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<meta name="keywords" content="C3150275, c2, c2 complement deficiency, c2 deficiency, c2d, complement component 2 deficiency, complement component c2 deficiency, complement deficiency caused by mutation in c2, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=461625
|
||
ConceptID=C3150275
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Complement component 2 deficiency<span class="h1sub">(C2D)</span></div></h1><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."><span class="highlight" style="background-color:">C3150275</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>C2 deficiency; C2D; Complement Component C2 Deficiency</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="C2 - ID: 717 - NCBI Gene" href="/gene/717" class="medgenPMinfo">C2</a> (6p21.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009006" target="_blank">MONDO:0009006</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/217000" target="_blank">217000</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">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">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). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood.<br /><br />Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as systemic lupus erythematosus (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population.<br /><br />The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder. <a target="_blank" href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency">https://medlineplus.gov/genetics/condition/complement-component-2-deficiency</a></div></div>
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<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.">C0024141</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_19584"><div><strong>Purpura</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19584</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.">C0034150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Purpura (from Latin</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19584">Feature record</a> | <a href="/medgen?term=%22Purpura%22%5BClinical%20Features%5D%20OR%2019584%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 the immune system</span><ul><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_19584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purpura</a></span></li></ul></li></ul></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150275[DISCUI]&test_type=Clinical" ref="ncbi_uid=461625">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=461625" target="_blank" href="/omim/217000">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=461625" ref="ncbi_uid=461625">V</a></span></span><span class="TLline">Complement component 2 deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/461860" ref="tree=MeSH" title="MedGen record for Abnormality of humoral immunity">Abnormality of humoral immunity</a></span><ul><li><span class="TLline"><a href="/medgen/870756" ref="tree=MeSH" title="MedGen record for Abnormality of complement system">Abnormality of complement system</a></span><ul><li><span class="TLline"><a href="/medgen/82898" ref="tree=MeSH" title="MedGen record for Reduced circulating complement concentration">Reduced circulating complement concentration</a></span><ul><li><span class="matched_ds">Complement component 2 deficiency</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25663093">Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turley AJ,
|
||
Gathmann B,
|
||
Bangs C,
|
||
Bradbury M,
|
||
Seneviratne S,
|
||
Gonzalez-Granado LI,
|
||
Hackett S,
|
||
Kutukculer N,
|
||
Alachkar H,
|
||
Hambleton S,
|
||
Ritterbusch H,
|
||
Kralickova P,
|
||
Marodi L,
|
||
Seidel MG,
|
||
Dueckers G,
|
||
Roesler J,
|
||
Huissoon A,
|
||
Baxendale H,
|
||
Litzman J,
|
||
Arkwright PD</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2015 Feb;35(2):199-205.
|
||
Epub 2015 Feb 8
|
||
doi: 10.1007/s10875-015-0137-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25663093" target="_blank">25663093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24787488">Complement deficiencies limit CD20 monoclonal antibody treatment efficacy in CLL.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Middleton O,
|
||
Cosimo E,
|
||
Dobbin E,
|
||
McCaig AM,
|
||
Clarke C,
|
||
Brant AM,
|
||
Leach MT,
|
||
Michie AM,
|
||
Wheadon H</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2015 Jan;29(1):107-14.
|
||
Epub 2014 May 2
|
||
doi: 10.1038/leu.2014.146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24787488" target="_blank">24787488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7444430">Hereditary angio-oedema: its pathogenesis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballogh Z,
|
||
Whaley K</span><br />
|
||
<span class="medgenPMjournal">Scott Med J</span>
|
||
1980 Jul;25(3):187-95.
|
||
doi: 10.1177/003693308002500303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7444430" target="_blank">7444430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(complement%20component%202%20deficiency)%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 (7)</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/25124395">Supraglottitis due to group B streptococcus in an adult with IgG4 and C2 deficiency: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagaraja V,
|
||
Stewart TE,
|
||
Mackay SG,
|
||
Glenn DW,
|
||
Wakefield D,
|
||
Boutlis CS</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2015 Apr;125(4):852-5.
|
||
Epub 2014 Aug 14
|
||
doi: 10.1002/lary.24874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25124395" target="_blank">25124395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9848020">Complement deficiency and autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan KE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
1998 Dec;10(6):600-6.
|
||
doi: 10.1097/00008480-199810060-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9848020" target="_blank">9848020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2524348">Drug-induced immune-complex disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sim E</span><br />
|
||
<span class="medgenPMjournal">Complement Inflamm</span>
|
||
1989;6(2):119-26.
|
||
doi: 10.1159/000463084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2524348" target="_blank">2524348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6415350">Systemic lupus erythematosus epidemiology and genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hochberg MC,
|
||
Arnett FC</span><br />
|
||
<span class="medgenPMjournal">Md State Med J</span>
|
||
1983 Jul;32(7):524-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6415350" target="_blank">6415350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/952750">Complement component profiles in urticaria, dermatitis herpetiformis, and alopecia areata.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berrens L,
|
||
Jankowski E,
|
||
Jankowski-Berntsen I</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
1976 Aug;95(2):145-52.
|
||
doi: 10.1111/j.1365-2133.1976.tb00817.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/952750" target="_blank">952750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complement%20component%202%20deficiency%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 (97)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39294906">Immunodeficiency: Complement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMurray JC,
|
||
Schornack BJ,
|
||
Weskamp AL,
|
||
Park KJ,
|
||
Pollock JD,
|
||
Day WG,
|
||
Brockshus AT,
|
||
Beakes DE,
|
||
Schwartz DJ,
|
||
Mikita CP,
|
||
Pittman LM</span><br />
|
||
<span class="medgenPMjournal">Allergy Asthma Proc</span>
|
||
2024 Sep 1;45(5):305-309.
|
||
doi: 10.2500/aap.2024.45.240050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39294906" target="_blank">39294906</a><a href="/pmc/articles/PMC11441536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19922730">Hypocomplementemic urticarial vasculitis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jara LJ,
|
||
Navarro C,
|
||
Medina G,
|
||
Vera-Lastra O,
|
||
Saavedra MA</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2009 Dec;11(6):410-5.
|
||
doi: 10.1007/s11926-009-0060-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19922730" target="_blank">19922730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2524348">Drug-induced immune-complex disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sim E</span><br />
|
||
<span class="medgenPMjournal">Complement Inflamm</span>
|
||
1989;6(2):119-26.
|
||
doi: 10.1159/000463084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2524348" target="_blank">2524348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2868818">Angioedema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farnam J,
|
||
Grant JA</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
1985 Jan;3(1):85-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2868818" target="_blank">2868818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6749392">ANA-negative SLE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddison PJ</span><br />
|
||
<span class="medgenPMjournal">Clin Rheum Dis</span>
|
||
1982 Apr;8(1):105-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6749392" target="_blank">6749392</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complement%20component%202%20deficiency%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 (105)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24925394">Bradykinin-mediated diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan AP</span><br />
|
||
<span class="medgenPMjournal">Chem Immunol Allergy</span>
|
||
2014;100:140-7.
|
||
Epub 2014 May 22
|
||
doi: 10.1159/000358619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24925394" target="_blank">24925394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2524348">Drug-induced immune-complex disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sim E</span><br />
|
||
<span class="medgenPMjournal">Complement Inflamm</span>
|
||
1989;6(2):119-26.
|
||
doi: 10.1159/000463084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2524348" target="_blank">2524348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2868818">Angioedema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farnam J,
|
||
Grant JA</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
1985 Jan;3(1):85-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2868818" target="_blank">2868818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6288318">Inherited complement deficiency states and SLE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rynes RI</span><br />
|
||
<span class="medgenPMjournal">Clin Rheum Dis</span>
|
||
1982 Apr;8(1):29-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6288318" target="_blank">6288318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7444430">Hereditary angio-oedema: its pathogenesis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballogh Z,
|
||
Whaley K</span><br />
|
||
<span class="medgenPMjournal">Scott Med J</span>
|
||
1980 Jul;25(3):187-95.
|
||
doi: 10.1177/003693308002500303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7444430" target="_blank">7444430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complement%20component%202%20deficiency%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 (57)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38951460">Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oprea Y,
|
||
Antohi DR,
|
||
Vague M,
|
||
Delbourgo Patton C,
|
||
Wu B,
|
||
Ortega-Loayza AG</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2024 Sep;25(5):701-716.
|
||
Epub 2024 Jul 1
|
||
doi: 10.1007/s40257-024-00875-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38951460" target="_blank">38951460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26563161">Early Complement Component Deficiency in a Single-Centre Cohort of Pediatric Onset Lupus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhattad S,
|
||
Rawat A,
|
||
Gupta A,
|
||
Suri D,
|
||
Garg R,
|
||
de Boer M,
|
||
Kuijpers TW,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2015 Nov;35(8):777-85.
|
||
Epub 2015 Nov 13
|
||
doi: 10.1007/s10875-015-0212-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26563161" target="_blank">26563161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25124395">Supraglottitis due to group B streptococcus in an adult with IgG4 and C2 deficiency: a case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagaraja V,
|
||
Stewart TE,
|
||
Mackay SG,
|
||
Glenn DW,
|
||
Wakefield D,
|
||
Boutlis CS</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2015 Apr;125(4):852-5.
|
||
Epub 2014 Aug 14
|
||
doi: 10.1002/lary.24874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25124395" target="_blank">25124395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7892812">Type II hereditary angioedema: presentation and follow-up of three cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arias J,
|
||
Moral A,
|
||
García MA,
|
||
Fernández-Rivas M,
|
||
Abengózar R,
|
||
Panadero P,
|
||
Senent C</span><br />
|
||
<span class="medgenPMjournal">Allergol Immunopathol (Madr)</span>
|
||
1994 Nov-Dec;22(6):244-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7892812" target="_blank">7892812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3892188">The hereditary and acquired deficiencies of complement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nusinow SR,
|
||
Zuraw BL,
|
||
Curd JG</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1985 May;69(3):487-504.
|
||
doi: 10.1016/s0025-7125(16)31028-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3892188" target="_blank">3892188</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complement%20component%202%20deficiency%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 (27)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38176523">Usefulness and analytical performances of complement multiplex assay for measuring complement biomarkers in plasma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meuleman MS,
|
||
Duval A,
|
||
Grunenwald A,
|
||
Rezola Artero M,
|
||
Dermani M,
|
||
Peliconi J,
|
||
Revel M,
|
||
Vieira-Martins P,
|
||
Courbebaisse M,
|
||
Parfait B,
|
||
Lebeaux D,
|
||
Friedlander G,
|
||
Roumenina L,
|
||
Chauvet S,
|
||
Frémeaux-Bacchi V,
|
||
Dragon-Durey MA</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2024 Feb 1;554:117750.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1016/j.cca.2023.117750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38176523" target="_blank">38176523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6698602">Activation of human complement by the pneumococcal toxin pneumolysin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paton JC,
|
||
Rowan-Kelly B,
|
||
Ferrante A</span><br />
|
||
<span class="medgenPMjournal">Infect Immun</span>
|
||
1984 Mar;43(3):1085-7.
|
||
doi: 10.1128/iai.43.3.1085-1087.1984.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6698602" target="_blank">6698602</a><a href="/pmc/articles/PMC264298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6490109">Partial C4 deficiency in subacute sclerosing panencephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rittner C,
|
||
Meier EM,
|
||
Stradmann B,
|
||
Giles CM,
|
||
Köchling R,
|
||
Mollenhauer E,
|
||
Kreth HW</span><br />
|
||
<span class="medgenPMjournal">Immunogenetics</span>
|
||
1984;20(4):407-15.
|
||
doi: 10.1007/BF00345615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6490109" target="_blank">6490109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6213029">Intestinal glycoprotein activates the alternative complement pathway by reacting with factor H.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winsnes R,
|
||
Lachmann PJ</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
1982 Apr;15(4):371-8.
|
||
doi: 10.1111/j.1365-3083.1982.tb00661.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6213029" target="_blank">6213029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6018771">Hereditary deficiency of the second component of complement (C'2) in man: further observations on a second kindred.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klemperer MR,
|
||
Austen KF,
|
||
Rosen FS</span><br />
|
||
<span class="medgenPMjournal">J Immunol</span>
|
||
1967 Jan;98(1):72-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6018771" target="_blank">6018771</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complement%20component%202%20deficiency%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 (102)</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/38951460">Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oprea Y,
|
||
Antohi DR,
|
||
Vague M,
|
||
Delbourgo Patton C,
|
||
Wu B,
|
||
Ortega-Loayza AG</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2024 Sep;25(5):701-716.
|
||
Epub 2024 Jul 1
|
||
doi: 10.1007/s40257-024-00875-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38951460" target="_blank">38951460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Complement%20component%202%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</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>
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</div>
|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150275%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150275%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150275%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150275%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
||
</ul></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=217000" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Complement%20component%202%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(complement%20component%202%20deficiency)%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(%22Complement%20component%202%20deficiency%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
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</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=613927" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=717[geneid]" target="_blank">View C2 variations in ClinVar</a></li><li><a href="/nuccore/225903390" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=217000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<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/Complement+Component+2+Deficiency/1755" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/complement_component_2_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Complement%20component%202%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1452/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>
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||
</div>
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||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Complement%20component%202%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Complement%20component%202%20deficiency%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>
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=461625" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=461625" ref="log$=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=C3150275[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3150275[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=461625" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=461625" ref="log$=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=461625" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=461625" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=461625" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Recent activity</h3>
|
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
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||
</div>
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||
</div>
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||
</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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</div>
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</div>
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|
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