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<!--
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||
UID=7190
|
||
ConceptID=C0022408
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Arthropathy</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Arthropathies; Joint Disease; Joint Diseases</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Arthropathy (399269003); Arthrosis (399269003); Joint disorder (399269003); Joint disease (399269003); Disorder of joint (399269003)</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:0003040">HP:0003040</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006816" target="_blank">MONDO:0006816</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any disorder of the joints. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022408[DISCUI]&test_type=Clinical" ref="ncbi_uid=7190">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Arthropathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/893053" ref="tree=MeSH" title="MedGen record for Abnormal joint morphology">Abnormal joint morphology</a></span><ul><li><span class="matched_ds">Arthropathy</span><ul><li><span class="TLline"><a href="/medgen/8101" ref="tree=MeSH" title="MedGen record for Ankylosis">Ankylosis</a></span><ul><li><span class="TLline"><a href="/medgen/870290" ref="tree=MeSH" title="MedGen record for Ankylosis of feet small joints">Ankylosis of feet small joints</a></span></li><li><span class="TLline"><a href="/medgen/923672" ref="tree=MeSH" title="MedGen record for Axial spondyloarthritis">Axial spondyloarthritis</a></span><ul><li><span class="TLline"><a href="/medgen/11561" ref="tree=MeSH" title="MedGen record for Ankylosing spondylitis">Ankylosing spondylitis</a></span></li><li><span class="TLline"><a href="/medgen/891368" ref="tree=MeSH" title="MedGen record for Non-radiographic axial spondyloarthritis">Non-radiographic axial spondyloarthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/592439" ref="tree=MeSH" title="MedGen record for Elbow ankylosis">Elbow ankylosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/13917" ref="tree=MeSH" title="MedGen record for Arthralgia">Arthralgia</a></span><ul><li><span class="TLline"><a href="/medgen/870799" ref="tree=MeSH" title="MedGen record for Arthralgia/arthritis">Arthralgia/arthritis</a></span></li><li><span class="TLline"><a href="/medgen/11415" ref="tree=MeSH" title="MedGen record for Shoulder pain">Shoulder pain</a></span><ul><li><span class="TLline"><a href="/medgen/1056817" ref="tree=MeSH" title="MedGen record for Anterior shoulder pain">Anterior shoulder pain</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/2043" ref="tree=MeSH" title="MedGen record for Arthritis">Arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/116008" ref="tree=MeSH" title="MedGen record for Aggravated Arthritis">Aggravated Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/57632" ref="tree=MeSH" title="MedGen record for Allergic arthritis">Allergic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1375509" ref="tree=MeSH" title="MedGen record for Atrophic Arthritis">Atrophic Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/120489" ref="tree=MeSH" title="MedGen record for Cervical osteoarthritis">Cervical osteoarthritis</a></span></li><li><span class="TLline"><a href="/medgen/154303" ref="tree=MeSH" title="MedGen record for Chondrocalcinosis">Chondrocalcinosis</a></span><ul><li><span class="TLline"><a href="/medgen/870801" ref="tree=MeSH" title="MedGen record for Polyarticular chondrocalcinosis">Polyarticular chondrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/592677" ref="tree=MeSH" title="MedGen record for Rotator cuff tear arthropathy">Rotator cuff tear arthropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57851" ref="tree=MeSH" title="MedGen record for Climacteric arthritis">Climacteric arthritis</a></span></li><li><span class="TLline"><a href="/medgen/384947" ref="tree=MeSH" title="MedGen record for Destructive Arthritis">Destructive Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/858875" ref="tree=MeSH" title="MedGen record for Early Inflammatory Arthritis">Early Inflammatory Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/508755" ref="tree=MeSH" title="MedGen record for Enteropathic arthritis">Enteropathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/42280" ref="tree=MeSH" title="MedGen record for Gout">Gout</a></span><ul><li><span class="TLline"><a href="/medgen/406" ref="tree=MeSH" title="MedGen record for Gouty arthropathy">Gouty arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/450998" ref="tree=MeSH" title="MedGen record for Podagra">Podagra</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120487" ref="tree=MeSH" title="MedGen record for Hemophilic arthropathy">Hemophilic arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/13918" ref="tree=MeSH" title="MedGen record for Infective arthritis">Infective arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/308434" ref="tree=MeSH" title="MedGen record for Bacterial arthritis">Bacterial arthritis</a></span></li><li><span class="TLline"><a href="/medgen/39047" ref="tree=MeSH" title="MedGen record for Reactive arthritis">Reactive arthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/154358" ref="tree=MeSH" title="MedGen record for Inflammation of sacroiliac joint">Inflammation of sacroiliac joint</a></span></li><li><span class="TLline"><a href="/medgen/215416" ref="tree=MeSH" title="MedGen record for Inflammatory spondylopathy">Inflammatory spondylopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1784865" ref="tree=MeSH" title="MedGen record for Enteropathic Spondylitis">Enteropathic Spondylitis</a></span></li><li><span class="TLline"><a href="/medgen/592564" ref="tree=MeSH" title="MedGen record for Juvenile spondyloarthropathy">Juvenile spondyloarthropathy</a></span></li><li><span class="TLline"><a href="/medgen/389941" ref="tree=MeSH" title="MedGen record for Osteoarthritis, spine">Osteoarthritis, spine</a></span></li><li><span class="TLline"><a href="/medgen/181888" ref="tree=MeSH" title="MedGen record for Spondyloarthropathy">Spondyloarthropathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760659" ref="tree=MeSH" title="MedGen record for Juvenile idiopathic arthritis">Juvenile idiopathic arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/854059" ref="tree=MeSH" title="MedGen record for Enthesitis-related juvenile idiopathic arthritis">Enthesitis-related juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/443993" ref="tree=MeSH" title="MedGen record for Oligoarticular juvenile idiopathic arthritis">Oligoarticular juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/811463" ref="tree=MeSH" title="MedGen record for Psoriasis-related juvenile idiopathic arthritis">Psoriasis-related juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/855520" ref="tree=MeSH" title="MedGen record for Psoriatic Juvenile Idiopathic Arthritis">Psoriatic Juvenile Idiopathic Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/855549" ref="tree=MeSH" title="MedGen record for Rheumatoid factor-negative juvenile idiopathic arthritis">Rheumatoid factor-negative juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/855737" ref="tree=MeSH" title="MedGen record for Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis">Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/730498" ref="tree=MeSH" title="MedGen record for Systemic onset juvenile chronic arthritis">Systemic onset juvenile chronic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/346934" ref="tree=MeSH" title="MedGen record for Systemic-onset juvenile idiopathic arthritis">Systemic-onset juvenile idiopathic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/856839" ref="tree=MeSH" title="MedGen record for Undifferentiated Juvenile Idiopathic Arthritis">Undifferentiated Juvenile Idiopathic Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1842681" ref="tree=MeSH" title="MedGen record for Unspecified juvenile idiopathic arthritis">Unspecified juvenile idiopathic arthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66074" ref="tree=MeSH" title="MedGen record for Lyme arthritis">Lyme arthritis</a></span></li><li><span class="TLline"><a href="/medgen/536968" ref="tree=MeSH" title="MedGen record for Migratory arthritis">Migratory arthritis</a></span></li><li><span class="TLline"><a href="/medgen/857717" ref="tree=MeSH" title="MedGen record for Nonerosive Arthritis">Nonerosive Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/856143" ref="tree=MeSH" title="MedGen record for Oligoarthritis">Oligoarthritis</a></span></li><li><span class="TLline"><a href="/medgen/45244" ref="tree=MeSH" title="MedGen record for Osteoarthritis">Osteoarthritis</a></span><ul><li><span class="TLline"><a href="/medgen/14530" ref="tree=MeSH" title="MedGen record for Osteoarthritis, hip">Osteoarthritis, hip</a></span></li><li><span class="TLline"><a href="/medgen/98371" ref="tree=MeSH" title="MedGen record for Osteoarthritis, knee">Osteoarthritis, knee</a></span></li><li><span class="TLline"><a href="/medgen/371977" ref="tree=MeSH" title="MedGen record for Premature osteoarthritis">Premature osteoarthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45397" ref="tree=MeSH" title="MedGen record for Periarthritis">Periarthritis</a></span></li><li><span class="TLline"><a href="/medgen/56408" ref="tree=MeSH" title="MedGen record for Polyarticular arthritis">Polyarticular arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/140816" ref="tree=MeSH" title="MedGen record for Juvenile chronic polyarthritis">Juvenile chronic polyarthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/712525" ref="tree=MeSH" title="MedGen record for Post-streptococcal reactive arthritis">Post-streptococcal reactive arthritis</a></span></li><li><span class="TLline"><a href="/medgen/19539" ref="tree=MeSH" title="MedGen record for Pseudogout">Pseudogout</a></span></li><li><span class="TLline"><a href="/medgen/2077" ref="tree=MeSH" title="MedGen record for Psoriatic arthritis">Psoriatic arthritis</a></span></li><li><span class="TLline"><a href="/medgen/48448" ref="tree=MeSH" title="MedGen record for Rheumatic Fever">Rheumatic Fever</a></span><ul><li><span class="TLline"><a href="/medgen/20565" ref="tree=MeSH" title="MedGen record for Rheumatic heart disease">Rheumatic heart disease</a></span></li><li><span class="TLline"><a href="/medgen/19780" ref="tree=MeSH" title="MedGen record for Rheumatic nodule">Rheumatic nodule</a></span></li><li><span class="TLline"><a href="/medgen/53087" ref="tree=MeSH" title="MedGen record for Wissler syndrome">Wissler syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2078" ref="tree=MeSH" title="MedGen record for Rheumatoid arthritis">Rheumatoid arthritis</a></span><ul><li><span class="TLline"><a href="/medgen/39007" ref="tree=MeSH" title="MedGen record for Adult-onset Still disease">Adult-onset Still disease</a></span></li><li><span class="TLline"><a href="/medgen/743" ref="tree=MeSH" title="MedGen record for Caplan syndrome">Caplan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/858872" ref="tree=MeSH" title="MedGen record for Early Rheumatoid Arthritis">Early Rheumatoid Arthritis</a></span></li><li><span class="TLline"><a href="/medgen/4674" ref="tree=MeSH" title="MedGen record for Felty syndrome">Felty syndrome</a></span></li><li><span class="TLline"><a href="/medgen/88662" ref="tree=MeSH" title="MedGen record for Juvenile onset Still disease">Juvenile onset Still disease</a></span></li><li><span class="TLline"><a href="/medgen/811462" ref="tree=MeSH" title="MedGen record for Juvenile rheumatoid arthritis">Juvenile rheumatoid arthritis</a></span></li><li><span class="TLline"><a href="/medgen/19781" ref="tree=MeSH" title="MedGen record for Rheumatoid nodule">Rheumatoid nodule</a></span></li><li><span class="TLline"><a href="/medgen/69122" ref="tree=MeSH" title="MedGen record for Rheumatoid vasculitis">Rheumatoid vasculitis</a></span></li><li><span class="TLline"><a href="/medgen/592547" ref="tree=MeSH" title="MedGen record for Seropositive rheumatoid arthritis">Seropositive rheumatoid arthritis</a></span></li><li><span class="TLline"><a href="/medgen/282890" ref="tree=MeSH" title="MedGen record for Sjogren syndrome">Sjogren syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1374751" ref="tree=MeSH" title="MedGen record for Sterile arthritis">Sterile arthritis</a></span></li><li><span class="TLline"><a href="/medgen/856092" ref="tree=MeSH" title="MedGen record for Suppurative arthritis">Suppurative arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1788218" ref="tree=MeSH" title="MedGen record for Symmetric polyarthritis">Symmetric polyarthritis</a></span></li><li><span class="TLline"><a href="/medgen/672845" ref="tree=MeSH" title="MedGen record for Temporomandibular arthritis">Temporomandibular arthritis</a></span></li><li><span class="TLline"><a href="/medgen/1056641" ref="tree=MeSH" title="MedGen record for Wrist arthritis">Wrist arthritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span><ul><li><span class="TLline"><a href="/medgen/67391" ref="tree=MeSH" title="MedGen record for Congenital contractural arachnodactyly">Congenital contractural arachnodactyly</a></span></li><li><span class="TLline"><a href="/medgen/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/102354" ref="tree=MeSH" title="MedGen record for Behcet syndrome arthropathy">Behcet syndrome arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/691" ref="tree=MeSH" title="MedGen record for Bursitis">Bursitis</a></span></li><li><span class="TLline"><a href="/medgen/508879" ref="tree=MeSH" title="MedGen record for Crystal arthropathy">Crystal arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/445274" ref="tree=MeSH" title="MedGen record for Femoroacetabular impingement">Femoroacetabular impingement</a></span></li><li><span class="TLline"><a href="/medgen/75534" ref="tree=MeSH" title="MedGen record for Hallux rigidus">Hallux rigidus</a></span></li><li><span class="TLline"><a href="/medgen/222181" ref="tree=MeSH" title="MedGen record for Hydrarthrosis">Hydrarthrosis</a></span></li><li><span class="TLline"><a href="/medgen/5935" ref="tree=MeSH" title="MedGen record for Instability of joint">Instability of joint</a></span></li><li><span class="TLline"><a href="/medgen/41614" ref="tree=MeSH" title="MedGen record for Joint dislocation">Joint dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/568603" ref="tree=MeSH" title="MedGen record for Diastasis of bone">Diastasis of bone</a></span><ul><li><span class="TLline"><a href="/medgen/116063" ref="tree=MeSH" title="MedGen record for Symphysiolysis">Symphysiolysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/510527" ref="tree=MeSH" title="MedGen record for Diastasis of muscle">Diastasis of muscle</a></span></li><li><span class="TLline"><a href="/medgen/42455" ref="tree=MeSH" title="MedGen record for Hip dislocation">Hip dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/9258" ref="tree=MeSH" title="MedGen record for Congenital hip dislocation">Congenital hip dislocation</a></span></li><li><span class="TLline"><a href="/medgen/481650" ref="tree=MeSH" title="MedGen record for Developmental Hip Dysplasia">Developmental Hip Dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83065" ref="tree=MeSH" title="MedGen record for Joint subluxation">Joint subluxation</a></span><ul><li><span class="TLline"><a href="/medgen/375973" ref="tree=MeSH" title="MedGen record for Cervical subluxation">Cervical subluxation</a></span></li><li><span class="TLline"><a href="/medgen/56213" ref="tree=MeSH" title="MedGen record for Radial head subluxation">Radial head subluxation</a></span></li><li><span class="TLline"><a href="/medgen/341673" ref="tree=MeSH" title="MedGen record for Recurrent mandibular subluxations">Recurrent mandibular subluxations</a></span></li><li><span class="TLline"><a href="/medgen/451059" ref="tree=MeSH" title="MedGen record for Shoulder subluxation">Shoulder subluxation</a></span></li><li><span class="TLline"><a href="/medgen/870901" ref="tree=MeSH" title="MedGen record for Subluxation of metacarpal phalangeal joints">Subluxation of metacarpal phalangeal joints</a></span></li><li><span class="TLline"><a href="/medgen/870942" ref="tree=MeSH" title="MedGen record for Subluxation of the proximal interphalangeal joint of the little finger">Subluxation of the proximal interphalangeal joint of the little finger</a></span></li><li><span class="TLline"><a href="/medgen/870918" ref="tree=MeSH" title="MedGen record for Subluxation of the small joints of the hand">Subluxation of the small joints of the hand</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/102364" ref="tree=MeSH" title="MedGen record for Knee dislocation">Knee dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/75582" ref="tree=MeSH" title="MedGen record for Congenital knee dislocation">Congenital knee dislocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870803" ref="tree=MeSH" title="MedGen record for Large joint dislocations">Large joint dislocations</a></span></li><li><span class="TLline"><a href="/medgen/868125" ref="tree=MeSH" title="MedGen record for Lower extremity joint dislocation">Lower extremity joint dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/1053877" ref="tree=MeSH" title="MedGen record for Ankle dislocation">Ankle dislocation</a></span></li><li><span class="TLline"><a href="/medgen/105118" ref="tree=MeSH" title="MedGen record for Dislocation of toes">Dislocation of toes</a></span></li><li><span class="TLline"><a href="/medgen/253896" ref="tree=MeSH" title="MedGen record for Patellar dislocation">Patellar dislocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90698" ref="tree=MeSH" title="MedGen record for Multiple joint dislocation">Multiple joint dislocation</a></span></li><li><span class="TLline"><a href="/medgen/102355" ref="tree=MeSH" title="MedGen record for Pathological dislocation of joint">Pathological dislocation of joint</a></span></li><li><span class="TLline"><a href="/medgen/102356" ref="tree=MeSH" title="MedGen record for Recurrent joint dislocation">Recurrent joint dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/592395" ref="tree=MeSH" title="MedGen record for Recurrent patellar dislocation">Recurrent patellar dislocation</a></span></li><li><span class="TLline"><a href="/medgen/592396" ref="tree=MeSH" title="MedGen record for Recurrent shoulder dislocation">Recurrent shoulder dislocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48655" ref="tree=MeSH" title="MedGen record for Shoulder dislocation">Shoulder dislocation</a></span></li><li><span class="TLline"><a href="/medgen/868126" ref="tree=MeSH" title="MedGen record for Upper extremity joint dislocation">Upper extremity joint dislocation</a></span><ul><li><span class="TLline"><a href="/medgen/480063" ref="tree=MeSH" title="MedGen record for Dislocated wrist">Dislocated wrist</a></span></li><li><span class="TLline"><a href="/medgen/404765" ref="tree=MeSH" title="MedGen record for Elbow dislocation">Elbow dislocation</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/5479" ref="tree=MeSH" title="MedGen record for Joint hemorrhage">Joint hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/7191" ref="tree=MeSH" title="MedGen record for Loose body in joint">Loose body in joint</a></span></li><li><span class="TLline"><a href="/medgen/7575" ref="tree=MeSH" title="MedGen record for Metatarsalgia">Metatarsalgia</a></span><ul><li><span class="TLline"><a href="/medgen/90231" ref="tree=MeSH" title="MedGen record for Morton neuroma">Morton neuroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3227" ref="tree=MeSH" title="MedGen record for Muscle contracture">Muscle contracture</a></span><ul><li><span class="TLline"><a href="/medgen/41672" ref="tree=MeSH" title="MedGen record for Contracture of palmar fascia">Contracture of palmar fascia</a></span><ul><li><span class="TLline"><a href="/medgen/338840" ref="tree=MeSH" title="MedGen record for DUPUYTREN CONTRACTURE 1">DUPUYTREN CONTRACTURE 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9257" ref="tree=MeSH" title="MedGen record for Contractures, Hip">Contractures, Hip</a></span></li><li><span class="TLline"><a href="/medgen/56385" ref="tree=MeSH" title="MedGen record for Plantar fibromatosis">Plantar fibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/22684" ref="tree=MeSH" title="MedGen record for Volkmann contracture">Volkmann contracture</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10257" ref="tree=MeSH" title="MedGen record for Nail-patella syndrome">Nail-patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/13919" ref="tree=MeSH" title="MedGen record for Neuropathic arthropathy">Neuropathic arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/18210" ref="tree=MeSH" title="MedGen record for Pachydermoperiostosis syndrome">Pachydermoperiostosis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641972" ref="tree=MeSH" title="MedGen record for Hypertrophic osteoarthropathy, primary, autosomal recessive, 1">Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/164080" ref="tree=MeSH" title="MedGen record for Patellofemoral pain syndrome">Patellofemoral pain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870782" ref="tree=MeSH" title="MedGen record for Polyarticular arthropathy">Polyarticular arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/18211" ref="tree=MeSH" title="MedGen record for Secondary hypertrophic osteoarthropathy">Secondary hypertrophic osteoarthropathy</a></span></li><li><span class="TLline"><a href="/medgen/138249" ref="tree=MeSH" title="MedGen record for Shoulder impingement syndrome">Shoulder impingement syndrome</a></span></li><li><span class="TLline"><a href="/medgen/40275" ref="tree=MeSH" title="MedGen record for Synovial chondromatosis">Synovial chondromatosis</a></span></li><li><span class="TLline"><a href="/medgen/21051" ref="tree=MeSH" title="MedGen record for Synovitis">Synovitis</a></span><ul><li><span class="TLline"><a href="/medgen/473482" ref="tree=MeSH" title="MedGen record for Acute Synovitis">Acute Synovitis</a></span></li><li><span class="TLline"><a href="/medgen/232927" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor">Tenosynovial giant cell tumor</a></span><ul><li><span class="TLline"><a href="/medgen/226849" ref="tree=MeSH" title="MedGen record for Malignant tenosynovial giant cell tumor">Malignant tenosynovial giant cell tumor</a></span></li><li><span class="TLline"><a href="/medgen/11691" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor, diffuse type">Tenosynovial giant cell tumor, diffuse type</a></span></li><li><span class="TLline"><a href="/medgen/154413" ref="tree=MeSH" title="MedGen record for Tenosynovial giant cell tumor, localized type">Tenosynovial giant cell tumor, localized type</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/21092" ref="tree=MeSH" title="MedGen record for Temporomandibular joint disorder">Temporomandibular joint disorder</a></span><ul><li><span class="TLline"><a href="/medgen/21093" ref="tree=MeSH" title="MedGen record for Temporomandibular joint dysfunction syndrome">Temporomandibular joint dysfunction syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101813" ref="tree=MeSH" title="MedGen record for Transient arthropathy">Transient arthropathy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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>
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<div class="divPopper rprt" id="rdis_1413"><div><strong>Alkaptonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1413</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:">C0002066</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1413">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_6916"><div><strong>Congenital sensory neuropathy with selective loss of small myelinated fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6916</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.">C0020075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6916">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120636"><div><strong>Adult hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120636</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.">C0268413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120636">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96581"><div><strong>Progressive pseudorheumatoid dysplasia</strong><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.">C0432215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96581">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98152"><div><strong>Winchester syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98152</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.">C0432289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Winchester syndrome (WNCHRS) presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). Reviews Winter (1989) provided a review of Winchester syndrome. De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98152">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163633"><div><strong>Chondrocalcinosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163633</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.">C0856830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of Chondrocalcinosis Another form of chondrocalcinosis (CCAL1; 600668) has been mapped to chromosome 8q.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163633">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373381"><div><strong>Spondyloepiphyseal dysplasia with congenital joint dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373381</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.">C1837657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chondrodysplasia with congenital joint dislocations, CHST3-related (CDCJD-CHST3) is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335678"><div><strong>Familial digital arthropathy-brachydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335678</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.">C1847406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347615"><div><strong>Stickler syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347615</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.">C1858084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349226"><div><strong>Camptodactyly-arthropathy-coxa vara-pericarditis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349226</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.">C1859690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349226">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_810955"><div><strong>Stickler syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>810955</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.">C2020284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/810955">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413116"><div><strong>Aicardi-Goutieres syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413116</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.">C2749659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413116">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</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.">C3469186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641972"><div><strong>Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641972</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.">C4551679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by Uppal et al., 2008; Radhakrishnan et al., 2020). Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic Heterogeneity Autosomal recessive primary hypertrophic osteoarthropathy-2-enteropathy syndrome (PHOAR2E; 614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22. Families with an autosomal dominant form of primary hypertrophic osteoarthropathy, in which patients may also experience gastrointestinal symptoms, have been reported (PHOAD; 167100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641972">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1673363"><div><strong>Hyper-IgE recurrent infection syndrome 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673363</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.">C5193141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyper-IgE syndrome-4B with recurrent infections (HIES4B) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. Patients are mainly susceptible to bacterial infections that affect the respiratory tract, skin, and eye. Immunologic workup shows increased serum IgE, intermittent eosinophilia, and impaired IL6 (147620) and IL27 (608273) downstream signaling that affects the development and function of certain B- and T-cell populations, as well as the acute-phase response; IL11 (147681) signaling in fibroblasts is also affected (summary by Shahin et al., 2019). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1673363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803642"><div><strong>Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803642</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.">C5676977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1803642">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult hypophosphatasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 5</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alkaptonuria</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly-arthropathy-coxa vara-pericarditis syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrocalcinosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sensory neuropathy with selective loss of small myelinated fibers</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial digital arthropathy-brachydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgE recurrent infection syndrome 4, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic osteoarthropathy, primary, autosomal recessive, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive pseudorheumatoid dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with congenital joint dislocations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_810955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome type 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Winchester syndrome</a></div></span></div></div>
|
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35662478">EASL Clinical Practice Guidelines on haemochromatosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
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<span class="medgenPMjournal">J Hepatol</span>
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2022 Aug;77(2):479-502.
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Epub 2022 Jun 1
|
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doi: 10.1016/j.jhep.2022.03.033.
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<span class="bold">PMID: </span><a href="/pubmed/35662478" target="_blank">35662478</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/34509300">Treatment of haemophilia: From replacement to gene therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Páramo JA</span><br />
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<span class="medgenPMjournal">Med Clin (Barc)</span>
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2021 Dec 24;157(12):583-587.
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Epub 2021 Sep 9
|
||
doi: 10.1016/j.medcli.2021.04.031.
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||
<span class="bold">PMID: </span><a href="/pubmed/34509300" target="_blank">34509300</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/28807894">Advances in the diagnosis and management of neck pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SP,
|
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Hooten WM</span><br />
|
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<span class="medgenPMjournal">BMJ</span>
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||
2017 Aug 14;358:j3221.
|
||
doi: 10.1136/bmj.j3221.
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<span class="bold">PMID: </span><a href="/pubmed/28807894" target="_blank">28807894</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22arthropathy%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 (414)</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/36096553">Etiology, Epidemiology, and Outcomes of Managing Charcot Arthropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hester T,
|
||
Kavarthapu V</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Clin</span>
|
||
2022 Sep;27(3):583-594.
|
||
Epub 2022 Aug 10
|
||
doi: 10.1016/j.fcl.2022.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36096553" target="_blank">36096553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34197690">Hemophilic arthropathy: Current knowledge and future perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gualtierotti R,
|
||
Solimeno LP,
|
||
Peyvandi F</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2021 Sep;19(9):2112-2121.
|
||
Epub 2021 Jul 27
|
||
doi: 10.1111/jth.15444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34197690" target="_blank">34197690</a><a href="/pmc/articles/PMC8456897" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32641254">Clinical insights into Charcot foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt BM</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2020 Jun;34(3):101563.
|
||
Epub 2020 Jul 5
|
||
doi: 10.1016/j.berh.2020.101563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32641254" target="_blank">32641254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23992896">The Charcot foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers LC,
|
||
Frykberg RG</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2013 Sep;97(5):847-56.
|
||
Epub 2013 May 16
|
||
doi: 10.1016/j.mcna.2013.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23992896" target="_blank">23992896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22843545">Charcot arthropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frykberg RG,
|
||
Sage RA,
|
||
Wukich DK,
|
||
Pinzur MS,
|
||
Schuberth JM</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Spec</span>
|
||
2012 Aug;5(4):262-71.
|
||
doi: 10.1177/1938640012451234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22843545" target="_blank">22843545</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arthropathy%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 (3145)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35084055">Charcot Joint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi PK,
|
||
Sethi NK</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2022 Mar;91(3):436-437.
|
||
Epub 2022 Feb 10
|
||
doi: 10.1002/ana.26310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35084055" target="_blank">35084055</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29987749">Jaccoud's Arthropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz Whitley J,
|
||
Aronowitz P</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2018 Sep;33(9):1583.
|
||
doi: 10.1007/s11606-018-4559-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29987749" target="_blank">29987749</a><a href="/pmc/articles/PMC6108998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28459425">Milwaukee Shoulder Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ersoy H,
|
||
Pomeranz SJ</span><br />
|
||
<span class="medgenPMjournal">J Surg Orthop Adv</span>
|
||
2017 Spring;26(1):54-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28459425" target="_blank">28459425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27587513">The Charcot foot: pathophysiology, diagnosis and classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trieb K</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2016 Sep;98-B(9):1155-9.
|
||
doi: 10.1302/0301-620X.98B9.37038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27587513" target="_blank">27587513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11232475">Charcot's foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinzur MS</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Clin</span>
|
||
2000 Dec;5(4):897-912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11232475" target="_blank">11232475</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arthropathy%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 (2981)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28459425">Milwaukee Shoulder Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ersoy H,
|
||
Pomeranz SJ</span><br />
|
||
<span class="medgenPMjournal">J Surg Orthop Adv</span>
|
||
2017 Spring;26(1):54-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28459425" target="_blank">28459425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26813619">Surgical treatment of the Charcot foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinzur MS</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Res Rev</span>
|
||
2016 Jan;32 Suppl 1:287-91.
|
||
doi: 10.1002/dmrr.2750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26813619" target="_blank">26813619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23992896">The Charcot foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers LC,
|
||
Frykberg RG</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2013 Sep;97(5):847-56.
|
||
Epub 2013 May 16
|
||
doi: 10.1016/j.mcna.2013.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23992896" target="_blank">23992896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20712776">Deferiprone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piga A,
|
||
Roggero S,
|
||
Salussolia I,
|
||
Massano D,
|
||
Serra M,
|
||
Longo F</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2010 Aug;1202:75-8.
|
||
doi: 10.1111/j.1749-6632.2010.05586.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20712776" target="_blank">20712776</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17325518">Pathogenesis, diagnosis, and treatment of lumbar zygapophysial (facet) joint pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SP,
|
||
Raja SN</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2007 Mar;106(3):591-614.
|
||
doi: 10.1097/00000542-200703000-00024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17325518" target="_blank">17325518</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arthropathy%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 (2107)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22843545">Charcot arthropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frykberg RG,
|
||
Sage RA,
|
||
Wukich DK,
|
||
Pinzur MS,
|
||
Schuberth JM</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Spec</span>
|
||
2012 Aug;5(4):262-71.
|
||
doi: 10.1177/1938640012451234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22843545" target="_blank">22843545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21205285">Epidemiology of gout.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roddy E,
|
||
Doherty M</span><br />
|
||
<span class="medgenPMjournal">Arthritis Res Ther</span>
|
||
2010;12(6):223.
|
||
Epub 2010 Dec 21
|
||
doi: 10.1186/ar3199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21205285" target="_blank">21205285</a><a href="/pmc/articles/PMC3046529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18165108">Epidemiology of the Charcot foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frykberg RG,
|
||
Belczyk R</span><br />
|
||
<span class="medgenPMjournal">Clin Podiatr Med Surg</span>
|
||
2008 Jan;25(1):17-28, v.
|
||
doi: 10.1016/j.cpm.2007.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18165108" target="_blank">18165108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17653719">Elderly-onset gout: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Leonardis F,
|
||
Govoni M,
|
||
Colina M,
|
||
Bruschi M,
|
||
Trotta F</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2007 Nov;28(1):1-6.
|
||
Epub 2007 Jul 26
|
||
doi: 10.1007/s00296-007-0421-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17653719" target="_blank">17653719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9609513">Can haemophilic arthropathy be prevented?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ljung RC</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
1998 May;101(2):215-9.
|
||
doi: 10.1046/j.1365-2141.1998.00707.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9609513" target="_blank">9609513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arthropathy%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 (1495)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26471860">Peripheral joint involvement in psoriatic arthritis patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acosta Felquer ML,
|
||
FitzGerald O</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2015 Sep-Oct;33(5 Suppl 93):S26-30.
|
||
Epub 2015 Oct 15
|
||
<span class="bold">PMID: </span><a href="/pubmed/26471860" target="_blank">26471860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24332203">Hemophilic arthropathy: a review of imaging and staging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cross S,
|
||
Vaidya S,
|
||
Fotiadis N</span><br />
|
||
<span class="medgenPMjournal">Semin Ultrasound CT MR</span>
|
||
2013 Dec;34(6):516-24.
|
||
doi: 10.1053/j.sult.2013.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24332203" target="_blank">24332203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23571706">Development and definition of a simplified scanning procedure and scoring method for Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinoli C,
|
||
Della Casa Alberighi O,
|
||
Di Minno G,
|
||
Graziano E,
|
||
Molinari AC,
|
||
Pasta G,
|
||
Russo G,
|
||
Santagostino E,
|
||
Tagliaferri A,
|
||
Tagliafico A,
|
||
Morfini M</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2013 Jun;109(6):1170-9.
|
||
Epub 2013 Apr 4
|
||
doi: 10.1160/TH12-11-0874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23571706" target="_blank">23571706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19822246">Imaging and staging of haemophilic arthropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jelbert A,
|
||
Vaidya S,
|
||
Fotiadis N</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
2009 Nov;64(11):1119-28.
|
||
Epub 2009 Sep 17
|
||
doi: 10.1016/j.crad.2009.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19822246" target="_blank">19822246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18165110">The diagnosis of Charcot foot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers LC,
|
||
Bevilacqua NJ</span><br />
|
||
<span class="medgenPMjournal">Clin Podiatr Med Surg</span>
|
||
2008 Jan;25(1):43-51, vi.
|
||
doi: 10.1016/j.cpm.2007.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18165110" target="_blank">18165110</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arthropathy%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 (2199)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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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|
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<div class="nl"><a target="_blank" href="/pubmed/35236617">Delayed Diagnosis of Charcot Foot: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korst GS,
|
||
Ratliff HT,
|
||
Torian J,
|
||
Jimoh RO,
|
||
Jupiter DC</span><br />
|
||
<span class="medgenPMjournal">J Foot Ankle Surg</span>
|
||
2022 Sep-Oct;61(5):1109-1113.
|
||
Epub 2022 Feb 23
|
||
doi: 10.1053/j.jfas.2022.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236617" target="_blank">35236617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33616421">Reverse total shoulder arthroplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burden EG,
|
||
Batten TJ,
|
||
Smith CD,
|
||
Evans JP</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2021 May;103-B(5):813-821.
|
||
Epub 2021 Feb 22
|
||
doi: 10.1302/0301-620X.103B.BJJ-2020-2101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33616421" target="_blank">33616421</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571081">Effectiveness of progressive and resisted and non-progressive or non-resisted exercise in rotator cuff related shoulder pain: a systematic review and meta-analysis of randomized controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naunton J,
|
||
Street G,
|
||
Littlewood C,
|
||
Haines T,
|
||
Malliaras P</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2020 Sep;34(9):1198-1216.
|
||
Epub 2020 Jun 22
|
||
doi: 10.1177/0269215520934147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571081" target="_blank">32571081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29928910">Prevalence of psoriatic arthritis in patients with psoriasis: A systematic review and meta-analysis of observational and clinical studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alinaghi F,
|
||
Calov M,
|
||
Kristensen LE,
|
||
Gladman DD,
|
||
Coates LC,
|
||
Jullien D,
|
||
Gottlieb AB,
|
||
Gisondi P,
|
||
Wu JJ,
|
||
Thyssen JP,
|
||
Egeberg A</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2019 Jan;80(1):251-265.e19.
|
||
Epub 2018 Jun 19
|
||
doi: 10.1016/j.jaad.2018.06.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29928910" target="_blank">29928910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28778632">A Systematic Review of Current Surgical Interventions for Charcot Neuroarthropathy of the Midfoot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shazadeh Safavi P,
|
||
Jupiter DC,
|
||
Panchbhavi V</span><br />
|
||
<span class="medgenPMjournal">J Foot Ankle Surg</span>
|
||
2017 Nov-Dec;56(6):1249-1252.
|
||
Epub 2017 Aug 1
|
||
doi: 10.1053/j.jfas.2017.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28778632" target="_blank">28778632</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arthropathy%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 (155)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0022408%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
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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=(%22arthropathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Arthropathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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