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Entry
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- #201300 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
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- OMIM
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<span class="h4">#201300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/201300"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS162400"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
|
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</div>
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1290&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.ncbi.nlm.nih.gov/books/NBK49247/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8533" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=201300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=970" 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/cfc4af2f-8f2c-4cc5-8d3b-f006fd419b75/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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
|
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</div>
|
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</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070155" 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/201300" 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://omia.org/results?search_type=advanced&omia_id=001150,001514" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070155" 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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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
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|
|
<strong>SNOMEDCT:</strong> 763803004, 860809000<br />
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|
|
<strong>ICD10CM:</strong> G60.8<br />
|
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<strong>ORPHA:</strong> 970<br />
|
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|
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<strong>DO:</strong> 0070155<br />
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">ICD+</a>
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</div>
|
|
<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
|
201300
|
|
</span>
|
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</span>
|
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</div>
|
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</div>
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
|
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|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HSAN IIA<br />
|
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; HSN2A<br />
|
|
HSN IIA<br />
|
|
ACROOSTEOLYSIS, NEUROGENIC<br />
|
|
ACROOSTEOLYSIS, GIACCAI TYPE<br />
|
|
NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE<br />
|
|
MORVAN DISEASE<br />
|
|
NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN<br />
|
|
NEUROPATHY, CONGENITAL SENSORY
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<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">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
|
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</th>
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<th>
|
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/10?start=-3&limit=10&highlight=10">
|
|
12p13.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Neuropathy, hereditary sensory and autonomic, type II
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/201300"> 201300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
WNK1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605232"> 605232 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/201300" 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/PS162400" 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/201300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/201300" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Impaired corneal reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860092</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased taste sensation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/697990000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">697990000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000224</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000224</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
|
|
Gastroesophageal reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722884003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722884003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698065002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698065002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3813607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3813607</a>, <a href="https://bioportal.bioontology.org/search?q=C4317146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317146</a>, <a href="https://bioportal.bioontology.org/search?q=C0017168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Painless fractures due to injury <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837602</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002661</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002661</a>]</span><br /> -
|
|
Neurogenic joint degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860098</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Acroosteolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63122002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63122002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27201004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27201004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0917990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0917990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009771</a>]</span><br /> -
|
|
Acral ulceration leading to autoamputation of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860099</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Acroosteolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63122002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63122002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27201004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27201004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0917990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0917990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009771</a>]</span><br /> -
|
|
Acral ulceration leading to autoamputation of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860099</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Hyperhidrosis, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001069</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001069</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312230002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312230002</a>]</span><br /> -
|
|
Anhidrosis, patchy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860101&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860101</a>]</span><br /> -
|
|
Ulcerations of distal extremities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860102</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Paronychia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71906005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71906005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L03.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L03.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030578</a>, <a href="https://bioportal.bioontology.org/search?q=C1075202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1075202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001818" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001818</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001818" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001818</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
|
|
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle strength and bulk is preserved <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806138</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Impaired sensation in distal extremities (pain, temperature, position, touch) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860090&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860090</a>]</span><br /> -
|
|
Lower limbs more affected than upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836052&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836052</a>]</span><br /> -
|
|
Trunk may be involved later <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860091&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860091</a>]</span><br /> -
|
|
Decreased taste sensation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/697990000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">697990000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000224</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000224</a>]</span><br /> -
|
|
Impaired corneal reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860092</a>]</span><br /> -
|
|
Impaired gag reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860093</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Decreased sensory nerve conduction velocities (NCV) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849148</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003448</a>]</span><br /> -
|
|
Sural nerve biopsy shows severe loss of myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860094</a>]</span><br /> -
|
|
Some loss of unmyelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860095</a>]</span><br /> -
|
|
Absence of cutaneous sensory receptors and fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860096&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860096</a>]</span><br /> -
|
|
Autonomic involvement does not always occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860097&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860097</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Decreased axonal flare response after intradermal histamine injection <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860100</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy or early childhood<br /> -
|
|
Slow progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
|
High disease prevalence among French-Canadians<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 HSN2 isoform of the protein kinase, lysine-deficient 1 gene (WNK1, <a href="/entry/605232#0003">605232.0003</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>
|
|
Hereditary sensory and autonomic neuropathy
|
|
- <a href="/phenotypicSeries/PS162400">PS162400</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/949?start=-3&limit=10&highlight=949"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608654"> Neuropathy, hereditary sensory and autonomic, type V </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608654"> 608654 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162030"> NGF </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162030"> 162030 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1269?start=-3&limit=10&highlight=1269"> 1q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256800"> Insensitivity to pain, congenital, with anhidrosis </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256800"> 256800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191315"> NTRK1 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191315"> 191315 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1177?start=-3&limit=10&highlight=1177"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614213"> Neuropathy, hereditary sensory, type IIC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614213"> 614213 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601255"> KIF1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601255"> 601255 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/104?start=-3&limit=10&highlight=104"> 3p24-p22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608088"> Neuropathy, hereditary sensory, type IB </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608088"> 608088 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608088"> HSN1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608088"> 608088 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/183?start=-3&limit=10&highlight=183"> 3p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615548"> Neuropathy, hereditary sensory and autonomic, type VII </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/615548"> 615548 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604385"> SCN11A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604385"> 604385 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/67?start=-3&limit=10&highlight=67"> 5p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613115"> Neuropathy, hereditary sensory and autonomic, type IIB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613115"> 613115 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613114"> RETREG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613114"> 613114 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/611?start=-3&limit=10&highlight=611"> 6p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614653"> Neuropathy, hereditary sensory and autonomic, type VI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614653"> 614653 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> DST </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113810"> 113810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/301?start=-3&limit=10&highlight=301"> 9q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162400"> Neuropathy, hereditary sensory and autonomic, type IA </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/162400"> 162400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605712"> SPTLC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605712"> 605712 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/397?start=-3&limit=10&highlight=397"> 9q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/223900"> Dysautonomia, familial </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/223900"> 223900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603722"> ELP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603722"> 603722 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/579?start=-3&limit=10&highlight=579"> 9q34.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616488"> Neuropathy, hereditary sensory and autonomic, type VIII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616488"> 616488 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616458"> PRDM12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616458"> 616458 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/528?start=-3&limit=10&highlight=528"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615632"> Neuropathy, hereditary sensory, type IF </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/615632"> 615632 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609369"> ATL3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609369"> 609369 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/10?start=-3&limit=10&highlight=10"> 12p13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/201300"> Neuropathy, hereditary sensory and autonomic, type II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/201300"> 201300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605232"> WNK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605232"> 605232 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/225?start=-3&limit=10&highlight=225"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613708"> Neuropathy, hereditary sensory, type ID </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/613708"> 613708 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606439"> ATL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606439"> 606439 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/419?start=-3&limit=10&highlight=419"> 14q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613640"> Neuropathy, hereditary sensory and autonomic, type IC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because hereditary sensory and autonomic neuropathy type IIA (HSAN2A) is caused by homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see <a href="/entry/605232">605232</a>) on chromosome 12p13.</p>
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<div class="mim-changed mim-change"><p>HSAN2B (<a href="/entry/613115">613115</a>) is caused by mutation in the FAM134B gene (RETREG1; <a href="/entry/613114">613114</a>).</p></div>
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<div class="mim-changed mim-change"><p>For a discussion of genetic heterogeneity of HSAN, see HSAN1 (<a href="/entry/162400">162400</a>).</p></div>
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<p><a href="#7" class="mim-tip-reference" title="Giaccai, L. <strong>Familial and sporadic neurogenic acro-osteolysis.</strong> Acta Radiol. 38: 17-29, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12976160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12976160</a>] [<a href="https://doi.org/10.3109/00016925209177008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12976160">Giaccai (1952)</a> reported 'neurogenic acroosteolysis' in 4 children born of an Arab man who married 2 first cousins. By the first wife, 1 of the children was affected, and by the second wife, 3 of 5 children were affected. Since the spinal cord was normal at autopsy, <a href="#7" class="mim-tip-reference" title="Giaccai, L. <strong>Familial and sporadic neurogenic acro-osteolysis.</strong> Acta Radiol. 38: 17-29, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12976160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12976160</a>] [<a href="https://doi.org/10.3109/00016925209177008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12976160">Giaccai (1952)</a> concluded that the abnormality resided in peripheral sensory nerves. <a href="#9" class="mim-tip-reference" title="Heller, I. H., Robb, P. <strong>Hereditary sensory neuropathy.</strong> Neurology 5: 15-29, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13235976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13235976</a>] [<a href="https://doi.org/10.1212/wnl.5.1.15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13235976">Heller and Robb (1955)</a> described a French Canadian family in which 5 members had the full form of hereditary sensory neuropathy and 3 had an incomplete form, suggesting autosomal dominant inheritance. No amyloid was found on dorsal root ganglion biopsy. <a href="#9" class="mim-tip-reference" title="Heller, I. H., Robb, P. <strong>Hereditary sensory neuropathy.</strong> Neurology 5: 15-29, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13235976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13235976</a>] [<a href="https://doi.org/10.1212/wnl.5.1.15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13235976">Heller and Robb (1955)</a> suggested that the disease was the same as Morvan disease. The patient reported by <a href="#16" class="mim-tip-reference" title="Ogden, T. E., Robert, F., Carmichael, E. A. <strong>Some sensory syndromes in children: indifference to pain and sensory neuropathy.</strong> J. Neurol. Neurosurg. Psychiat. 22: 267-276, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14428406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14428406</a>] [<a href="https://doi.org/10.1136/jnnp.22.4.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14428406">Ogden et al. (1959)</a> as having progressive sensory radicular neuropathy of Denny-Brown (HSAN1) may have had neurogenic acroosteolysis because symptoms began as early as 1 year and the parents were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13235976+14428406+12976160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Biemond, A. <strong>Investigation of the brain in a case of congenital and familial analgesia. (Abstract)</strong> Proceedings of the Second International Congress of Neuropathology, London, September 1955."None>Biemond (1955)</a> described 11-year-old fraternal twins (male and female) with loss of pain sensation, diminished touch and temperature sense, and absent tendon reflexes. Postmortem examination showed deficient development in the posterior root ganglia, gasserian ganglion, posterior roots, posterior horns of the spinal gray matter, and posterior columns. The spinothalamic tracts could not be demonstrated. In a child with sensory and autonomic dysfunction, <a href="#6" class="mim-tip-reference" title="Freytag, E., Lindenberg, R. <strong>Neuropathologic findings in patients of a hospital for the mentally deficient: a survey of 359 cases.</strong> Johns Hopkins Med. J. 121: 379-392, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4228863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4228863</a>]" pmid="4228863">Freytag and Lindenberg (1967)</a> found decreased posterior ascending tracts, severe reduction in the number of neurons in peripheral sensory and autonomic ganglia, and hypoplasia of the pyramidal tracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4228863" 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="Johnson, R. H., Spalding, J. M. K. <strong>Progressive sensory neuropathy in children.</strong> J. Neurol. Neurosurg. Psychiat. 27: 125-130, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14152533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14152533</a>] [<a href="https://doi.org/10.1136/jnnp.27.2.125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14152533">Johnson and Spalding (1964)</a> described a slowly progressive sensory neuropathy in 2 unrelated boys, aged 10 and 15 years, each of whom had consanguineous parents. The disorder began in early childhood and involved all modalities of sensation with no disturbance of motor or autonomic function. Involvement was predominantly distal with late involvement of the trunk, and resulted in loss of digits and Charcot joints at the ankles. <a href="#13" class="mim-tip-reference" title="Johnson, R. H., Spalding, J. M. K. <strong>Progressive sensory neuropathy in children.</strong> J. Neurol. Neurosurg. Psychiat. 27: 125-130, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14152533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14152533</a>] [<a href="https://doi.org/10.1136/jnnp.27.2.125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14152533">Johnson and Spalding (1964)</a> differentiated the disorder from congenital indifference to pain (<a href="/entry/147430">147430</a>, <a href="/entry/243000">243000</a>) by the involvement of all sensory modalities, preservation of proximal sensation, including pain, loss of tendon reflexes, gradual progression, and peripheral nerve degeneration, and from autosomal dominant HSN1 by the recessive mode of inheritance, early age of onset, and ultimate involvement of the trunk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14152533" 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="Haddow, J. E., Shapiro, S. R., Gall, D. G. <strong>Congenital sensory neuropathy in siblings.</strong> Pediatrics 45: 651-655, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4191331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4191331</a>]" pmid="4191331">Haddow et al. (1970)</a> described a brother and sister, offspring of nonconsanguineous parents, with a nonprogressive sensory defect leading to extensive damage of the fingers. The patients had low spinal fluid protein and had suffered from unexplained chronic diarrhea in early life. The mother was Irish and the father was French Canadian. <a href="#8" class="mim-tip-reference" title="Haddow, J. E., Shapiro, S. R., Gall, D. G. <strong>Congenital sensory neuropathy in siblings.</strong> Pediatrics 45: 651-655, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4191331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4191331</a>]" pmid="4191331">Haddow et al. (1970)</a> suggested that the disorder in the French Canadian family described by <a href="#10" class="mim-tip-reference" title="Hould, F., Verret, S. <strong>Neuropathie radiculaire hereditaire avec pertes de sensibilite: etude d'une famille Canadienne-Francaise.</strong> Laval Med. 38: 454-459, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4303658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4303658</a>]" pmid="4303658">Hould and Verret (1967)</a> was the same, although onset in that family was not until the middle of the first decade. <a href="#18" class="mim-tip-reference" title="Ohta, M., Ellefson, R. D., Lambert, E. H., Dyck, P. J. <strong>Hereditary sensory neuropathy, type II: Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship.</strong> Arch. Neurol. 29: 23-37, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4351257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4351257</a>] [<a href="https://doi.org/10.1001/archneur.1973.00490250041005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4351257">Ohta et al. (1973)</a> reported further on the family described by <a href="#10" class="mim-tip-reference" title="Hould, F., Verret, S. <strong>Neuropathie radiculaire hereditaire avec pertes de sensibilite: etude d'une famille Canadienne-Francaise.</strong> Laval Med. 38: 454-459, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4303658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4303658</a>]" pmid="4303658">Hould and Verret (1967)</a>. They suggested that the families of <a href="#22" class="mim-tip-reference" title="Schoene, W. C., Asbury, A. K., Astrom, K. E., Masters, R. <strong>Hereditary sensory neuropathy: a clinical and ultrastructural study.</strong> J. Neurol. Sci. 11: 463-487, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4323167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4323167</a>] [<a href="https://doi.org/10.1016/0022-510x(70)90004-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4323167">Schoene et al. (1970)</a>, <a href="#17" class="mim-tip-reference" title="Ogryzlo, M. A. <strong>A familial peripheral neuropathy of unknown etiology resembling Morvan's disease.</strong> Canad. Med. Assoc. J. 54: 547-553, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20983620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20983620</a>]" pmid="20983620">Ogryzlo (1946)</a>, and <a href="#19" class="mim-tip-reference" title="Parks, H., Staples, O. S. <strong>Two cases of Morvan's syndrome of uncertain cause.</strong> Arch. Intern. Med. 75: 75-81, 1945."None>Parks and Staples (1945)</a> had the same condition. <a href="#18" class="mim-tip-reference" title="Ohta, M., Ellefson, R. D., Lambert, E. H., Dyck, P. J. <strong>Hereditary sensory neuropathy, type II: Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship.</strong> Arch. Neurol. 29: 23-37, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4351257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4351257</a>] [<a href="https://doi.org/10.1001/archneur.1973.00490250041005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4351257">Ohta et al. (1973)</a> suggested the designation 'hereditary sensory neuropathy type II,' giving the name of type I to the dominant disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4303658+4191331+4351257+20983620+4323167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Murray, T. J. <strong>Congenital sensory neuropathy.</strong> Brain 96: 387-394, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4123669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4123669</a>] [<a href="https://doi.org/10.1093/brain/96.2.387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4123669">Murray (1973)</a> reported 2 daughters of first cousins with a recessive form of congenital sensory neuropathy. Impairment of pain, temperature, and touch sensations in varying degrees affected the limbs and trunk. The disorder was thought to be nonprogressive and perhaps caused by a failure of sensory nerve formation rather than by sensory nerve degeneration. <a href="#15" class="mim-tip-reference" title="Murray, T. J. <strong>Congenital sensory neuropathy.</strong> Brain 96: 387-394, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4123669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4123669</a>] [<a href="https://doi.org/10.1093/brain/96.2.387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4123669">Murray (1973)</a> noted that those affected with the disorder often developed painless finger and toe ulcerations which consequently led to damage to the underlying bone. Some patients also developed neuropathic joint degeneration. <a href="#15" class="mim-tip-reference" title="Murray, T. J. <strong>Congenital sensory neuropathy.</strong> Brain 96: 387-394, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4123669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4123669</a>] [<a href="https://doi.org/10.1093/brain/96.2.387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4123669">Murray (1973)</a> compiled 33 cases of congenital sensory neuropathy from the literature, 20 of whom were from 6 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4123669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Jedrzejowska, H., Milczarek, H. <strong>Recessive hereditary sensory neuropathy.</strong> J. Neurol. Sci. 29: 371-387, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/185339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">185339</a>] [<a href="https://doi.org/10.1016/0022-510x(76)90186-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="185339">Jedrzejowska and Milczarek (1976)</a> reported light and electron microscopic findings in the sural nerve from a patient with HSAN2. There was a marked reduction in the number of myelinated fibers due to Wallerian-like axonal degeneration, as well as segmental demyelination, most likely secondary to axonal changes. The authors suggested a progressive nature of the pathologic process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=185339" 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="#24" class="mim-tip-reference" title="Sirinavin, C., Buist, N. R. M., Mokkhaves, P. <strong>Digital clubbing, hyperhidrosis, acroosteolysis and osteoporosis: a case resembling pachydermoperiostosis.</strong> Clin. Genet. 22: 83-89, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7172482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7172482</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01418.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7172482">Sirinavin et al. (1982)</a> reported a 12-year-old Cambodian girl with digital clubbing and joint and leg pain with swelling. Acroosteolysis of the distal phalanges was accompanied by profuse hyperhidrosis of the hands and feet and thickening of soft tissues around the knees and ankles, giving a cylindrical appearance to the legs; these associated features suggested pachydermoperiostosis (<a href="/entry/167100">167100</a>) to the authors. However, the periosteum showed no radiologic changes and the 'clubbing,' was more suggestive of foreshortening due to collapse of the distal phalanges, similar to that seen in chronic uremia. There was generalized osteoporosis and the bones of the calvaria were thin with a single small wormian bone in the lambdoidal suture; these features suggested Cheney syndrome (<a href="/entry/102500">102500</a>), but the fact that the parents were first cousins favored recessive inheritance for the disorder in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7172482" 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="#25" class="mim-tip-reference" title="Sugiura, Y., Sengoku, H. <strong>Familial neurogenic acro-osteolysis, type Giaccai--report of two families.</strong> Jpn. J. Hum. Genet. 31: 49-56, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3016383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3016383</a>] [<a href="https://doi.org/10.1007/BF01876802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3016383">Sugiura and Sengoku (1986)</a> reported 2 kindreds with 4 affected persons. In the first family, the parents were consanguineous and had 2 affected children; in the second family, second cousins were affected. The authors suggested that the disorder referred to as the recessive form of hereditary sensory radicular neuropathy is the same as the Giaccai type of acroosteolysis. <a href="#3" class="mim-tip-reference" title="Bockers, M., Benes, P., Bork, K. <strong>Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion: report of a family.</strong> J. Am. Acad. Derm. 21: 736-739, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2808789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2808789</a>] [<a href="https://doi.org/10.1016/s0190-9622(89)70247-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2808789">Bockers et al. (1989)</a> observed 3 sibs in a Turkish family who developed progressive foot drop between ages 7 and 12 years and ulcers on the lateral edge of the feet. Hyperkeratotic plaques, erosions, and ulcers of the fingers developed in 1 patient at the age of 11 years. The fingers showed ainhum-like constriction bands and spontaneous amputations. Osteomyelitis and osteolysis led to amputations. A high urinary excretion of sphingomyelin and lecithin suggested that the pathogenetic mechanism might be a disorder of phospholipid metabolism. Two of the patients showed the rare blood group O (Bombay); see <a href="/entry/211100">211100</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3016383+2808789" 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="#14" class="mim-tip-reference" title="Lafreniere, R. G., MacDonald, M. L. E., Dube, M.-P., MacFarlane, J., O'Driscoll, M., Brais, B., Meilleur, S., Brinkman, R. R., Dadivas, O., Pape, T., Platon, C., Radomski, C., and 14 others. <strong>Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates.</strong> Am. J. Hum. Genet. 74: 1064-1073, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060842[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/10.1086/420795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15060842">Lafreniere et al. (2004)</a> reported 5 families with HSAN2, including the large family from Newfoundland originally reported by <a href="#17" class="mim-tip-reference" title="Ogryzlo, M. A. <strong>A familial peripheral neuropathy of unknown etiology resembling Morvan's disease.</strong> Canad. Med. Assoc. J. 54: 547-553, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20983620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20983620</a>]" pmid="20983620">Ogryzlo (1946)</a>. Beginning in early childhood, affected individuals experienced numbness in the hands and feet, aggravated by cold, together with reduced sensation to pain. They experienced loss of touch, pain, and temperature, with touch most severely affected. The loss was predominantly distal, extending from the elbows to the fingertips and from just above the knees down to the toes, a pattern of distribution often described as 'glove and stocking.' The lower limbs were typically more severely affected than the upper limbs, and the trunk was involved in some patients. Ulceration and infections caused spontaneous amputation of digits and surgical amputation of lower limbs. There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present. As in the other hereditary sensory neuropathies, there was absence of axon flare after intradermal histamine, indicating defective nociceptive fibers. Biopsy showed a severe loss of myelinated axons, some loss of nonmyelinated fibers in the sural nerve, and the absence of cutaneous sensory receptors and nerve fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20983620+15060842" 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>By linkage analysis of 8 affected members from the consanguineous multigenerational Newfoundland pedigree reported by <a href="#17" class="mim-tip-reference" title="Ogryzlo, M. A. <strong>A familial peripheral neuropathy of unknown etiology resembling Morvan's disease.</strong> Canad. Med. Assoc. J. 54: 547-553, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20983620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20983620</a>]" pmid="20983620">Ogryzlo (1946)</a>, and an additional family with 2 affected members, <a href="#14" class="mim-tip-reference" title="Lafreniere, R. G., MacDonald, M. L. E., Dube, M.-P., MacFarlane, J., O'Driscoll, M., Brais, B., Meilleur, S., Brinkman, R. R., Dadivas, O., Pape, T., Platon, C., Radomski, C., and 14 others. <strong>Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates.</strong> Am. J. Hum. Genet. 74: 1064-1073, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060842[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/10.1086/420795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15060842">Lafreniere et al. (2004)</a> mapped the HSAN2 disease locus to 12p13.33 (maximum lod score of 8.4). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20983620+15060842" 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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<div class="mim-changed mim-change"><p>The transmission pattern of HSAN2A in the families reported by <a href="#14" class="mim-tip-reference" title="Lafreniere, R. G., MacDonald, M. L. E., Dube, M.-P., MacFarlane, J., O'Driscoll, M., Brais, B., Meilleur, S., Brinkman, R. R., Dadivas, O., Pape, T., Platon, C., Radomski, C., and 14 others. <strong>Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates.</strong> Am. J. Hum. Genet. 74: 1064-1073, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060842[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/10.1086/420795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15060842">Lafreniere et al. (2004)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15060842" 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></div>
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<div class="mim-changed mim-change"><p>Among 5 families with HSAN2, including those from Newfoundland reported by <a href="#17" class="mim-tip-reference" title="Ogryzlo, M. A. <strong>A familial peripheral neuropathy of unknown etiology resembling Morvan's disease.</strong> Canad. Med. Assoc. J. 54: 547-553, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20983620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20983620</a>]" pmid="20983620">Ogryzlo (1946)</a> and patients from rural Quebec and Nova Scotia, <a href="#14" class="mim-tip-reference" title="Lafreniere, R. G., MacDonald, M. L. E., Dube, M.-P., MacFarlane, J., O'Driscoll, M., Brais, B., Meilleur, S., Brinkman, R. R., Dadivas, O., Pape, T., Platon, C., Radomski, C., and 14 others. <strong>Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates.</strong> Am. J. Hum. Genet. 74: 1064-1073, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060842[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/10.1086/420795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15060842">Lafreniere et al. (2004)</a> identified 3 different homozygous truncating mutations in the HSN2 isoform of the WNK1 gene (<a href="/entry/605232#0003">605232.0003</a>-<a href="/entry/605232#0005">605232.0005</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20983620+15060842" 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></div>
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<p>In 4 affected members of a large consanguineous Lebanese family with HSAN2, <a href="#20" class="mim-tip-reference" title="Riviere, J.-B., Verlaan, D. J., Shekarabi, M., Lafreniere, R. G., Benard, M., Der Kaloustian, V. M., Shbaklo, Z., Rouleau, G. A. <strong>A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.</strong> Ann. Neurol. 56: 572-575, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15455397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15455397</a>] [<a href="https://doi.org/10.1002/ana.20237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15455397">Riviere et al. (2004)</a> identified a homozygous 1-bp deletion in the HSN2 isoform of the WNK1 gene (<a href="/entry/605232#0006">605232.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15455397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 16 patients from 13 HSAN2 families originating from southern Quebec, <a href="#21" class="mim-tip-reference" title="Roddier, K., Thomas, T., Marleau, G., Gagnon, A. M., Dicaire, M. J., St-Denis, A., Gosselin, I., Sarrazin, A. M., Larbrisseau, A., Lambert, M., Vanasse, M., Gaudet, D., Rouleau, G. A., Brais, B. <strong>Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.</strong> Neurology 64: 1762-1767, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15911806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15911806</a>] [<a href="https://doi.org/10.1212/01.WNL.0000161849.29944.43" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15911806">Roddier et al. (2005)</a> identified 2 HSN2 founder mutations: 56% of patients were homozygous for a nonsense mutation (Q315X; <a href="/entry/605232#0005">605232.0005</a>), 6% were homozygous for a 1-bp insertion (918insA; <a href="/entry/605232#0004">605232.0004</a>), and 38% were compound heterozygous for the 2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15911806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Korean man with HSAN2, <a href="#4" class="mim-tip-reference" title="Cho, H.-J., Kim, B. J., Suh, Y.-L., An, J.-Y., Ki, C.-S. <strong>Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.</strong> J. Hum. Genet. 51: 905-908, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16946995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16946995</a>] [<a href="https://doi.org/10.1007/s10038-006-0033-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16946995">Cho et al. (2006)</a> identified compound heterozygosity for 2 mutations in the HSN2 isoform of the WNK1 gene (<a href="/entry/605232#0008">605232.0008</a> and <a href="/entry/605232#0009">605232.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16946995" 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="#5" class="mim-tip-reference" title="Coen, K., Pareyson, D., Auer-Grumbach, M., Buyse, G., Goemans, N., Claeys, K. G., Verpoorten, N., Laura, M., Scaioli, V., Salmhofer, W., Pieber, T. R., Nelis, E., De Jonghe, P., Timmerman, V. <strong>Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.</strong> Neurology 66: 748-751, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16534117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16534117</a>] [<a href="https://doi.org/10.1212/01.wnl.0000201191.57519.47" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16534117">Coen et al. (2006)</a> reported 3 unrelated patients with HSAN2 from Italy, Austria, and Belgium, respectively. All had compound heterozygous or homozygous truncating mutations in the HSAN2 gene resulting in complete loss of protein function. All patients had early onset of a severe sensory neuropathy with mutilating acropathy but without autonomic dysfunction. Muscle strength was preserved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16534117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a girl with HSAN2, <a href="#23" class="mim-tip-reference" title="Shekarabi, M., Girard, N., Riviere, J.-B., Dion, P., Houle, M., Toulouse, A., Lafreniere, R. G., Vercauteren, F., Hince, P., Laganiere, J., Rochefort, D., Faivre, L., Samuels, M., Rouleau, G. A. <strong>Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.</strong> J. Clin. Invest. 118: 2496-2505, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18521183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18521183</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18521183[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/10.1172/JCI34088" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18521183">Shekarabi et al. (2008)</a> identified compound heterozygosity for 2 mutations in the WNK1 gene: 1 in the WNK1/HSN2 isoform (<a href="/entry/605232#0010">605232.0010</a>) and 1 in the WNK1 isoform (<a href="/entry/605232#0011">605232.0011</a>). She did not have hypertension. The authors noted that all recessive mutations associated with the HSAN2 phenotype resulted in truncations of the WNK1/HSN2 nervous system-specific protein. Disease-causing mutations in WNK1 resulting in pseudohypoaldosteronism type 2 (PHA2C; <a href="/entry/614492">614492</a>) were large, heterozygous intronic deletions that increase the gene expression. This impact on the expression level in PHA2C patients may explain the absence of hypertension in individuals affected with HSAN2, as the expression of the WNK1 isoform in which the HSN2 exon is not incorporated should not be affected. The findings in their patient suggested that 1 mutation in the HSN2 exon is sufficient to cause the HSAN2 phenotype when combined with a mutation in WNK1 on the other allele. Moreover, homozygous mutations disrupting WNK1 isoforms without HSN2 may be lethal, which would explain why all loss-of-function mutations reported to date have been located in the HSN2 exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18521183" 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>Clustering of cases of HSAN II in eastern Canada was reported by <a href="#15" class="mim-tip-reference" title="Murray, T. J. <strong>Congenital sensory neuropathy.</strong> Brain 96: 387-394, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4123669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4123669</a>] [<a href="https://doi.org/10.1093/brain/96.2.387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4123669">Murray (1973)</a> and had first been noted in Newfoundland in the early 1900s. The original family members came from Dorset, United Kingdom, approximately 100 years earlier, as part of a mass migration of Protestant settlers from southwestern England and Roman Catholic settlers from southern Ireland (<a href="#14" class="mim-tip-reference" title="Lafreniere, R. G., MacDonald, M. L. E., Dube, M.-P., MacFarlane, J., O'Driscoll, M., Brais, B., Meilleur, S., Brinkman, R. R., Dadivas, O., Pape, T., Platon, C., Radomski, C., and 14 others. <strong>Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates.</strong> Am. J. Hum. Genet. 74: 1064-1073, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060842[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/10.1086/420795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15060842">Lafreniere et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4123669+15060842" 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="#21" class="mim-tip-reference" title="Roddier, K., Thomas, T., Marleau, G., Gagnon, A. M., Dicaire, M. J., St-Denis, A., Gosselin, I., Sarrazin, A. M., Larbrisseau, A., Lambert, M., Vanasse, M., Gaudet, D., Rouleau, G. A., Brais, B. <strong>Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.</strong> Neurology 64: 1762-1767, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15911806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15911806</a>] [<a href="https://doi.org/10.1212/01.WNL.0000161849.29944.43" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15911806">Roddier et al. (2005)</a> reported that 12 of 16 patients with HSAN2 originated from the Lanaudiere region of Quebec, along the Saint Lawrence River, that was first settled by the French during the second half of the 17th century. Several of the families were consanguineous, and several of the families were distantly related. The affected family reported by <a href="#9" class="mim-tip-reference" title="Heller, I. H., Robb, P. <strong>Hereditary sensory neuropathy.</strong> Neurology 5: 15-29, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13235976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13235976</a>] [<a href="https://doi.org/10.1212/wnl.5.1.15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13235976">Heller and Robb (1955)</a> also originated from the Lanaudiere region. The regional carrier frequency for the identified Q315X and 918insA mutations was estimated at 1 in 116 and 1 in 260, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15911806+13235976" 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="#Barry1974" class="mim-tip-reference" title="Barry, J. E., Hopkins, I. J., Neal, B. W. <strong>Congenital sensory neuropathy.</strong> Arch. Dis. Child. 49: 128-132, 1974.">Barry et al. (1974)</a>; <a href="#Hozay1953" class="mim-tip-reference" title="Hozay, J. <strong>Sur une dystrophie familiale particuliere (inhibition precoce de la croissance et osteolyse non-mutilante acrales avec dysmorphie faciale).</strong> Rev. Neurol. 89: 245-258, 1953.">Hozay (1953)</a>; <a href="#Van1957" class="mim-tip-reference" title="Van Bogaert, L. <strong>Familial ulcers, mutilating lesions of the extremities and acro-osteolysis.</strong> Brit. Med. J. 2: 367-371, 1957.">Van Bogaert (1957)</a>
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Barry, J. E., Hopkins, I. J., Neal, B. W.
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<strong>Congenital sensory neuropathy.</strong>
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Arch. Dis. Child. 49: 128-132, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4131674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4131674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4131674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.49.2.128" target="_blank">Full Text</a>]
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Biemond, A.
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<strong>Investigation of the brain in a case of congenital and familial analgesia. (Abstract)</strong>
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Proceedings of the Second International Congress of Neuropathology, London, September 1955.
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Bockers, M., Benes, P., Bork, K.
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<strong>Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion: report of a family.</strong>
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J. Am. Acad. Derm. 21: 736-739, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2808789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2808789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2808789" 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/s0190-9622(89)70247-4" target="_blank">Full Text</a>]
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Cho, H.-J., Kim, B. J., Suh, Y.-L., An, J.-Y., Ki, C.-S.
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<strong>Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.</strong>
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J. Hum. Genet. 51: 905-908, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16946995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16946995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16946995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-006-0033-1" target="_blank">Full Text</a>]
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Coen, K., Pareyson, D., Auer-Grumbach, M., Buyse, G., Goemans, N., Claeys, K. G., Verpoorten, N., Laura, M., Scaioli, V., Salmhofer, W., Pieber, T. R., Nelis, E., De Jonghe, P., Timmerman, V.
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<strong>Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.</strong>
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Neurology 66: 748-751, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16534117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16534117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16534117" 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/10.1212/01.wnl.0000201191.57519.47" target="_blank">Full Text</a>]
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Freytag, E., Lindenberg, R.
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<strong>Neuropathologic findings in patients of a hospital for the mentally deficient: a survey of 359 cases.</strong>
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Johns Hopkins Med. J. 121: 379-392, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4228863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4228863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4228863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Giaccai, L.
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<strong>Familial and sporadic neurogenic acro-osteolysis.</strong>
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Acta Radiol. 38: 17-29, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12976160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12976160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12976160" 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/10.3109/00016925209177008" target="_blank">Full Text</a>]
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Haddow, J. E., Shapiro, S. R., Gall, D. G.
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<strong>Congenital sensory neuropathy in siblings.</strong>
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Pediatrics 45: 651-655, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4191331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4191331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4191331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Heller, I. H., Robb, P.
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<strong>Hereditary sensory neuropathy.</strong>
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Neurology 5: 15-29, 1955.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13235976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13235976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13235976" 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.5.1.15" target="_blank">Full Text</a>]
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Hould, F., Verret, S.
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<strong>Neuropathie radiculaire hereditaire avec pertes de sensibilite: etude d'une famille Canadienne-Francaise.</strong>
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Laval Med. 38: 454-459, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4303658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4303658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4303658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hozay, J.
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<strong>Sur une dystrophie familiale particuliere (inhibition precoce de la croissance et osteolyse non-mutilante acrales avec dysmorphie faciale).</strong>
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Rev. Neurol. 89: 245-258, 1953.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13167893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13167893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13167893" 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(76)90186-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.27.2.125" target="_blank">Full Text</a>]
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<strong>Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates.</strong>
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[<a href="https://doi.org/10.1086/420795" target="_blank">Full Text</a>]
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<strong>Congenital sensory neuropathy.</strong>
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[<a href="https://doi.org/10.1093/brain/96.2.387" target="_blank">Full Text</a>]
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<strong>Some sensory syndromes in children: indifference to pain and sensory neuropathy.</strong>
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[<a href="https://doi.org/10.1136/jnnp.22.4.267" target="_blank">Full Text</a>]
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<a id="Ogryzlo1946" class="mim-anchor"></a>
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<strong>A familial peripheral neuropathy of unknown etiology resembling Morvan's disease.</strong>
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<strong>Hereditary sensory neuropathy, type II: Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship.</strong>
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Arch. Neurol. 29: 23-37, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4351257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4351257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4351257" 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/10.1001/archneur.1973.00490250041005" target="_blank">Full Text</a>]
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Parks, H., Staples, O. S.
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<strong>Two cases of Morvan's syndrome of uncertain cause.</strong>
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Arch. Intern. Med. 75: 75-81, 1945.
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Riviere, J.-B., Verlaan, D. J., Shekarabi, M., Lafreniere, R. G., Benard, M., Der Kaloustian, V. M., Shbaklo, Z., Rouleau, G. A.
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<strong>A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.</strong>
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Ann. Neurol. 56: 572-575, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15455397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15455397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15455397" 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/ana.20237" target="_blank">Full Text</a>]
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Roddier, K., Thomas, T., Marleau, G., Gagnon, A. M., Dicaire, M. J., St-Denis, A., Gosselin, I., Sarrazin, A. M., Larbrisseau, A., Lambert, M., Vanasse, M., Gaudet, D., Rouleau, G. A., Brais, B.
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<strong>Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.</strong>
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Neurology 64: 1762-1767, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15911806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15911806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15911806" 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/10.1212/01.WNL.0000161849.29944.43" target="_blank">Full Text</a>]
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Schoene, W. C., Asbury, A. K., Astrom, K. E., Masters, R.
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<strong>Hereditary sensory neuropathy: a clinical and ultrastructural study.</strong>
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J. Neurol. Sci. 11: 463-487, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4323167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4323167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4323167" 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(70)90004-3" target="_blank">Full Text</a>]
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Shekarabi, M., Girard, N., Riviere, J.-B., Dion, P., Houle, M., Toulouse, A., Lafreniere, R. G., Vercauteren, F., Hince, P., Laganiere, J., Rochefort, D., Faivre, L., Samuels, M., Rouleau, G. A.
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<strong>Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.</strong>
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J. Clin. Invest. 118: 2496-2505, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18521183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18521183</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18521183[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=18521183" 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/10.1172/JCI34088" target="_blank">Full Text</a>]
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Sirinavin, C., Buist, N. R. M., Mokkhaves, P.
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<strong>Digital clubbing, hyperhidrosis, acroosteolysis and osteoporosis: a case resembling pachydermoperiostosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7172482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7172482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7172482" 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.1399-0004.1982.tb01418.x" target="_blank">Full Text</a>]
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Sugiura, Y., Sengoku, H.
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<strong>Familial neurogenic acro-osteolysis, type Giaccai--report of two families.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3016383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3016383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3016383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01876802" target="_blank">Full Text</a>]
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<div class="">
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Van Bogaert, L.
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<strong>Familial ulcers, mutilating lesions of the extremities and acro-osteolysis.</strong>
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Brit. Med. J. 2: 367-371, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13446485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13446485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13446485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bmj.2.5041.367" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 1/23/2009
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Cassandra L. Kniffin - updated : 6/25/2007<br>Cassandra L. Kniffin - updated : 12/27/2006<br>Cassandra L. Kniffin - updated : 8/17/2005<br>Cassandra L. Kniffin - updated : 12/20/2004<br>Cassandra L. Kniffin - reorganized : 5/21/2004<br>Victor A. McKusick - updated : 4/23/2004
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Victor A. McKusick : 6/2/1986
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carol : 01/03/2025
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carol : 10/23/2024<br>mgross : 10/19/2016<br>carol : 10/14/2016<br>carol : 05/12/2016<br>mcolton : 6/12/2015<br>carol : 8/28/2014<br>carol : 2/12/2014<br>alopez : 2/27/2012<br>alopez : 11/10/2009<br>ckniffin : 11/10/2009<br>wwang : 2/6/2009<br>ckniffin : 1/23/2009<br>wwang : 6/28/2007<br>ckniffin : 6/25/2007<br>wwang : 1/2/2007<br>ckniffin : 12/27/2006<br>wwang : 10/23/2006<br>wwang : 8/22/2005<br>ckniffin : 8/17/2005<br>terry : 6/9/2005<br>tkritzer : 12/28/2004<br>ckniffin : 12/20/2004<br>carol : 5/21/2004<br>carol : 5/21/2004<br>ckniffin : 5/18/2004<br>tkritzer : 4/30/2004<br>tkritzer : 4/28/2004<br>terry : 4/23/2004<br>alopez : 3/17/2004<br>carol : 4/29/2003<br>mimadm : 11/12/1995<br>carol : 3/10/1994<br>carol : 4/17/1992<br>supermim : 3/16/1992<br>carol : 3/8/1992<br>carol : 3/7/1992
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<span class="mim-font">
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<strong>#</strong> 201300
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<h3>
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NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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HSAN IIA<br />
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NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; HSN2A<br />
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HSN IIA<br />
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ACROOSTEOLYSIS, NEUROGENIC<br />
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ACROOSTEOLYSIS, GIACCAI TYPE<br />
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NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE<br />
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MORVAN DISEASE<br />
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NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN<br />
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NEUROPATHY, CONGENITAL SENSORY
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<strong>SNOMEDCT:</strong> 763803004, 860809000;
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<strong>ICD10CM:</strong> G60.8;
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<strong>ORPHA:</strong> 970;
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<strong>DO:</strong> 0070155;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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<th>
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Phenotype <br /> MIM number
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<th>
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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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<tbody>
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<span class="mim-font">
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12p13.33
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<span class="mim-font">
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Neuropathy, hereditary sensory and autonomic, type II
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<span class="mim-font">
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201300
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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WNK1
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<span class="mim-font">
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605232
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because hereditary sensory and autonomic neuropathy type IIA (HSAN2A) is caused by homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see 605232) on chromosome 12p13.</p><p>HSAN2B (613115) is caused by mutation in the FAM134B gene (RETREG1; 613114).</p><p>For a discussion of genetic heterogeneity of HSAN, see HSAN1 (162400).</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Giaccai (1952) reported 'neurogenic acroosteolysis' in 4 children born of an Arab man who married 2 first cousins. By the first wife, 1 of the children was affected, and by the second wife, 3 of 5 children were affected. Since the spinal cord was normal at autopsy, Giaccai (1952) concluded that the abnormality resided in peripheral sensory nerves. Heller and Robb (1955) described a French Canadian family in which 5 members had the full form of hereditary sensory neuropathy and 3 had an incomplete form, suggesting autosomal dominant inheritance. No amyloid was found on dorsal root ganglion biopsy. Heller and Robb (1955) suggested that the disease was the same as Morvan disease. The patient reported by Ogden et al. (1959) as having progressive sensory radicular neuropathy of Denny-Brown (HSAN1) may have had neurogenic acroosteolysis because symptoms began as early as 1 year and the parents were first cousins. </p><p>Biemond (1955) described 11-year-old fraternal twins (male and female) with loss of pain sensation, diminished touch and temperature sense, and absent tendon reflexes. Postmortem examination showed deficient development in the posterior root ganglia, gasserian ganglion, posterior roots, posterior horns of the spinal gray matter, and posterior columns. The spinothalamic tracts could not be demonstrated. In a child with sensory and autonomic dysfunction, Freytag and Lindenberg (1967) found decreased posterior ascending tracts, severe reduction in the number of neurons in peripheral sensory and autonomic ganglia, and hypoplasia of the pyramidal tracts. </p><p>Johnson and Spalding (1964) described a slowly progressive sensory neuropathy in 2 unrelated boys, aged 10 and 15 years, each of whom had consanguineous parents. The disorder began in early childhood and involved all modalities of sensation with no disturbance of motor or autonomic function. Involvement was predominantly distal with late involvement of the trunk, and resulted in loss of digits and Charcot joints at the ankles. Johnson and Spalding (1964) differentiated the disorder from congenital indifference to pain (147430, 243000) by the involvement of all sensory modalities, preservation of proximal sensation, including pain, loss of tendon reflexes, gradual progression, and peripheral nerve degeneration, and from autosomal dominant HSN1 by the recessive mode of inheritance, early age of onset, and ultimate involvement of the trunk. </p><p>Haddow et al. (1970) described a brother and sister, offspring of nonconsanguineous parents, with a nonprogressive sensory defect leading to extensive damage of the fingers. The patients had low spinal fluid protein and had suffered from unexplained chronic diarrhea in early life. The mother was Irish and the father was French Canadian. Haddow et al. (1970) suggested that the disorder in the French Canadian family described by Hould and Verret (1967) was the same, although onset in that family was not until the middle of the first decade. Ohta et al. (1973) reported further on the family described by Hould and Verret (1967). They suggested that the families of Schoene et al. (1970), Ogryzlo (1946), and Parks and Staples (1945) had the same condition. Ohta et al. (1973) suggested the designation 'hereditary sensory neuropathy type II,' giving the name of type I to the dominant disorder. </p><p>Murray (1973) reported 2 daughters of first cousins with a recessive form of congenital sensory neuropathy. Impairment of pain, temperature, and touch sensations in varying degrees affected the limbs and trunk. The disorder was thought to be nonprogressive and perhaps caused by a failure of sensory nerve formation rather than by sensory nerve degeneration. Murray (1973) noted that those affected with the disorder often developed painless finger and toe ulcerations which consequently led to damage to the underlying bone. Some patients also developed neuropathic joint degeneration. Murray (1973) compiled 33 cases of congenital sensory neuropathy from the literature, 20 of whom were from 6 families. </p><p>Jedrzejowska and Milczarek (1976) reported light and electron microscopic findings in the sural nerve from a patient with HSAN2. There was a marked reduction in the number of myelinated fibers due to Wallerian-like axonal degeneration, as well as segmental demyelination, most likely secondary to axonal changes. The authors suggested a progressive nature of the pathologic process. </p><p>Sirinavin et al. (1982) reported a 12-year-old Cambodian girl with digital clubbing and joint and leg pain with swelling. Acroosteolysis of the distal phalanges was accompanied by profuse hyperhidrosis of the hands and feet and thickening of soft tissues around the knees and ankles, giving a cylindrical appearance to the legs; these associated features suggested pachydermoperiostosis (167100) to the authors. However, the periosteum showed no radiologic changes and the 'clubbing,' was more suggestive of foreshortening due to collapse of the distal phalanges, similar to that seen in chronic uremia. There was generalized osteoporosis and the bones of the calvaria were thin with a single small wormian bone in the lambdoidal suture; these features suggested Cheney syndrome (102500), but the fact that the parents were first cousins favored recessive inheritance for the disorder in this patient. </p><p>Sugiura and Sengoku (1986) reported 2 kindreds with 4 affected persons. In the first family, the parents were consanguineous and had 2 affected children; in the second family, second cousins were affected. The authors suggested that the disorder referred to as the recessive form of hereditary sensory radicular neuropathy is the same as the Giaccai type of acroosteolysis. Bockers et al. (1989) observed 3 sibs in a Turkish family who developed progressive foot drop between ages 7 and 12 years and ulcers on the lateral edge of the feet. Hyperkeratotic plaques, erosions, and ulcers of the fingers developed in 1 patient at the age of 11 years. The fingers showed ainhum-like constriction bands and spontaneous amputations. Osteomyelitis and osteolysis led to amputations. A high urinary excretion of sphingomyelin and lecithin suggested that the pathogenetic mechanism might be a disorder of phospholipid metabolism. Two of the patients showed the rare blood group O (Bombay); see 211100. </p><p>Lafreniere et al. (2004) reported 5 families with HSAN2, including the large family from Newfoundland originally reported by Ogryzlo (1946). Beginning in early childhood, affected individuals experienced numbness in the hands and feet, aggravated by cold, together with reduced sensation to pain. They experienced loss of touch, pain, and temperature, with touch most severely affected. The loss was predominantly distal, extending from the elbows to the fingertips and from just above the knees down to the toes, a pattern of distribution often described as 'glove and stocking.' The lower limbs were typically more severely affected than the upper limbs, and the trunk was involved in some patients. Ulceration and infections caused spontaneous amputation of digits and surgical amputation of lower limbs. There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present. As in the other hereditary sensory neuropathies, there was absence of axon flare after intradermal histamine, indicating defective nociceptive fibers. Biopsy showed a severe loss of myelinated axons, some loss of nonmyelinated fibers in the sural nerve, and the absence of cutaneous sensory receptors and nerve fibers. </p>
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</span>
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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>Mapping</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>By linkage analysis of 8 affected members from the consanguineous multigenerational Newfoundland pedigree reported by Ogryzlo (1946), and an additional family with 2 affected members, Lafreniere et al. (2004) mapped the HSAN2 disease locus to 12p13.33 (maximum lod score of 8.4). </p>
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</span>
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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>Inheritance</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>The transmission pattern of HSAN2A in the families reported by Lafreniere et al. (2004) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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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>Among 5 families with HSAN2, including those from Newfoundland reported by Ogryzlo (1946) and patients from rural Quebec and Nova Scotia, Lafreniere et al. (2004) identified 3 different homozygous truncating mutations in the HSN2 isoform of the WNK1 gene (605232.0003-605232.0005) </p><p>In 4 affected members of a large consanguineous Lebanese family with HSAN2, Riviere et al. (2004) identified a homozygous 1-bp deletion in the HSN2 isoform of the WNK1 gene (605232.0006). </p><p>In 16 patients from 13 HSAN2 families originating from southern Quebec, Roddier et al. (2005) identified 2 HSN2 founder mutations: 56% of patients were homozygous for a nonsense mutation (Q315X; 605232.0005), 6% were homozygous for a 1-bp insertion (918insA; 605232.0004), and 38% were compound heterozygous for the 2 mutations. </p><p>In a Korean man with HSAN2, Cho et al. (2006) identified compound heterozygosity for 2 mutations in the HSN2 isoform of the WNK1 gene (605232.0008 and 605232.0009). </p><p>Coen et al. (2006) reported 3 unrelated patients with HSAN2 from Italy, Austria, and Belgium, respectively. All had compound heterozygous or homozygous truncating mutations in the HSAN2 gene resulting in complete loss of protein function. All patients had early onset of a severe sensory neuropathy with mutilating acropathy but without autonomic dysfunction. Muscle strength was preserved. </p><p>In a girl with HSAN2, Shekarabi et al. (2008) identified compound heterozygosity for 2 mutations in the WNK1 gene: 1 in the WNK1/HSN2 isoform (605232.0010) and 1 in the WNK1 isoform (605232.0011). She did not have hypertension. The authors noted that all recessive mutations associated with the HSAN2 phenotype resulted in truncations of the WNK1/HSN2 nervous system-specific protein. Disease-causing mutations in WNK1 resulting in pseudohypoaldosteronism type 2 (PHA2C; 614492) were large, heterozygous intronic deletions that increase the gene expression. This impact on the expression level in PHA2C patients may explain the absence of hypertension in individuals affected with HSAN2, as the expression of the WNK1 isoform in which the HSN2 exon is not incorporated should not be affected. The findings in their patient suggested that 1 mutation in the HSN2 exon is sufficient to cause the HSAN2 phenotype when combined with a mutation in WNK1 on the other allele. Moreover, homozygous mutations disrupting WNK1 isoforms without HSN2 may be lethal, which would explain why all loss-of-function mutations reported to date have been located in the HSN2 exon. </p>
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</span>
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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>Population 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>Clustering of cases of HSAN II in eastern Canada was reported by Murray (1973) and had first been noted in Newfoundland in the early 1900s. The original family members came from Dorset, United Kingdom, approximately 100 years earlier, as part of a mass migration of Protestant settlers from southwestern England and Roman Catholic settlers from southern Ireland (Lafreniere et al., 2004). </p><p>Roddier et al. (2005) reported that 12 of 16 patients with HSAN2 originated from the Lanaudiere region of Quebec, along the Saint Lawrence River, that was first settled by the French during the second half of the 17th century. Several of the families were consanguineous, and several of the families were distantly related. The affected family reported by Heller and Robb (1955) also originated from the Lanaudiere region. The regional carrier frequency for the identified Q315X and 918insA mutations was estimated at 1 in 116 and 1 in 260, respectively. </p>
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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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Barry et al. (1974); Hozay (1953); Van Bogaert (1957)
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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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<ol>
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<li>
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<p class="mim-text-font">
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Barry, J. E., Hopkins, I. J., Neal, B. W.
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<strong>Congenital sensory neuropathy.</strong>
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Arch. Dis. Child. 49: 128-132, 1974.
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[PubMed: 4131674]
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[Full Text: https://doi.org/10.1136/adc.49.2.128]
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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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Biemond, A.
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<strong>Investigation of the brain in a case of congenital and familial analgesia. (Abstract)</strong>
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Proceedings of the Second International Congress of Neuropathology, London, September 1955.
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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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Bockers, M., Benes, P., Bork, K.
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<strong>Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion: report of a family.</strong>
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J. Am. Acad. Derm. 21: 736-739, 1989.
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[PubMed: 2808789]
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[Full Text: https://doi.org/10.1016/s0190-9622(89)70247-4]
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</li>
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<li>
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<p class="mim-text-font">
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Cho, H.-J., Kim, B. J., Suh, Y.-L., An, J.-Y., Ki, C.-S.
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<strong>Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.</strong>
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J. Hum. Genet. 51: 905-908, 2006.
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[PubMed: 16946995]
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[Full Text: https://doi.org/10.1007/s10038-006-0033-1]
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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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Coen, K., Pareyson, D., Auer-Grumbach, M., Buyse, G., Goemans, N., Claeys, K. G., Verpoorten, N., Laura, M., Scaioli, V., Salmhofer, W., Pieber, T. R., Nelis, E., De Jonghe, P., Timmerman, V.
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<strong>Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.</strong>
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Neurology 66: 748-751, 2006.
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Riviere, J.-B., Verlaan, D. J., Shekarabi, M., Lafreniere, R. G., Benard, M., Der Kaloustian, V. M., Shbaklo, Z., Rouleau, G. A.
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Shekarabi, M., Girard, N., Riviere, J.-B., Dion, P., Houle, M., Toulouse, A., Lafreniere, R. G., Vercauteren, F., Hince, P., Laganiere, J., Rochefort, D., Faivre, L., Samuels, M., Rouleau, G. A.
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<strong>Digital clubbing, hyperhidrosis, acroosteolysis and osteoporosis: a case resembling pachydermoperiostosis.</strong>
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<strong>Familial ulcers, mutilating lesions of the extremities and acro-osteolysis.</strong>
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