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<meta name="keywords" content="C0334041, cutaneous ossification, cutaneous osteosis, disease or syndrome, ectopic ossification familial type, ectopic ossification, familial, familial ectopic ossification, gnas, miliary osteoma, osseous heteroplasia, progressive, osseus heteroplasia, progressive, osteodermia, osteoma cutis, osteomatosis, osteosis cutis, poh, progressive osseous heteroplasia, progressive osseus heteroplasia (poh), 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="Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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UID=137714
|
||
ConceptID=C0334041
|
||
-->
|
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK459117/bin/gnas-dis-Image001.gif" src-large="/books/NBK459117/bin/gnas-dis-Image001.jpg" /></a><br /><a href="/books/NBK459117/figure/gnas-dis.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive osseous heteroplasia<span class="h1sub">(POH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137714</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:">C0334041</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>ECTOPIC OSSIFICATION, FAMILIAL; Osseus Heteroplasia, Progressive; POH; Progressive Osseus Heteroplasia (POH)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Osteoma cutis (71304002); Cutaneous ossification (71304002); Osteosis cutis (71304002); Osteodermia (71304002); Osteoma cutis (404074003); Progressive osseous heteroplasia (719271000); Familial ectopic ossification (719271000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="GNAS - ID: 2778 - NCBI Gene" href="/gene/2778" class="medgenPMinfo">GNAS</a> (20q13.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0025027">HP:0025027</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008153" target="_blank">MONDO:0008153</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/166350" target="_blank">166350</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=2762">ORPHA2762</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK459117" target="_blank">Disorders of GNAS Inactivation</a></div><div>Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Summary" target="NBK459117">Summary</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.GeneReview_Scope" target="NBK459117">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Diagnosis" target="NBK459117">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Clinical_Characteristics" target="NBK459117">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Genetically_Related_Allelic_Dis" target="NBK459117">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Differential_Diagnosis" target="NBK459117">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Management" target="NBK459117">Management</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Genetic_Counseling" target="NBK459117">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Resources" target="NBK459117">Resources</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Molecular_Genetics" target="NBK459117">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.Chapter_Notes" target="NBK459117">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK459117#gnas-dis.References" target="NBK459117">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Chad R Haldeman-Englert | Anna CE Hurst | Michael A Levine <a href="/books/NBK459117" target="NBK459117" title="NCBI Bookshelf: Disorders of GNAS Inactivation">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<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 />Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994).
|
||
The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP. <a target="_blank" href="http://www.omim.org/entry/166350">http://www.omim.org/entry/166350</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility.<br /><br />Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood. <a target="_blank" href="https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia">https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia</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_116086"><div><strong>Limb undergrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116086</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.">C0239399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limb shortening because of underdevelopment of one or more bones of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116086">Feature record</a> | <a href="/medgen?term=%22Limb%20undergrowth%22%5BClinical%20Features%5D%20OR%20116086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8101"><div><strong>Ankylosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8101</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.">C0003090</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of joint mobility resulting from changes involving the articular surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8101">Feature record</a> | <a href="/medgen?term=%22Ankylosis%22%5BClinical%20Features%5D%20OR%208101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868693"><div><strong>Ectopic ossification in muscle tissue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868693</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.">C4023096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of abnormal bony tissue within muscle tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868693">Feature record</a> | <a href="/medgen?term=%22Ectopic%20ossification%20in%20muscle%20tissue%22%5BClinical%20Features%5D%20OR%20868693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137714"><div><strong>Progressive osseous heteroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137714</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:">C0334041</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137714">Feature record</a> | <a href="/medgen?term=%22Progressive%20osseous%20heteroplasia%22%5BClinical%20Features%5D%20OR%20137714%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb undergrowth</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive osseous heteroplasia</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_8101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankylosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectopic ossification in muscle tissue</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=C0334041[DISCUI]&test_type=Clinical" ref="ncbi_uid=137714">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=137714" target="_blank" href="/omim/139320">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK459117/" ref="ncbi_uid=137714">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=137714" ref="ncbi_uid=137714">V</a></span></span><span class="TLline">Progressive osseous heteroplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843083" ref="tree=MeSH" title="MedGen record for Dermis disorder">Dermis disorder</a></span><ul><li><span class="matched_ds">Progressive osseous heteroplasia</span></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=2516&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Progressive osseous heteroplasia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_137714"><div><strong>Progressive osseous heteroplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137714</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:">C0334041</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137714">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive osseous heteroplasia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23796510">Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elli FM,
|
||
Barbieri AM,
|
||
Bordogna P,
|
||
Ferrari P,
|
||
Bufo R,
|
||
Ferrante E,
|
||
Giardino E,
|
||
Beck-Peccoz P,
|
||
Spada A,
|
||
Mantovani G</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2013 Oct;56(2):276-80.
|
||
Epub 2013 Jun 21
|
||
doi: 10.1016/j.bone.2013.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23796510" target="_blank">23796510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21816789">Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2011 Oct;96(10):3020-30.
|
||
Epub 2011 Aug 3
|
||
doi: 10.1210/jc.2011-1048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21816789" target="_blank">21816789</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20osseous%20heteroplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (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/33179219">Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elli FM,
|
||
Mantovani G</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2021 Jun;72(3):611-618.
|
||
Epub 2020 Nov 11
|
||
doi: 10.1007/s12020-020-02533-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33179219" target="_blank">33179219</a><a href="/pmc/articles/PMC8159830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29959430">Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
|
||
Bastepe M,
|
||
Monk D,
|
||
de Sanctis L,
|
||
Thiele S,
|
||
Usardi A,
|
||
Ahmed SF,
|
||
Bufo R,
|
||
Choplin T,
|
||
De Filippo G,
|
||
Devernois G,
|
||
Eggermann T,
|
||
Elli FM,
|
||
Freson K,
|
||
García Ramirez A,
|
||
Germain-Lee EL,
|
||
Groussin L,
|
||
Hamdy N,
|
||
Hanna P,
|
||
Hiort O,
|
||
Jüppner H,
|
||
Kamenický P,
|
||
Knight N,
|
||
Kottler ML,
|
||
Le Norcy E,
|
||
Lecumberri B,
|
||
Levine MA,
|
||
Mäkitie O,
|
||
Martin R,
|
||
Martos-Moreno GÁ,
|
||
Minagawa M,
|
||
Murray P,
|
||
Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
||
Zillikens MC,
|
||
Perez de Nanclares G,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Aug;14(8):476-500.
|
||
doi: 10.1038/s41574-018-0042-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29959430" target="_blank">29959430</a><a href="/pmc/articles/PMC6541219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15116703">Inherited ossifying diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Job-Deslandre C</span><br />
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<span class="medgenPMjournal">Joint Bone Spine</span>
|
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2004 Mar;71(2):98-101.
|
||
doi: 10.1016/s1297-319x(03)00130-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15116703" target="_blank">15116703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15089085">Heterotopic ossification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan FS,
|
||
Glaser DL,
|
||
Hebela N,
|
||
Shore EM</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2004 Mar-Apr;12(2):116-25.
|
||
doi: 10.5435/00124635-200403000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15089085" target="_blank">15089085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11092391">Progressive osseous heteroplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan FS,
|
||
Shore EM</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2000 Nov;15(11):2084-94.
|
||
doi: 10.1359/jbmr.2000.15.11.2084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11092391" target="_blank">11092391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20osseous%20heteroplasia%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/32756064">Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
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Bastepe M,
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Monk D,
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de Sanctis L,
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Thiele S,
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Ahmed SF,
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Bufo R,
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Choplin T,
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De Filippo G,
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Devernois G,
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Eggermann T,
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Elli FM,
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Garcia Ramirez A,
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Germain-Lee EL,
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Groussin L,
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Hamdy NAT,
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Hanna P,
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Hiort O,
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Jüppner H,
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Kamenický P,
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Knight N,
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Le Norcy E,
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Lecumberri B,
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Levine MA,
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Mäkitie O,
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Martin R,
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Martos-Moreno GÁ,
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Minagawa M,
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Murray P,
|
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Pereda A,
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Pignolo R,
|
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Rejnmark L,
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Rodado R,
|
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Rothenbuhler A,
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Saraff V,
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Shoemaker AH,
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Shore EM,
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Silve C,
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Turan S,
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Woods P,
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Zillikens MC,
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Perez de Nanclares G,
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Linglart A</span><br />
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<span class="medgenPMjournal">Horm Res Paediatr</span>
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2020;93(3):182-196.
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Epub 2020 Aug 5
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<span class="bold">PMID: </span><a href="/pubmed/32756064" target="_blank">32756064</a><a href="/pmc/articles/PMC8140671" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30641531">Inactivating PTH/PTHrP Signaling Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
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Elli FM</span><br />
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<span class="medgenPMjournal">Front Horm Res</span>
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Epub 2018 Nov 19
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<span class="bold">PMID: </span><a href="/pubmed/30641531" target="_blank">30641531</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29959430">Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
|
||
Bastepe M,
|
||
Monk D,
|
||
de Sanctis L,
|
||
Thiele S,
|
||
Usardi A,
|
||
Ahmed SF,
|
||
Bufo R,
|
||
Choplin T,
|
||
De Filippo G,
|
||
Devernois G,
|
||
Eggermann T,
|
||
Elli FM,
|
||
Freson K,
|
||
García Ramirez A,
|
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Germain-Lee EL,
|
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Groussin L,
|
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Hamdy N,
|
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Hanna P,
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Hiort O,
|
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Jüppner H,
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Kamenický P,
|
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Knight N,
|
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Kottler ML,
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Le Norcy E,
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Lecumberri B,
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Levine MA,
|
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Mäkitie O,
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Martin R,
|
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Martos-Moreno GÁ,
|
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Minagawa M,
|
||
Murray P,
|
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Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
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Zillikens MC,
|
||
Perez de Nanclares G,
|
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Linglart A</span><br />
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<span class="medgenPMjournal">Nat Rev Endocrinol</span>
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2018 Aug;14(8):476-500.
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doi: 10.1038/s41574-018-0042-0.
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<span class="bold">PMID: </span><a href="/pubmed/29959430" target="_blank">29959430</a><a href="/pmc/articles/PMC6541219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/29125274">Pseudohypoparathyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cianferotti L,
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Brandi ML</span><br />
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<span class="medgenPMjournal">Minerva Endocrinol</span>
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2018 Jun;43(2):156-167.
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Epub 2017 Nov 10
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doi: 10.23736/S0391-1977.17.02768-7.
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<span class="bold">PMID: </span><a href="/pubmed/29125274" target="_blank">29125274</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8126048">Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan FS,
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Craver R,
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MacEwen GD,
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Gannon FH,
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Finkel G,
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Hahn G,
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1994 Mar;76(3):425-36.
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<span class="bold">PMID: </span><a href="/pubmed/8126048" target="_blank">8126048</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20osseous%20heteroplasia%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 (39)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29959430">Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
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Bastepe M,
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Monk D,
|
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de Sanctis L,
|
||
Thiele S,
|
||
Usardi A,
|
||
Ahmed SF,
|
||
Bufo R,
|
||
Choplin T,
|
||
De Filippo G,
|
||
Devernois G,
|
||
Eggermann T,
|
||
Elli FM,
|
||
Freson K,
|
||
García Ramirez A,
|
||
Germain-Lee EL,
|
||
Groussin L,
|
||
Hamdy N,
|
||
Hanna P,
|
||
Hiort O,
|
||
Jüppner H,
|
||
Kamenický P,
|
||
Knight N,
|
||
Kottler ML,
|
||
Le Norcy E,
|
||
Lecumberri B,
|
||
Levine MA,
|
||
Mäkitie O,
|
||
Martin R,
|
||
Martos-Moreno GÁ,
|
||
Minagawa M,
|
||
Murray P,
|
||
Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
||
Zillikens MC,
|
||
Perez de Nanclares G,
|
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Linglart A</span><br />
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<span class="medgenPMjournal">Nat Rev Endocrinol</span>
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2018 Aug;14(8):476-500.
|
||
doi: 10.1038/s41574-018-0042-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29959430" target="_blank">29959430</a><a href="/pmc/articles/PMC6541219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29614433">Acquired and congenital forms of heterotopic ossification: new pathogenic insights and therapeutic opportunities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pacifici M</span><br />
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<span class="medgenPMjournal">Curr Opin Pharmacol</span>
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2018 Jun;40:51-58.
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Epub 2018 Mar 31
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doi: 10.1016/j.coph.2018.03.007.
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<span class="bold">PMID: </span><a href="/pubmed/29614433" target="_blank">29614433</a><a href="/pmc/articles/PMC6015534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20osseous%20heteroplasia%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/29959430">Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
|
||
Bastepe M,
|
||
Monk D,
|
||
de Sanctis L,
|
||
Thiele S,
|
||
Usardi A,
|
||
Ahmed SF,
|
||
Bufo R,
|
||
Choplin T,
|
||
De Filippo G,
|
||
Devernois G,
|
||
Eggermann T,
|
||
Elli FM,
|
||
Freson K,
|
||
García Ramirez A,
|
||
Germain-Lee EL,
|
||
Groussin L,
|
||
Hamdy N,
|
||
Hanna P,
|
||
Hiort O,
|
||
Jüppner H,
|
||
Kamenický P,
|
||
Knight N,
|
||
Kottler ML,
|
||
Le Norcy E,
|
||
Lecumberri B,
|
||
Levine MA,
|
||
Mäkitie O,
|
||
Martin R,
|
||
Martos-Moreno GÁ,
|
||
Minagawa M,
|
||
Murray P,
|
||
Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
||
Zillikens MC,
|
||
Perez de Nanclares G,
|
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Linglart A</span><br />
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<span class="medgenPMjournal">Nat Rev Endocrinol</span>
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2018 Aug;14(8):476-500.
|
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doi: 10.1038/s41574-018-0042-0.
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<span class="bold">PMID: </span><a href="/pubmed/29959430" target="_blank">29959430</a><a href="/pmc/articles/PMC6541219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15116703">Inherited ossifying diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Job-Deslandre C</span><br />
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<span class="medgenPMjournal">Joint Bone Spine</span>
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2004 Mar;71(2):98-101.
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doi: 10.1016/s1297-319x(03)00130-1.
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<span class="bold">PMID: </span><a href="/pubmed/15116703" target="_blank">15116703</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/15089085">Heterotopic ossification.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan FS,
|
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Glaser DL,
|
||
Hebela N,
|
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Shore EM</span><br />
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<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
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2004 Mar-Apr;12(2):116-25.
|
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doi: 10.5435/00124635-200403000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15089085" target="_blank">15089085</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/12370587">Progressive osseous heteroplasia. A case report and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aynaci O,
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Müjgan Aynaci F,
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Cobanoğlu U,
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Alpay K</span><br />
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<span class="medgenPMjournal">J Pediatr Orthop B</span>
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2002 Oct;11(4):339-42.
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<span class="bold">PMID: </span><a href="/pubmed/12370587" target="_blank">12370587</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11092391">Progressive osseous heteroplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan FS,
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Shore EM</span><br />
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<span class="medgenPMjournal">J Bone Miner Res</span>
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2000 Nov;15(11):2084-94.
|
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doi: 10.1359/jbmr.2000.15.11.2084.
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<span class="bold">PMID: </span><a href="/pubmed/11092391" target="_blank">11092391</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20osseous%20heteroplasia%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31546270">Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Han SR,
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Lee YA,
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Shin CH,
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Lim BC,
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Cho TJ,
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<span class="bold">PMID: </span><a href="/pubmed/31546270" target="_blank">31546270</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12119276">Gs(alpha) mutations and imprinting defects in human disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Weinstein LS,
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<span class="bold">PMID: </span><a href="/pubmed/12119276" target="_blank">12119276</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11588148">Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/11588148" target="_blank">11588148</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11092391">Progressive osseous heteroplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan FS,
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Shore EM</span><br />
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<span class="medgenPMjournal">J Bone Miner Res</span>
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2000 Nov;15(11):2084-94.
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doi: 10.1359/jbmr.2000.15.11.2084.
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<span class="bold">PMID: </span><a href="/pubmed/11092391" target="_blank">11092391</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8678571">Progressive osseous heteroplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miller ES,
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Esterly NB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20osseous%20heteroplasia%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 (12)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37003989">Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ma J,
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Mo W,
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Sun J,
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Li Y,
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Han T,
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Mao H</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37003989" target="_blank">37003989</a><a href="/pmc/articles/PMC10064707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20osseous%20heteroplasia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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</div>
|
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</div></div></div></div></div></div></div>
|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0334041%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C0334041%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0334041%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C0334041%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0334041%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
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</ul></div>
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<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>
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<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=166350" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2762" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Progressive%20osseous%20heteroplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20osseous%20heteroplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<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=139320" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2778[geneid]" target="_blank">View GNAS variations in ClinVar</a></li><li><a href="/nuccore/281182534" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=166350" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Progressive+osseous+heteroplasia/5985" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/osseous_heteroplasia_progressive" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Progressive%20osseous%20heteroplasia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/109/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/29072892" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0334041[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc4b3ab15b832ebc9cca7c">Progressive osseous heteroplasia</a>
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