paget disease of bone 2, early-onset<span class="h1sub">(PDB2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899166</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:">C4085251</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Paget disease of bone 2; PDB2</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="TNFRSF11A - ID: 8792 - NCBI Gene" href="/gene/8792" class="medgenPMinfo">TNFRSF11A</a> (18q21.33)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8878">SQSTM1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011183" target="_blank">MONDO:0011183</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602080" target="_blank">602080</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">Paget disease (PDB) is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />A rare type of bone cancer called osteosarcoma has been associated with Paget disease of bone. This type of cancer probably occurs in less than 1 in 1,000 people with this disease.<br /><br />Other complications of Paget disease of bone depend on which bones are affected. If the disease occurs in bones of the skull, it can cause an enlarged head, hearing loss, headaches, and dizziness. If the disease affects bones in the spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal spinal curvature. In the leg bones, the disease can cause bowed legs and difficulty walking.<br /><br />Many people with classic Paget disease of bone do not experience any symptoms associated with their bone abnormalities. The disease is often diagnosed unexpectedly by x-rays or laboratory tests done for other reasons. People who develop symptoms are most likely to experience pain. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis results when the distortion of bones, particularly weight-bearing bones in the legs, causes extra wear and tear on the joints. Arthritis most frequently affects the knees and hips in people with this disease.<br /><br />The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs.<br /><br />Early-onset Paget disease of bone is a less common form of the disease that appears in a person's teens or twenties. Its features are similar to those of the classic form of the disease, although it is more likely to affect the skull, spine, and ribs (the axial skeleton) and the small bones of the hands. The early-onset form of the disorder is also associated with hearing loss early in life.<br /><br />Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured). <a target="_blank" href="https://medlineplus.gov/genetics/condition/paget-disease-of-bone">https://medlineplus.gov/genetics/condition/paget-disease-of-bone</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_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</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.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_215298"><div><strong>Hydroxyprolinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>215298</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.">C0948585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of 4-hydroxy-L-proline in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/215298">Feature record</a> | <a href="/medgen?term=%22Hydroxyprolinuria%22%5BClinical%20Features%5D%20OR%20215298%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87499"><div><strong>Short femur</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87499</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.">C0345375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal shortening of the femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87499">Feature record</a> | <a href="/medgen?term=%22Short%20femur%22%5BClinical%20Features%5D%20OR%2087499%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867333"><div><strong>Osteosclerosis of the ulna</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867333</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.">C4021697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteosclerosis (increased density related to increased bone mass) of the ulna.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867333">Feature record</a> | <a href="/medgen?term=%22Osteosclerosis%20of%20the%20ulna%22%5BClinical%20Features%5D%20OR%20867333%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99093"><div><strong>Bilateral conductive hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99093</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.">C0452136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral type of conductive hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99093">Feature record</a> | <a href="/medgen?term=%22Bilateral%20conductive%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%2099093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</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.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57717"><div><strong>Cranial nerve paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57717</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.">C0151311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57717">Feature record</a> | <a href="/medgen?term=%22Cranial%20nerve%20paralysis%22%5BClinical%20Features%5D%20OR%2057717%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113150"><div><strong>Paraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113150</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.">C0221166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness or partial paralysis in the lower limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113150">Feature record</a> | <a href="/medgen?term=%22Paraparesis%22%5BClinical%20Features%5D%20OR%20113150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82849"><div><strong>Brain stem compression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82849</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.">C0270680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82849">Feature record</a> | <a href="/medgen?term=%22Brain%20stem%20compression%22%5BClinical%20Features%5D%20OR%2082849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78731"><div><strong>Tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78731</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.">C0270790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78731">Feature record</a> | <a href="/medgen?term=%22Tetraparesis%22%5BClinical%20Features%5D%20OR%2078731%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66802"><div><strong>Recurrent long bone fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66802</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.">C0240231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20long%20bone%20fractures%22%5BClinical%20Features%5D%20OR%2066802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75497"><div><strong>Vertebral compression fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75497</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.">C0262431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75497">Feature record</a> | <a href="/medgen?term=%22Vertebral%20compression%20fracture%22%5BClinical%20Features%5D%20OR%2075497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_234655"><div><strong>Increased susceptibility to fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234655</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.">C1390474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234655">Feature record</a> | <a href="/medgen?term=%22Increased%20susceptibility%20to%20fractures%22%5BClinical%20Features%5D%20OR%20234655%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340470"><div><strong>Sandwich appearance of vertebral bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340470</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.">C1850134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340470">Feature record</a> | <a href="/medgen?term=%22Sandwich%20appearance%20of%20vertebral%20bodies%22%5BClinical%20Features%5D%20OR%20340470%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377095"><div><strong>Sclerosis of skull base</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377095</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.">C1851714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased bone density of the skull base without significant changes in bony contour.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377095">Feature record</a> | <a href="/medgen?term=%22Sclerosis%20of%20skull%20base%22%5BClinical%20Features%5D%20OR%20377095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340849"><div><strong>Bowing of the long bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340849</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.">C1855340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature of a long bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340849">Feature record</a> | <a href="/medgen?term=%22Bowing%20of%20the%20long%20bones%22%5BClinical%20Features%5D%20OR%20340849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347888"><div><strong>Femoral bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347888</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.">C1859461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bowing (abnormal curvature) of the femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347888">Feature record</a> | <a href="/medgen?term=%22Femoral%20bowing%22%5BClinical%20Features%5D%20OR%20347888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648424"><div><strong>Osteolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648424</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.">C4721411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648424">Feature record</a> | <a href="/medgen?term=%22Osteolysis%22%5BClinical%20Features%5D%20OR%201648424%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_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</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.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66678"><div><strong>Premature loss of teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66678</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.">C0232513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66678">Feature record</a> | <a href="/medgen?term=%22Premature%20loss%20of%20teeth%22%5BClinical%20Features%5D%20OR%2066678%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_66678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature loss of teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteosclerosis of the ulna</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short femur</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_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li><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 genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_215298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydroxyprolinuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bowing of the long bones</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral bowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased susceptibility to fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteolysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent long bone fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandwich appearance of vertebral bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerosis of skull base</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral compression fracture</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain stem compression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranial nerve paralysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paraparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraparesis</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral conductive hearing impairment</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4085251[DISCUI]&test_type=Clinical" ref="ncbi_uid=899166">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=899166" target="_blank" href="/omim/602080">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=899166" ref="ncbi_uid=899166">V</a></span></span><span class="TLline">Paget disease of bone 2, early-onset</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4085252[DISCUI]&test_type=Clinical" ref="ncbi_uid=895927">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=895927" target="_blank" href="/omim/167250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=895927" ref="ncbi_uid=895927">V</a></span></span><span class="TLline"><a href="/medgen/895927" ref="tree=GTR&ncbi_uid=895927&link_uid=895927" title="View MedGen record for 'Paget disease of bone 3'">Paget disease of bone 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339991" target="_blank" href="/omim/606263">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339991" ref="tree=GTR&ncbi_uid=339991&link_uid=339991" title="View MedGen record for 'Paget disease of bone 4'">Paget disease of bone 4</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Paget disease of bone 2, early-onset</span><ul><li><span class="TLline"><a href="/medgen/895927" ref="tree=MeSH" title="MedGen record for Paget disease of bone 3">Paget disease of bone 3</a></span></li><li><span class="TLline"><a href="/medgen/339991" ref="tree=MeSH" title="MedGen record for Paget disease of bone 4">Paget disease of bone 4</a></span></li></ul></li></ul></div></div></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/35405261">The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson MA,
|
||
Klickstein JA,
|
||
Khanna R,
|
||
Gou Y;
|
||
Cure VCP Disease Research Consortium,
|
||
Raman M</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2022 Jul;169:105722.
|
||
Epub 2022 Apr 8
|
||
doi: 10.1016/j.nbd.2022.105722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35405261" target="_blank">35405261</a><a href="/pmc/articles/PMC9169230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34244020">Characteristics of VCP mutation-associated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SC,
|
||
Smith CD,
|
||
Lombardo DM,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Aug;31(8):701-705.
|
||
Epub 2021 Jun 12
|
||
doi: 10.1016/j.nmd.2021.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34244020" target="_blank">34244020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28389692">Familial Early-Onset Paget's Disease of Bone Associated with a Novel hnRNPA2B1 Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qi X,
|
||
Pang Q,
|
||
Wang J,
|
||
Zhao Z,
|
||
Wang O,
|
||
Xu L,
|
||
Mao J,
|
||
Jiang Y,
|
||
Li M,
|
||
Xing X,
|
||
Yu W,
|
||
Asan,
|
||
Xia W</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2017 Aug;101(2):159-169.
|
||
Epub 2017 Apr 7
|
||
doi: 10.1007/s00223-017-0269-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28389692" target="_blank">28389692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24899140">Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Zee J,
|
||
Van Langenhove T,
|
||
Kovacs GG,
|
||
Dillen L,
|
||
Deschamps W,
|
||
Engelborghs S,
|
||
Matěj R,
|
||
Vandenbulcke M,
|
||
Sieben A,
|
||
Dermaut B,
|
||
Smets K,
|
||
Van Damme P,
|
||
Merlin C,
|
||
Laureys A,
|
||
Van Den Broeck M,
|
||
Mattheijssens M,
|
||
Peeters K,
|
||
Benussi L,
|
||
Binetti G,
|
||
Ghidoni R,
|
||
Borroni B,
|
||
Padovani A,
|
||
Archetti S,
|
||
Pastor P,
|
||
Razquin C,
|
||
Ortega-Cubero S,
|
||
Hernández I,
|
||
Boada M,
|
||
Ruiz A,
|
||
de Mendonça A,
|
||
Miltenberger-Miltényi G,
|
||
do Couto FS,
|
||
Sorbi S,
|
||
Nacmias B,
|
||
Bagnoli S,
|
||
Graff C,
|
||
Chiang HH,
|
||
Thonberg H,
|
||
Perneczky R,
|
||
Diehl-Schmid J,
|
||
Alexopoulos P,
|
||
Frisoni GB,
|
||
Bonvicini C,
|
||
Synofzik M,
|
||
Maetzler W,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Haack TB,
|
||
Strom TM,
|
||
Prokisch H,
|
||
Dols-Icardo O,
|
||
Clarimón J,
|
||
Lleó A,
|
||
Santana I,
|
||
Almeida MR,
|
||
Santiago B,
|
||
Heneka MT,
|
||
Jessen F,
|
||
Ramirez A,
|
||
Sanchez-Valle R,
|
||
Llado A,
|
||
Gelpi E,
|
||
Sarafov S,
|
||
Tournev I,
|
||
Jordanova A,
|
||
Parobkova E,
|
||
Fabrizi GM,
|
||
Testi S,
|
||
Salmon E,
|
||
Ströbel T,
|
||
Santens P,
|
||
Robberecht W,
|
||
De Jonghe P,
|
||
Martin JJ,
|
||
Cras P,
|
||
Vandenberghe R,
|
||
De Deyn PP,
|
||
Cruts M,
|
||
Sleegers K,
|
||
Van Broeckhoven C</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2014 Sep;128(3):397-410.
|
||
Epub 2014 Jun 5
|
||
doi: 10.1007/s00401-014-1298-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24899140" target="_blank">24899140</a><a href="/pmc/articles/PMC4131163" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16932700">Mechanisms of disease: genetics of Paget's disease of bone and related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daroszewska A,
|
||
Ralston SH</span><br />
|
||
<span class="medgenPMjournal">Nat Clin Pract Rheumatol</span>
|
||
2006 May;2(5):270-7.
|
||
doi: 10.1038/ncprheum0172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16932700" target="_blank">16932700</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paget%20disease%20of%20bone%202%2C%20early-onset%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36740137">Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craven M,
|
||
Vajravelu ME,
|
||
Shekdar KV,
|
||
Levine MA,
|
||
Mumm S,
|
||
Whyte MP,
|
||
Mancilla EE</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2023 May;170:116698.
|
||
Epub 2023 Feb 3
|
||
doi: 10.1016/j.bone.2023.116698.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36740137" target="_blank">36740137</a><a href="/pmc/articles/PMC10406616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34244020">Characteristics of VCP mutation-associated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SC,
|
||
Smith CD,
|
||
Lombardo DM,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Aug;31(8):701-705.
|
||
Epub 2021 Jun 12
|
||
doi: 10.1016/j.nmd.2021.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34244020" target="_blank">34244020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31991009">The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scotto di Carlo F,
|
||
Pazzaglia L,
|
||
Esposito T,
|
||
Gianfrancesco F</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2020 Aug;35(8):1387-1398.
|
||
Epub 2020 Feb 19
|
||
doi: 10.1002/jbmr.3964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31991009" target="_blank">31991009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22900631">Phenotypic variability in three families with valosin-containing protein mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spina S,
|
||
Van Laar AD,
|
||
Murrell JR,
|
||
Hamilton RL,
|
||
Kofler JK,
|
||
Epperson F,
|
||
Farlow MR,
|
||
Lopez OL,
|
||
Quinlan J,
|
||
DeKosky ST,
|
||
Ghetti B</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2013 Feb;20(2):251-8.
|
||
Epub 2012 Aug 20
|
||
doi: 10.1111/j.1468-1331.2012.03831.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22900631" target="_blank">22900631</a><a href="/pmc/articles/PMC3734548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22728077">Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata T,
|
||
Kimura Y,
|
||
Ohnuma Y,
|
||
Kawawaki J,
|
||
Kakiyama Y,
|
||
Tanaka K,
|
||
Kakizuka A</span><br />
|
||
<span class="medgenPMjournal">J Struct Biol</span>
|
||
2012 Aug;179(2):93-103.
|
||
Epub 2012 Jun 19
|
||
doi: 10.1016/j.jsb.2012.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22728077" target="_blank">22728077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paget%20disease%20of%20bone%202%2C%20early-onset%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35405261">The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson MA,
|
||
Klickstein JA,
|
||
Khanna R,
|
||
Gou Y;
|
||
Cure VCP Disease Research Consortium,
|
||
Raman M</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2022 Jul;169:105722.
|
||
Epub 2022 Apr 8
|
||
doi: 10.1016/j.nbd.2022.105722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35405261" target="_blank">35405261</a><a href="/pmc/articles/PMC9169230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34998409">VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng C,
|
||
Weiss L,
|
||
Leinonen H,
|
||
Shmara A,
|
||
Yin HZ,
|
||
Ton T,
|
||
Do A,
|
||
Lee J,
|
||
Ta L,
|
||
Mohanty E,
|
||
Vargas J,
|
||
Weiss J,
|
||
Palczewski K,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Jan 8;20(1):21.
|
||
doi: 10.1186/s12967-021-03186-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34998409" target="_blank">34998409</a><a href="/pmc/articles/PMC8742393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paget%20disease%20of%20bone%202%2C%20early-onset%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36740137">Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craven M,
|
||
Vajravelu ME,
|
||
Shekdar KV,
|
||
Levine MA,
|
||
Mumm S,
|
||
Whyte MP,
|
||
Mancilla EE</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2023 May;170:116698.
|
||
Epub 2023 Feb 3
|
||
doi: 10.1016/j.bone.2023.116698.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36740137" target="_blank">36740137</a><a href="/pmc/articles/PMC10406616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31991009">The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scotto di Carlo F,
|
||
Pazzaglia L,
|
||
Esposito T,
|
||
Gianfrancesco F</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2020 Aug;35(8):1387-1398.
|
||
Epub 2020 Feb 19
|
||
doi: 10.1002/jbmr.3964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31991009" target="_blank">31991009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29568001">Dysosteosclerosis is also caused by TNFRSF11A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo L,
|
||
Elcioglu NH,
|
||
Karalar OK,
|
||
Topkar MO,
|
||
Wang Z,
|
||
Sakamoto Y,
|
||
Matsumoto N,
|
||
Miyake N,
|
||
Nishimura G,
|
||
Ikegawa S</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2018 Jun;63(6):769-774.
|
||
Epub 2018 Mar 22
|
||
doi: 10.1038/s10038-018-0447-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29568001" target="_blank">29568001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23715207">Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shamirian S,
|
||
Nalbandian A,
|
||
Khare M,
|
||
Castellani R,
|
||
Kim R,
|
||
Kimonis VE</span><br />
|
||
<span class="medgenPMjournal">Alzheimer Dis Assoc Disord</span>
|
||
2015 Jan-Mar;29(1):90-3.
|
||
doi: 10.1097/WAD.0b013e318298e54f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23715207" target="_blank">23715207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paget%20disease%20of%20bone%202%2C%20early-onset%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34998409">VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng C,
|
||
Weiss L,
|
||
Leinonen H,
|
||
Shmara A,
|
||
Yin HZ,
|
||
Ton T,
|
||
Do A,
|
||
Lee J,
|
||
Ta L,
|
||
Mohanty E,
|
||
Vargas J,
|
||
Weiss J,
|
||
Palczewski K,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Jan 8;20(1):21.
|
||
doi: 10.1186/s12967-021-03186-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34998409" target="_blank">34998409</a><a href="/pmc/articles/PMC8742393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34244020">Characteristics of VCP mutation-associated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang SC,
|
||
Smith CD,
|
||
Lombardo DM,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Aug;31(8):701-705.
|
||
Epub 2021 Jun 12
|
||
doi: 10.1016/j.nmd.2021.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34244020" target="_blank">34244020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29568001">Dysosteosclerosis is also caused by TNFRSF11A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo L,
|
||
Elcioglu NH,
|
||
Karalar OK,
|
||
Topkar MO,
|
||
Wang Z,
|
||
Sakamoto Y,
|
||
Matsumoto N,
|
||
Miyake N,
|
||
Nishimura G,
|
||
Ikegawa S</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2018 Jun;63(6):769-774.
|
||
Epub 2018 Mar 22
|
||
doi: 10.1038/s10038-018-0447-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29568001" target="_blank">29568001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27106764">The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Ortiz CJ,
|
||
Flores JC,
|
||
Valenzuela JA,
|
||
Rodriguez GJ,
|
||
Zumkehr J,
|
||
Tran DN,
|
||
Kimonis VE,
|
||
Kitazawa M</span><br />
|
||
<span class="medgenPMjournal">Am J Pathol</span>
|
||
2016 Jun;186(6):1623-34.
|
||
Epub 2016 Apr 20
|
||
doi: 10.1016/j.ajpath.2016.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27106764" target="_blank">27106764</a><a href="/pmc/articles/PMC4901142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22728077">Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takata T,
|
||
Kimura Y,
|
||
Ohnuma Y,
|
||
Kawawaki J,
|
||
Kakiyama Y,
|
||
Tanaka K,
|
||
Kakizuka A</span><br />
|
||
<span class="medgenPMjournal">J Struct Biol</span>
|
||
2012 Aug;179(2):93-103.
|
||
Epub 2012 Jun 19
|
||
doi: 10.1016/j.jsb.2012.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22728077" target="_blank">22728077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paget%20disease%20of%20bone%202%2C%20early-onset%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 (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4085251%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4085251%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
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<li><a href="/gtr/tests?term=C4085251%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4085251%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
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