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Entry
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- #600886 - HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
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- OMIM
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<span class="h4">#600886</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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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<div><a href="https://clinicaltrials.gov/search?cond=(HYPERFERRITINEMIA WITH WITHOUT CATARACT) OR (FTL)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1580&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3553" 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://medlineplus.gov/genetics/condition/hyperferritinemia-cataract-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600886[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/7d2f656e-679a-42ce-83b2-eb6d26194755/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111256" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/600886" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111256" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702398007<br />
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<strong>ORPHA:</strong> 163<br />
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<strong>DO:</strong> 0111256<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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600886
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</span>
|
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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HYPERFERRITINEMIA-CATARACT SYNDROME<br />
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HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS
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</span>
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</h4>
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/920?start=-3&limit=10&highlight=920">
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19q13.33
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hyperferritinemia-cataract syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600886"> 600886 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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FTL
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/134790"> 134790 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/600886" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/600886" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/600886" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Congenital nuclear cataract (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5361003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5361003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.33</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158551</a>]</span><br /> -
|
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Pulverulent cataract (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003884001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003884001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833118&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833118</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010693</a>]</span><br /> -
|
|
'Sunflower' cataract (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0865529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0865529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000642</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Elevated serum ferritin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241013</a>, <a href="https://bioportal.bioontology.org/search?q=C3854388&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3854388</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003281</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003281</a>]</span><br /> -
|
|
Normal serum iron <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165622003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427429</a>]</span><br /> -
|
|
Normal transferrin saturation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551241</a>]</span><br /> -
|
|
Normal red cell counts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554749</a>]</span><br /> -
|
|
Elevated ferritin L subunit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551242</a>]</span><br /> -
|
|
Serum ferritin hyperglycosylation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551243</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Cataracts may be subclinical in some patients<br /> -
|
|
Age at diagnosis of cataract may range up to 40 years<br /> -
|
|
Severity of clinical phenotype varies both within and between kindreds<br /> -
|
|
Some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
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- Caused by mutation in the ferritin light chain gene (FTL, <a href="/entry/134790#0001">134790.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<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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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hyperferritinemia with or without cataract (HRFTC) is caused by heterozygous mutation in the iron-responsive element (IRE) in the 5-prime noncoding region of the ferritin light chain gene (FTL; <a href="/entry/134790">134790</a>) on chromosome 19q13.</p><p>Some patients, born in consanguineous families, may carry homozygous mutations, but they do not appear to have a more severe phenotype (<a href="#6" class="mim-tip-reference" title="Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P. <strong>Homozygous mutation of the 5-prime UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong> Haematologica 98: e42, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>] [<a href="https://doi.org/10.3324/haematol.2012.077198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300176">Giansily-Blaizot et al., 2013</a>; <a href="#11" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23421845+23300176" 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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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#8" class="mim-tip-reference" title="Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M. <strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong> Brit. J. Haemat. 90: 931-934, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7669675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7669675</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb05218.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7669675">Girelli et al. (1995)</a> studied 2 Italian families in which a combination of congenital nuclear cataract and elevated serum ferritin not related to iron overload was transmitted as an autosomal dominant trait. Affected individuals had normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts were normal and venesection rapidly resulted in iron deficiency anemia. Both families had lived in northern Italy for many generations, and both had instances of male-to-male transmission of the trait. Studies with monoclonal antibodies demonstrated no ferritin H subunit in either normal subjects or those with hyperferritinemia, but elevation of the ferritin L subunit in those with elevated serum ferritin. No relationship between high serum ferritin and HLA type was found. <a href="#8" class="mim-tip-reference" title="Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M. <strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong> Brit. J. Haemat. 90: 931-934, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7669675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7669675</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb05218.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7669675">Girelli et al. (1995)</a> noted that the FTL and MP19 (<a href="/entry/154045">154045</a>) genes map to 19q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7669675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati, P., Berthier, M., Oriot, D., Beaumont, C. <strong>Bilateral cataract and high serum ferritin: a new dominant genetic disorder?</strong> J. Med. Genet. 32: 778-779, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558554</a>] [<a href="https://doi.org/10.1136/jmg.32.10.778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558554">Bonneau et al. (1995)</a> reported cosegregation of dominantly inherited cataract with an abnormally high level of serum ferritin in a 3-generation pedigree and suggested 2 possibilities: that the cataract-hyperferritinemia syndrome is a disorder of ferritin metabolism leading to lens opacity, or that it is a contiguous gene syndrome involving the L-ferritin gene and the gene encoding lens membrane protein MP19 on 19q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558554" 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="#6" class="mim-tip-reference" title="Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P. <strong>Homozygous mutation of the 5-prime UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong> Haematologica 98: e42, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>] [<a href="https://doi.org/10.3324/haematol.2012.077198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300176">Giansily-Blaizot et al. (2013)</a> reported a 54-year-old woman of Canadian descent who presented with unexplained hyperferritinemia and microcytic anemia. Medical history revealed that she was diagnosed with bilateral cataracts at age 35 years. Several family members, including both possibly consanguineous parents and 2 sibs, had visual impairment or known cataracts, but these individuals were not available for examination. Genetic analysis identified a homozygous mutation in the FTL gene (<a href="/entry/134790#0009">134790.0009</a>). Homozygous mutations are very unusual in this disorder, but the patient's phenotype was similar to that of heterozygous mutation carriers. <a href="#6" class="mim-tip-reference" title="Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P. <strong>Homozygous mutation of the 5-prime UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong> Haematologica 98: e42, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>] [<a href="https://doi.org/10.3324/haematol.2012.077198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300176">Giansily-Blaizot et al. (2013)</a> speculated that the mutation, which does not occur at the highly conserved region in the bulge or upper stem of the iron response element of the FTL gene, may have milder effects than other mutations, even in the homozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23300176" 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="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al. (2013)</a> reported a Spanish family with HHCS. The proband, who was born of consanguineous parents, was a 54-year-old woman with a 10-year history of hyperferritinemia and cataracts since 18 years of age. She had no signs of iron overload; serum iron, transferrin saturation, and liver functional tests were normal. A sister and cousin had a similar disorder. Family history revealed an affected deceased uncle and an affected deceased father. The proband's deceased mother was never diagnosed with cataracts, but had severe myopia. Three children of the proband and her sister also showed signs of the disorder. Genetic analysis identified a homozygous mutation (+36C-U; <a href="/entry/134790#0020">134790.0020</a>) in the proband and her sister, whereas the affected children and the cousin were heterozygous for the mutation. The individuals with the homozygous mutations were not significantly more affected than heterozygotes. In vitro studies showed that the mutation caused a mild reduction in the binding of iron regulatory proteins. The report indicated that genotype/phenotype correlations in this disorder are difficult to establish due to inter- and intraindividual variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23421845" 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>The transmission pattern of hyperferritinemia with cataract in the families reported by <a href="#8" class="mim-tip-reference" title="Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M. <strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong> Brit. J. Haemat. 90: 931-934, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7669675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7669675</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb05218.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7669675">Girelli et al. (1995)</a> and <a href="#2" class="mim-tip-reference" title="Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati, P., Berthier, M., Oriot, D., Beaumont, C. <strong>Bilateral cataract and high serum ferritin: a new dominant genetic disorder?</strong> J. Med. Genet. 32: 778-779, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558554</a>] [<a href="https://doi.org/10.1136/jmg.32.10.778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558554">Bonneau et al. (1995)</a> was consistent with autosomal dominant inheritance. Some patients, born in consanguineous families, may carry homozygous mutations, but this does not appear to result in a more severe phenotype (<a href="#6" class="mim-tip-reference" title="Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P. <strong>Homozygous mutation of the 5-prime UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong> Haematologica 98: e42, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>] [<a href="https://doi.org/10.3324/haematol.2012.077198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23300176">Giansily-Blaizot et al., 2013</a>; <a href="#11" class="mim-tip-reference" title="Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M. <strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong> Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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/10.1186/1750-1172-8-30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23421845">Luscieti et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23421845+23300176+8558554+7669675" 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 affected members of the family with bilateral cataract and high serum ferritin reported by <a href="#2" class="mim-tip-reference" title="Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati, P., Berthier, M., Oriot, D., Beaumont, C. <strong>Bilateral cataract and high serum ferritin: a new dominant genetic disorder?</strong> J. Med. Genet. 32: 778-779, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558554</a>] [<a href="https://doi.org/10.1136/jmg.32.10.778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558554">Bonneau et al. (1995)</a>, <a href="#1" class="mim-tip-reference" title="Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. <strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong> Nature Genet. 11: 444-446, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>] [<a href="https://doi.org/10.1038/ng1295-444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493028">Beaumont et al. (1995)</a> identified a point mutation in the IRE in the 5-prime noncoding region of the ferritin light chain gene (<a href="/entry/134790#0001">134790.0001</a>). The synthesis of ferritin, the iron-storing molecule, is regulated at the translational level by iron through interaction between a cytoplasmic protein denoted iron regulatory protein (IRP) or IRE-binding protein (<a href="/entry/100880">100880</a>; <a href="/entry/147582">147582</a>), and a conserved nucleotide motif present in the 5-prime noncoding region of all ferritin mRNAs, the IRE. The IRE region forms a stem-loop structure; when the supply of iron to the cells is limited, IRP binds to IRE and represses ferritin synthesis. <a href="#1" class="mim-tip-reference" title="Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. <strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong> Nature Genet. 11: 444-446, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>] [<a href="https://doi.org/10.1038/ng1295-444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493028">Beaumont et al. (1995)</a> noted that this was the first mutation affecting the IRP-IRE interaction and the iron-mediated regulation of ferritin synthesis. They suggested that excess production of ferritin in tissues is responsible for the hyperferritinemia and that intracellular accumulation of ferritin leads to cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7493028+8558554" 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 Australian pedigrees with hereditary hyperferritinemia-cataract syndrome, <a href="#12" class="mim-tip-reference" title="McLeod, J. L., Craig, J., Gumley, S., Roberts, S., Kirkland, M. A. <strong>Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.</strong> Brit. J. Haemat. 118: 1179-1182, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12199804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12199804</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03690.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12199804">McLeod et al. (2002)</a> identified mutations in the FTL gene. One of the mutations was the same as that identified by <a href="#1" class="mim-tip-reference" title="Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D. <strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong> Nature Genet. 11: 444-446, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>] [<a href="https://doi.org/10.1038/ng1295-444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493028">Beaumont et al. (1995)</a>; see <a href="/entry/134790#0001">134790.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7493028+12199804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S. <strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong> Brit. J. Haemat. 108: 480-482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759702</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01920.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759702">Camaschella et al. (2000)</a> reported a father and daughter with 'modest' hyperferritinemia and a mutation in the IRE of FTL (51G-C; <a href="/entry/134790#0009">134790.0009</a>) who had no history of visual impairment. Upon slit lamp examination, bilateral fine lenticular changes were observed in both subjects. Computational analysis predicted that the 51G-C substitution would alter the conformation of the stem loop without modifying the residues involved in direct contact with IRPs, and functional analysis showed that the mutation reduced, but did not abolish, binding to IRPs. <a href="#3" class="mim-tip-reference" title="Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S. <strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong> Brit. J. Haemat. 108: 480-482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759702</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01920.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759702">Camaschella et al. (2000)</a> stated that these findings supported a direct relationship between the structural effect of IRE mutations and phenotypic expression of HHCS, and indicated an association between the level of l-ferritin expression and severity of cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759702" 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="Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R. <strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong> Brit. J. Haemat. 115: 334-340, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703332</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03116.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703332">Girelli et al. (2001)</a> studied a total of 62 patients in 14 unrelated families with 9 different mutations in the FTL gene. No relevant symptoms other than visual impairment were found to be associated with the syndrome. Marked phenotypic variability was observed, particularly with regard to ocular involvement; in 16 subjects with the 39C-T mutation in the FTL gene (<a href="/entry/134790#0007">134790.0007</a>), age at diagnosis for cataract ranged from 6 to 40 years. Similarly, serum ferritin levels varied substantially between subjects sharing the same mutation. One infant lacked cataracts at birth and at age 1 year, suggesting that the cataract is not necessarily congenital. Ferritin content of the lens removed at surgery in 2 family members was about 1,500-fold higher than in controls. The cataract as viewed by slit-lamp was described as a 'pulverulent' cataract in some patients and as a 'sunflower' cataract in others. <a href="#7" class="mim-tip-reference" title="Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R. <strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong> Brit. J. Haemat. 115: 334-340, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703332</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03116.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703332">Girelli et al. (2001)</a> presented a pedigree of an affected 4-generation family with a 29-bp deletion (<a href="/entry/134790#0005">134790.0005</a>) in the FTL gene that removed most of the IRE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with hyperferritinemia-cataract syndrome, <a href="#4" class="mim-tip-reference" title="Campagnoli, M. F., Pimazzoni, R., Bosio, S., Zecchina, G., DeGobbi, M., Bosso, P., Oldani, B., Ramenghi, U. <strong>Onset of cataract in early infancy associated with a 32G-C transition in the iron responsive element of L-ferritin.</strong> Europ. J. Pediat. 161: 499-502, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200611</a>] [<a href="https://doi.org/10.1007/s00431-002-1019-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200611">Campagnoli et al. (2002)</a> identified a heterozygous mutation in the FTL gene (<a href="/entry/134790#0012">134790.0012</a>). Two sisters in the last generation developed cataracts at age 18 months, earlier than most reported cases. The authors suggested that the early onset rules out the possibility that cataracts in this syndrome are due to age-accumulation of ferritin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a healthy 52-year-old woman who was a control subject in a genetic study of hyperferritinemia-cataract syndrome, <a href="#5" class="mim-tip-reference" title="Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P. <strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong> J. Med. Genet. 41: e81, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173247</a>] [<a href="https://doi.org/10.1136/jmg.2003.011718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15173247">Cremonesi et al. (2004)</a> identified a heterozygous mutation in the ATG start codon of the FTL gene, predicted to disable protein translation and expression. She had no history of iron deficiency anemia or neurologic dysfunction. Hematologic examination was normal except for decreased serum ferritin. The findings suggested that L-ferritin has no effect on systemic iron metabolism and also indicated that neuroferritinopathy is not a consequence of haploinsufficiency of L-ferritin, but likely results from gain-of-function mutations in the FTL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173247" 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="#9" class="mim-tip-reference" title="Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C. <strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong> Haematologica 94: 335-339, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19176363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19176363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19176363[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/10.3324/haematol.2008.000125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19176363">Kannengiesser et al. (2009)</a> analyzed the FTL gene in 91 probands with hyperferritinemia, including 25 familial cases and 66 isolated cases. Some patients were referred for early-onset cataract, but none had an IRE mutation in FTL exon 1; however, heterozygosity for a missense mutation in the N terminus (T30I; <a href="/entry/134790#0017">134790.0017</a>) was identified in 12 familial and 5 isolated probands, 1 of whom had bilateral cataract. The mutation segregated with disease in the 10 families that underwent cosegregation analysis. There were significant fluctuations in serum ferritin levels, both over time in a given individual and between affected individuals within the same family. No characteristic clinical symptoms were found in the 37 mutation-positive individuals, although 4 complained of joint pain and 3 of asthenia. Serum ferritin hyperglycosylation ranging from 90 to 99% (normal range, 50 to 80%) was observed in 9 mutation-positive individuals tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19176363" 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 7 kindreds from the United Kingdom with hyperferritinemia-cataract syndrome containing 49 individuals with premature cataract, <a href="#10" class="mim-tip-reference" title="Lachlan, K. L., Temple, I. K., Mumford, A. D. <strong>Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.</strong> Europ. J. Hum. Genet. 12: 790-796, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15280904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15280904</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15280904">Lachlan et al. (2004)</a> found that the severity of the clinical phenotype was variable both within and between kindreds and showed no clear relationship with FTL genotype, confirming the findings reported by <a href="#7" class="mim-tip-reference" title="Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R. <strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong> Brit. J. Haemat. 115: 334-340, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703332</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03116.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11703332">Girelli et al. (2001)</a> in a European case series. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11703332+15280904" 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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Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D.
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<strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong>
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Nature Genet. 11: 444-446, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493028" 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/ng1295-444" target="_blank">Full Text</a>]
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Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati, P., Berthier, M., Oriot, D., Beaumont, C.
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<strong>Bilateral cataract and high serum ferritin: a new dominant genetic disorder?</strong>
|
|
J. Med. Genet. 32: 778-779, 1995.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558554</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558554" 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.32.10.778" target="_blank">Full Text</a>]
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Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S.
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<strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong>
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Brit. J. Haemat. 108: 480-482, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759702" 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/10.1046/j.1365-2141.2000.01920.x" target="_blank">Full Text</a>]
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Campagnoli, M. F., Pimazzoni, R., Bosio, S., Zecchina, G., DeGobbi, M., Bosso, P., Oldani, B., Ramenghi, U.
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<strong>Onset of cataract in early infancy associated with a 32G-C transition in the iron responsive element of L-ferritin.</strong>
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Europ. J. Pediat. 161: 499-502, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200611" 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/s00431-002-1019-4" target="_blank">Full Text</a>]
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Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P.
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<strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong>
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J. Med. Genet. 41: e81, 2004. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173247" 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.2003.011718" target="_blank">Full Text</a>]
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Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P.
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<strong>Homozygous mutation of the 5-prime UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong>
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Haematologica 98: e42, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23300176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23300176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23300176" 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/10.3324/haematol.2012.077198" target="_blank">Full Text</a>]
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Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R.
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<strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong>
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Brit. J. Haemat. 115: 334-340, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11703332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11703332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11703332" 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/10.1046/j.1365-2141.2001.03116.x" target="_blank">Full Text</a>]
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Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M.
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<strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong>
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Brit. J. Haemat. 90: 931-934, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7669675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7669675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7669675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1995.tb05218.x" target="_blank">Full Text</a>]
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Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C.
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<strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong>
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Haematologica 94: 335-339, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19176363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19176363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19176363[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=19176363" 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/10.3324/haematol.2008.000125" target="_blank">Full Text</a>]
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<a id="Lachlan2004" class="mim-anchor"></a>
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Lachlan, K. L., Temple, I. K., Mumford, A. D.
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<strong>Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.</strong>
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Europ. J. Hum. Genet. 12: 790-796, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15280904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15280904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15280904" 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/sj.ejhg.5201252" target="_blank">Full Text</a>]
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<a id="Luscieti2013" class="mim-anchor"></a>
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Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M.
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<strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong>
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Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23421845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23421845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23421845[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=23421845" 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/10.1186/1750-1172-8-30" target="_blank">Full Text</a>]
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McLeod, J. L., Craig, J., Gumley, S., Roberts, S., Kirkland, M. A.
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<strong>Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.</strong>
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Brit. J. Haemat. 118: 1179-1182, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12199804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12199804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12199804" 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/10.1046/j.1365-2141.2002.03690.x" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 1/15/2014
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Marla J. F. O'Neill - updated : 2/1/2013<br>Cassandra L. Kniffin - updated : 5/14/2007<br>Marla J. F. O'Neill - updated : 11/5/2004<br>Cassandra L. Kniffin - updated : 7/13/2004<br>Victor A. McKusick - updated : 10/21/2002<br>Victor A. McKusick - updated : 1/24/2002
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Victor A. McKusick : 11/6/1995
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carol : 10/19/2017
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carol : 05/30/2017<br>carol : 05/02/2017<br>carol : 01/15/2014<br>ckniffin : 1/15/2014<br>carol : 12/19/2013<br>alopez : 2/1/2013<br>terry : 4/30/2010<br>wwang : 5/16/2007<br>ckniffin : 5/14/2007<br>tkritzer : 11/5/2004<br>carol : 7/13/2004<br>ckniffin : 7/13/2004<br>carol : 10/24/2002<br>tkritzer : 10/21/2002<br>tkritzer : 10/21/2002<br>tkritzer : 10/21/2002<br>carol : 2/6/2002<br>mcapotos : 2/4/2002<br>terry : 1/24/2002<br>carol : 7/12/2000<br>carol : 5/18/1999<br>carol : 1/6/1999<br>jamie : 12/18/1996<br>mark : 12/7/1995<br>terry : 12/7/1995<br>terry : 12/7/1995<br>mark : 11/6/1995
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<strong>#</strong> 600886
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HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
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HYPERFERRITINEMIA-CATARACT SYNDROME<br />
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HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS
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<strong>SNOMEDCT:</strong> 702398007;
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<strong>ORPHA:</strong> 163;
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<strong>DO:</strong> 0111256;
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Location
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Phenotype
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Inheritance
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19q13.33
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Hyperferritinemia-cataract syndrome
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600886
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Autosomal dominant
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3
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FTL
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134790
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<p>A number sign (#) is used with this entry because hyperferritinemia with or without cataract (HRFTC) is caused by heterozygous mutation in the iron-responsive element (IRE) in the 5-prime noncoding region of the ferritin light chain gene (FTL; 134790) on chromosome 19q13.</p><p>Some patients, born in consanguineous families, may carry homozygous mutations, but they do not appear to have a more severe phenotype (Giansily-Blaizot et al., 2013; Luscieti et al., 2013). </p>
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<strong>Clinical Features</strong>
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<p>Girelli et al. (1995) studied 2 Italian families in which a combination of congenital nuclear cataract and elevated serum ferritin not related to iron overload was transmitted as an autosomal dominant trait. Affected individuals had normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts were normal and venesection rapidly resulted in iron deficiency anemia. Both families had lived in northern Italy for many generations, and both had instances of male-to-male transmission of the trait. Studies with monoclonal antibodies demonstrated no ferritin H subunit in either normal subjects or those with hyperferritinemia, but elevation of the ferritin L subunit in those with elevated serum ferritin. No relationship between high serum ferritin and HLA type was found. Girelli et al. (1995) noted that the FTL and MP19 (154045) genes map to 19q. </p><p>Bonneau et al. (1995) reported cosegregation of dominantly inherited cataract with an abnormally high level of serum ferritin in a 3-generation pedigree and suggested 2 possibilities: that the cataract-hyperferritinemia syndrome is a disorder of ferritin metabolism leading to lens opacity, or that it is a contiguous gene syndrome involving the L-ferritin gene and the gene encoding lens membrane protein MP19 on 19q. </p><p>Giansily-Blaizot et al. (2013) reported a 54-year-old woman of Canadian descent who presented with unexplained hyperferritinemia and microcytic anemia. Medical history revealed that she was diagnosed with bilateral cataracts at age 35 years. Several family members, including both possibly consanguineous parents and 2 sibs, had visual impairment or known cataracts, but these individuals were not available for examination. Genetic analysis identified a homozygous mutation in the FTL gene (134790.0009). Homozygous mutations are very unusual in this disorder, but the patient's phenotype was similar to that of heterozygous mutation carriers. Giansily-Blaizot et al. (2013) speculated that the mutation, which does not occur at the highly conserved region in the bulge or upper stem of the iron response element of the FTL gene, may have milder effects than other mutations, even in the homozygous state. </p><p>Luscieti et al. (2013) reported a Spanish family with HHCS. The proband, who was born of consanguineous parents, was a 54-year-old woman with a 10-year history of hyperferritinemia and cataracts since 18 years of age. She had no signs of iron overload; serum iron, transferrin saturation, and liver functional tests were normal. A sister and cousin had a similar disorder. Family history revealed an affected deceased uncle and an affected deceased father. The proband's deceased mother was never diagnosed with cataracts, but had severe myopia. Three children of the proband and her sister also showed signs of the disorder. Genetic analysis identified a homozygous mutation (+36C-U; 134790.0020) in the proband and her sister, whereas the affected children and the cousin were heterozygous for the mutation. The individuals with the homozygous mutations were not significantly more affected than heterozygotes. In vitro studies showed that the mutation caused a mild reduction in the binding of iron regulatory proteins. The report indicated that genotype/phenotype correlations in this disorder are difficult to establish due to inter- and intraindividual variability. </p>
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<p>The transmission pattern of hyperferritinemia with cataract in the families reported by Girelli et al. (1995) and Bonneau et al. (1995) was consistent with autosomal dominant inheritance. Some patients, born in consanguineous families, may carry homozygous mutations, but this does not appear to result in a more severe phenotype (Giansily-Blaizot et al., 2013; Luscieti et al., 2013). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of the family with bilateral cataract and high serum ferritin reported by Bonneau et al. (1995), Beaumont et al. (1995) identified a point mutation in the IRE in the 5-prime noncoding region of the ferritin light chain gene (134790.0001). The synthesis of ferritin, the iron-storing molecule, is regulated at the translational level by iron through interaction between a cytoplasmic protein denoted iron regulatory protein (IRP) or IRE-binding protein (100880; 147582), and a conserved nucleotide motif present in the 5-prime noncoding region of all ferritin mRNAs, the IRE. The IRE region forms a stem-loop structure; when the supply of iron to the cells is limited, IRP binds to IRE and represses ferritin synthesis. Beaumont et al. (1995) noted that this was the first mutation affecting the IRP-IRE interaction and the iron-mediated regulation of ferritin synthesis. They suggested that excess production of ferritin in tissues is responsible for the hyperferritinemia and that intracellular accumulation of ferritin leads to cataract. </p><p>In 3 Australian pedigrees with hereditary hyperferritinemia-cataract syndrome, McLeod et al. (2002) identified mutations in the FTL gene. One of the mutations was the same as that identified by Beaumont et al. (1995); see 134790.0001. </p><p>Camaschella et al. (2000) reported a father and daughter with 'modest' hyperferritinemia and a mutation in the IRE of FTL (51G-C; 134790.0009) who had no history of visual impairment. Upon slit lamp examination, bilateral fine lenticular changes were observed in both subjects. Computational analysis predicted that the 51G-C substitution would alter the conformation of the stem loop without modifying the residues involved in direct contact with IRPs, and functional analysis showed that the mutation reduced, but did not abolish, binding to IRPs. Camaschella et al. (2000) stated that these findings supported a direct relationship between the structural effect of IRE mutations and phenotypic expression of HHCS, and indicated an association between the level of l-ferritin expression and severity of cataract. </p><p>Girelli et al. (2001) studied a total of 62 patients in 14 unrelated families with 9 different mutations in the FTL gene. No relevant symptoms other than visual impairment were found to be associated with the syndrome. Marked phenotypic variability was observed, particularly with regard to ocular involvement; in 16 subjects with the 39C-T mutation in the FTL gene (134790.0007), age at diagnosis for cataract ranged from 6 to 40 years. Similarly, serum ferritin levels varied substantially between subjects sharing the same mutation. One infant lacked cataracts at birth and at age 1 year, suggesting that the cataract is not necessarily congenital. Ferritin content of the lens removed at surgery in 2 family members was about 1,500-fold higher than in controls. The cataract as viewed by slit-lamp was described as a 'pulverulent' cataract in some patients and as a 'sunflower' cataract in others. Girelli et al. (2001) presented a pedigree of an affected 4-generation family with a 29-bp deletion (134790.0005) in the FTL gene that removed most of the IRE. </p><p>In affected members of a family with hyperferritinemia-cataract syndrome, Campagnoli et al. (2002) identified a heterozygous mutation in the FTL gene (134790.0012). Two sisters in the last generation developed cataracts at age 18 months, earlier than most reported cases. The authors suggested that the early onset rules out the possibility that cataracts in this syndrome are due to age-accumulation of ferritin. </p><p>In a healthy 52-year-old woman who was a control subject in a genetic study of hyperferritinemia-cataract syndrome, Cremonesi et al. (2004) identified a heterozygous mutation in the ATG start codon of the FTL gene, predicted to disable protein translation and expression. She had no history of iron deficiency anemia or neurologic dysfunction. Hematologic examination was normal except for decreased serum ferritin. The findings suggested that L-ferritin has no effect on systemic iron metabolism and also indicated that neuroferritinopathy is not a consequence of haploinsufficiency of L-ferritin, but likely results from gain-of-function mutations in the FTL gene. </p><p>Kannengiesser et al. (2009) analyzed the FTL gene in 91 probands with hyperferritinemia, including 25 familial cases and 66 isolated cases. Some patients were referred for early-onset cataract, but none had an IRE mutation in FTL exon 1; however, heterozygosity for a missense mutation in the N terminus (T30I; 134790.0017) was identified in 12 familial and 5 isolated probands, 1 of whom had bilateral cataract. The mutation segregated with disease in the 10 families that underwent cosegregation analysis. There were significant fluctuations in serum ferritin levels, both over time in a given individual and between affected individuals within the same family. No characteristic clinical symptoms were found in the 37 mutation-positive individuals, although 4 complained of joint pain and 3 of asthenia. Serum ferritin hyperglycosylation ranging from 90 to 99% (normal range, 50 to 80%) was observed in 9 mutation-positive individuals tested. </p>
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<p>In 7 kindreds from the United Kingdom with hyperferritinemia-cataract syndrome containing 49 individuals with premature cataract, Lachlan et al. (2004) found that the severity of the clinical phenotype was variable both within and between kindreds and showed no clear relationship with FTL genotype, confirming the findings reported by Girelli et al. (2001) in a European case series. </p>
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<strong>REFERENCES</strong>
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</div>
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<p class="mim-text-font">
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Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., Bonneau, D.
|
|
<strong>Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.</strong>
|
|
Nature Genet. 11: 444-446, 1995.
|
|
|
|
|
|
[PubMed: 7493028]
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|
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[Full Text: https://doi.org/10.1038/ng1295-444]
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</li>
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Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati, P., Berthier, M., Oriot, D., Beaumont, C.
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<strong>Bilateral cataract and high serum ferritin: a new dominant genetic disorder?</strong>
|
|
J. Med. Genet. 32: 778-779, 1995.
|
|
|
|
|
|
[PubMed: 8558554]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.10.778]
|
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</li>
|
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|
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Camaschella, C., Zecchina, G., Lockitch, G., Roetto, A., Campanella, A., Arosio, P., Levi, S.
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<strong>A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.</strong>
|
|
Brit. J. Haemat. 108: 480-482, 2000.
|
|
|
|
|
|
[PubMed: 10759702]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2141.2000.01920.x]
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Campagnoli, M. F., Pimazzoni, R., Bosio, S., Zecchina, G., DeGobbi, M., Bosso, P., Oldani, B., Ramenghi, U.
|
|
<strong>Onset of cataract in early infancy associated with a 32G-C transition in the iron responsive element of L-ferritin.</strong>
|
|
Europ. J. Pediat. 161: 499-502, 2002.
|
|
|
|
|
|
[PubMed: 12200611]
|
|
|
|
|
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[Full Text: https://doi.org/10.1007/s00431-002-1019-4]
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Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P.
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<strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong>
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J. Med. Genet. 41: e81, 2004. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 15173247]
|
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|
|
|
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[Full Text: https://doi.org/10.1136/jmg.2003.011718]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Giansily-Blaizot, M., Cunat, S., Moulis, G., Schved, J.-F., Aguilar-Martinez, P.
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<strong>Homozygous mutation of the 5-prime UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype. (Letter)</strong>
|
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Haematologica 98: e42, 2013. Note: Electronic Article.
|
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[PubMed: 23300176]
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|
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[Full Text: https://doi.org/10.3324/haematol.2012.077198]
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Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., Corrocher, R.
|
|
<strong>Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.</strong>
|
|
Brit. J. Haemat. 115: 334-340, 2001.
|
|
|
|
|
|
[PubMed: 11703332]
|
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|
|
|
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[Full Text: https://doi.org/10.1046/j.1365-2141.2001.03116.x]
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</p>
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</li>
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Girelli, D., Olivieri, O., De Franceschi, L., Corrocher, R., Bergamaschi, G., Cazzola, M.
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<strong>A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.</strong>
|
|
Brit. J. Haemat. 90: 931-934, 1995.
|
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[PubMed: 7669675]
|
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|
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|
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[Full Text: https://doi.org/10.1111/j.1365-2141.1995.tb05218.x]
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</li>
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Kannengiesser, C., Jouanolle, A.-M., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou-Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., Grandchamp, B., Beaumont, C.
|
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<strong>A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of serum overload.</strong>
|
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Haematologica 94: 335-339, 2009.
|
|
|
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[PubMed: 19176363]
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|
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|
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[Full Text: https://doi.org/10.3324/haematol.2008.000125]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lachlan, K. L., Temple, I. K., Mumford, A. D.
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<strong>Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.</strong>
|
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Europ. J. Hum. Genet. 12: 790-796, 2004.
|
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|
|
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[PubMed: 15280904]
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|
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201252]
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</p>
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Luscieti, S., Tolle, G., Aranda, J., Campos, C. B., Risse, F., Moran, E., Muckenthaler, M. U., Sanchez, M.
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<strong>Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.</strong>
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Orphanet J. Rare Dis. 8: 30, 2013. Note: Electronic Article.
|
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[PubMed: 23421845]
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[Full Text: https://doi.org/10.1186/1750-1172-8-30]
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McLeod, J. L., Craig, J., Gumley, S., Roberts, S., Kirkland, M. A.
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<strong>Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.</strong>
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Brit. J. Haemat. 118: 1179-1182, 2002.
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[PubMed: 12199804]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2002.03690.x]
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