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<title>
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Entry
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- #613783 - COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD
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- OMIM
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</nav>
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</form>
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<p />
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</div>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">#613783</span>
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<br />
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<strong>Table of Contents</strong>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(COMPLEMENT COMPONENT C1s DEFICIENCY) OR (C1S)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17827&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8032" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613783[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169147" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 169147<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
613783
|
|
</span>
|
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</span>
|
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD
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</span>
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
C1s DEFICIENCY
|
|
</span>
|
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</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
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Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/89?start=-3&limit=10&highlight=89">
|
|
12p13.31
|
|
</a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
C1s deficiency
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613783"> 613783 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
C1S
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120580"> 120580 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/613783" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613783" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
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<p>A number sign (#) is used with this entry because of evidence that selective complement component C1s deficiency (C1SD) is caused by homozygous mutation in the C1S gene (<a href="/entry/120580">120580</a>) on chromosome 12p13.</p>
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<p>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 (<a href="#2" class="mim-tip-reference" title="Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H. <strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong> Hum. Genet. 103: 415-418, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>] [<a href="https://doi.org/10.1007/s004390050843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856483">Inoue et al., 1998</a>, <a href="#1" class="mim-tip-reference" title="Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H. <strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong> J. Immun. 166: 7612-7616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>] [<a href="https://doi.org/10.4049/jimmunol.166.12.7612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390518">Dragon-Durey et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11390518+9856483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H. <strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong> Hum. Genet. 103: 415-418, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>] [<a href="https://doi.org/10.1007/s004390050843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856483">Inoue et al. (1998)</a> reported a patient with a systemic lupus erythematosus-like syndrome and chronic glomerulonephritis in whom no C1s protein was detectable by immunoblot. By Northern blot and RT-PCR analysis, C1s mRNA was of appropriate size, but only 10% of the level detected in HCS2/8, a human chondrosarcoma cell line. Levels of beta-actin and C1r (<a href="/entry/216950">216950</a>) mRNA were similar to levels detected in HCS2/8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-month-old girl with multiple autoimmune diseases, <a href="#1" class="mim-tip-reference" title="Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H. <strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong> J. Immun. 166: 7612-7616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>] [<a href="https://doi.org/10.4049/jimmunol.166.12.7612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390518">Dragon-Durey et al. (2001)</a> determined that an absence of plasma C1S accounted for a lack of classic complement (CH50) pathway activity. At age 5, the child was alive and well while receiving immunosuppressive drugs daily and penicillin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H. <strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong> Hum. Genet. 103: 415-418, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>] [<a href="https://doi.org/10.1007/s004390050843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856483">Inoue et al. (1998)</a> reported a patient with selective C1s deficiency resulting from a homozygous mutation in the C1S gene (<a href="/entry/120580#0001">120580.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-month-old girl with multiple autoimmune diseases, <a href="#1" class="mim-tip-reference" title="Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H. <strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong> J. Immun. 166: 7612-7616, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>] [<a href="https://doi.org/10.4049/jimmunol.166.12.7612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390518">Dragon-Durey et al. (2001)</a> detected selective C1S deficiency resulting from a nonsense mutation in exon 12 of the C1S gene (<a href="/entry/120580#0002">120580.0002</a>). Restriction enzyme analysis showed that the propositus was homozygous for the mutation, while a paternal grandmother, maternal grandfather, and aunts on both sides of the family were heterozygous. The mutation was not detected in systemic lupus erythematosus (<a href="/entry/152700">152700</a>) patients or unrelated Caucasian controls, including some from the same geographic region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H.
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<strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong>
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J. Immun. 166: 7612-7616, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.4049/jimmunol.166.12.7612" target="_blank">Full Text</a>]
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Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H.
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<strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong>
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Hum. Genet. 103: 415-418, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Carol A. Bocchini : 3/1/2011
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alopez : 11/27/2024
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carol : 04/22/2011<br>carol : 3/1/2011
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COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that selective complement component C1s deficiency (C1SD) is caused by homozygous mutation in the C1S gene (120580) on chromosome 12p13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>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). </p>
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<strong>Clinical Features</strong>
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<p>Inoue et al. (1998) reported a patient with a systemic lupus erythematosus-like syndrome and chronic glomerulonephritis in whom no C1s protein was detectable by immunoblot. By Northern blot and RT-PCR analysis, C1s mRNA was of appropriate size, but only 10% of the level detected in HCS2/8, a human chondrosarcoma cell line. Levels of beta-actin and C1r (216950) mRNA were similar to levels detected in HCS2/8. </p><p>In a 27-month-old girl with multiple autoimmune diseases, Dragon-Durey et al. (2001) determined that an absence of plasma C1S accounted for a lack of classic complement (CH50) pathway activity. At age 5, the child was alive and well while receiving immunosuppressive drugs daily and penicillin. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Inoue et al. (1998) reported a patient with selective C1s deficiency resulting from a homozygous mutation in the C1S gene (120580.0001). </p><p>In a 27-month-old girl with multiple autoimmune diseases, Dragon-Durey et al. (2001) detected selective C1S deficiency resulting from a nonsense mutation in exon 12 of the C1S gene (120580.0002). Restriction enzyme analysis showed that the propositus was homozygous for the mutation, while a paternal grandmother, maternal grandfather, and aunts on both sides of the family were heterozygous. The mutation was not detected in systemic lupus erythematosus (152700) patients or unrelated Caucasian controls, including some from the same geographic region. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<li>
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<p class="mim-text-font">
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Dragon-Durey, M.-A., Quartier, P., Fremeaux-Bacchi, V., Blouin, J., de Barace, C., Prieur, A.-M., Weiss, L., Fridman, W.-H.
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<strong>Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.</strong>
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J. Immun. 166: 7612-7616, 2001.
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[PubMed: 11390518]
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[Full Text: https://doi.org/10.4049/jimmunol.166.12.7612]
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<li>
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<p class="mim-text-font">
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Inoue, N., Saito, T., Masuda, R., Suzuki, Y., Ohtomi, M., Sakiyama, H.
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<strong>Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.</strong>
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Hum. Genet. 103: 415-418, 1998.
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[PubMed: 9856483]
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[Full Text: https://doi.org/10.1007/s004390050843]
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Creation Date:
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<span class="mim-text-font">
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Carol A. Bocchini : 3/1/2011
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alopez : 11/27/2024<br>carol : 04/22/2011<br>carol : 3/1/2011
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