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<meta name="keywords" content="C0432215, arthropathy, progressive pseudorheumatoid, of childhood, autosomal recessive spondyloepiphyseal dysplasia tarda, ccn6, disease or syndrome, ppac, ppd, pprd, progressive pseudorheumatoid arthropathy of childhood, progressive pseudorheumatoid chondrodysplasia, progressive pseudorheumatoid dysplasia, sedt-pa, spondyloepiphyseal dysplasia tarda - progressive arthropathy, spondyloepiphyseal dysplasia tarda progressive arthropathy, spondyloepiphyseal dysplasia tarda with progressive arthropathy, spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome, 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="Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress." /><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=96581
|
||
ConceptID=C0432215
|
||
-->
|
||
<!--imgCountBooks = 4--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (4)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK327267/bin/ppr-dysp-Image004.gif" src-large="/books/NBK327267/bin/ppr-dysp-Image004.jpg" /></a><br /><a href="/books/NBK327267/figure/ppr-dysp.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK327267/bin/ppr-dysp-Image001.gif" src-large="/books/NBK327267/bin/ppr-dysp-Image001.jpg" /></a><br /><a href="/books/NBK327267/figure/ppr-dysp.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK327267/bin/ppr-dysp-Image002.gif" src-large="/books/NBK327267/bin/ppr-dysp-Image002.jpg" /></a><br /><a href="/books/NBK327267/figure/ppr-dysp.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK327267/bin/ppr-dysp-Image003.gif" src-large="/books/NBK327267/bin/ppr-dysp-Image003.jpg" /></a><br /><a href="/books/NBK327267/figure/ppr-dysp.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive pseudorheumatoid dysplasia<span class="h1sub">(PPRD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96581</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:">C0432215</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>Autosomal recessive spondyloepiphyseal dysplasia tarda; PPRD; Progressive Pseudorheumatoid Arthropathy of Childhood; Spondyloepiphyseal dysplasia tarda progressive arthropathy; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Progressive pseudorheumatoid dysplasia (254065005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive 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="CCN6 - ID: 8838 - NCBI Gene" href="/gene/8838" class="medgenPMinfo">CCN6</a> (6q21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008827" target="_blank">MONDO:0008827</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/208230" target="_blank">208230</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=1159">ORPHA1159</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/NBK327267" target="_blank">Progressive Pseudorheumatoid Dysplasia</a></div><div>Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress. [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/NBK327267#ppr-dysp.Summary" target="NBK327267">Summary</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Diagnosis" target="NBK327267">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Clinical_Characteristics" target="NBK327267">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Genetically_Related_Allelic_Dis" target="NBK327267">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Differential_Diagnosis" target="NBK327267">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Management" target="NBK327267">Management</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Genetic_Counseling" target="NBK327267">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Resources" target="NBK327267">Resources</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Molecular_Genetics" target="NBK327267">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.Chapter_Notes" target="NBK327267">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK327267#ppr-dysp.References" target="NBK327267">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Gandham SriLakshmi Bhavani | Hitesh Shah | Anju Shukla<i>, et. al.</i> <a href="/books/NBK327267" target="NBK327267" title="NCBI Bookshelf: Progressive Pseudorheumatoid Dysplasia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From NCBI curation</strong><br />Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition.</div><div class="mgSection"><strong>From OMIM</strong><br />Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive skeletal dysplasia with radiographic changes similar to those of spondyloepiphyseal dysplasia tarda, and clinical, but not radiographic, resemblance to rheumatoid arthritis. It is a progressive chondropathy affecting primarily the articular cartilage with characteristic skeletal abnormalities notably in the spine (summary by El-Shanti et al., 1997). Signs and symptoms, typically consisting of stiffness and swelling of joints, motor weakness, and joint contractures, usually develop between 3 and 8 years of age (summary by Hurvitz et al., 1999). <a target="_blank" href="http://www.omim.org/entry/208230">http://www.omim.org/entry/208230</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.<br /><br />PPRD usually begins in childhood, between ages 3 and 8. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and in the knees. Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints. Hip pain is a common problem by adolescence. Affected individuals have flattened bones in the spine (platyspondyly) that are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short torso. At birth, people with PPRD are of normal length, but by adulthood, they are usually shorter than their peers. Affected adults also have abnormal deposits of calcium around the elbow, knee, and hip joints and limited movement in all joints, including those of the spine.<br /><br />PPRD is often mistaken for another joint disorder that affects young people called juvenile rheumatoid arthritis. However, the joint problems in juvenile rheumatoid arthritis are associated with inflammation, while those in PPRD are not. <a target="_blank" href="https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia">https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_154257"><div><strong>Genu varum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154257</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.">C0544755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/154257">Feature record</a> | <a href="/medgen?term=%22Genu%20varum%22%5BClinical%20Features%5D%20OR%20154257%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_347936"><div><strong>Enlarged metacarpophalangeal joints</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347936</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.">C1859700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347936">Feature record</a> | <a href="/medgen?term=%22Enlarged%20metacarpophalangeal%20joints%22%5BClinical%20Features%5D%20OR%20347936%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_347212"><div><strong>Enlarged interphalangeal joints</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347212</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.">C1859701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347212">Feature record</a> | <a href="/medgen?term=%22Enlarged%20interphalangeal%20joints%22%5BClinical%20Features%5D%20OR%20347212%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1762829"><div><strong>Abnormal foot morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762829</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.">C5399834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of the skeleton of foot.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1762829">Feature record</a> | <a href="/medgen?term=%22Abnormal%20foot%20morphology%22%5BClinical%20Features%5D%20OR%201762829%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1790477"><div><strong>Coxa vara</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790477</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.">C5551440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1790477">Feature record</a> | <a href="/medgen?term=%22Coxa%20vara%22%5BClinical%20Features%5D%20OR%201790477%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_66667"><div><strong>Waddling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66667</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.">C0231712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66667">Feature record</a> | <a href="/medgen?term=%22Waddling%20gait%22%5BClinical%20Features%5D%20OR%2066667%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_7190"><div><strong>Arthropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7190</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.">C0022408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any disorder of the joints.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7190">Feature record</a> | <a href="/medgen?term=%22Arthropathy%22%5BClinical%20Features%5D%20OR%207190%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_45244"><div><strong>Osteoarthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45244</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.">C0029408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/45244">Feature record</a> | <a href="/medgen?term=%22Osteoarthritis%22%5BClinical%20Features%5D%20OR%2045244%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduced strength of muscles.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_56258"><div><strong>Joint swelling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56258</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.">C0152031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of swelling in a joint.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56258">Feature record</a> | <a href="/medgen?term=%22Joint%20swelling%22%5BClinical%20Features%5D%20OR%2056258%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_56382"><div><strong>Joint contracture of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56382</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.">C0158113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56382">Feature record</a> | <a href="/medgen?term=%22Joint%20contracture%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%2056382%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_56403"><div><strong>Joint stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56403</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.">C0162298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56403">Feature record</a> | <a href="/medgen?term=%22Joint%20stiffness%22%5BClinical%20Features%5D%20OR%2056403%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_98041"><div><strong>Camptodactyly of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98041</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.">C0409348</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98041">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%20of%20finger%22%5BClinical%20Features%5D%20OR%2098041%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_154361"><div><strong>Kyphoscoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154361</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.">C0575158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/154361">Feature record</a> | <a href="/medgen?term=%22Kyphoscoliosis%22%5BClinical%20Features%5D%20OR%20154361%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_318846"><div><strong>Enlarged epiphyses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318846</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.">C1833328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Increased size of epiphyses.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/318846">Feature record</a> | <a href="/medgen?term=%22Enlarged%20epiphyses%22%5BClinical%20Features%5D%20OR%20318846%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</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.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_341364"><div><strong>Metaphyseal widening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341364</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.">C1849039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal widening of the metaphyseal regions of long bones.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341364">Feature record</a> | <a href="/medgen?term=%22Metaphyseal%20widening%22%5BClinical%20Features%5D%20OR%20341364%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_387844"><div><strong>Flattened epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387844</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.">C1857527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal flatness (decreased height) of epiphyses.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/387844">Feature record</a> | <a href="/medgen?term=%22Flattened%20epiphysis%22%5BClinical%20Features%5D%20OR%20387844%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_395323"><div><strong>Decreased cervical spine mobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395323</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.">C1859692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/395323">Feature record</a> | <a href="/medgen?term=%22Decreased%20cervical%20spine%20mobility%22%5BClinical%20Features%5D%20OR%20395323%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_347210"><div><strong>Enlargement of the proximal femoral epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347210</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.">C1859697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal enlargement of the proximal epiphysis of the femur.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/347210">Feature record</a> | <a href="/medgen?term=%22Enlargement%20of%20the%20proximal%20femoral%20epiphysis%22%5BClinical%20Features%5D%20OR%20347210%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642576"><div><strong>Sclerotic vertebral endplates</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642576</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.">C4551970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sclerosis (increased density) affecting vertebral end plates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642576">Feature record</a> | <a href="/medgen?term=%22Sclerotic%20vertebral%20endplates%22%5BClinical%20Features%5D%20OR%201642576%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_1762829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal foot morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxa vara</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged interphalangeal joints</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged metacarpophalangeal joints</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu varum</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_7190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly of finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395323" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased cervical spine mobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged epiphyses</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlargement of the proximal femoral epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flattened epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint contracture of the hand</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint swelling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphoscoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal widening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoarthritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerotic vertebral endplates</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_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waddling gait</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=C0432215[DISCUI]&test_type=Clinical" ref="ncbi_uid=96581">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0432215[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=96581">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=96581" target="_blank" href="/omim/208230">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK327267/" ref="ncbi_uid=96581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=96581" ref="ncbi_uid=96581">V</a></span></span><span class="TLline">Progressive pseudorheumatoid dysplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843067" ref="tree=MeSH" title="MedGen record for Genetic inflammatory or rheumatoid-like osteoarthropathy">Genetic inflammatory or rheumatoid-like osteoarthropathy</a></span><ul><li><span class="matched_ds">Progressive pseudorheumatoid dysplasia</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=1423&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Progressive pseudorheumatoid dysplasia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36622578">Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Gao SH,
|
||
Wei M,
|
||
Zhong LQ,
|
||
Liu W,
|
||
Jian S,
|
||
Xiao J,
|
||
Zhang CH,
|
||
Zhang JG,
|
||
Zeng XF,
|
||
Xia WB,
|
||
Qiu ZQ,
|
||
Song HM</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):674-686.
|
||
Epub 2023 Jan 9
|
||
doi: 10.1007/s12519-022-00674-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36622578" target="_blank">36622578</a><a href="/pmc/articles/PMC10258178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34674084">A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yin L,
|
||
Mao Y,
|
||
Zhou Y,
|
||
Shen Y,
|
||
Chen H,
|
||
Zhou W,
|
||
Jin Y,
|
||
Huang H,
|
||
Yu Y,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2022 Mar;41(3):877-888.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1007/s10067-021-05959-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34674084" target="_blank">34674084</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20pseudorheumatoid%20dysplasia%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/36622578">Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Gao SH,
|
||
Wei M,
|
||
Zhong LQ,
|
||
Liu W,
|
||
Jian S,
|
||
Xiao J,
|
||
Zhang CH,
|
||
Zhang JG,
|
||
Zeng XF,
|
||
Xia WB,
|
||
Qiu ZQ,
|
||
Song HM</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):674-686.
|
||
Epub 2023 Jan 9
|
||
doi: 10.1007/s12519-022-00674-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36622578" target="_blank">36622578</a><a href="/pmc/articles/PMC10258178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919662">Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uludağ Alkaya D,
|
||
Kasapçopur Ö,
|
||
Bursalı A,
|
||
Adrovic A,
|
||
Demir B,
|
||
Aykut A,
|
||
Tüysüz B</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2022 Aug 30;61(9):3693-3703.
|
||
doi: 10.1093/rheumatology/keab926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919662" target="_blank">34919662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34674084">A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yin L,
|
||
Mao Y,
|
||
Zhou Y,
|
||
Shen Y,
|
||
Chen H,
|
||
Zhou W,
|
||
Jin Y,
|
||
Huang H,
|
||
Yu Y,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2022 Mar;41(3):877-888.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1007/s10067-021-05959-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34674084" target="_blank">34674084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31876842">Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng B,
|
||
Xiao K,
|
||
Ren Y,
|
||
Xia Z,
|
||
Jin J,
|
||
Wu Z,
|
||
Qiu G,
|
||
Weng X</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2021 Jun 1;27(4):156-160.
|
||
doi: 10.1097/RHU.0000000000001248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31876842" target="_blank">31876842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9222963">Progressive pseudorheumatoid dysplasia: report of a family and review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">el-Shanti HE,
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Omari HZ,
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<span class="bold">PMID: </span><a href="/pubmed/9222963" target="_blank">9222963</a><a href="/pmc/articles/PMC1050995" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20pseudorheumatoid%20dysplasia%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35445714">A novel compound heterozygous mutation of WISP3 in progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen Z,
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<div class="nl"><a target="_blank" href="/pubmed/30327864">Progressive pseudorheumatoid dysplasia: a rare childhood disease.</a></div>
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Epub 2018 Oct 16
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<span class="bold">PMID: </span><a href="/pubmed/30327864" target="_blank">30327864</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26961566">Progressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chakraborty PP,
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<div class="nl"><a target="_blank" href="/pubmed/22791401">The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.</a></div>
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2012 Aug 15;160C(3):217-29.
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<span class="bold">PMID: </span><a href="/pubmed/22791401" target="_blank">22791401</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11097416">Progressive pseudorheumatoid dysplasia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20pseudorheumatoid%20dysplasia%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 (46)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/34042318">Progressive Pseudorheumatoid Dysplasia-Radiographic Evolution Over Twenty Years.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ciaffi J,
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<span class="bold">PMID: </span><a href="/pubmed/34042318" target="_blank">34042318</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33662637">Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaya Akca U,
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Simsek Kiper PO,
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Urel Demir G,
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Sag E,
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Atalay E,
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Utine GE,
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Alikasifoglu M,
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<span class="bold">PMID: </span><a href="/pubmed/33662637" target="_blank">33662637</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20pseudorheumatoid%20dysplasia%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/34919662">Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uludağ Alkaya D,
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Kasapçopur Ö,
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Bursalı A,
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Adrovic A,
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Demir B,
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Aykut A,
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Tüysüz B</span><br />
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<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
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2022 Aug 30;61(9):3693-3703.
|
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doi: 10.1093/rheumatology/keab926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919662" target="_blank">34919662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31876842">Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng B,
|
||
Xiao K,
|
||
Ren Y,
|
||
Xia Z,
|
||
Jin J,
|
||
Wu Z,
|
||
Qiu G,
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Weng X</span><br />
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<span class="medgenPMjournal">J Clin Rheumatol</span>
|
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2021 Jun 1;27(4):156-160.
|
||
doi: 10.1097/RHU.0000000000001248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31876842" target="_blank">31876842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30200995">Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
|
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Mo S,
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Luo G,
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Wang Y,
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Deng X,
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Zhu J,
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Zhao W</span><br />
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2018 Sep 10;16(1):55.
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doi: 10.1186/s12969-018-0272-7.
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<span class="bold">PMID: </span><a href="/pubmed/30200995" target="_blank">30200995</a><a href="/pmc/articles/PMC6131911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29092958">WISP3 mutation associated with pseudorheumatoid dysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sailani MR,
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Chappell J,
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Jingga I,
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Narasimha A,
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Zia A,
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Lynch JL,
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Mazrouei S,
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Bernstein JA,
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Aryani O,
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Snyder MP</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
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2018 Feb;4(1)
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Epub 2018 Feb 1
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doi: 10.1101/mcs.a001990.
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<span class="bold">PMID: </span><a href="/pubmed/29092958" target="_blank">29092958</a><a href="/pmc/articles/PMC5793776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16550920">Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Urtizberea JA,
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Thambyayah M,
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Nishino I,
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Megarbane A</span><br />
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<span class="medgenPMjournal">Acta Myol</span>
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<span class="bold">PMID: </span><a href="/pubmed/16550920" target="_blank">16550920</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20pseudorheumatoid%20dysplasia%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919662">Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uludağ Alkaya D,
|
||
Kasapçopur Ö,
|
||
Bursalı A,
|
||
Adrovic A,
|
||
Demir B,
|
||
Aykut A,
|
||
Tüysüz B</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2022 Aug 30;61(9):3693-3703.
|
||
doi: 10.1093/rheumatology/keab926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919662" target="_blank">34919662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34271408">Reconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Greer SY,
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Bullion EA</span><br />
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<span class="medgenPMjournal">Int J Paleopathol</span>
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2021 Sep;34:147-154.
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Epub 2021 Jul 13
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||
doi: 10.1016/j.ijpp.2021.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34271408" target="_blank">34271408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31876842">Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng B,
|
||
Xiao K,
|
||
Ren Y,
|
||
Xia Z,
|
||
Jin J,
|
||
Wu Z,
|
||
Qiu G,
|
||
Weng X</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2021 Jun 1;27(4):156-160.
|
||
doi: 10.1097/RHU.0000000000001248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31876842" target="_blank">31876842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31959394">Multi-scale mechanical investigation of articular cartilage suffered progressive pseudorheumatoid dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin LJ,
|
||
Ge YM,
|
||
Tian Y,
|
||
Liu N,
|
||
Luo XH,
|
||
Xue YT,
|
||
Xue YZB,
|
||
Wen CY,
|
||
Tang B</span><br />
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<span class="medgenPMjournal">Clin Biomech (Bristol)</span>
|
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2020 Oct;79:104947.
|
||
Epub 2020 Jan 2
|
||
doi: 10.1016/j.clinbiomech.2019.12.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31959394" target="_blank">31959394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29092958">WISP3 mutation associated with pseudorheumatoid dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sailani MR,
|
||
Chappell J,
|
||
Jingga I,
|
||
Narasimha A,
|
||
Zia A,
|
||
Lynch JL,
|
||
Mazrouei S,
|
||
Bernstein JA,
|
||
Aryani O,
|
||
Snyder MP</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2018 Feb;4(1)
|
||
Epub 2018 Feb 1
|
||
doi: 10.1101/mcs.a001990.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29092958" target="_blank">29092958</a><a href="/pmc/articles/PMC5793776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20pseudorheumatoid%20dysplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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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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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0432215%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C0432215%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0432215%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0432215%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C0432215%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0432215%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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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=208230" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1159" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Progressive%20pseudorheumatoid%20dysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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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%20pseudorheumatoid%20dysplasia%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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=603400" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8838[geneid]" target="_blank">View CCN6 variations in ClinVar</a></li><li><a href="/nuccore/226061259" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=208230" 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/Spondyloepiphyseal+dysplasia+tarda+progressive+arthropathy/6826" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/progressive_pseudorheumatoid_dysplasia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Progressive%20pseudorheumatoid%20dysplasia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9184/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=96581" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=96581" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5d51a68b6b5afcad024f">Progressive pseudorheumatoid dysplasia</a>
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<div class="ralinkpop offscreen_noflow">Progressive pseudorheumatoid dysplasia<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5d4e84f3725e596f3a9e">C0016037[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(50)</span></a>
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