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<title>
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Entry
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- #105120 - AMYLOIDOSIS, FINNISH TYPE
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- OMIM
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<span class="h4">#105120</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS105210"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<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://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11721&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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85448" 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/b563868f-7416-4f50-859c-6dcf48b6bda1/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><a href="https://www.alliancegenome.org/disease/DOID:0050637" 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/105120" 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:0050637" 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 class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 85448<br />
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<strong>DO:</strong> 0050637<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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105120
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</span>
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</span>
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</div>
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<div>
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<h3>
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AMYLOIDOSIS, FINNISH TYPE
|
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|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, FINNISH TYPE; AMYLD4<br />
|
|
AMYLOIDOSIS V<br />
|
|
AMYLOIDOSIS, MERETOJA TYPE<br />
|
|
AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY<br />
|
|
AMYLOIDOSIS DUE TO MUTANT GELSOLIN
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
|
</div>
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|
|
|
|
|
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|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/466?start=-3&limit=10&highlight=466">
|
|
9q33.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Amyloidosis, Finnish type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105120"> 105120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GSN
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137350"> 137350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/105120" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS105210" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/105120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/105120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lattice corneal dystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/361199007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">361199007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H18.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H18.54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155127</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001149</a>]</span><br /> -
|
|
Dermatochalasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246815009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246815009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.87" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.87</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423124</a>, <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010750</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010750</a>]</span><br /> -
|
|
Dry eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162290004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162290004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46152009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46152009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302896008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302896008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H04.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H04.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022575</a>, <a href="https://bioportal.bioontology.org/search?q=C0013238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013238</a>, <a href="https://bioportal.bioontology.org/search?q=C0314719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0314719</a>, <a href="https://bioportal.bioontology.org/search?q=C0720056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720056</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Amyloid cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16573007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16573007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268407&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268407</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030843</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030843</a>]</span><br /> -
|
|
Cardiac arrhythmias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nephrotic syndrome (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
|
|
Renal failure (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
</div>
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|
|
|
</div>
|
|
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|
|
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|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cutis laxa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span><br /> -
|
|
Eczema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43116000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43116000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L30.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L30.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013595</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cranial neuropathy (facial paresis) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883274</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73013002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73013002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G52.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G52.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/352.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">352.9</a>]</span><br /> -
|
|
Bulbar palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54304004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54304004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G12.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G12.22</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/335.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">335.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082299</a>, <a href="https://bioportal.bioontology.org/search?q=C0030442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001283</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001283</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral polyneuropathy (vibration and touch loss) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883275</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypothyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40930008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40930008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E03.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/244.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">244.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Generalized amyloid deposition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862968&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862968</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003216</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in third decade<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the gelsolin gene (GSN, <a href="/entry/137350#0001">137350.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Amyloidosis, hereditary systemic
|
|
- <a href="/phenotypicSeries/PS105210">PS105210</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/619?start=-3&limit=10&highlight=619"> 4q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105200"> Amyloidosis, hereditary systemic 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105200"> 105200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134820"> FGA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134820"> 134820 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/466?start=-3&limit=10&highlight=466"> 9q33.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105120"> Amyloidosis, Finnish type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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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<p>A number sign (#) is used with this entry because of evidence that the Finnish type of amyloidosis is caused by heterozygous or homozygous mutation in the gelsolin gene (GSN; <a href="/entry/137350">137350</a>) on chromosome 9q33.</p>
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<p>The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (<a href="#15" class="mim-tip-reference" title="Meretoja, J. <strong>Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.</strong> Clin. Genet. 4: 173-185, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4543600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4543600</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1973.tb01140.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4543600">Meretoja, 1973</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4543600" 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>Finnish hereditary amyloidosis, also known as Meretoja syndrome or AGel amyloidosis, is one of the most common diseases in the Finnish disease heritage. Symptoms commonly appear by age 40, with the first finding usually corneal lattice dystrophy (CLD), diagnosed by an ophthalmologist. Impaired vision, polyneuropathy, facial nerve paresis, and cutis laxa follow. These symptoms may develop slowly and simultaneously, since amyloid accumulates systemically at a constant rate (summary by <a href="#18" class="mim-tip-reference" title="Nikoskinen, T., Schmidt, E.-K., Strbian, D., Kiuru-Enari, S., Atula, S. <strong>Natural course of Finnish gelsolin amyloidosis.</strong> Ann. Med. 47: 506-511, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26339870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26339870</a>] [<a href="https://doi.org/10.3109/07853890.2015.1075063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26339870">Nikoskinen et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26339870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (<a href="/entry/105210">105210</a>).</p>
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<p>In a massive investigation in Finland, <a href="#15" class="mim-tip-reference" title="Meretoja, J. <strong>Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.</strong> Clin. Genet. 4: 173-185, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4543600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4543600</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1973.tb01140.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4543600">Meretoja (1973)</a> identified 207 affected persons. Two patients, whose parents were affected and who were more severely affected than the others, were thought to represent homozygosity. A few of the patients developed nephrotic syndrome and renal failure and some had cardiac involvement. Amyloid involvement was rather widespread at autopsy. <a href="#14" class="mim-tip-reference" title="Meretoja, J., Hollmen, T., Meretoja, T., Penttinen, R. <strong>Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.</strong> Med. Biol. 56: 17-22, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/305513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">305513</a>]" pmid="305513">Meretoja et al. (1978)</a> collected 307 patients in Finland. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=305513+4543600" 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="#10" class="mim-tip-reference" title="Klintworth, G. K. <strong>Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea.</strong> Am. J. Path. 50: 371-399, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163628</a>]" pmid="4163628">Klintworth (1967)</a> presented evidence that corneal dystrophy of the lattice type is a local variety of amyloidosis. Lattice corneal dystrophy accompanied systemic amyloidosis of the Finnish type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163628" 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>Three Czechoslovakian sisters with bulbar palsy, 'cutis hyperelastica,' and lattice dystrophy of the cornea, reported by <a href="#9" class="mim-tip-reference" title="Klaus, E., Freyberger, E., Kavka, G., Vodicka, F. <strong>Familial occurrence of a bulbar paralytic form of amyotrophic lateral sclerosis with reticular corneal dystrophy and cutis hyperelastica in 3 sisters.</strong> Psychiat. Neurol. (Basel) 138: 79-97, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14409602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14409602</a>]" pmid="14409602">Klaus et al. (1959)</a>, may have had this disorder. Cases were reported from the United States by <a href="#22" class="mim-tip-reference" title="Sack, G. H., Jr., Dumars, K. W., Gummerson, K. S., Law, A., McKusick, V. A. <strong>Three forms of dominant amyloid neuropathy.</strong> Johns Hopkins Med. J. 149: 239-247, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6975851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6975851</a>]" pmid="6975851">Sack et al. (1981)</a>, <a href="#21" class="mim-tip-reference" title="Purcell, J. J., Jr., Rodrigues, M., Chishti, M. I., Riner, R. N., Dooley, J. M. <strong>Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).</strong> Ophthalmology 90: 1512-1517, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6610849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6610849</a>] [<a href="https://doi.org/10.1016/s0161-6420(83)34369-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6610849">Purcell et al. (1983)</a>, <a href="#3" class="mim-tip-reference" title="Darras, B. T., Adelman, L. S., Mora, J. S., Rodziner, R. A., Munsat, T. L. <strong>Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.</strong> Neurology 36: 432-435, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3513049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3513049</a>] [<a href="https://doi.org/10.1212/wnl.36.3.432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3513049">Darras et al. (1986)</a>, and <a href="#25" class="mim-tip-reference" title="Starck, T., Kenyon, K. R., Hanninen, L. A., Beyer-Machule, C., Fabian, R., Gorn, R. A., McMullan, F. D., Baum, J., McAdam, K. P. W. J. <strong>Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome).</strong> Ophthalmology 98: 1197-1206, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1923356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1923356</a>] [<a href="https://doi.org/10.1016/s0161-6420(91)32153-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1923356">Starck et al. (1991)</a>; from Holland by <a href="#26" class="mim-tip-reference" title="Winkelman, J. E., Delleman, J. W., Ansink, B. J. J. <strong>Ein hereditaeres Syndrom, bestehend aus peripherer Polyneuropathie, Hautveraenderungen und gittriger Dystrophie der Hornhaut.</strong> Klin. Monatsbl. Augenheilkd. 159: 618-623, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109360</a>]" pmid="4109360">Winkelman et al. (1971)</a>; and from Denmark by <a href="#2" class="mim-tip-reference" title="Boysen, G., Galassi, G., Kamieniecka, Z., Schlaeger, J., Trojaborg, W. <strong>Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.</strong> J. Neurol. Neurosurg. Psychiat. 42: 1020-1030, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/228009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">228009</a>] [<a href="https://doi.org/10.1136/jnnp.42.11.1020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="228009">Boysen et al. (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6610849+3513049+6975851+14409602+4109360+1923356+228009" 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>One of the patients reported by <a href="#22" class="mim-tip-reference" title="Sack, G. H., Jr., Dumars, K. W., Gummerson, K. S., Law, A., McKusick, V. A. <strong>Three forms of dominant amyloid neuropathy.</strong> Johns Hopkins Med. J. 149: 239-247, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6975851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6975851</a>]" pmid="6975851">Sack et al. (1981)</a> had onset of facial paralysis, which began as inability to control a drooping lower lip, at the age of about 56; the lip became strikingly protuberant and everted with exposure of the lower gingival mucosa. Five years after onset he could not wrinkle his forehead and there was an intermittent twitch of the right side of the lower lip. The extraocular muscles were affected only minimally and there was no ptosis. A striking feature was laxity of the skin, which raised the question of cutis laxa. Slit-lamp examination showed a lattice type of corneal opacity bilaterally. The mother had the identical disorder beginning at about the same stage of life. The proband had bulbar manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6975851" 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="#8" class="mim-tip-reference" title="Kiuru, S. <strong>Familial amyloidosis of the Finnish type (FAF): a clinical study of 30 patients.</strong> Acta Neurol. Scand. 86: 346-353, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333716</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1992.tb05099.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1333716">Kiuru (1992)</a> reported the clinical findings of 30 patients. Signs of cranial neuropathy especially affecting the facial nerve were found in all, and peripheral polyneuropathy mainly affecting vibration and touch senses was demonstrated in 26 patients. <a href="#7" class="mim-tip-reference" title="Kiuru, S., Matikainen, E., Kupari, M., Haltia, M., Palo, J. <strong>Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).</strong> J. Neurol. Sci. 126: 40-48, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7836945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7836945</a>] [<a href="https://doi.org/10.1016/0022-510x(94)90092-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7836945">Kiuru et al. (1994)</a> studied the autonomic nervous system and heart in 30 patients. Minor autonomic nervous system dysfunction was found in most patients, but clinically significant autonomic dysfunction or cardiopathy was not characteristic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7836945+1333716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Akiya, S., Nishio, Y., Ibi, K., Uozumi, H., Takahashi, H., Hamada, T., Onishi, A., Ishiguchi, H., Hoshii, Y., Nakazato, M. <strong>Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.</strong> Ophthalmology 103: 1106-1110, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8684801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8684801</a>] [<a href="https://doi.org/10.1016/s0161-6420(96)30560-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8684801">Akiya et al. (1996)</a> reported a Japanese brother and half sister with lattice corneal dystrophy as part of Finnish-type amyloidosis. The authors referred to the Finnish type as FAP type IV. The patients were 70 and 68 years old. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8684801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Potrc, M., Volk, M., de Rosa, M., Pizem, J., Teran, N., Jaklic, H., Maver, A., Drnovsek-Olup, B., Bollati, M., Vogelnik, K., Hocevar, A., Gornik, A., Pfeifer, V., Peterlin, B., Hawlina, M., Fakin, A. <strong>Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys.</strong> Int. J. Molec. Sci. 22: 1084, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33499149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33499149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33499149[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/10.3390/ijms22031084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33499149">Potrc et al. (2021)</a> reported 6 members of a family with Finnish-type amyloidosis. Family members had corneal dystrophy (5/6), loose skin (5/6), and cardiac arrhythmia requiring treatment with an implantable cardioverter defibrillator (3/6). One patient had bilateral optic neuropathy, which may be related to the disease and is critical to recognize before corneal transplantation. Histopathologic analysis of the eyelid skin showed atrophic epidermis and dermis and amyloid deposits around hair follicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33499149" 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="#17" class="mim-tip-reference" title="Mullany, S., Souzeau, E., Klebe, S., Zhou, T., Knight, L. S. W., Qassim, A., Berry, E. C., Marshall, H., Hussey, M., Dubowsky, A., Breen, J., Hassall, M. M., Mills, R. A., Craig, J. E., Siggs, O. M. <strong>A novel GSN variant outside the G2 calcium-binding domain associated with amyloidosis of the Finnish type.</strong> Hum. Mutat. 42: 818-826, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33973672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33973672</a>] [<a href="https://doi.org/10.1002/humu.24214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33973672">Mullany et al. (2021)</a> reported 2 unrelated families with Finnish-type amyloidosis, one with an affected female without a family history of the disease and the other with affected father, son, and daughter. All 4 patients had polymorphic corneal stromal opacities, dermatochalasis requiring upper eyelid blepharoplasty, and dry eyes. The father and son had open-angle glaucoma. Systemic features included cutis laxa in all 4 patients, proteinuria in the daughter, cardiac findings in the father (sinus bradycardia) and the daughter (supraventricular tachycardia and idiopathic cardiomyopathy), and hypothyroidism in the son and daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33973672" 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 the Finnish type of amyloidosis in the family reported by <a href="#11" class="mim-tip-reference" title="Maury, C. P. J., Alli, K., Baumann, M. <strong>Finnish hereditary amyloidosis: amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.</strong> FEBS Lett. 260: 85-87, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153578</a>] [<a href="https://doi.org/10.1016/0014-5793(90)80072-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153578">Maury et al. (1990)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2153578" 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 type of corneal lattice dystrophy (CLD) that occurs as a feature of Finnish amyloidosis has been referred to as corneal lattice dystrophy type II (CLD2) or lattice corneal dystrophy type II (LCD2).</p><p><a href="#1" class="mim-tip-reference" title="Akiya, S., Nishio, Y., Ibi, K., Uozumi, H., Takahashi, H., Hamada, T., Onishi, A., Ishiguchi, H., Hoshii, Y., Nakazato, M. <strong>Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.</strong> Ophthalmology 103: 1106-1110, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8684801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8684801</a>] [<a href="https://doi.org/10.1016/s0161-6420(96)30560-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8684801">Akiya et al. (1996)</a> stated that lattice corneal dystrophy type II (LCD2) is a characteristic finding of Finnish amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8684801" 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="#18" class="mim-tip-reference" title="Nikoskinen, T., Schmidt, E.-K., Strbian, D., Kiuru-Enari, S., Atula, S. <strong>Natural course of Finnish gelsolin amyloidosis.</strong> Ann. Med. 47: 506-511, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26339870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26339870</a>] [<a href="https://doi.org/10.3109/07853890.2015.1075063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26339870">Nikoskinen et al. (2015)</a> noted that corneal lattice dystrophy (CLD2) is usually the first symptom of Finnish amyloidosis to appear, is 'practically prerequisite,' and with positive family history is sufficient for diagnosis of Finnish amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26339870" 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="#23" class="mim-tip-reference" title="Schmidt, E.-K., Mustonen, T., Kiuru-Enari, S., Kivela, T. T., Atula, S. <strong>Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.</strong> Orphanet J. Rare Dis. 15: 19, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31952544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31952544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31952544[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/s13023-020-1300-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31952544">Schmidt et al. (2020)</a> stated that corneal lattice amyloidosis had been incorrectly referred to as lattice corneal dystrophy type II and is the first ophthalmologic sign to appear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31952544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Maury, C. P. J., Alli, K., Baumann, M. <strong>Finnish hereditary amyloidosis: amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.</strong> FEBS Lett. 260: 85-87, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153578</a>] [<a href="https://doi.org/10.1016/0014-5793(90)80072-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153578">Maury et al. (1990)</a> studied amyloid fibrils isolated from the kidney of a patient with the Finnish form. The amino acid sequence determined for part of the protein was identical to that deduced for plasma gelsolin in the region of amino acids 235-269. Using PCR and allele-specific oligonucleotide hybridization analysis of genomic DNA in patients with this disorder, <a href="#12" class="mim-tip-reference" title="Maury, C. P. J., Kere, J., Tolvanen, R., de la Chapelle, A. <strong>Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.</strong> FEBS Lett. 276: 75-77, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2176164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2176164</a>] [<a href="https://doi.org/10.1016/0014-5793(90)80510-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2176164">Maury et al. (1990)</a> identified a 654G-A transition in the GSN gene, resulting in an asp187-to-asn substitution (D187N; <a href="/entry/137350#0001">137350.0001</a>), in all 5 unrelated patients studied, but not in 45 unrelated control subjects. In a family study, the mutant gene was demonstrated in all members with clinical symptoms of the disease, as well as in 1 asymptomatic family member who was thought to represent a presymptomatic gene carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2176164+2153578" 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="#5" class="mim-tip-reference" title="Haltia, M., Ghiso, J., Prelli, F., Gallo, G., Kiuru, S., Somer, H., Palo, J., Frangione, G. <strong>Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.</strong> Am. J. Path. 136: 1223-1228, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2162627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2162627</a>]" pmid="2162627">Haltia et al. (1990)</a> likewise showed that the amyloid in this disorder is antigenically and structurally related to gelsolin. The same mutation in gelsolin (asp187-to-asn) has been found in all Finnish families studied to date (<a href="#12" class="mim-tip-reference" title="Maury, C. P. J., Kere, J., Tolvanen, R., de la Chapelle, A. <strong>Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.</strong> FEBS Lett. 276: 75-77, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2176164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2176164</a>] [<a href="https://doi.org/10.1016/0014-5793(90)80510-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2176164">Maury et al., 1990</a>; <a href="#19" class="mim-tip-reference" title="Paunio, T., Kiuru, S., Hongell, V., Mustonen, E., Syvanen, A.-C., Bengtstrom, M., Palo, J., Peltonen, L. <strong>Solid-phase minisequencing test reveals asp187-to-asn (G654-to-A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.</strong> Genomics 13: 237-239, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315718</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90235-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315718">Paunio et al., 1992</a>; <a href="#4" class="mim-tip-reference" title="de la Chapelle, A., Kere, J., Sack, G. H., Jr., Tolvanen, R., Maury, C. P. J. <strong>Familial amyloidosis, Finnish type: G654-to-A mutation of the gelsolin gene in Finnish families and an unrelated American family.</strong> Genomics 13: 898-901, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1322359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1322359</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90182-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1322359">de la Chapelle et al., 1992</a>; <a href="#6" class="mim-tip-reference" title="Haltia, M., Levy, E., Meretoja, J., Fernandez-Madrid, I., Koivunen, O., Frangione, B. <strong>Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.</strong> Am. J. Med. Genet. 42: 357-359, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1311149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1311149</a>] [<a href="https://doi.org/10.1002/ajmg.1320420321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1311149">Haltia et al., 1992</a>; <a href="#24" class="mim-tip-reference" title="Sipila, K., Aula, P. <strong>Database for the mutations of the Finnish disease heritage.</strong> Hum. Mutat. 19: 16-22, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754099</a>] [<a href="https://doi.org/10.1002/humu.10019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754099">Sipila and Aula, 2002</a>); furthermore, it was also found in the affected son of the proband of the Scottish-American family reported by <a href="#22" class="mim-tip-reference" title="Sack, G. H., Jr., Dumars, K. W., Gummerson, K. S., Law, A., McKusick, V. A. <strong>Three forms of dominant amyloid neuropathy.</strong> Johns Hopkins Med. J. 149: 239-247, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6975851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6975851</a>]" pmid="6975851">Sack et al. (1981)</a>; see <a href="#4" class="mim-tip-reference" title="de la Chapelle, A., Kere, J., Sack, G. H., Jr., Tolvanen, R., Maury, C. P. J. <strong>Familial amyloidosis, Finnish type: G654-to-A mutation of the gelsolin gene in Finnish families and an unrelated American family.</strong> Genomics 13: 898-901, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1322359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1322359</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90182-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1322359">de la Chapelle et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2176164+1315718+6975851+1322359+1311149+11754099+2162627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Maury, C. P. J. <strong>Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.</strong> Clin. Nephrol. 40: 53-56, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395367</a>]" pmid="8395367">Maury (1993)</a> reported the findings in 2 sisters who were homozygous for the D187N mutation in gelsolin. In both, the disease was unusually severe, manifesting with nephrotic syndrome and end-stage renal failure. Immunohistochemical studies of the kidneys demonstrated heavy glomerular deposits of gelsolin-derived amyloid. Immunostaining also demonstrated gelsolin in the tubular epithelium, where it was Congo-red negative. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395367" 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 6 members of a family with Finnish-type amyloidosis, <a href="#20" class="mim-tip-reference" title="Potrc, M., Volk, M., de Rosa, M., Pizem, J., Teran, N., Jaklic, H., Maver, A., Drnovsek-Olup, B., Bollati, M., Vogelnik, K., Hocevar, A., Gornik, A., Pfeifer, V., Peterlin, B., Hawlina, M., Fakin, A. <strong>Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys.</strong> Int. J. Molec. Sci. 22: 1084, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33499149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33499149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33499149[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/10.3390/ijms22031084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33499149">Potrc et al. (2021)</a> identified a heterozygous missense mutation in the GSN gene (E580K; <a href="/entry/137350#0003">137350.0003</a>). The mutation, which was found by exome sequencing, segregated with disease in the family and was not present in the gnomAD database. The affected residue was located in the G5 domain, which is homologous to the second domain, which contains D187N (<a href="/entry/137350#0001">137350.0001</a>), the most common pathogenic variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33499149" 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 2 unrelated families segregating Finnish-type amyloidosis, one with a single affected person and the other with 3 first-degree relatives, <a href="#17" class="mim-tip-reference" title="Mullany, S., Souzeau, E., Klebe, S., Zhou, T., Knight, L. S. W., Qassim, A., Berry, E. C., Marshall, H., Hussey, M., Dubowsky, A., Breen, J., Hassall, M. M., Mills, R. A., Craig, J. E., Siggs, O. M. <strong>A novel GSN variant outside the G2 calcium-binding domain associated with amyloidosis of the Finnish type.</strong> Hum. Mutat. 42: 818-826, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33973672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33973672</a>] [<a href="https://doi.org/10.1002/humu.24214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33973672">Mullany et al. (2021)</a> identified heterozygous mutations in the GSN gene. In the single affected person, the classic D187N mutation (also referred to as D214N) was identified. In the 3 affected family members (father, son, and daughter), a trp493-to-arg (W493R; <a href="/entry/137350#0004">137350.0004</a>) mutation was identified. The W493R variant was the first to be located in the G4 domain. Immunohistochemical studies on corneal tissue from the proband in the family with the W493R variant identified gelsolin protein within histologically defined corneal amyloid deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33973672" 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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<a href="#Meretoja1973" class="mim-tip-reference" title="Meretoja, J. <strong>Inherited Systemic Amyloidosis with Lattice Corneal Dystrophy.</strong> Acad. Dissertation: Helsinki (pub.) 1973.">Meretoja (1973)</a>
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[<a href="https://doi.org/10.1016/s0161-6420(96)30560-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.42.11.1020" target="_blank">Full Text</a>]
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Darras, B. T., Adelman, L. S., Mora, J. S., Rodziner, R. A., Munsat, T. L.
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<strong>Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.</strong>
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Neurology 36: 432-435, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3513049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3513049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3513049" 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/10.1212/wnl.36.3.432" target="_blank">Full Text</a>]
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de la Chapelle, A., Kere, J., Sack, G. H., Jr., Tolvanen, R., Maury, C. P. J.
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<strong>Familial amyloidosis, Finnish type: G654-to-A mutation of the gelsolin gene in Finnish families and an unrelated American family.</strong>
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Genomics 13: 898-901, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1322359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1322359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1322359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Haltia, M., Ghiso, J., Prelli, F., Gallo, G., Kiuru, S., Somer, H., Palo, J., Frangione, G.
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<strong>Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.</strong>
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Am. J. Path. 136: 1223-1228, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2162627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2162627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2162627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Haltia, M., Levy, E., Meretoja, J., Fernandez-Madrid, I., Koivunen, O., Frangione, B.
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<strong>Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1311149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1311149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1311149" 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/10.1002/ajmg.1320420321" target="_blank">Full Text</a>]
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Kiuru, S., Matikainen, E., Kupari, M., Haltia, M., Palo, J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7836945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7836945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7836945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(94)90092-2" target="_blank">Full Text</a>]
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Kiuru, S.
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<strong>Familial amyloidosis of the Finnish type (FAF): a clinical study of 30 patients.</strong>
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Acta Neurol. Scand. 86: 346-353, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1333716" 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.1600-0404.1992.tb05099.x" target="_blank">Full Text</a>]
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Klaus, E., Freyberger, E., Kavka, G., Vodicka, F.
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<strong>Familial occurrence of a bulbar paralytic form of amyotrophic lateral sclerosis with reticular corneal dystrophy and cutis hyperelastica in 3 sisters.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14409602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14409602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14409602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Klintworth, G. K.
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<strong>Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea.</strong>
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Am. J. Path. 50: 371-399, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Maury1990" class="mim-anchor"></a>
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Maury, C. P. J., Alli, K., Baumann, M.
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<strong>Finnish hereditary amyloidosis: amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.</strong>
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FEBS Lett. 260: 85-87, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2153578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(90)80072-q" target="_blank">Full Text</a>]
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Maury, C. P. J., Kere, J., Tolvanen, R., de la Chapelle, A.
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<strong>Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.</strong>
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FEBS Lett. 276: 75-77, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2176164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2176164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2176164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(90)80510-p" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1973.tb01140.x" target="_blank">Full Text</a>]
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Mullany, S., Souzeau, E., Klebe, S., Zhou, T., Knight, L. S. W., Qassim, A., Berry, E. C., Marshall, H., Hussey, M., Dubowsky, A., Breen, J., Hassall, M. M., Mills, R. A., Craig, J. E., Siggs, O. M.
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[<a href="https://doi.org/10.1002/humu.24214" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/07853890.2015.1075063" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1315718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90235-k" target="_blank">Full Text</a>]
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Potrc, M., Volk, M., de Rosa, M., Pizem, J., Teran, N., Jaklic, H., Maver, A., Drnovsek-Olup, B., Bollati, M., Vogelnik, K., Hocevar, A., Gornik, A., Pfeifer, V., Peterlin, B., Hawlina, M., Fakin, A.
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<strong>Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33499149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33499149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33499149[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=33499149" 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/10.3390/ijms22031084" target="_blank">Full Text</a>]
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Purcell, J. J., Jr., Rodrigues, M., Chishti, M. I., Riner, R. N., Dooley, J. M.
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<strong>Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).</strong>
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[<a href="https://doi.org/10.1016/s0161-6420(83)34369-4" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31952544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31952544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31952544[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=31952544" 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/s13023-020-1300-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.10019" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1923356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1923356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1923356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0161-6420(91)32153-5" target="_blank">Full Text</a>]
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Winkelman, J. E., Delleman, J. W., Ansink, B. J. J.
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<strong>Ein hereditaeres Syndrom, bestehend aus peripherer Polyneuropathie, Hautveraenderungen und gittriger Dystrophie der Hornhaut.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4109360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4109360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4109360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sonja A. Rasmussen - updated : 08/22/2023
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<span class="mim-font">
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<strong>#</strong> 105120
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<h3>
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AMYLOIDOSIS, FINNISH TYPE
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, FINNISH TYPE; AMYLD4<br />
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AMYLOIDOSIS V<br />
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AMYLOIDOSIS, MERETOJA TYPE<br />
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AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY<br />
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AMYLOIDOSIS DUE TO MUTANT GELSOLIN
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<strong>ORPHA:</strong> 85448;
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<strong>DO:</strong> 0050637;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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9q33.2
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<span class="mim-font">
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Amyloidosis, Finnish type
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<span class="mim-font">
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105120
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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GSN
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<span class="mim-font">
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137350
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that the Finnish type of amyloidosis is caused by heterozygous or homozygous mutation in the gelsolin gene (GSN; 137350) on chromosome 9q33.</p>
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<strong>Description</strong>
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<p>The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). </p><p>Finnish hereditary amyloidosis, also known as Meretoja syndrome or AGel amyloidosis, is one of the most common diseases in the Finnish disease heritage. Symptoms commonly appear by age 40, with the first finding usually corneal lattice dystrophy (CLD), diagnosed by an ophthalmologist. Impaired vision, polyneuropathy, facial nerve paresis, and cutis laxa follow. These symptoms may develop slowly and simultaneously, since amyloid accumulates systemically at a constant rate (summary by Nikoskinen et al., 2015). </p><p>For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</p>
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<strong>Clinical Features</strong>
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<p>In a massive investigation in Finland, Meretoja (1973) identified 207 affected persons. Two patients, whose parents were affected and who were more severely affected than the others, were thought to represent homozygosity. A few of the patients developed nephrotic syndrome and renal failure and some had cardiac involvement. Amyloid involvement was rather widespread at autopsy. Meretoja et al. (1978) collected 307 patients in Finland. </p><p>Klintworth (1967) presented evidence that corneal dystrophy of the lattice type is a local variety of amyloidosis. Lattice corneal dystrophy accompanied systemic amyloidosis of the Finnish type. </p><p>Three Czechoslovakian sisters with bulbar palsy, 'cutis hyperelastica,' and lattice dystrophy of the cornea, reported by Klaus et al. (1959), may have had this disorder. Cases were reported from the United States by Sack et al. (1981), Purcell et al. (1983), Darras et al. (1986), and Starck et al. (1991); from Holland by Winkelman et al. (1971); and from Denmark by Boysen et al. (1979). </p><p>One of the patients reported by Sack et al. (1981) had onset of facial paralysis, which began as inability to control a drooping lower lip, at the age of about 56; the lip became strikingly protuberant and everted with exposure of the lower gingival mucosa. Five years after onset he could not wrinkle his forehead and there was an intermittent twitch of the right side of the lower lip. The extraocular muscles were affected only minimally and there was no ptosis. A striking feature was laxity of the skin, which raised the question of cutis laxa. Slit-lamp examination showed a lattice type of corneal opacity bilaterally. The mother had the identical disorder beginning at about the same stage of life. The proband had bulbar manifestations. </p><p>Kiuru (1992) reported the clinical findings of 30 patients. Signs of cranial neuropathy especially affecting the facial nerve were found in all, and peripheral polyneuropathy mainly affecting vibration and touch senses was demonstrated in 26 patients. Kiuru et al. (1994) studied the autonomic nervous system and heart in 30 patients. Minor autonomic nervous system dysfunction was found in most patients, but clinically significant autonomic dysfunction or cardiopathy was not characteristic. </p><p>Akiya et al. (1996) reported a Japanese brother and half sister with lattice corneal dystrophy as part of Finnish-type amyloidosis. The authors referred to the Finnish type as FAP type IV. The patients were 70 and 68 years old. </p><p>Potrc et al. (2021) reported 6 members of a family with Finnish-type amyloidosis. Family members had corneal dystrophy (5/6), loose skin (5/6), and cardiac arrhythmia requiring treatment with an implantable cardioverter defibrillator (3/6). One patient had bilateral optic neuropathy, which may be related to the disease and is critical to recognize before corneal transplantation. Histopathologic analysis of the eyelid skin showed atrophic epidermis and dermis and amyloid deposits around hair follicles. </p><p>Mullany et al. (2021) reported 2 unrelated families with Finnish-type amyloidosis, one with an affected female without a family history of the disease and the other with affected father, son, and daughter. All 4 patients had polymorphic corneal stromal opacities, dermatochalasis requiring upper eyelid blepharoplasty, and dry eyes. The father and son had open-angle glaucoma. Systemic features included cutis laxa in all 4 patients, proteinuria in the daughter, cardiac findings in the father (sinus bradycardia) and the daughter (supraventricular tachycardia and idiopathic cardiomyopathy), and hypothyroidism in the son and daughter. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<p>The transmission pattern of the Finnish type of amyloidosis in the family reported by Maury et al. (1990) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</h4>
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<span class="mim-text-font">
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<p>The type of corneal lattice dystrophy (CLD) that occurs as a feature of Finnish amyloidosis has been referred to as corneal lattice dystrophy type II (CLD2) or lattice corneal dystrophy type II (LCD2).</p><p>Akiya et al. (1996) stated that lattice corneal dystrophy type II (LCD2) is a characteristic finding of Finnish amyloidosis. </p><p>Nikoskinen et al. (2015) noted that corneal lattice dystrophy (CLD2) is usually the first symptom of Finnish amyloidosis to appear, is 'practically prerequisite,' and with positive family history is sufficient for diagnosis of Finnish amyloidosis. </p><p>Schmidt et al. (2020) stated that corneal lattice amyloidosis had been incorrectly referred to as lattice corneal dystrophy type II and is the first ophthalmologic sign to appear. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Maury et al. (1990) studied amyloid fibrils isolated from the kidney of a patient with the Finnish form. The amino acid sequence determined for part of the protein was identical to that deduced for plasma gelsolin in the region of amino acids 235-269. Using PCR and allele-specific oligonucleotide hybridization analysis of genomic DNA in patients with this disorder, Maury et al. (1990) identified a 654G-A transition in the GSN gene, resulting in an asp187-to-asn substitution (D187N; 137350.0001), in all 5 unrelated patients studied, but not in 45 unrelated control subjects. In a family study, the mutant gene was demonstrated in all members with clinical symptoms of the disease, as well as in 1 asymptomatic family member who was thought to represent a presymptomatic gene carrier. </p><p>Haltia et al. (1990) likewise showed that the amyloid in this disorder is antigenically and structurally related to gelsolin. The same mutation in gelsolin (asp187-to-asn) has been found in all Finnish families studied to date (Maury et al., 1990; Paunio et al., 1992; de la Chapelle et al., 1992; Haltia et al., 1992; Sipila and Aula, 2002); furthermore, it was also found in the affected son of the proband of the Scottish-American family reported by Sack et al. (1981); see de la Chapelle et al. (1992). </p><p>Maury (1993) reported the findings in 2 sisters who were homozygous for the D187N mutation in gelsolin. In both, the disease was unusually severe, manifesting with nephrotic syndrome and end-stage renal failure. Immunohistochemical studies of the kidneys demonstrated heavy glomerular deposits of gelsolin-derived amyloid. Immunostaining also demonstrated gelsolin in the tubular epithelium, where it was Congo-red negative. </p><p>In 6 members of a family with Finnish-type amyloidosis, Potrc et al. (2021) identified a heterozygous missense mutation in the GSN gene (E580K; 137350.0003). The mutation, which was found by exome sequencing, segregated with disease in the family and was not present in the gnomAD database. The affected residue was located in the G5 domain, which is homologous to the second domain, which contains D187N (137350.0001), the most common pathogenic variant. </p><p>In 2 unrelated families segregating Finnish-type amyloidosis, one with a single affected person and the other with 3 first-degree relatives, Mullany et al. (2021) identified heterozygous mutations in the GSN gene. In the single affected person, the classic D187N mutation (also referred to as D214N) was identified. In the 3 affected family members (father, son, and daughter), a trp493-to-arg (W493R; 137350.0004) mutation was identified. The W493R variant was the first to be located in the G4 domain. Immunohistochemical studies on corneal tissue from the proband in the family with the W493R variant identified gelsolin protein within histologically defined corneal amyloid deposits. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Meretoja (1973)
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akiya, S., Nishio, Y., Ibi, K., Uozumi, H., Takahashi, H., Hamada, T., Onishi, A., Ishiguchi, H., Hoshii, Y., Nakazato, M.
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<strong>Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.</strong>
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Ophthalmology 103: 1106-1110, 1996.
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[PubMed: 8684801]
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[Full Text: https://doi.org/10.1016/s0161-6420(96)30560-5]
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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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Boysen, G., Galassi, G., Kamieniecka, Z., Schlaeger, J., Trojaborg, W.
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<strong>Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.</strong>
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J. Neurol. Neurosurg. Psychiat. 42: 1020-1030, 1979.
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[PubMed: 228009]
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[Full Text: https://doi.org/10.1136/jnnp.42.11.1020]
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</li>
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<li>
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<p class="mim-text-font">
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Darras, B. T., Adelman, L. S., Mora, J. S., Rodziner, R. A., Munsat, T. L.
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<strong>Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.</strong>
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Neurology 36: 432-435, 1986.
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[PubMed: 3513049]
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[Full Text: https://doi.org/10.1212/wnl.36.3.432]
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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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de la Chapelle, A., Kere, J., Sack, G. H., Jr., Tolvanen, R., Maury, C. P. J.
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<strong>Familial amyloidosis, Finnish type: G654-to-A mutation of the gelsolin gene in Finnish families and an unrelated American family.</strong>
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Genomics 13: 898-901, 1992.
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[PubMed: 1322359]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90182-r]
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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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Haltia, M., Ghiso, J., Prelli, F., Gallo, G., Kiuru, S., Somer, H., Palo, J., Frangione, G.
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<strong>Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.</strong>
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Am. J. Path. 136: 1223-1228, 1990.
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[PubMed: 2162627]
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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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Haltia, M., Levy, E., Meretoja, J., Fernandez-Madrid, I., Koivunen, O., Frangione, B.
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<strong>Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.</strong>
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Am. J. Med. Genet. 42: 357-359, 1992.
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[PubMed: 1311149]
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[Full Text: https://doi.org/10.1002/ajmg.1320420321]
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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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Kiuru, S., Matikainen, E., Kupari, M., Haltia, M., Palo, J.
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<strong>Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).</strong>
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J. Neurol. Sci. 126: 40-48, 1994.
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[PubMed: 7836945]
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[Full Text: https://doi.org/10.1016/0022-510x(94)90092-2]
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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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Kiuru, S.
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<strong>Familial amyloidosis of the Finnish type (FAF): a clinical study of 30 patients.</strong>
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Acta Neurol. Scand. 86: 346-353, 1992.
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[PubMed: 1333716]
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[Full Text: https://doi.org/10.1111/j.1600-0404.1992.tb05099.x]
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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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Klaus, E., Freyberger, E., Kavka, G., Vodicka, F.
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<strong>Familial occurrence of a bulbar paralytic form of amyotrophic lateral sclerosis with reticular corneal dystrophy and cutis hyperelastica in 3 sisters.</strong>
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Psychiat. Neurol. (Basel) 138: 79-97, 1959.
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[PubMed: 14409602]
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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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Klintworth, G. K.
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<strong>Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea.</strong>
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Am. J. Path. 50: 371-399, 1967.
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[PubMed: 4163628]
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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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Maury, C. P. J., Alli, K., Baumann, M.
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<strong>Finnish hereditary amyloidosis: amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.</strong>
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FEBS Lett. 260: 85-87, 1990.
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[PubMed: 2153578]
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[Full Text: https://doi.org/10.1016/0014-5793(90)80072-q]
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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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Maury, C. P. J., Kere, J., Tolvanen, R., de la Chapelle, A.
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Starck, T., Kenyon, K. R., Hanninen, L. A., Beyer-Machule, C., Fabian, R., Gorn, R. A., McMullan, F. D., Baum, J., McAdam, K. P. W. J.
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Winkelman, J. E., Delleman, J. W., Ansink, B. J. J.
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<strong>Ein hereditaeres Syndrom, bestehend aus peripherer Polyneuropathie, Hautveraenderungen und gittriger Dystrophie der Hornhaut.</strong>
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