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Entry
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- #609814 - COMPLEMENT FACTOR H DEFICIENCY; CFHD
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- OMIM
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<p>
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<span class="h4">#609814</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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<a href="/clinicalSynopsis/609814"><strong>Clinical Synopsis</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="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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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 style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=COMPLEMENT FACTOR H DEFICIENCY" 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=18422&Typ=Pat" title="Immunodeficiency with factor H anomaly" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Immunodeficiency with fact… </a></div><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=21947&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">C3 glomerulopathy </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10755&Typ=Pat" title="Primary membranoproliferative glomerulonephritis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Primary membranoproliferat… </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><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12413&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dense deposit disease </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1425/" 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/8366" 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=609814[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=200421" title="Immunodeficiency with factor H anomaly" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Immunodeficiency with fact…</a></div><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=329918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">C3 glomerulopathy</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54370" title="Primary membranoproliferative glomerulonephritis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Primary membranoproliferat…</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><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dense deposit disease</a></div>
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div><a href="https://omia.org/OMIA000636/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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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="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 234622003<br />
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<strong>ORPHA:</strong> 200421, 2134, 329918, 54370, 544472, 93571<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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609814
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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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COMPLEMENT FACTOR H DEFICIENCY; CFHD
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<h4>
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<span class="mim-font">
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C3 GLOMERULOPATHY 1; C3G1<br />
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FACTOR H DEFICIENCY<br />
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CFH DEFICIENCY
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1528?start=-3&limit=10&highlight=1528">
|
|
1q31.3
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Complement factor H deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609814"> 609814 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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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|
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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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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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CFH
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134370"> 134370 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/609814" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
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|
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|
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|
|
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|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609814" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609814" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
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|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Progressive renal failure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0748318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0748318</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span><br /> -
|
|
Membranoproliferative glomerulonephritis type II <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722760002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722760002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004746</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004746</a>]</span><br /> -
|
|
Thickening of the glomerular basement membrane on renal biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969217</a>]</span><br /> -
|
|
Deposition of complement component C3 in glomerular basement membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969218</a>]</span><br /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Continuous activation of the alternative complement pathway <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969219</a>]</span><br /> -
|
|
Hypocomplementemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853888</a>]</span><br /> -
|
|
Depletion of components of the alternative complement pathway <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969220</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005389</a>]</span><br /> -
|
|
Increased susceptibility to certain bacterial infections, especially Neisseria meningitidis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969221</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">
|
|
|
|
- Decreased serum complement factor H <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969222</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005369</a>]</span><br /> -
|
|
Normal levels of complement factor H, but impaired function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969223</a>]</span><br /> -
|
|
Hypocomplementemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853888</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">
|
|
|
|
- Onset in infancy or childhood<br /> -
|
|
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Some patients may be asymptomatic<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">
|
|
|
|
- Caused by mutation in the complement factor H gene (CFH, <a href="/entry/134370#0002">134370.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<p>A number sign (#) is used with this entry because of evidence that complement factor H deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding complement factor H (CFH; <a href="/entry/134370">134370</a>) on chromosome 1q31. Heterozygous mutation carriers may show milder manifestations.</p><p>Mutation in the CFH gene can also cause increased susceptibility to atypical hemolytic-uremic syndrome (AHUS1; <a href="/entry/235400">235400</a>).</p>
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<p>Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 (<a href="/entry/120700">120700</a>) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by <a href="#4" class="mim-tip-reference" title="Ault, B. H. <strong>Factor H and the pathogenesis of renal diseases.</strong> Pediat. Nephrol. 14: 1045-1053, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10975323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10975323</a>] [<a href="https://doi.org/10.1007/s004670050069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10975323">Ault, 2000</a>, reviews by <a href="#17" class="mim-tip-reference" title="Riedl, M., Thorner, P., Licht, C. <strong>C3 glomerulopathy.</strong> Pediat. Nephrol. 32: 43-57, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27056062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27056062</a>] [<a href="https://doi.org/10.1007/s00467-015-3310-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27056062">Riedl et al., 2017</a> and <a href="#22" class="mim-tip-reference" title="Wong, E. K. S., Kavanagh, D. <strong>Diseases of complement dysregulation--an overview.</strong> Semin. Immunopath. 40: 49-64, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29327071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29327071</a>] [<a href="https://doi.org/10.1007/s00281-017-0663-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29327071">Wong and Kavanagh, 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10975323+29327071+27056062" 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><strong><em>Nomenclature and Classification</em></strong></p><p>
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Several reviews (<a href="#10" class="mim-tip-reference" title="Ito, N., Ohashi, R., Nagata, M. <strong>C3 glomerulopathy and current dilemmas.</strong> Clin. Exp. Nephrol. 2017 Aug;21(4): 541-551, 2017. Note: Erratum: Clin. Exp. Nephrol. 21: 1142 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27878657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27878657</a>] [<a href="https://doi.org/10.1007/s10157-016-1358-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27878657">Ito et al., 2017</a>, <a href="#17" class="mim-tip-reference" title="Riedl, M., Thorner, P., Licht, C. <strong>C3 glomerulopathy.</strong> Pediat. Nephrol. 32: 43-57, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27056062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27056062</a>] [<a href="https://doi.org/10.1007/s00467-015-3310-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27056062">Riedl et al., 2017</a>, <a href="#22" class="mim-tip-reference" title="Wong, E. K. S., Kavanagh, D. <strong>Diseases of complement dysregulation--an overview.</strong> Semin. Immunopath. 40: 49-64, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29327071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29327071</a>] [<a href="https://doi.org/10.1007/s00281-017-0663-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29327071">Wong and Kavanagh, 2018</a>) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. <a href="#21" class="mim-tip-reference" title="Welch, T. R. <strong>Complement in glomerulonephritis.</strong> Nature Genet. 31: 333-334, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12091912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12091912</a>] [<a href="https://doi.org/10.1038/ng933" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12091912">Welch (2002)</a> also discussed the role of complement in renal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27878657+12091912+29327071+27056062" 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 subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by <a href="#1" class="mim-tip-reference" title="Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L. H., Sethi, S., McRae, J. L., Murphy, B. F., Silvestri, G., Skerka, C., Jozsi, M., Zipfel, P. F., Hageman, G. S., Smith, R. J. H. <strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong> J. Med. Genet. 43: 582-589, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16299065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16299065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16299065[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/10.1136/jmg.2005.038315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16299065">Abrera-Abeleda et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16299065" 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><strong><em>Genetic Heterogeneity of C3G</em></strong></p><p>
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C3G2 (<a href="/entry/610984">610984</a>) is caused by mutation in the CFI gene (<a href="/entry/217030">217030</a>) on chromosome 4q25, and C3G3 (<a href="/entry/614809">614809</a>) is caused by mutation in the CFHR5 gene (<a href="/entry/608593">608593</a>) on chromosome 1q31.</p>
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<p><a href="#23" class="mim-tip-reference" title="Wyatt, R. J., Julian, B. A., Weinstein, A., Rothfield, N. F., McLean, R. H. <strong>Partial H (beta-1H) deficiency and glomerulonephritis in two families.</strong> J. Clin. Immun. 2: 110-117, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6461667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6461667</a>] [<a href="https://doi.org/10.1007/BF00916894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6461667">Wyatt et al. (1982)</a> reported 2 families with partial factor H deficiency and glomerulonephritis. In 1 family, of Polish origin, a teenaged male had vasculitis, thrombocytopenia, proteinuria, and depressed levels of serum factor H and complement component C3. The mother, maternal uncle, and a cousin had depressed H levels. The second family was of English-Irish extraction living in Kentucky; 3 persons in 3 generations had H levels about half normal. The index case had depressed serum factors H and B levels and IgA nephropathy (<a href="/entry/161950">161950</a>) which progressed to renal failure. A sister also had IgA nephropathy and depressed serum H and C3 levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6461667" 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="#11" class="mim-tip-reference" title="Levy, M., Halbwachs-Mecarelli, L., Gubler, M.-C., Kohout, G., Bensenouci, A., Niaudet. P., Hauptmann, G., Lesavre, P. <strong>H deficiency in two brothers with atypical dense intramembranous deposit disease.</strong> Kidney Int. 30: 949-956, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2950269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2950269</a>] [<a href="https://doi.org/10.1038/ki.1986.278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2950269">Levy et al. (1986)</a> reported a consanguineous Algerian family in which 2 brothers had early-onset glomerulonephritis with C3 deposits and low levels (less than 10% of normal) of complement factor H. The factor H deficiency was defined by undetectable complement hemolytic activity by the classic (CH50) and alternate (AP50) pathways, and low levels of C3 and factor B (<a href="/entry/138470">138470</a>). The unaffected first-cousin parents and 2 healthy sibs, presumed heterozygotes, had half-normal H values. Renal disease was discovered at 14 and 4 months of age in the elder and younger brother, respectively. The elder had recurrent episodes of macroscopic hematuria occurring during the course of infections but did not seem to have an excessive number of infections; the younger had repeated upper and lower respiratory tract infections and nearly persistent macroscopic hematuria. Electron microscopy of renal biopsies from both patients were typical for intramembranous dense deposit disease, but immunofluorescence microscopy showed an atypical pattern with abundant granular C3 deposits within the mesangium and along the capillary walls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2950269" 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="#13" class="mim-tip-reference" title="Lopez-Larrea, C., Dieguez, M. A., Enguix, A., Dominguez, O., Marin, B., Gomez, E. <strong>A familial deficiency of complement factor H.</strong> Biochem. Soc. Trans. 15: 648-649, 1987."None>Lopez-Larrea et al. (1987)</a> studied a family in which 3 female sibs had undetectable levels of factor H and C3 nephritic factor, low levels of factor B, C3, and C5 (see <a href="/entry/120500">120500</a>), and normal levels of C4-binding protein (<a href="/entry/120830">120830</a>), factor I (<a href="/entry/217030">217030</a>), and classic pathway factors. C4 (see <a href="/entry/120810">120810</a>) levels were low in 1 patient. Two of the sibs had Neisseria meningitidis sepsis; all 3 developed membranoproliferative glomerulonephritis.</p><p><a href="#5" class="mim-tip-reference" title="Brai, M., Misiano, G., Maringhini, S., Cutaja, I., Hauptmann, G. <strong>Combined homozygous factor H and heterozygous C2 deficiency in an Italian family.</strong> J. Clin. Immun. 8: 50-56, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2966809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2966809</a>] [<a href="https://doi.org/10.1007/BF00915156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2966809">Brai et al. (1988)</a> and <a href="#14" class="mim-tip-reference" title="Misiano, G., Soames, C. J., Fontaine, M., Accardo, P., Sim, R. B., Brai, M. <strong>Expression of H-related gene products in a factor H deficient family. (Abstract)</strong> Molec. Immun. 30 (suppl. 1): 33 only, 1993."None>Misiano et al. (1993)</a> described a consanguineous Italian family in which 3 sibs had deficiency of factor H and its spliced isoform FHL1. The proband had systemic lupus erythematosus (<a href="/entry/152700">152700</a>) with chronic renal failure, reduced C3 serum levels, and low concentrations of C5-C9. She had suffered from skin lesions (chronic discoid plaques on sun-exposed areas), with ulcerations and central nervous system involvement with psychosis. Her 2 affected brothers showed a similar serum complement profile. They had suffered from 3 and 1 episodes, respectively, of meningococcal meningitis, without autoimmune disease. Factor H was undetectable in all affected sibs, and both parents presented serum concentrations of factor H that were about 50% of normal. Western blot analysis showed the absence of both factor H and FHL1 in the affected sibs. The father and 2 of the H-deficient sibs, including the proband, also had a partial C2 deficiency (<a href="/entry/217000">217000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2966809" 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="#15" class="mim-tip-reference" title="Nielsen, H. E., Christensen, K. C., Koch, C., Thomsen, B. S., Heegaard, N. H. H., Tranum-Jensen, J. <strong>Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease.</strong> Scand. J. Immun. 30: 711-718, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2532396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2532396</a>] [<a href="https://doi.org/10.1111/j.1365-3083.1989.tb02480.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2532396">Nielsen et al. (1989)</a> described a 15-year-old girl with a complete deficiency of factor H. Both parents had half normal levels. The girl had 2 episodes of meningococcal disease. The degree of H reduction was sufficient to cause increased, spontaneous activation of the alternative complement pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2532396" 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="#7" class="mim-tip-reference" title="Fijen, C. A. P., Kuijper, E. J., Te Bulte, M. T., Van De Heuvel, M. M., Holdrinet, A. C. J. M., Sim, R. B., Daha, M. R., Dankert, J. <strong>Heterozygous and homozygous factor H deficiency states in a Dutch family.</strong> Clin. Exp. Immun. 105: 511-516, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809142</a>] [<a href="https://doi.org/10.1046/j.1365-2249.1996.d01-777.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8809142">Fijen et al. (1996)</a> described a Dutch family in which both heterozygous and homozygous factor H deficiency was observed. The proband of the family suffered from subacute cutaneous lupus erythematosus and had had meningococcal meningitis. Western blot analysis showed complete factor H deficiency. Among 21 relatives of the proband encompassing 3 generations, 10 had low factor H levels, including 2 children of the proband, indicating heterozygosity. Serum studies showed decreased levels of components of the alternative complement pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8809142" 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="#20" class="mim-tip-reference" title="Vogt, B. A., Wyatt, R. J., Burke, B. A., Simonton, S. C., Kashtan, C. E. <strong>Inherited factor H deficiency and collagen type III glomerulopathy.</strong> Pediat. Nephrol. 9: 11-15, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7742208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7742208</a>] [<a href="https://doi.org/10.1007/BF00858956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7742208">Vogt et al. (1995)</a> reported a 6-year-old Native American (Sioux) boy who presented at age 13 months with hypocomplementemic hypertensive renal disease. Renal biopsy showed changes consistent with membranoproliferative glomerulonephritis, deposition of type III collagen (<a href="/entry/120180">120180</a>), and segmental complement C3 deposition in capillary loops. Decreased levels of serum C3 and factor B but normal levels of serum C4 and factor I were found; factor H was undetectable by radial immunodiffusion analysis. Slightly depressed levels of factor H were present in both parents; his sibs had normal levels. <a href="#3" class="mim-tip-reference" title="Ault, B. H., Schmidt, B. Z., Fowler, N. L., Kashtan, C. E., Ahmed, A. E., Vogt, B. A., Colten, H. R. <strong>Human factor H deficiency: mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.</strong> J. Biol. Chem. 272: 25168-25175, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9312129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9312129</a>] [<a href="https://doi.org/10.1074/jbc.272.40.25168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9312129">Ault et al. (1997)</a> reported that the child originally described by <a href="#20" class="mim-tip-reference" title="Vogt, B. A., Wyatt, R. J., Burke, B. A., Simonton, S. C., Kashtan, C. E. <strong>Inherited factor H deficiency and collagen type III glomerulopathy.</strong> Pediat. Nephrol. 9: 11-15, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7742208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7742208</a>] [<a href="https://doi.org/10.1007/BF00858956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7742208">Vogt et al. (1995)</a> underwent renal transplantation at age 7; serum C3 concentrations remained low thereafter, as did factor H levels. Western blot analysis of the patient's plasma before and after renal transplantation showed slightly increased concentration of the 45-kD factor H and no detectable 150-kD factor H when compared with 7 normal plasma samples. <a href="#3" class="mim-tip-reference" title="Ault, B. H., Schmidt, B. Z., Fowler, N. L., Kashtan, C. E., Ahmed, A. E., Vogt, B. A., Colten, H. R. <strong>Human factor H deficiency: mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.</strong> J. Biol. Chem. 272: 25168-25175, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9312129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9312129</a>] [<a href="https://doi.org/10.1074/jbc.272.40.25168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9312129">Ault et al. (1997)</a> demonstrated that the patient's fibroblasts retained 155-kD factor H protein, which was not degraded even after 12 hours, and showed that factor H was retained in the endoplasmic reticulum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7742208+9312129" 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="#12" class="mim-tip-reference" title="Licht, C., Heinen, S., Jozsi, M., Loschmann, I., Saunders, R. E., Perkins, S. J., Waldherr, R., Skerka, C., Kirschfink, M., Hoppe, B., Zipfel, P. F. <strong>Deletion of lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).</strong> Kidney Int. 70: 42-50, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16612335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16612335</a>] [<a href="https://doi.org/10.1038/sj.ki.5000269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16612335">Licht et al. (2006)</a> reported 2 girls, born of consanguineous Turkish parents, with early onset of membranoproliferative glomerulonephritis type II. Renal biopsies showed thickening of the glomerular basement membrane caused by dense deposits in the lamina densa. Immunohistochemistry showed deposition of C3. Laboratory analysis showed activation of both the alternative and classical complement pathway, and both patients and their asymptomatic mother also had autoantibodies to C3 nephritic factor (C3Nef). Genetic analysis identified a homozygous mutation in the CFH gene (<a href="/entry/134370#0014">134370.0014</a>) in the patients; both parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16612335" 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="#19" class="mim-tip-reference" title="Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F. <strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong> J. Med. Genet. 44: 193-199, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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/10.1136/jmg.2006.045328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17018561">Servais et al. (2007)</a> described a unique form of glomerulonephritis characterized by isolated mesangial C3 deposits without dense intramembranous deposits or mesangial proliferation, which the authors termed 'glomerulonephritis C3.' Heterozygous mutations in complement regulatory genes were identified in 4 of 6 unrelated patients with glomerulonephritis C3, including 2 patients each with mutations in the CFH (see, e.g., <a href="/entry/134370#0017">134370.0017</a>) and CFI genes (see, e.g., <a href="/entry/217030#0007">217030.0007</a>), respectively. In addition, 1 of 13 unrelated patients with glomerulonephritis with MPGN also had a heterozygous CFH mutation. The findings indicated that dysregulation of the complement alternative pathway is associated with a wide spectrum of diseases ranging from HUS to MPGN with C3 deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17018561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Licht, C., Heinen, S., Jozsi, M., Loschmann, I., Saunders, R. E., Perkins, S. J., Waldherr, R., Skerka, C., Kirschfink, M., Hoppe, B., Zipfel, P. F. <strong>Deletion of lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).</strong> Kidney Int. 70: 42-50, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16612335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16612335</a>] [<a href="https://doi.org/10.1038/sj.ki.5000269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16612335">Licht et al. (2006)</a> noted that a defect in complement factor H results in continuous activation of the alternative complement pathway and continuous generation of the convertase C3BbB. This results in hypocomplementemia and activation of complement on tissue surfaces that lack endogenous regulators, such as the glomerular basement membrane. Continuous C3 deposition results in the formation of dense deposits, thickening of the basement membrane, impaired renal filtration, and progressive loss of renal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16612335" 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 a Native American boy reported by <a href="#20" class="mim-tip-reference" title="Vogt, B. A., Wyatt, R. J., Burke, B. A., Simonton, S. C., Kashtan, C. E. <strong>Inherited factor H deficiency and collagen type III glomerulopathy.</strong> Pediat. Nephrol. 9: 11-15, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7742208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7742208</a>] [<a href="https://doi.org/10.1007/BF00858956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7742208">Vogt et al. (1995)</a> who had factor H deficiency and membranoproliferative glomerulonephritis, <a href="#3" class="mim-tip-reference" title="Ault, B. H., Schmidt, B. Z., Fowler, N. L., Kashtan, C. E., Ahmed, A. E., Vogt, B. A., Colten, H. R. <strong>Human factor H deficiency: mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.</strong> J. Biol. Chem. 272: 25168-25175, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9312129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9312129</a>] [<a href="https://doi.org/10.1074/jbc.272.40.25168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9312129">Ault et al. (1997)</a> identified compound heterozygosity for 2 mutations (<a href="/entry/134370#0002">134370.0002</a> and <a href="/entry/134370#0003">134370.0003</a>) in the CFH gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7742208+9312129" 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 affected sibs of a consanguineous Italian family with complement factor H deficiency reported by <a href="#5" class="mim-tip-reference" title="Brai, M., Misiano, G., Maringhini, S., Cutaja, I., Hauptmann, G. <strong>Combined homozygous factor H and heterozygous C2 deficiency in an Italian family.</strong> J. Clin. Immun. 8: 50-56, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2966809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2966809</a>] [<a href="https://doi.org/10.1007/BF00915156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2966809">Brai et al. (1988)</a> and <a href="#14" class="mim-tip-reference" title="Misiano, G., Soames, C. J., Fontaine, M., Accardo, P., Sim, R. B., Brai, M. <strong>Expression of H-related gene products in a factor H deficient family. (Abstract)</strong> Molec. Immun. 30 (suppl. 1): 33 only, 1993."None>Misiano et al. (1993)</a>, <a href="#18" class="mim-tip-reference" title="Sanchez-Corral, P., Bellavia, D., Amico, L., Brai, M., Rodriguez de Cordoba, S. <strong>Molecular basis for factor H and FHL-1 deficiency in an Italian family.</strong> Immunogenetics 51: 366-369, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10803850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10803850</a>] [<a href="https://doi.org/10.1007/s002510050631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10803850">Sanchez-Corral et al. (2000)</a> identified a homozygous nonsense mutation in the CFH gene (<a href="/entry/134370#0006">134370.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10803850+2966809" 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 1 of the brothers reported by <a href="#11" class="mim-tip-reference" title="Levy, M., Halbwachs-Mecarelli, L., Gubler, M.-C., Kohout, G., Bensenouci, A., Niaudet. P., Hauptmann, G., Lesavre, P. <strong>H deficiency in two brothers with atypical dense intramembranous deposit disease.</strong> Kidney Int. 30: 949-956, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2950269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2950269</a>] [<a href="https://doi.org/10.1038/ki.1986.278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2950269">Levy et al. (1986)</a>, <a href="#6" class="mim-tip-reference" title="Dragon-Durey, M.-A., Fremeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Fridman, W. H., Weiss, L. <strong>Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.</strong> J. Am. Soc. Nephrol. 15: 787-795, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14978182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14978182</a>] [<a href="https://doi.org/10.1097/01.asn.0000115702.28859.a7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14978182">Dragon-Durey et al. (2004)</a> identified a homozygous mutation in the CFH gene (<a href="/entry/134370#0010">134370.0010</a>). <a href="#6" class="mim-tip-reference" title="Dragon-Durey, M.-A., Fremeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Fridman, W. H., Weiss, L. <strong>Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.</strong> J. Am. Soc. Nephrol. 15: 787-795, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14978182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14978182</a>] [<a href="https://doi.org/10.1097/01.asn.0000115702.28859.a7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14978182">Dragon-Durey et al. (2004)</a> identified homozygous mutations in the CFH gene in 3 additional patients with MPGN, including 2 Turkish brothers (<a href="/entry/134370#0013">134370.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2950269+14978182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Hogasen, K., Jansen, J. H., Mollnes, T. E., Hovdenes, J., Harboe, M. <strong>Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency.</strong> J. Clin. Invest. 95: 1054-1061, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883953</a>] [<a href="https://doi.org/10.1172/JCI117751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7883953">Hogasen et al. (1995)</a> reported hereditary membranoproliferative glomerulonephritis type II caused by factor H deficiency in the Norwegian Yorkshire pig. Affected animals had excessive complement activation and massive deposits of complement in the renal glomeruli; they died of renal failure within 11 weeks of birth. <a href="#8" class="mim-tip-reference" title="Hegasy, G. A., Manuelian, T., Hogasen, K., Jansen, J. H., Zipfel, P. F. <strong>The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion.</strong> Am. J. Path. 161: 2027-2034, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12466119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12466119</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12466119[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/10.1016/S0002-9440(10)64481-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12466119">Hegasy et al. (2002)</a> identified mutations in the factor H gene as the basis for porcine factor H deficiency and membranoproliferative glomerulonephritis. Studies showed that the mutant factor H was not properly secreted from cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12466119+7883953" 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="#16" class="mim-tip-reference" title="Pickering, M. C., Cook, H. T., Warren, J., Bygrave, A. E., Moss, J., Walport, M. J., Botto, M. <strong>Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H.</strong> Nature Genet. 31: 424-428, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12091909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12091909</a>] [<a href="https://doi.org/10.1038/ng912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12091909">Pickering et al. (2002)</a> showed that mice deficient in factor H (Cfh -/- mice) develop membranoproliferative glomerulonephritis spontaneously and are hypersensitive to developing renal injury caused by immune complexes. Introducing a second mutation in the gene encoding complement factor B (CFB; <a href="/entry/138470">138470</a>), which prevents C3 turnover in vivo, prevented development of the phenotype of Cfh -/- mice. The authors concluded that uncontrolled C3 activation in vivo is essential for the development of membranoproliferative glomerulonephritis associated with deficiency of factor H. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12091909" 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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<strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong>
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[<a href="https://doi.org/10.1136/jmg.2005.038315" target="_blank">Full Text</a>]
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<a id="Servais2007" class="mim-anchor"></a>
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Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F.
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<strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong>
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J. Med. Genet. 44: 193-199, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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=17018561" 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/10.1136/jmg.2006.045328" target="_blank">Full Text</a>]
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<a id="Vogt1995" class="mim-anchor"></a>
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Vogt, B. A., Wyatt, R. J., Burke, B. A., Simonton, S. C., Kashtan, C. E.
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<strong>Inherited factor H deficiency and collagen type III glomerulopathy.</strong>
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Pediat. Nephrol. 9: 11-15, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7742208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7742208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7742208" 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/10.1007/BF00858956" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Welch, T. R.
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<strong>Complement in glomerulonephritis.</strong>
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Nature Genet. 31: 333-334, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12091912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12091912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12091912" 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/10.1038/ng933" target="_blank">Full Text</a>]
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Wong, E. K. S., Kavanagh, D.
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<strong>Diseases of complement dysregulation--an overview.</strong>
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Semin. Immunopath. 40: 49-64, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29327071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29327071</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29327071" 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/10.1007/s00281-017-0663-8" target="_blank">Full Text</a>]
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Wyatt, R. J., Julian, B. A., Weinstein, A., Rothfield, N. F., McLean, R. H.
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<strong>Partial H (beta-1H) deficiency and glomerulonephritis in two families.</strong>
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J. Clin. Immun. 2: 110-117, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6461667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6461667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6461667" 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/10.1007/BF00916894" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 03/24/2021
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Cassandra L. Kniffin - updated : 5/1/2007<br>Cassandra L. Kniffin - updated : 9/28/2006
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Victor A. McKusick : 1/4/2006
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carol : 03/31/2021
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alopez : 03/29/2021<br>ckniffin : 03/24/2021<br>terry : 03/21/2012<br>carol : 12/12/2011<br>carol : 6/23/2011<br>ckniffin : 4/20/2011<br>terry : 8/9/2007<br>carol : 5/4/2007<br>ckniffin : 5/1/2007<br>carol : 10/5/2006<br>ckniffin : 9/28/2006<br>joanna : 7/17/2006<br>mgross : 1/4/2006<br>mgross : 1/4/2006
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<strong>#</strong> 609814
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COMPLEMENT FACTOR H DEFICIENCY; CFHD
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<em>Alternative titles; symbols</em>
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C3 GLOMERULOPATHY 1; C3G1<br />
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FACTOR H DEFICIENCY<br />
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CFH DEFICIENCY
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<strong>SNOMEDCT:</strong> 234622003;
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<strong>ORPHA:</strong> 200421, 2134, 329918, 54370, 544472, 93571;
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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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1q31.3
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Complement factor H deficiency
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<span class="mim-font">
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609814
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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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CFH
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134370
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that complement factor H deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding complement factor H (CFH; 134370) on chromosome 1q31. Heterozygous mutation carriers may show milder manifestations.</p><p>Mutation in the CFH gene can also cause increased susceptibility to atypical hemolytic-uremic syndrome (AHUS1; 235400).</p>
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<strong>Description</strong>
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<p>Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 (120700) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by Ault, 2000, reviews by Riedl et al., 2017 and Wong and Kavanagh, 2018). </p><p><strong><em>Nomenclature and Classification</em></strong></p><p>
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Several reviews (Ito et al., 2017, Riedl et al., 2017, Wong and Kavanagh, 2018) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. Welch (2002) also discussed the role of complement in renal disease. </p><p>A subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by Abrera-Abeleda et al., 2006). </p><p><strong><em>Genetic Heterogeneity of C3G</em></strong></p><p>
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C3G2 (610984) is caused by mutation in the CFI gene (217030) on chromosome 4q25, and C3G3 (614809) is caused by mutation in the CFHR5 gene (608593) on chromosome 1q31.</p>
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<strong>Clinical Features</strong>
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<p>Wyatt et al. (1982) reported 2 families with partial factor H deficiency and glomerulonephritis. In 1 family, of Polish origin, a teenaged male had vasculitis, thrombocytopenia, proteinuria, and depressed levels of serum factor H and complement component C3. The mother, maternal uncle, and a cousin had depressed H levels. The second family was of English-Irish extraction living in Kentucky; 3 persons in 3 generations had H levels about half normal. The index case had depressed serum factors H and B levels and IgA nephropathy (161950) which progressed to renal failure. A sister also had IgA nephropathy and depressed serum H and C3 levels. </p><p>Levy et al. (1986) reported a consanguineous Algerian family in which 2 brothers had early-onset glomerulonephritis with C3 deposits and low levels (less than 10% of normal) of complement factor H. The factor H deficiency was defined by undetectable complement hemolytic activity by the classic (CH50) and alternate (AP50) pathways, and low levels of C3 and factor B (138470). The unaffected first-cousin parents and 2 healthy sibs, presumed heterozygotes, had half-normal H values. Renal disease was discovered at 14 and 4 months of age in the elder and younger brother, respectively. The elder had recurrent episodes of macroscopic hematuria occurring during the course of infections but did not seem to have an excessive number of infections; the younger had repeated upper and lower respiratory tract infections and nearly persistent macroscopic hematuria. Electron microscopy of renal biopsies from both patients were typical for intramembranous dense deposit disease, but immunofluorescence microscopy showed an atypical pattern with abundant granular C3 deposits within the mesangium and along the capillary walls. </p><p>Lopez-Larrea et al. (1987) studied a family in which 3 female sibs had undetectable levels of factor H and C3 nephritic factor, low levels of factor B, C3, and C5 (see 120500), and normal levels of C4-binding protein (120830), factor I (217030), and classic pathway factors. C4 (see 120810) levels were low in 1 patient. Two of the sibs had Neisseria meningitidis sepsis; all 3 developed membranoproliferative glomerulonephritis.</p><p>Brai et al. (1988) and Misiano et al. (1993) described a consanguineous Italian family in which 3 sibs had deficiency of factor H and its spliced isoform FHL1. The proband had systemic lupus erythematosus (152700) with chronic renal failure, reduced C3 serum levels, and low concentrations of C5-C9. She had suffered from skin lesions (chronic discoid plaques on sun-exposed areas), with ulcerations and central nervous system involvement with psychosis. Her 2 affected brothers showed a similar serum complement profile. They had suffered from 3 and 1 episodes, respectively, of meningococcal meningitis, without autoimmune disease. Factor H was undetectable in all affected sibs, and both parents presented serum concentrations of factor H that were about 50% of normal. Western blot analysis showed the absence of both factor H and FHL1 in the affected sibs. The father and 2 of the H-deficient sibs, including the proband, also had a partial C2 deficiency (217000). </p><p>Nielsen et al. (1989) described a 15-year-old girl with a complete deficiency of factor H. Both parents had half normal levels. The girl had 2 episodes of meningococcal disease. The degree of H reduction was sufficient to cause increased, spontaneous activation of the alternative complement pathway. </p><p>Fijen et al. (1996) described a Dutch family in which both heterozygous and homozygous factor H deficiency was observed. The proband of the family suffered from subacute cutaneous lupus erythematosus and had had meningococcal meningitis. Western blot analysis showed complete factor H deficiency. Among 21 relatives of the proband encompassing 3 generations, 10 had low factor H levels, including 2 children of the proband, indicating heterozygosity. Serum studies showed decreased levels of components of the alternative complement pathway. </p><p>Vogt et al. (1995) reported a 6-year-old Native American (Sioux) boy who presented at age 13 months with hypocomplementemic hypertensive renal disease. Renal biopsy showed changes consistent with membranoproliferative glomerulonephritis, deposition of type III collagen (120180), and segmental complement C3 deposition in capillary loops. Decreased levels of serum C3 and factor B but normal levels of serum C4 and factor I were found; factor H was undetectable by radial immunodiffusion analysis. Slightly depressed levels of factor H were present in both parents; his sibs had normal levels. Ault et al. (1997) reported that the child originally described by Vogt et al. (1995) underwent renal transplantation at age 7; serum C3 concentrations remained low thereafter, as did factor H levels. Western blot analysis of the patient's plasma before and after renal transplantation showed slightly increased concentration of the 45-kD factor H and no detectable 150-kD factor H when compared with 7 normal plasma samples. Ault et al. (1997) demonstrated that the patient's fibroblasts retained 155-kD factor H protein, which was not degraded even after 12 hours, and showed that factor H was retained in the endoplasmic reticulum. </p><p>Licht et al. (2006) reported 2 girls, born of consanguineous Turkish parents, with early onset of membranoproliferative glomerulonephritis type II. Renal biopsies showed thickening of the glomerular basement membrane caused by dense deposits in the lamina densa. Immunohistochemistry showed deposition of C3. Laboratory analysis showed activation of both the alternative and classical complement pathway, and both patients and their asymptomatic mother also had autoantibodies to C3 nephritic factor (C3Nef). Genetic analysis identified a homozygous mutation in the CFH gene (134370.0014) in the patients; both parents were heterozygous for the mutation. </p><p>Servais et al. (2007) described a unique form of glomerulonephritis characterized by isolated mesangial C3 deposits without dense intramembranous deposits or mesangial proliferation, which the authors termed 'glomerulonephritis C3.' Heterozygous mutations in complement regulatory genes were identified in 4 of 6 unrelated patients with glomerulonephritis C3, including 2 patients each with mutations in the CFH (see, e.g., 134370.0017) and CFI genes (see, e.g., 217030.0007), respectively. In addition, 1 of 13 unrelated patients with glomerulonephritis with MPGN also had a heterozygous CFH mutation. The findings indicated that dysregulation of the complement alternative pathway is associated with a wide spectrum of diseases ranging from HUS to MPGN with C3 deposits. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<p>Licht et al. (2006) noted that a defect in complement factor H results in continuous activation of the alternative complement pathway and continuous generation of the convertase C3BbB. This results in hypocomplementemia and activation of complement on tissue surfaces that lack endogenous regulators, such as the glomerular basement membrane. Continuous C3 deposition results in the formation of dense deposits, thickening of the basement membrane, impaired renal filtration, and progressive loss of renal function. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a Native American boy reported by Vogt et al. (1995) who had factor H deficiency and membranoproliferative glomerulonephritis, Ault et al. (1997) identified compound heterozygosity for 2 mutations (134370.0002 and 134370.0003) in the CFH gene. </p><p>In 3 affected sibs of a consanguineous Italian family with complement factor H deficiency reported by Brai et al. (1988) and Misiano et al. (1993), Sanchez-Corral et al. (2000) identified a homozygous nonsense mutation in the CFH gene (134370.0006). </p><p>In 1 of the brothers reported by Levy et al. (1986), Dragon-Durey et al. (2004) identified a homozygous mutation in the CFH gene (134370.0010). Dragon-Durey et al. (2004) identified homozygous mutations in the CFH gene in 3 additional patients with MPGN, including 2 Turkish brothers (134370.0013). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<p>Hogasen et al. (1995) reported hereditary membranoproliferative glomerulonephritis type II caused by factor H deficiency in the Norwegian Yorkshire pig. Affected animals had excessive complement activation and massive deposits of complement in the renal glomeruli; they died of renal failure within 11 weeks of birth. Hegasy et al. (2002) identified mutations in the factor H gene as the basis for porcine factor H deficiency and membranoproliferative glomerulonephritis. Studies showed that the mutant factor H was not properly secreted from cells. </p><p>Pickering et al. (2002) showed that mice deficient in factor H (Cfh -/- mice) develop membranoproliferative glomerulonephritis spontaneously and are hypersensitive to developing renal injury caused by immune complexes. Introducing a second mutation in the gene encoding complement factor B (CFB; 138470), which prevents C3 turnover in vivo, prevented development of the phenotype of Cfh -/- mice. The authors concluded that uncontrolled C3 activation in vivo is essential for the development of membranoproliferative glomerulonephritis associated with deficiency of factor H. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Appel et al. (2005)
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<strong>Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).</strong>
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Wyatt, R. J., Julian, B. A., Weinstein, A., Rothfield, N. F., McLean, R. H.
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<strong>Partial H (beta-1H) deficiency and glomerulonephritis in two families.</strong>
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J. Clin. Immun. 2: 110-117, 1982.
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[PubMed: 6461667]
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[Full Text: https://doi.org/10.1007/BF00916894]
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Cassandra L. Kniffin - updated : 03/24/2021<br>Cassandra L. Kniffin - updated : 5/1/2007<br>Cassandra L. Kniffin - updated : 9/28/2006
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Victor A. McKusick : 1/4/2006
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carol : 03/31/2021<br>alopez : 03/29/2021<br>ckniffin : 03/24/2021<br>terry : 03/21/2012<br>carol : 12/12/2011<br>carol : 6/23/2011<br>ckniffin : 4/20/2011<br>terry : 8/9/2007<br>carol : 5/4/2007<br>ckniffin : 5/1/2007<br>carol : 10/5/2006<br>ckniffin : 9/28/2006<br>joanna : 7/17/2006<br>mgross : 1/4/2006<br>mgross : 1/4/2006
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