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<meta name="keywords" content="C1275116, abcc6, ar inherited pseudoxanthoma elasticum, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive pseudoxanthoma elasticum, disease or syndrome, gronblad strandberg syndrome, gronblad-strandberg syndrome, gronblad-strandberg-touraine syndrome, pseudoxanthoma elasticum, pseudoxanthoma elasticum, modifier of severity of, pxe, pxe, modifier of severity of, xylt1, xylt2, 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="Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Autosomal recessive inherited pseudoxanthoma elasticum (Concept Id: C1275116)
- MedGen - NCBI</title>
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<!--
UID=698415
ConceptID=C1275116
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive inherited pseudoxanthoma elasticum<span class="h1sub">(PXE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698415</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1275116</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>Gronblad Strandberg syndrome; PXE</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Autosomal recessive pseudoxanthoma elasticum (403812000)</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)&#10;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">Genes (locations):<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="ABCC6 - ID: 368 - NCBI Gene" href="/gene/368" class="medgenPMinfo">ABCC6</a> (16p13.11); <a target="_blank" title="XYLT1 - ID: 64131 - NCBI Gene" href="/gene/64131" class="medgenPMinfo">XYLT1</a> (16p12.3); <a target="_blank" title="XYLT2 - ID: 64132 - NCBI Gene" href="/gene/64132" class="medgenPMinfo">XYLT2</a> (17q21.33)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0009925" target="_blank">MONDO:0009925</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/264800" target="_blank">264800</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&amp;Expert=758">ORPHA758</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/NBK1113" target="_blank">Pseudoxanthoma Elasticum</a></div><div>Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span. [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/NBK1113#pxe.Summary" target="NBK1113">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Diagnosis" target="NBK1113">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Clinical_Characteristics" target="NBK1113">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Genetically_Related_Allelic_Disorder" target="NBK1113">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Differential_Diagnosis" target="NBK1113">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Management" target="NBK1113">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Genetic_Counseling" target="NBK1113">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Resources" target="NBK1113">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Molecular_Genetics" target="NBK1113">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.Chapter_Notes" target="NBK1113">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1113#pxe.References" target="NBK1113">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Sharon F Terry  |  Jouni Uitto   <a href="/books/NBK1113" target="NBK1113" title="NCBI Bookshelf: Pseudoxanthoma Elasticum">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_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Pseudoxanthoma elasticum is an inherited multisystem disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Bruch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye, including peau d'orange, angioid streaks, and choroidal neovascularizations (CNVs); of the skin, including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces; and of the cardiovascular system, with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings (summary by Finger et al., 2009).&#13;
Generalized arterial calcification of infancy-2 (GACI2; 614473) is an allelic disorder, also caused by homozygous or compound heterozygous mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012).  <a target="_blank" href="http://www.omim.org/entry/264800">http://www.omim.org/entry/264800</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_43786"><div><strong>Renovascular hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43786</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)&#10;Click for more information.">C0020545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of hypertension related to stenosis of the renal artery.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43786">Feature record</a> | <a href="/medgen?term=%22Renovascular%20hypertension%22%5BClinical%20Features%5D%20OR%2043786%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1929"><div><strong>Angina pectoris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1929</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)&#10;Click for more information.">C0002962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1929">Feature record</a> | <a href="/medgen?term=%22Angina%20pectoris%22%5BClinical%20Features%5D%20OR%201929%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_40111"><div><strong>Restrictive cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40111</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)&#10;Click for more information.">C0007196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/40111">Feature record</a> | <a href="/medgen?term=%22Restrictive%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%2040111%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3623"><div><strong>Coronary artery atherosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3623</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)&#10;Click for more information.">C0010054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3623">Feature record</a> | <a href="/medgen?term=%22Coronary%20artery%20atherosclerosis%22%5BClinical%20Features%5D%20OR%203623%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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)&#10;Click for more information.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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)&#10;Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7115"><div><strong>Intermittent claudication</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7115</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)&#10;Click for more information.">C0021775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7115">Feature record</a> | <a href="/medgen?term=%22Intermittent%20claudication%22%5BClinical%20Features%5D%20OR%207115%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</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)&#10;Click for more information.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44466"><div><strong>Mitral stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44466</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)&#10;Click for more information.">C0026269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal narrowing of the orifice of the mitral valve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44466">Feature record</a> | <a href="/medgen?term=%22Mitral%20stenosis%22%5BClinical%20Features%5D%20OR%2044466%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52522"><div><strong>Stroke disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52522</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)&#10;Click for more information.">C0038454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52522">Feature record</a> | <a href="/medgen?term=%22Stroke%20disorder%22%5BClinical%20Features%5D%20OR%2052522%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68554"><div><strong>Weak pulse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68554</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)&#10;Click for more information.">C0232132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68554">Feature record</a> | <a href="/medgen?term=%22Weak%20pulse%22%5BClinical%20Features%5D%20OR%2068554%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_376623"><div><strong>Accelerated atherosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376623</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)&#10;Click for more information.">C1849618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376623">Feature record</a> | <a href="/medgen?term=%22Accelerated%20atherosclerosis%22%5BClinical%20Features%5D%20OR%20376623%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8971"><div><strong>Gastrointestinal hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8971</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)&#10;Click for more information.">C0017181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Hemorrhage affecting the gastrointestinal tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8971">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20hemorrhage%22%5BClinical%20Features%5D%20OR%208971%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892993"><div><strong>Decreased DLCO</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892993</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)&#10;Click for more information.">C4073175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892993">Feature record</a> | <a href="/medgen?term=%22Decreased%20DLCO%22%5BClinical%20Features%5D%20OR%20892993%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1716730"><div><strong>White oral mucosal macule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716730</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)&#10;Click for more information.">C5398009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1716730">Feature record</a> | <a href="/medgen?term=%22White%20oral%20mucosal%20macule%22%5BClinical%20Features%5D%20OR%201716730%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8206"><div><strong>Cutis laxa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8206</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)&#10;Click for more information.">C0010495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wrinkled, redundant, inelastic and sagging skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8206">Feature record</a> | <a href="/medgen?term=%22Cutis%20laxa%22%5BClinical%20Features%5D%20OR%208206%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_90706"><div><strong>Civatte bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90706</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)&#10;Click for more information.">C0333440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90706">Feature record</a> | <a href="/medgen?term=%22Civatte%20bodies%22%5BClinical%20Features%5D%20OR%2090706%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1373750"><div><strong>Yellow papule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373750</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)&#10;Click for more information.">C2033396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A papule with yellow color.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1373750">Feature record</a> | <a href="/medgen?term=%22Yellow%20papule%22%5BClinical%20Features%5D%20OR%201373750%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1541"><div><strong>Angioid streaks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1541</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)&#10;Click for more information.">C0002982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1541">Feature record</a> | <a href="/medgen?term=%22Angioid%20streaks%22%5BClinical%20Features%5D%20OR%201541%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7434"><div><strong>Macular degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7434</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)&#10;Click for more information.">C0024437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7434">Feature record</a> | <a href="/medgen?term=%22Macular%20degeneration%22%5BClinical%20Features%5D%20OR%207434%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14495"><div><strong>Optic disc drusen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14495</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)&#10;Click for more information.">C0029128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14495">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20drusen%22%5BClinical%20Features%5D%20OR%2014495%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11210"><div><strong>Retinal hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11210</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)&#10;Click for more information.">C0035317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Hemorrhage occurring within the retina.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11210">Feature record</a> | <a href="/medgen?term=%22Retinal%20hemorrhage%22%5BClinical%20Features%5D%20OR%2011210%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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)&#10;Click for more information.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Diminished clarity of vision.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154726"><div><strong>Choroidal neovascularization</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154726</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)&#10;Click for more information.">C0600518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154726">Feature record</a> | <a href="/medgen?term=%22Choroidal%20neovascularization%22%5BClinical%20Features%5D%20OR%20154726%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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)&#10;Click for more information.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1713761"><div><strong>Retinal peau d'orange</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713761</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)&#10;Click for more information.">C5398025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1713761">Feature record</a> | <a href="/medgen?term=%22Retinal%20peau%20d'orange%22%5BClinical%20Features%5D%20OR%201713761%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1716730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White oral mucosal macule</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376623" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Accelerated atherosclerosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angina pectoris</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3623" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronary artery atherosclerosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intermittent claudication</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stroke disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weak pulse</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal hemorrhage</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angioid streaks</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154726" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroidal neovascularization</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular degeneration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc drusen</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal hemorrhage</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1713761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal peau d'orange</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renovascular hypertension</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Civatte bodies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8206" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1373750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yellow papule</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased DLCO</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0033847[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=18733">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18733" target="_blank" href="/omim/264800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1113/" ref="ncbi_uid=18733">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=18733" ref="ncbi_uid=18733">V</a></span></span><span class="TLline"><a href="/medgen/18733" ref="tree=GTR&amp;ncbi_uid=18733&amp;link_uid=18733" title="View MedGen record for 'Pseudoxanthoma elasticum'">Pseudoxanthoma elasticum</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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"><a href="/medgen/698082" ref="tree=GTR&amp;ncbi_uid=698082&amp;link_uid=698082" title="View MedGen record for 'Acquired pseudoxanthoma elasticum'">Acquired pseudoxanthoma elasticum</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1275116[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=698415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1113/" ref="ncbi_uid=698415">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=698415" ref="ncbi_uid=698415">V</a></span></span><span class="TLline">Autosomal recessive inherited pseudoxanthoma elasticum</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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"><a href="/medgen/697574" ref="tree=GTR&amp;ncbi_uid=697574&amp;link_uid=697574" title="View MedGen record for 'Inherited pseudoxanthoma elasticum'">Inherited pseudoxanthoma elasticum</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867450[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=357280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357280" target="_blank" href="/omim/177850">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1113/" ref="ncbi_uid=357280">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=357280" ref="ncbi_uid=357280">V</a></span></span><span class="TLline"><a href="/medgen/357280" ref="tree=GTR&amp;ncbi_uid=357280&amp;link_uid=357280" title="View MedGen record for 'Pseudoxanthoma elasticum, forme fruste'">Pseudoxanthoma elasticum, forme fruste</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/468561" ref="tree=MeSH" title="MedGen record for Familial restrictive cardiomyopathy">Familial restrictive cardiomyopathy</a></span><ul><li><span class="matched_ds">Autosomal recessive inherited pseudoxanthoma elasticum</span></li></ul></li></ul></div></div></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_114">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
<div class="nl"><a target="_blank" href="/pubmed/21671388">Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Uitto J,
Bercovitch L,
Terry SF,
Terry PF</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2011 Jul;155A(7):1517-26.
Epub 2011 Jun 10
doi: 10.1002/ajmg.a.34067.
<span class="bold">PMID: </span><a href="/pubmed/21671388" target="_blank">21671388</a><a href="/pmc/articles/PMC3121926" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
</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/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
Chen FK</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2024 Jan-Feb;69(1):1-23.
Epub 2023 Aug 6
doi: 10.1016/j.survophthal.2023.07.007.
<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33813081">Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bruno G,
Ritelli M,
Di Pietro A,
Cipriano L,
Colombi M,
Lus G,
Puoti G</span><br />
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
2021 Jun;30(6):105744.
Epub 2021 Apr 1
doi: 10.1016/j.jstrokecerebrovasdis.2021.105744.
<span class="bold">PMID: </span><a href="/pubmed/33813081" target="_blank">33813081</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28658601">Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martin L,
Hoppé E,
Kauffenstein G,
Omarjee L,
Navasiolava N,
Henni S,
Willoteaux S,
Leftheriotis G</span><br />
<span class="medgenPMjournal">Bone</span>
2017 Oct;103:88-92.
Epub 2017 Jun 27
doi: 10.1016/j.bone.2017.06.017.
<span class="bold">PMID: </span><a href="/pubmed/28658601" target="_blank">28658601</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28486967">Pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Germain DP</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2017 May 10;12(1):85.
doi: 10.1186/s13023-017-0639-8.
<span class="bold">PMID: </span><a href="/pubmed/28486967" target="_blank">28486967</a><a href="/pmc/articles/PMC5424392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1100089">Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pope FM</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
1975 May;92(5):493-509.
doi: 10.1111/j.1365-2133.1975.tb03117.x.
<span class="bold">PMID: </span><a href="/pubmed/1100089" target="_blank">1100089</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20inherited%20pseudoxanthoma%20elasticum%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39090009">Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghaoui N,
Abou-Rahal J,
Nasser N,
Kurban M,
Abbas O</span><br />
<span class="medgenPMjournal">Skinmed</span>
2024;22(3):172-177.
Epub 2024 Aug 2
<span class="bold">PMID: </span><a href="/pubmed/39090009" target="_blank">39090009</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
Chen FK</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2024 Jan-Feb;69(1):1-23.
Epub 2023 Aug 6
doi: 10.1016/j.survophthal.2023.07.007.
<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26564082">Pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Roach ES,
Islam MP</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2015;132:215-21.
doi: 10.1016/B978-0-444-62702-5.00015-9.
<span class="bold">PMID: </span><a href="/pubmed/26564082" target="_blank">26564082</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21210805">Pseudoxanthoma elasticum and sudden death.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Combrinck M,
Gilbert JD,
Byard RW</span><br />
<span class="medgenPMjournal">J Forensic Sci</span>
2011 Mar;56(2):418-22.
Epub 2011 Jan 6
doi: 10.1111/j.1556-4029.2010.01647.x.
<span class="bold">PMID: </span><a href="/pubmed/21210805" target="_blank">21210805</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19298904">Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finger RP,
Charbel Issa P,
Ladewig MS,
Götting C,
Szliska C,
Scholl HP,
Holz FG</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2009 Mar-Apr;54(2):272-85.
doi: 10.1016/j.survophthal.2008.12.006.
<span class="bold">PMID: </span><a href="/pubmed/19298904" target="_blank">19298904</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20inherited%20pseudoxanthoma%20elasticum%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 (16)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/26564082">Pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Roach ES,
Islam MP</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2015;132:215-21.
doi: 10.1016/B978-0-444-62702-5.00015-9.
<span class="bold">PMID: </span><a href="/pubmed/26564082" target="_blank">26564082</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21435181">Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">LaRusso J,
Li Q,
Uitto J</span><br />
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
2011 Aug;9(8):586-93.
Epub 2011 Mar 16
doi: 10.1111/j.1610-0387.2011.07658.x.
<span class="bold">PMID: </span><a href="/pubmed/21435181" target="_blank">21435181</a><a href="/pmc/articles/PMC3307339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20inherited%20pseudoxanthoma%20elasticum%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/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
Chen FK</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2024 Jan-Feb;69(1):1-23.
Epub 2023 Aug 6
doi: 10.1016/j.survophthal.2023.07.007.
<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21210805">Pseudoxanthoma elasticum and sudden death.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Combrinck M,
Gilbert JD,
Byard RW</span><br />
<span class="medgenPMjournal">J Forensic Sci</span>
2011 Mar;56(2):418-22.
Epub 2011 Jan 6
doi: 10.1111/j.1556-4029.2010.01647.x.
<span class="bold">PMID: </span><a href="/pubmed/21210805" target="_blank">21210805</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9302259">Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Struk B,
Neldner KH,
Rao VS,
St Jean P,
Lindpaintner K</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
1997 Oct;6(11):1823-8.
doi: 10.1093/hmg/6.11.1823.
<span class="bold">PMID: </span><a href="/pubmed/9302259" target="_blank">9302259</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20inherited%20pseudoxanthoma%20elasticum%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/28658601">Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martin L,
Hoppé E,
Kauffenstein G,
Omarjee L,
Navasiolava N,
Henni S,
Willoteaux S,
Leftheriotis G</span><br />
<span class="medgenPMjournal">Bone</span>
2017 Oct;103:88-92.
Epub 2017 Jun 27
doi: 10.1016/j.bone.2017.06.017.
<span class="bold">PMID: </span><a href="/pubmed/28658601" target="_blank">28658601</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19903435">Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fabbri E,
Forni GL,
Guerrini G,
Borgna-Pignatti C</span><br />
<span class="medgenPMjournal">Dermatol Online J</span>
2009 Jul 15;15(7):7.
<span class="bold">PMID: </span><a href="/pubmed/19903435" target="_blank">19903435</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16604369">ABCC6 and pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bergen AA,
Plomp AS,
Hu X,
de Jong PT,
Gorgels TG</span><br />
<span class="medgenPMjournal">Pflugers Arch</span>
2007 Feb;453(5):685-91.
Epub 2006 Apr 8
doi: 10.1007/s00424-005-0039-0.
<span class="bold">PMID: </span><a href="/pubmed/16604369" target="_blank">16604369</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10835643">Mutations in ABCC6 cause pseudoxanthoma elasticum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bergen AA,
Plomp AS,
Schuurman EJ,
Terry S,
Breuning M,
Dauwerse H,
Swart J,
Kool M,
van Soest S,
Baas F,
ten Brink JB,
de Jong PT</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2000 Jun;25(2):228-31.
doi: 10.1038/76109.
<span class="bold">PMID: </span><a href="/pubmed/10835643" target="_blank">10835643</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9302259">Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Struk B,
Neldner KH,
Rao VS,
St Jean P,
Lindpaintner K</span><br />
<span class="medgenPMjournal">Hum Mol Genet</span>
1997 Oct;6(11):1823-8.
doi: 10.1093/hmg/6.11.1823.
<span class="bold">PMID: </span><a href="/pubmed/9302259" target="_blank">9302259</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20inherited%20pseudoxanthoma%20elasticum%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 (7)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1275116%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (41)</a></li>
<li><a href="/gtr/tests?term=C1275116%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C1275116%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (47)</a></li>
<li><a href="/gtr/tests?term=C1275116%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1275116%5bDISCUI%5d" target="_blank">See all (55)</a></total></li>
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