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<meta name="keywords" content="C0024141, ctla4, disease or syndrome, disseminated lupus erythematosus, dnase1, excess lmw-dna, excess lymphocyte low molecular weight dna, fcgr2a, fcgr2b, lupus, lupus erythematosus disseminatus, lupus erythematosus, systemic, lupus nephritis, susceptibility to, ptpn22, sle, sle - lupus erythematosus, systemic, sle - systemic lupus erythematosus, systemic lupus erythematosus, systemic lupus erythematosus (disease), systemic lupus erythematosus susceptibility to, systemic lupus erythematosus, susceptibility to, trex1, 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="Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6146
|
||
ConceptID=C0024141
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Systemic lupus erythematosus<span class="h1sub">(SLE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6146</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:">C0024141</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>SLE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>SLE - Systemic lupus erythematosus (55464009); Systemic lupus erythematosus (55464009); Disseminated lupus erythematosus (55464009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</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="CTLA4 - ID: 1493 - NCBI Gene" href="/gene/1493" class="medgenPMinfo">CTLA4</a> (2q33.2); <a target="_blank" title="DNASE1 - ID: 1773 - NCBI Gene" href="/gene/1773" class="medgenPMinfo">DNASE1</a> (16p13.3); <a target="_blank" title="FCGR2A - ID: 2212 - NCBI Gene" href="/gene/2212" class="medgenPMinfo">FCGR2A</a> (1q23.3); <a target="_blank" title="FCGR2B - ID: 2213 - NCBI Gene" href="/gene/2213" class="medgenPMinfo">FCGR2B</a> (1q23.3); <a target="_blank" title="PTPN22 - ID: 26191 - NCBI Gene" href="/gene/26191" class="medgenPMinfo">PTPN22</a> (1p13.2); <a target="_blank" title="TREX1 - ID: 11277 - NCBI Gene" href="/gene/11277" class="medgenPMinfo">TREX1</a> (3p21.31)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/7100">TLR5</a>, <a target="_blank" href="/gene/6775">STAT4</a>, <a target="_blank" href="/gene/3663">IRF5</a>, <a target="_blank" href="/gene/1380">CR2</a></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:0002725">HP:0002725</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007915" target="_blank">MONDO:0007915</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/152700" target="_blank">152700</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=536">ORPHA536</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<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">Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</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.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2043"><div><strong>Arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2043</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.">C0003864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2043">Feature record</a> | <a href="/medgen?term=%22Arthritis%22%5BClinical%20Features%5D%20OR%202043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10807"><div><strong>Pleuritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10807</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.">C0032231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the pleura.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10807">Feature record</a> | <a href="/medgen?term=%22Pleuritis%22%5BClinical%20Features%5D%20OR%2010807%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6073"><div><strong>Leukopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6073</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.">C0023530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal decreased number of leukocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6073">Feature record</a> | <a href="/medgen?term=%22Leukopenia%22%5BClinical%20Features%5D%20OR%206073%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6146"><div><strong>Systemic lupus erythematosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6146</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:">C0024141</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6146">Feature record</a> | <a href="/medgen?term=%22Systemic%20lupus%20erythematosus%22%5BClinical%20Features%5D%20OR%206146%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6147"><div><strong>Lupus nephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6147</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.">C0024143</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6147">Feature record</a> | <a href="/medgen?term=%22Lupus%20nephritis%22%5BClinical%20Features%5D%20OR%206147%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14328"><div><strong>Nephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14328</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.">C0027697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of inflammation affecting the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14328">Feature record</a> | <a href="/medgen?term=%22Nephritis%22%5BClinical%20Features%5D%20OR%2014328%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18377"><div><strong>Pericarditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18377</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.">C0031046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the sac-like covering around the heart (pericardium).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18377">Feature record</a> | <a href="/medgen?term=%22Pericarditis%22%5BClinical%20Features%5D%20OR%2018377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101792"><div><strong>Antinuclear antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101792</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.">C0151480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies in the serum that react against nuclei or nuclear components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Antinuclear%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20101792%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75808"><div><strong>Malar rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75808</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.">C0277942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75808">Feature record</a> | <a href="/medgen?term=%22Malar%20rash%22%5BClinical%20Features%5D%20OR%2075808%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866404"><div><strong>Antiphospholipid antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866404</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.">C4019436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of circulating autoantibodies to phospholipids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866404">Feature record</a> | <a href="/medgen?term=%22Antiphospholipid%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20866404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87601"><div><strong>Cutaneous photosensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87601</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.">C0349506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87601">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20photosensitivity%22%5BClinical%20Features%5D%20OR%2087601%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antinuclear antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antiphospholipid antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lupus nephritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar rash</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pericarditis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus</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_87601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous photosensitivity</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthritis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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_10807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleuritis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024141[DISCUI]&test_type=Clinical" ref="ncbi_uid=6146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=6146" target="_blank" href="/omim/152700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6146" ref="ncbi_uid=6146">V</a></span></span><span class="TLline">Systemic lupus erythematosus</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866373[DISCUI]&test_type=Clinical" ref="ncbi_uid=355700">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355700" target="_blank" href="/omim/601744">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355700" ref="tree=GTR&ncbi_uid=355700&link_uid=355700" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 1'">Systemic lupus erythematosus, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854577[DISCUI]&test_type=Clinical" ref="ncbi_uid=343159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343159" target="_blank" href="/omim/605218">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/343159" ref="tree=GTR&ncbi_uid=343159&link_uid=343159" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 2'">Systemic lupus erythematosus, susceptibility to, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381377" target="_blank" href="/omim/605480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381377" ref="tree=GTR&ncbi_uid=381377&link_uid=381377" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 3'">Systemic lupus erythematosus, susceptibility to, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374849" target="_blank" href="/omim/608437">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/374849" ref="tree=GTR&ncbi_uid=374849&link_uid=374849" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 4'">Systemic lupus erythematosus, susceptibility to, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322783" target="_blank" href="/omim/609903">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/322783" ref="tree=GTR&ncbi_uid=322783&link_uid=322783" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 5'">Systemic lupus erythematosus, susceptibility to, 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835919[DISCUI]&test_type=Clinical" ref="ncbi_uid=332086">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332086" target="_blank" href="/omim/609939">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/332086" ref="tree=GTR&ncbi_uid=332086&link_uid=332086" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 6'">Systemic lupus erythematosus, susceptibility to, 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355279" target="_blank" href="/omim/610065">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355279" ref="tree=GTR&ncbi_uid=355279&link_uid=355279" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 7'">Systemic lupus erythematosus, susceptibility to, 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355278" target="_blank" href="/omim/610066">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355278" ref="tree=GTR&ncbi_uid=355278&link_uid=355278" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 8'">Systemic lupus erythematosus, susceptibility to, 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970455[DISCUI]&test_type=Clinical" ref="ncbi_uid=369736">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369736" target="_blank" href="/omim/120650">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=369736" ref="ncbi_uid=369736">V</a></span></span><span class="TLline"><a href="/medgen/369736" ref="tree=GTR&ncbi_uid=369736&link_uid=369736" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 9'">Systemic lupus erythematosus, susceptibility to, 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677097[DISCUI]&test_type=Clinical" ref="ncbi_uid=436859">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436859" target="_blank" href="/omim/607218">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436859" ref="ncbi_uid=436859">V</a></span></span><span class="TLline"><a href="/medgen/436859" ref="tree=GTR&ncbi_uid=436859&link_uid=436859" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 10'">Systemic lupus erythematosus, susceptibility to, 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677096[DISCUI]&test_type=Clinical" ref="ncbi_uid=393656">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393656" target="_blank" href="/omim/600558">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393656" ref="ncbi_uid=393656">V</a></span></span><span class="TLline"><a href="/medgen/393656" ref="tree=GTR&ncbi_uid=393656&link_uid=393656" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 11'">Systemic lupus erythematosus, susceptibility to, 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436858" target="_blank" href="/omim/612254">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/436858" ref="tree=GTR&ncbi_uid=436858&link_uid=436858" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 12'">Systemic lupus erythematosus, susceptibility to, 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382864" target="_blank" href="/omim/612378">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/382864" ref="tree=GTR&ncbi_uid=382864&link_uid=382864" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 13'">Systemic lupus erythematosus, susceptibility to, 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413921" target="_blank" href="/omim/613145">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/413921" ref="tree=GTR&ncbi_uid=413921&link_uid=413921" title="View MedGen record for 'Systemic lupus erythematosus, susceptibility to, 14'">Systemic lupus erythematosus, susceptibility to, 14</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/232638" ref="tree=MeSH" title="MedGen record for Immune System and Related Disorders">Immune System and Related Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/5759" ref="tree=MeSH" title="MedGen record for Immune system disorder">Immune system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/2135" ref="tree=MeSH" title="MedGen record for Autoimmune disease">Autoimmune disease</a></span><ul><li><span class="matched_ds">Systemic lupus erythematosus</span><ul><li><span class="TLline"><a href="/medgen/592738" ref="tree=MeSH" title="MedGen record for Bullous systemic lupus erythematosus">Bullous systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/156265" ref="tree=MeSH" title="MedGen record for Central nervous system lupus">Central nervous system lupus</a></span></li><li><span class="TLline"><a href="/medgen/482373" ref="tree=MeSH" title="MedGen record for Childhood-Onset Systemic Lupus Erythematosus">Childhood-Onset Systemic Lupus Erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/149262" ref="tree=MeSH" title="MedGen record for Lupus Encephalitis">Lupus Encephalitis</a></span></li><li><span class="TLline"><a href="/medgen/6147" ref="tree=MeSH" title="MedGen record for Lupus nephritis">Lupus nephritis</a></span><ul><li><span class="TLline"><a href="/medgen/885820" ref="tree=MeSH" title="MedGen record for Advanced sclerotic lupus nephritis">Advanced sclerotic lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/883248" ref="tree=MeSH" title="MedGen record for Diffuse lupus nephritis">Diffuse lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/891112" ref="tree=MeSH" title="MedGen record for Focal lupus nephritis">Focal lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/884707" ref="tree=MeSH" title="MedGen record for Membranous lupus nephritis">Membranous lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/882510" ref="tree=MeSH" title="MedGen record for Mesangial proliferative lupus nephritis">Mesangial proliferative lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/888809" ref="tree=MeSH" title="MedGen record for Minimal mesangial lupus nephritis">Minimal mesangial lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/890480" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV G">Systemic Lupus Erythematosus Nephritis Class IV G</a></span></li><li><span class="TLline"><a href="/medgen/882190" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV S">Systemic Lupus Erythematosus Nephritis Class IV S</a></span></li><li><span class="TLline"><a href="/medgen/887958" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class V">Systemic Lupus Erythematosus Nephritis Class V</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101066" ref="tree=MeSH" title="MedGen record for Rash of systemic lupus erythematosus">Rash of systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/355700" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 1">Systemic lupus erythematosus, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/343159" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 2">Systemic lupus erythematosus, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/381377" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 3">Systemic lupus erythematosus, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/374849" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 4">Systemic lupus erythematosus, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/322783" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 5">Systemic lupus erythematosus, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/332086" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 6">Systemic lupus erythematosus, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/355279" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 7">Systemic lupus erythematosus, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/355278" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 8">Systemic lupus erythematosus, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/369736" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 9">Systemic lupus erythematosus, susceptibility to, 9</a></span></li><li><span class="TLline"><a href="/medgen/436859" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 10">Systemic lupus erythematosus, susceptibility to, 10</a></span></li><li><span class="TLline"><a href="/medgen/393656" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 11">Systemic lupus erythematosus, susceptibility to, 11</a></span></li><li><span class="TLline"><a href="/medgen/436858" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 12">Systemic lupus erythematosus, susceptibility to, 12</a></span></li><li><span class="TLline"><a href="/medgen/382864" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 13">Systemic lupus erythematosus, susceptibility to, 13</a></span></li><li><span class="TLline"><a href="/medgen/413921" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 14">Systemic lupus erythematosus, susceptibility to, 14</a></span></li></ul></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_6146"><div><strong>Systemic lupus erythematosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6146</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:">C0024141</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">Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6146">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120647"><div><strong>Prolidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120647</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.">C0268532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and organomegaly (typically splenomegaly but occasionally associated with hepatomegaly) with elevated liver enzymes. Skeletal anomalies, chronic pulmonary disease, anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are observed in a minority of affected individuals. An association between prolidase deficiency and autoimmune conditions – particularly systemic lupus erythematosus (SLE) – has been described.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120647">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331795"><div><strong>Myasthenia, limb-girdle, autoimmune</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331795</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.">C1834635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331795">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332086"><div><strong>Systemic lupus erythematosus, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332086</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.">C1835919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332086">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375009"><div><strong>Spondyloenchondrodysplasia with immune dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375009</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.">C1842763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375009">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343867"><div><strong>C1 inhibitor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343867</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.">C1852700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Patients with partial deficiency of complement component-4 have serum C4 concentrations between 2 and 24% of normal values. One patient with systemic lupus erythematosus has been reported, but other patients had no clinical evidence of immune complex disease. Serum Cl inhibitor from affected individuals exhibits diminished C1r (613785) binding, preserved C1s (120580) binding, and relative resistance to trypsin (summary by Zahedi et al., 1995).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343867">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_461625"><div><strong>Complement component 2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461625</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.">C3150275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The complement system is a set of plasma proteins that serves as an effector of several biologic functions associated with inflammation, immunoregulation, and cytotoxicity. Deficiency of complement component-2 (C2D) is the most common defect of the complement system in persons of western European descent. In type I C2 deficiency, no C2 protein is translated; in type II, there is a selective block in C2 secretion. More than half of individuals with homozygous C2 deficiency have rheumatologic disorders such as systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. Other individuals experience recurrent pyogenic infections, and some C2-deficient individuals are asymptomatic (summary by Johnson et al., 1992, Wetsel et al., 1996).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/461625">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462252"><div><strong>C1Q deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462252</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.">C3150902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007). Genetic Heterogeneity of C1q Deficiency See also C1q deficiency-2 (C1QD2; 620321), caused by mutation in the C1QB gene (120570), and C1q deficiency-3 (C1QD3; 620322), caused by mutation in the C1QC gene (120575).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462252">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462421"><div><strong>Complement component 3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462421</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.">C3151071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462421">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462428"><div><strong>Complement component C1s deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462428</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.">C3151078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complement component C1s deficiency (C1SD) is an autosomal recessive disorder characterized by the presence of autoimmune diseases including a systemic lupus erythematosus-like disorder, Hashimoto thyroiditis, autoimmune hepatitis, and chronic glomerulonephritis (Inoue et al., 1998, Dragon-Durey et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462431"><div><strong>Type I complement component 8 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462431</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.">C3151081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two kinds of inherited C8 deficiency have been reported in humans: type I (C8D1), in which only C8 alpha and C8 gamma (C8G; 120930) are deficient, and type II (C8D2; 613789), in which only C8 beta (C8B; 120960) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462431">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462435"><div><strong>Immunodeficiency due to MASP-2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462435</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.">C3151085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some African populations. Some MASP2-deficient individuals have increased risk of infection or autoimmune disease, but most are asymptomatic. MASP2 plays a role in activation of the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Thiel et al., 2007 and Sokolowska et al., 2015). For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462435">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482272"><div><strong>Complement component 4a deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482272</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.">C3280642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482272">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482372"><div><strong>Autosomal systemic lupus erythematosus type 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482372</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.">C3280742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482372">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895780"><div><strong>DDX41-related hematologic malignancy predisposition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895780</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.">C4225174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DDX41-associated familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) is characterized by an increased risk of myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis. The most common myeloid neoplasms include MDS, AML, and therapy-related myeloid neoplasms. Chronic myelomonocytic leukemia, chronic myeloid leukemia, and myeloproliferative neoplasms are less common. Lymphoid neoplasms include non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, chronic lymphocytic leukemia, and acute lymphoblastic leukemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716712"><div><strong>Epilepsy, progressive myoclonic, 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716712</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.">C5394362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive myoclonic epilepsy-11 (EPM11) is a neurodegenerative disorder characterized by onset of developmental regression and various types of seizures around 2 years of age after relatively normal early development. The seizures are usually refractory to treatment and are associated with multiple abnormalities on EEG. During the first and second decades, affected individuals develop additional neurologic signs and symptoms, including pyramidal, extrapyramidal, and cerebellar signs such as spasticity, loss of independent ambulation, myoclonus, tremor, and ataxia. Cognitive impairment is severe, and patients can speak only a few words or are non-verbal (summary by Hamanaka et al., 2020). For discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716712">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784363"><div><strong>Autoinflammatory syndrome with immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784363</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.">C5543547</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SLE; see 152700). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Hadjadj et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804329"><div><strong>Systemic lupus erythematosus 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804329</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.">C5676884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic lupus erythematosus-17 (SLEB17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB (164011) signaling, the latter being consistent with a gain-of-function effect (Brown et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804329">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840213"><div><strong>Autoinflammatory disease, multisystem, with immune dysregulation, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840213</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.">C5829577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals may present with variable cytopenias, including anemia, thrombocytopenia, neutropenia, lymphopenia, or hypogammaglobulinemia, and systemic or organ-specific autoinflammatory manifestations. These include skin lesions, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Some patients have circulating autoantibodies that underlie the cytopenias or systemic features, whereas others do not have circulating autoantibodies. In addition, some patients have recurrent infections, whereas others do not show signs of an immunodeficiency. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy. Severe complications of the disease may result in death in childhood (Boussard et al., 2023; Block et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840213">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory disease, multisystem, with immune dysregulation, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory syndrome with immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal systemic lupus erythematosus type 16</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C1 inhibitor deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C1Q deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component 2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component 3 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component 4a deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component C1s deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DDX41-related hematologic malignancy predisposition syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1716712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, progressive myoclonic, 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency due to MASP-2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia, limb-girdle, autoimmune</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloenchondrodysplasia with immune dysregulation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus, susceptibility to, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type I complement component 8 deficiency</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37014337">Diagnosis and Treatment of Acute Myocarditis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ammirati E,
|
||
Moslehi JJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Apr 4;329(13):1098-1113.
|
||
doi: 10.1001/jama.2023.3371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37014337" target="_blank">37014337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33051219">Update οn the diagnosis and management of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fanouriakis A,
|
||
Tziolos N,
|
||
Bertsias G,
|
||
Boumpas DT</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2021 Jan;80(1):14-25.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1136/annrheumdis-2020-218272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33051219" target="_blank">33051219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24034070">Systemic lupus erythematosus: epidemiology, pathophysiology, manifestations, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortuna G,
|
||
Brennan MT</span><br />
|
||
<span class="medgenPMjournal">Dent Clin North Am</span>
|
||
2013 Oct;57(4):631-55.
|
||
doi: 10.1016/j.cden.2013.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24034070" target="_blank">24034070</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22systemic%20lupus%20erythematosus%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 (2021)</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/35804480">Systemic Lupus Erythematosus: New Diagnostic and Therapeutic Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lazar S,
|
||
Kahlenberg JM</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2023 Jan 27;74:339-352.
|
||
Epub 2022 Jul 8
|
||
doi: 10.1146/annurev-med-043021-032611.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35804480" target="_blank">35804480</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34215376">Systemic Lupus Erythematosus Classification and Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aringer M,
|
||
Johnson SR</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2021 Aug;47(3):501-511.
|
||
Epub 2021 Jun 10
|
||
doi: 10.1016/j.rdc.2021.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34215376" target="_blank">34215376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32479157">Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiriakidou M,
|
||
Ching CL</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2020 Jun 2;172(11):ITC81-ITC96.
|
||
doi: 10.7326/AITC202006020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32479157" target="_blank">32479157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31677989">Pregnancy and Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petri M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2020 Apr;64:24-30.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1016/j.bpobgyn.2019.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31677989" target="_blank">31677989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24081299">Systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiriakidou M,
|
||
Cotton D,
|
||
Taichman D,
|
||
Williams S</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2013 Oct 1;159(7):ITC4-1.
|
||
doi: 10.7326/0003-4819-159-7-201310010-01004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24081299" target="_blank">24081299</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Systemic%20lupus%20erythematosus%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 (20816)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35088691">One year in review 2022: systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zucchi D,
|
||
Elefante E,
|
||
Schilirò D,
|
||
Signorini V,
|
||
Trentin F,
|
||
Bortoluzzi A,
|
||
Tani C</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2022 Jan;40(1):4-14.
|
||
Epub 2022 Jan 28
|
||
doi: 10.55563/clinexprheumatol/nolysy.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35088691" target="_blank">35088691</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34206696">Clinical and Immunological Biomarkers for Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu H,
|
||
Nagafuchi Y,
|
||
Fujio K</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Jun 22;11(7)
|
||
doi: 10.3390/biom11070928.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34206696" target="_blank">34206696</a><a href="/pmc/articles/PMC8301935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32586673">Systemic lupus erythematosus 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narváez J</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2020 Dec 11;155(11):494-501.
|
||
Epub 2020 Jun 23
|
||
doi: 10.1016/j.medcli.2020.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32586673" target="_blank">32586673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32479157">Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiriakidou M,
|
||
Ching CL</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2020 Jun 2;172(11):ITC81-ITC96.
|
||
doi: 10.7326/AITC202006020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32479157" target="_blank">32479157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26922326">Systemic lupus erythematosus: Is it one disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivas-Larrauri F,
|
||
Yamazaki-Nakashimada MA</span><br />
|
||
<span class="medgenPMjournal">Reumatol Clin</span>
|
||
2016 Sep-Oct;12(5):274-81.
|
||
Epub 2016 Feb 26
|
||
doi: 10.1016/j.reuma.2016.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26922326" target="_blank">26922326</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Systemic%20lupus%20erythematosus%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 (21277)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34244988">An Update on the Management of Childhood-Onset Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trindade VC,
|
||
Carneiro-Sampaio M,
|
||
Bonfa E,
|
||
Silva CA</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2021 Jul;23(4):331-347.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1007/s40272-021-00457-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34244988" target="_blank">34244988</a><a href="/pmc/articles/PMC8270778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33324003">B cell depletion therapies in autoimmune disease: advances and mechanistic insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee DSW,
|
||
Rojas OL,
|
||
Gommerman JL</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Drug Discov</span>
|
||
2021 Mar;20(3):179-199.
|
||
Epub 2020 Dec 15
|
||
doi: 10.1038/s41573-020-00092-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33324003" target="_blank">33324003</a><a href="/pmc/articles/PMC7737718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32188301">Biosimilars.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edwards CJ,
|
||
Bellinvia S</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2020 May;29(6):525-532.
|
||
Epub 2020 Mar 18
|
||
doi: 10.1177/0961203320910797.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32188301" target="_blank">32188301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30961418">Non-pharmacologic therapies for systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fangtham M,
|
||
Kasturi S,
|
||
Bannuru RR,
|
||
Nash JL,
|
||
Wang C</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2019 May;28(6):703-712.
|
||
Epub 2019 Apr 8
|
||
doi: 10.1177/0961203319841435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30961418" target="_blank">30961418</a><a href="/pmc/articles/PMC6585401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29224671">Systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furie R,
|
||
Cervera R</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2017 Jun;31(3):289-290.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1016/j.berh.2017.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29224671" target="_blank">29224671</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Systemic%20lupus%20erythematosus%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 (15389)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36241363">Global epidemiology of systemic lupus erythematosus: a comprehensive systematic analysis and modelling study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tian J,
|
||
Zhang D,
|
||
Yao X,
|
||
Huang Y,
|
||
Lu Q</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2023 Mar;82(3):351-356.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1136/ard-2022-223035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36241363" target="_blank">36241363</a><a href="/pmc/articles/PMC9933169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32991394">Cardiac Manifestations of Systemic Lupus Erythematous: An Overview of the Incidence, Risk Factors, Diagnostic Criteria, Pathophysiology and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zagelbaum Ward NK,
|
||
Linares-Koloffon C,
|
||
Posligua A,
|
||
Gandrabur L,
|
||
Kim WY,
|
||
Sperber K,
|
||
Wasserman A,
|
||
Ash J</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2022 Jan-Feb 01;30(1):38-43.
|
||
doi: 10.1097/CRD.0000000000000358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32991394" target="_blank">32991394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571142">Systemic lupus erythematosus, lupus nephritis and end-stage renal disease: a pragmatic review mapping disease severity and progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahajan A,
|
||
Amelio J,
|
||
Gairy K,
|
||
Kaur G,
|
||
Levy RA,
|
||
Roth D,
|
||
Bass D</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2020 Aug;29(9):1011-1020.
|
||
Epub 2020 Jun 22
|
||
doi: 10.1177/0961203320932219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571142" target="_blank">32571142</a><a href="/pmc/articles/PMC7425376" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26098843">Predictors of Pregnancy Outcomes in Patients With Lupus: A Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buyon JP,
|
||
Kim MY,
|
||
Guerra MM,
|
||
Laskin CA,
|
||
Petri M,
|
||
Lockshin MD,
|
||
Sammaritano L,
|
||
Branch DW,
|
||
Porter TF,
|
||
Sawitzke A,
|
||
Merrill JT,
|
||
Stephenson MD,
|
||
Cohn E,
|
||
Garabet L,
|
||
Salmon JE</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2015 Aug 4;163(3):153-63.
|
||
doi: 10.7326/M14-2235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26098843" target="_blank">26098843</a><a href="/pmc/articles/PMC5113288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11838846">Systemic lupus erythematosus disease activity index 2000.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gladman DD,
|
||
Ibañez D,
|
||
Urowitz MB</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2002 Feb;29(2):288-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11838846" target="_blank">11838846</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Systemic%20lupus%20erythematosus%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 (11399)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32571142">Systemic lupus erythematosus, lupus nephritis and end-stage renal disease: a pragmatic review mapping disease severity and progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahajan A,
|
||
Amelio J,
|
||
Gairy K,
|
||
Kaur G,
|
||
Levy RA,
|
||
Roth D,
|
||
Bass D</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2020 Aug;29(9):1011-1020.
|
||
Epub 2020 Jun 22
|
||
doi: 10.1177/0961203320932219.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32571142" target="_blank">32571142</a><a href="/pmc/articles/PMC7425376" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32095251">Finding lupus in the ANA haystack.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olsen NJ,
|
||
Karp DR</span><br />
|
||
<span class="medgenPMjournal">Lupus Sci Med</span>
|
||
2020;7(1):e000384.
|
||
Epub 2020 Feb 2
|
||
doi: 10.1136/lupus-2020-000384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32095251" target="_blank">32095251</a><a href="/pmc/articles/PMC7008709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30878436">Imaging Risk in Multisystem Inflammatory Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikonomidis I,
|
||
Makavos G,
|
||
Katsimbri P,
|
||
Boumpas DT,
|
||
Parissis J,
|
||
Iliodromitis E</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
|
||
2019 Dec;12(12):2517-2537.
|
||
Epub 2019 Mar 13
|
||
doi: 10.1016/j.jcmg.2018.06.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30878436" target="_blank">30878436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30354033">A Novel System to Categorize the Symptoms of Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pisetsky DS,
|
||
Clowse MEB,
|
||
Criscione-Schreiber LG,
|
||
Rogers JL</span><br />
|
||
<span class="medgenPMjournal">Arthritis Care Res (Hoboken)</span>
|
||
2019 Jun;71(6):735-741.
|
||
Epub 2019 Apr 23
|
||
doi: 10.1002/acr.23794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30354033" target="_blank">30354033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29459092">Revision of the International Society of Nephrology/Renal Pathology Society classification for lupus nephritis: clarification of definitions, and modified National Institutes of Health activity and chronicity indices.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bajema IM,
|
||
Wilhelmus S,
|
||
Alpers CE,
|
||
Bruijn JA,
|
||
Colvin RB,
|
||
Cook HT,
|
||
D'Agati VD,
|
||
Ferrario F,
|
||
Haas M,
|
||
Jennette JC,
|
||
Joh K,
|
||
Nast CC,
|
||
Noël LH,
|
||
Rijnink EC,
|
||
Roberts ISD,
|
||
Seshan SV,
|
||
Sethi S,
|
||
Fogo AB</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2018 Apr;93(4):789-796.
|
||
Epub 2018 Feb 16
|
||
doi: 10.1016/j.kint.2017.11.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29459092" target="_blank">29459092</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Systemic%20lupus%20erythematosus%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 (14676)</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36241363">Global epidemiology of systemic lupus erythematosus: a comprehensive systematic analysis and modelling study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tian J,
|
||
Zhang D,
|
||
Yao X,
|
||
Huang Y,
|
||
Lu Q</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2023 Mar;82(3):351-356.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1136/ard-2022-223035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36241363" target="_blank">36241363</a><a href="/pmc/articles/PMC9933169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35913558">Pregnancy in patients with systemic lupus erythematosus: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang S,
|
||
Han X,
|
||
Liu W,
|
||
Wen Q,
|
||
Wang J</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2023 Jul;308(1):63-71.
|
||
Epub 2022 Aug 1
|
||
doi: 10.1007/s00404-022-06718-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35913558" target="_blank">35913558</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36231212">Oral Manifestations of Systemic Lupus Erythematosus: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Ríos P,
|
||
Pecci-Lloret MP,
|
||
Oñate-Sánchez RE</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Sep 21;19(19)
|
||
doi: 10.3390/ijerph191911910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36231212" target="_blank">36231212</a><a href="/pmc/articles/PMC9565705" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36231195">Diet and Systemic Lupus Erythematosus (SLE): From Supplementation to Intervention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiao H,
|
||
Acar G,
|
||
Robinson GA,
|
||
Ciurtin C,
|
||
Jury EC,
|
||
Kalea AZ</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Sep 20;19(19)
|
||
doi: 10.3390/ijerph191911895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36231195" target="_blank">36231195</a><a href="/pmc/articles/PMC9565311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33631841">Belimumab for systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh JA,
|
||
Shah NP,
|
||
Mudano AS</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Feb 25;2(2):CD010668.
|
||
doi: 10.1002/14651858.CD010668.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33631841" target="_blank">33631841</a><a href="/pmc/articles/PMC8095005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Systemic%20lupus%20erythematosus%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 (817)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0024141%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024141%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024141%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024141%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (52)</a></li>
|
||
<li><a href="/gtr/tests?term=C0024141%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0024141%5bDISCUI%5d" target="_blank">See all (62)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=152700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=536" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Systemic%20lupus%20erythematosus" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22systemic%20lupus%20erythematosus%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(%22Systemic%20lupus%20erythematosus%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=123890%20125505%20146790%20600716%20604590%20606609" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1493[geneid]" target="_blank">View CTLA4 variations in ClinVar</a></li><li><a href="/clinvar/?term=1773[geneid]" target="_blank">View DNASE1 variations in ClinVar</a></li><li><a href="/clinvar/?term=2212[geneid]" target="_blank">View FCGR2A variations in ClinVar</a></li><li><a href="/clinvar/?term=2213[geneid]" target="_blank">View FCGR2B variations in ClinVar</a></li><li><a href="/clinvar/?term=11277[geneid]" target="_blank">View TREX1 variations in ClinVar</a></li><li><a href="/clinvar/?term=26191[geneid]" target="_blank">View PTPN22 variations in ClinVar</a></li><li><a href="/nuccore/219842200,223972664,224809225,224809308,237820681,300244503" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=152700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Systemic+lupus+erythematosus/9373" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/systemic_lupus_erythematosus" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Systemic%20lupus%20erythematosus" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18695/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Systemic%20lupus%20erythematosus" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Systemic%20lupus%20erythematosus%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=6146" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=6146" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0024141[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0024141[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=6146" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=6146" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=6146" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=6146" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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