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Entry
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- #612922 - HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
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- OMIM
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<p>
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<span class="h4">#612922</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/612922"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS235400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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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 class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HEMOLYTIC UREMIC SYNDROME, ATYPICAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=779&Typ=Pat" title="Atypical hemolytic uremic syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Atypical hemolytic uremic … </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=28081&Typ=Pat" title="Atypical hemolytic uremic syndrome with complement gene abnormality" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Atypical hemolytic uremic … </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1367/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7754" 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=612922[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2134" title="Atypical hemolytic uremic syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Atypical hemolytic uremic …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=544472" title="Atypical hemolytic uremic syndrome with complement gene abnormality" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Atypical hemolytic uremic …</a></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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<a id="title" class="mim-anchor"></a>
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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> 2134, 544472<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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612922
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</span>
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</span>
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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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HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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AHUS, SUSCEPTIBILITY TO, 2
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</h4>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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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>
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Phenotype <br /> MIM number
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</th>
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<th>
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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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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1659?start=-3&limit=10&highlight=1659">
|
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1q32.2
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</a>
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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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{Hemolytic uremic syndrome, atypical, susceptibility to, 2}
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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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<a href="/entry/612922"> 612922 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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MCP
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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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<a href="/entry/120920"> 120920 </a>
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</span>
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</td>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/612922" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS235400" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/612922" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/612922" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br /> -
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Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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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 class="h5 mim-font">
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<strong> CARDIOVASCULAR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Vascular </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hypertension (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280772</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
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</span>
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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 class="h5 mim-font">
|
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<strong> GENITOURINARY </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Kidneys </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Acute renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14669001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14669001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N17</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N17.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N17.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/584" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">584</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/584.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">584.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022660</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001919</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001919</a>]</span><br /> -
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|
Hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53298000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53298000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34436003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34436003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.7</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span><br /> -
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|
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
|
|
Anuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2472002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2472002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2188545&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2188545</a>, <a href="https://bioportal.bioontology.org/search?q=C0003460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100519</a>]</span><br />
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</span>
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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 class="h5 mim-font">
|
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<strong> HEMATOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
|
- Microangiopathic hemolytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373420004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373420004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51071000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51071000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D59.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D59.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1268935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1268935</a>, <a href="https://bioportal.bioontology.org/search?q=C0221021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001937</a>]</span><br /> -
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|
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
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Thrombotic microangiopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/126729006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">126729006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M31.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/446.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">446.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2717961&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2717961</a>]</span><br /> -
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Fragmented erythrocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552598</a>]</span><br /> -
|
|
Decreased hemoglobin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165397008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165397008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Defective complement regulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749606</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased blood urea nitrogen (BUN) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151539</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003138</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003138</a>]</span><br /> -
|
|
Increased creatinine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166717003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166717003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151578</a>, <a href="https://bioportal.bioontology.org/search?q=C0700225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span><br /> -
|
|
Normal or decreased serum C3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552597</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age of onset (childhood to adulthood)<br /> -
|
|
Recurrence is possible<br /> -
|
|
Overall course less severe compared to patients with CFH (<a href="/entry/134370">134370</a>) mutations<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Susceptibility conferred by mutation in the CD46 antigen gene (CD46, <a href="/entry/120920#0001">120920.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hemolytic uremic syndrome
|
|
- <a href="/phenotypicSeries/PS235400">PS235400</a>
|
|
- 11 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1528?start=-3&limit=10&highlight=1528"> 1q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235400"> {Hemolytic uremic syndrome, atypical, susceptibility to, 1} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235400"> 235400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134370"> CFH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134370"> 134370 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1529?start=-3&limit=10&highlight=1529"> 1q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235400"> {Hemolytic uremic syndrome, atypical, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235400"> 235400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605336"> CFHR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605336"> 605336 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1530?start=-3&limit=10&highlight=1530"> 1q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235400"> {Hemolytic uremic syndrome, atypical, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235400"> 235400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134371"> CFHR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134371"> 134371 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1659?start=-3&limit=10&highlight=1659"> 1q32.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612922"> {Hemolytic uremic syndrome, atypical, susceptibility to, 2} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612922"> 612922 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120920"> MCP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120920"> 120920 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/482?start=-3&limit=10&highlight=482"> 4q25 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612923"> {Hemolytic uremic syndrome, atypical, susceptibility to, 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612923"> 612923 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217030"> CFI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217030"> 217030 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/343?start=-3&limit=10&highlight=343"> 6p21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612924"> {Hemolytic uremic syndrome, atypical, susceptibility to, 4} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612924"> 612924 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138470"> CFB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138470"> 138470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/769?start=-3&limit=10&highlight=769"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615008"> Nephrotic syndrome, type 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615008"> 615008 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601440"> DGKE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601440"> 601440 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/769?start=-3&limit=10&highlight=769"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615008"> {Hemolytic uremic syndrome, atypical, susceptibility to, 7} </a>
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<p>A number sign (#) is used with this entry because susceptibility to the development of atypical hemolytic uremic syndrome-2 (AHUS2) can be conferred by variation in the gene encoding membrane cofactor protein (CD46, MCP; <a href="/entry/120920">120920</a>) on chromosome 1q32.</p><p>Some patients with aHUS may have mutations in multiple genes involved in the complement pathway (<a href="#2" class="mim-tip-reference" title="Esparza-Gordillo, J., de Jorge, E. G., Garrido, C. A., Carreras, L., Lopez-Trascasa, M., Sanchez-Corral, P., de Cordoba, S. R. <strong>Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.</strong> Molec. Immun. 43: 1769-1775, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16386793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16386793</a>] [<a href="https://doi.org/10.1016/j.molimm.2005.11.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16386793">Esparza-Gordillo et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16386793" 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>Atypical hemolytic uremic syndrome-2 (AHUS2) is clinically manifest as a combination of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment, in the absence of a triggering Shiga toxin-producing E. coli infection (<a href="#1" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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>For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (<a href="/entry/235400">235400</a>), which is caused by mutation in the CFH gene (<a href="/entry/134370">134370</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Pirson, Y., Lefebvre, C., Arnout, C., van Ypersele de Strihou, C. <strong>Hemolytic uremic syndrome in three adult siblings: a familial study and evolution.</strong> Clin. Nephrol. 28: 250-255, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3480783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3480783</a>]" pmid="3480783">Pirson et al. (1987)</a> described 3 Belgian brothers who developed atypical HUS at ages 27, 31, and 35 years. C3 levels at presentation were normal and there was no recovery of renal function. All 3 brothers had a cadaver kidney transplant, and all had a functioning graft with no recurrence of HUS 21 to 94 months later. Two sisters, aged 36 and 39 years old, did not develop HUS despite pregnancy and prolonged oral contraception. These brothers were subsequently studied by <a href="#7" class="mim-tip-reference" title="Warwicker, P., Goodship, T. H. J., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M., Turnpenny, P., Goodship, J. A. <strong>Genetic studies into inherited and sporadic hemolytic uremic syndrome.</strong> Kidney Int. 53: 836-844, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9551389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9551389</a>] [<a href="https://doi.org/10.1111/j.1523-1755.1998.00824.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9551389">Warwicker et al. (1998)</a> and <a href="#6" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a>. Since the original report, 1 of the brothers died from hepatic failure with portal hypertension of unknown etiology and another developed Waldenstrom macroglobulinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14566051+9551389+3480783" 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 comparison of 14 aHUS patients with MCP mutations and 42 with CFH mutations, <a href="#1" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> found that patients with MCP mutations had an overall better prognosis. Complete remission was observed in 85.7% of patients with MCP mutations compared to 17.5% of patients with CFH mutations. Only 1 patient with an MCP mutation developed end-stage renal failure and none died during the acute episode, whereas end-stage renal failure and death occurred in 22% and 30%, respectively, of patients with CFH mutations. Most (85%) of the patients with MCP mutations retained normal renal function compared to 22.5% of patients with CFH mutations. The onset of the disease was associated with an infectious event in all patients with MCP mutations, compared to 70% with CFH mutations. Treatment with plasma infusion did not result in better disease resolution in patients with MCP mutations, perhaps because MCP is a membrane-bound protein and plasma infusion or exchange would not correct the defect theoretically. Kidney transplantation in patients with MCP mutations resulted in better long-term graft survival and better clinical benefit compared to those with CFH mutations. C3 (<a href="/entry/120700">120700</a>) levels were decreased in 33.3% of patients with MCP mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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>In 2 related patients with a family history of aHUS, <a href="#4" class="mim-tip-reference" title="Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S., Remuzzi, G. <strong>Familial haemolytic uraemic syndrome and an MCP mutation.</strong> Lancet 362: 1542-1547, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14615110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14615110</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)14742-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14615110">Noris et al. (2003)</a> identified a heterozygous mutation in the MCP gene (<a href="/entry/120920#0001">120920.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14615110" 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 3 Belgian brothers with aHUS (<a href="#5" class="mim-tip-reference" title="Pirson, Y., Lefebvre, C., Arnout, C., van Ypersele de Strihou, C. <strong>Hemolytic uremic syndrome in three adult siblings: a familial study and evolution.</strong> Clin. Nephrol. 28: 250-255, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3480783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3480783</a>]" pmid="3480783">Pirson et al., 1987</a>), <a href="#6" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a> identified a heterozygous mutation in the MCP gene (<a href="/entry/120920#0002">120920.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14566051+3480783" 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><a href="#3" class="mim-tip-reference" title="Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S. <strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong> Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661753</a>] [<a href="https://doi.org/10.1093/hmg/ddi066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15661753">Esparza-Gordillo et al. (2005)</a> identified a specific SNP haplotype in the MCP gene that was overrepresented in aHUS patients and strongly associated with the severity of the disease. Linkage disequilibrium analysis suggested that the haplotype included the CR1 (<a href="/entry/120620">120620</a>), DAF (CD55; <a href="/entry/125240">125240</a>), and C4BPA (<a href="/entry/120830">120830</a>) genes. Two SNPs in the haplotype influenced the transcription activity of the MCP promoter in transient transfection experiments. The SNP haplotype block was particularly frequent among patients who carried mutations in CFH (<a href="/entry/134370">134370</a>), MCP, or CFI (<a href="/entry/217030">217030</a>). <a href="#3" class="mim-tip-reference" title="Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S. <strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong> Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661753</a>] [<a href="https://doi.org/10.1093/hmg/ddi066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15661753">Esparza-Gordillo et al. (2005)</a> suggested that complement regulatory molecules may act as a protein network, and that multiple mutations involving plasma- and membrane-associated complement regulatory proteins are necessary to impair protection of host tissues and to confer significant predisposition to aHUS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15661753" 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 affected members of 2 aHUS families, <a href="#6" class="mim-tip-reference" title="Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J. <strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong> Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2135497100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566051">Richards et al. (2003)</a> identified 2 different heterozygous mutations in the MCP gene: a 6-bp deletion (<a href="/entry/120920#0002">120920.0002</a>) and a ser206-to-pro substitution (S206P; <a href="/entry/120920#0003">120920.0003</a>). Affected members of a third family were homozygous for the S206P mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566051" 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><a href="#1" class="mim-tip-reference" title="Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G. <strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong> Blood 108: 1267-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2005-10-007252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16621965">Caprioli et al. (2006)</a> identified 14 mutations in the MCP gene (see, e.g., <a href="/entry/120920#0004">120920.0004</a>-<a href="/entry/120920#0006">120920.0006</a>) in 20 (12.8%) of 156 patients with atypical HUS. Three patients from 1 family were compound heterozygotes, 2 patients from 1 family carried a homozygous mutation, and the others were heterozygotes. Affected individuals from 2 families had mutations in both the MCP and CFH genes. Most (93%) MCP mutations clustered in the 4 SCRs at the N-terminal region of MCP, indicating the importance of this region for complement regulation. The mutations resulted in either reduced protein expression or impaired C3b binding capability. Analyses of available relatives revealed a decreased penetrance of 54%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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><a href="#2" class="mim-tip-reference" title="Esparza-Gordillo, J., de Jorge, E. G., Garrido, C. A., Carreras, L., Lopez-Trascasa, M., Sanchez-Corral, P., de Cordoba, S. R. <strong>Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.</strong> Molec. Immun. 43: 1769-1775, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16386793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16386793</a>] [<a href="https://doi.org/10.1016/j.molimm.2005.11.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16386793">Esparza-Gordillo et al. (2006)</a> reported a large Spanish pedigree with aHUS in which 2 affected members had 3 molecular risk factors: a mutation in the MCP gene that decreased MCP expression on the cell surface, a mutation in the CFI gene that resulted in premature termination, and a SNP haplotype of MCP that had been shown to decrease transcriptional activity. Family members with only 1 or 2 of these molecular defects did not develop the disease. The findings indicated an additive effect for mutations in the MCP and CFI genes and supported the notion that aHUS results from defective protection of cellular surfaces from complement activation. <a href="#2" class="mim-tip-reference" title="Esparza-Gordillo, J., de Jorge, E. G., Garrido, C. A., Carreras, L., Lopez-Trascasa, M., Sanchez-Corral, P., de Cordoba, S. R. <strong>Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.</strong> Molec. Immun. 43: 1769-1775, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16386793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16386793</a>] [<a href="https://doi.org/10.1016/j.molimm.2005.11.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16386793">Esparza-Gordillo et al. (2006)</a> also commented that the concurrence of multiple hits in complement regulatory proteins may be necessary to confer susceptibility to the disease. This would also explain the observed decreased penetrance of most mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16386793" 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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Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G.
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<strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong>
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Blood 108: 1267-1279, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16621965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16621965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16621965[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16621965" 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/10.1182/blood-2005-10-007252" target="_blank">Full Text</a>]
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Esparza-Gordillo, J., de Jorge, E. G., Garrido, C. A., Carreras, L., Lopez-Trascasa, M., Sanchez-Corral, P., de Cordoba, S. R.
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<strong>Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.</strong>
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Molec. Immun. 43: 1769-1775, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16386793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16386793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16386793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S.
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<strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong>
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Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15661753" 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/10.1093/hmg/ddi066" target="_blank">Full Text</a>]
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Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S., Remuzzi, G.
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<strong>Familial haemolytic uraemic syndrome and an MCP mutation.</strong>
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Lancet 362: 1542-1547, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14615110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14615110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14615110" 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/10.1016/S0140-6736(03)14742-3" target="_blank">Full Text</a>]
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<strong>Hemolytic uremic syndrome in three adult siblings: a familial study and evolution.</strong>
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Clin. Nephrol. 28: 250-255, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3480783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3480783</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3480783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J.
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<strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong>
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Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14566051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14566051" 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/10.1073/pnas.2135497100" target="_blank">Full Text</a>]
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Warwicker, P., Goodship, T. H. J., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M., Turnpenny, P., Goodship, J. A.
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<strong>Genetic studies into inherited and sporadic hemolytic uremic syndrome.</strong>
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Kidney Int. 53: 836-844, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9551389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9551389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9551389" 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/10.1111/j.1523-1755.1998.00824.x" target="_blank">Full Text</a>]
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alopez : 08/14/2024
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carol : 10/21/2016<br>carol : 09/12/2013<br>carol : 5/15/2012<br>ckniffin : 5/9/2012<br>carol : 4/30/2012<br>carol : 4/2/2012<br>terry : 3/27/2012<br>carol : 11/28/2011<br>carol : 7/31/2009<br>carol : 7/30/2009<br>ckniffin : 7/27/2009
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<strong>#</strong> 612922
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HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
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AHUS, SUSCEPTIBILITY TO, 2
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<strong>ORPHA:</strong> 2134, 544472;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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1q32.2
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{Hemolytic uremic syndrome, atypical, susceptibility to, 2}
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612922
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Autosomal dominant; Autosomal recessive
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<span class="mim-font">
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3
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MCP
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120920
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<p>A number sign (#) is used with this entry because susceptibility to the development of atypical hemolytic uremic syndrome-2 (AHUS2) can be conferred by variation in the gene encoding membrane cofactor protein (CD46, MCP; 120920) on chromosome 1q32.</p><p>Some patients with aHUS may have mutations in multiple genes involved in the complement pathway (Esparza-Gordillo et al., 2006). </p>
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<strong>Description</strong>
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<p>Atypical hemolytic uremic syndrome-2 (AHUS2) is clinically manifest as a combination of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment, in the absence of a triggering Shiga toxin-producing E. coli infection (Caprioli et al., 2006). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400), which is caused by mutation in the CFH gene (134370).</p>
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<p>Pirson et al. (1987) described 3 Belgian brothers who developed atypical HUS at ages 27, 31, and 35 years. C3 levels at presentation were normal and there was no recovery of renal function. All 3 brothers had a cadaver kidney transplant, and all had a functioning graft with no recurrence of HUS 21 to 94 months later. Two sisters, aged 36 and 39 years old, did not develop HUS despite pregnancy and prolonged oral contraception. These brothers were subsequently studied by Warwicker et al. (1998) and Richards et al. (2003). Since the original report, 1 of the brothers died from hepatic failure with portal hypertension of unknown etiology and another developed Waldenstrom macroglobulinemia. </p><p>In a comparison of 14 aHUS patients with MCP mutations and 42 with CFH mutations, Caprioli et al. (2006) found that patients with MCP mutations had an overall better prognosis. Complete remission was observed in 85.7% of patients with MCP mutations compared to 17.5% of patients with CFH mutations. Only 1 patient with an MCP mutation developed end-stage renal failure and none died during the acute episode, whereas end-stage renal failure and death occurred in 22% and 30%, respectively, of patients with CFH mutations. Most (85%) of the patients with MCP mutations retained normal renal function compared to 22.5% of patients with CFH mutations. The onset of the disease was associated with an infectious event in all patients with MCP mutations, compared to 70% with CFH mutations. Treatment with plasma infusion did not result in better disease resolution in patients with MCP mutations, perhaps because MCP is a membrane-bound protein and plasma infusion or exchange would not correct the defect theoretically. Kidney transplantation in patients with MCP mutations resulted in better long-term graft survival and better clinical benefit compared to those with CFH mutations. C3 (120700) levels were decreased in 33.3% of patients with MCP mutations. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 related patients with a family history of aHUS, Noris et al. (2003) identified a heterozygous mutation in the MCP gene (120920.0001). </p><p>In 3 Belgian brothers with aHUS (Pirson et al., 1987), Richards et al. (2003) identified a heterozygous mutation in the MCP gene (120920.0002). </p><p>Esparza-Gordillo et al. (2005) identified a specific SNP haplotype in the MCP gene that was overrepresented in aHUS patients and strongly associated with the severity of the disease. Linkage disequilibrium analysis suggested that the haplotype included the CR1 (120620), DAF (CD55; 125240), and C4BPA (120830) genes. Two SNPs in the haplotype influenced the transcription activity of the MCP promoter in transient transfection experiments. The SNP haplotype block was particularly frequent among patients who carried mutations in CFH (134370), MCP, or CFI (217030). Esparza-Gordillo et al. (2005) suggested that complement regulatory molecules may act as a protein network, and that multiple mutations involving plasma- and membrane-associated complement regulatory proteins are necessary to impair protection of host tissues and to confer significant predisposition to aHUS. </p><p>In affected members of 2 aHUS families, Richards et al. (2003) identified 2 different heterozygous mutations in the MCP gene: a 6-bp deletion (120920.0002) and a ser206-to-pro substitution (S206P; 120920.0003). Affected members of a third family were homozygous for the S206P mutation. </p><p>Caprioli et al. (2006) identified 14 mutations in the MCP gene (see, e.g., 120920.0004-120920.0006) in 20 (12.8%) of 156 patients with atypical HUS. Three patients from 1 family were compound heterozygotes, 2 patients from 1 family carried a homozygous mutation, and the others were heterozygotes. Affected individuals from 2 families had mutations in both the MCP and CFH genes. Most (93%) MCP mutations clustered in the 4 SCRs at the N-terminal region of MCP, indicating the importance of this region for complement regulation. The mutations resulted in either reduced protein expression or impaired C3b binding capability. Analyses of available relatives revealed a decreased penetrance of 54%. </p><p>Esparza-Gordillo et al. (2006) reported a large Spanish pedigree with aHUS in which 2 affected members had 3 molecular risk factors: a mutation in the MCP gene that decreased MCP expression on the cell surface, a mutation in the CFI gene that resulted in premature termination, and a SNP haplotype of MCP that had been shown to decrease transcriptional activity. Family members with only 1 or 2 of these molecular defects did not develop the disease. The findings indicated an additive effect for mutations in the MCP and CFI genes and supported the notion that aHUS results from defective protection of cellular surfaces from complement activation. Esparza-Gordillo et al. (2006) also commented that the concurrence of multiple hits in complement regulatory proteins may be necessary to confer susceptibility to the disease. This would also explain the observed decreased penetrance of most mutations. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., Porrati, F., Bucchioni, S., Monteferrante, F., Fang, C. J., Liszewski, M. K., Kavanagh, D., Atkinson, J. P., Remuzzi, G.
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<strong>Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.</strong>
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Blood 108: 1267-1279, 2006.
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[PubMed: 16621965]
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[Full Text: https://doi.org/10.1182/blood-2005-10-007252]
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Esparza-Gordillo, J., de Jorge, E. G., Garrido, C. A., Carreras, L., Lopez-Trascasa, M., Sanchez-Corral, P., de Cordoba, S. R.
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<strong>Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.</strong>
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Molec. Immun. 43: 1769-1775, 2006.
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[PubMed: 16386793]
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[Full Text: https://doi.org/10.1016/j.molimm.2005.11.008]
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Esparza-Gordillo, J., Goicoechea de Jorge, E., Buil, A., Berges, L. C., Lopez-Trascasa, M., Sanchez-Corral, P., Rodriguez de Cordoba, S.
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<strong>Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.</strong>
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Hum. Molec. Genet. 14: 703-712, 2005. Note: Erratum: Hum. Molec. Genet. 14: 1107 only, 2005.
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[PubMed: 15661753]
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[Full Text: https://doi.org/10.1093/hmg/ddi066]
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Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S., Remuzzi, G.
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<strong>Familial haemolytic uraemic syndrome and an MCP mutation.</strong>
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Lancet 362: 1542-1547, 2003.
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[PubMed: 14615110]
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[Full Text: https://doi.org/10.1016/S0140-6736(03)14742-3]
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Pirson, Y., Lefebvre, C., Arnout, C., van Ypersele de Strihou, C.
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<strong>Hemolytic uremic syndrome in three adult siblings: a familial study and evolution.</strong>
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Clin. Nephrol. 28: 250-255, 1987.
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[PubMed: 3480783]
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Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y., Wen, L. S., Atkinson, J. P., Goodship, T. H. J.
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<strong>Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.</strong>
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Proc. Nat. Acad. Sci. 100: 12966-12971, 2003.
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[PubMed: 14566051]
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[Full Text: https://doi.org/10.1073/pnas.2135497100]
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Warwicker, P., Goodship, T. H. J., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M., Turnpenny, P., Goodship, J. A.
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<strong>Genetic studies into inherited and sporadic hemolytic uremic syndrome.</strong>
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Kidney Int. 53: 836-844, 1998.
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[PubMed: 9551389]
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[Full Text: https://doi.org/10.1111/j.1523-1755.1998.00824.x]
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Cassandra L. Kniffin : 7/23/2009
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/14/2024<br>carol : 10/21/2016<br>carol : 09/12/2013<br>carol : 5/15/2012<br>ckniffin : 5/9/2012<br>carol : 4/30/2012<br>carol : 4/2/2012<br>terry : 3/27/2012<br>carol : 11/28/2011<br>carol : 7/31/2009<br>carol : 7/30/2009<br>ckniffin : 7/27/2009
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Printed: March 5, 2025
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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