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Entry
- #601675 - TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
- OMIM
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<span class="h4">#601675</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/601675"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS601675"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE) OR (ERCC2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10319&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Trichothiodystrophy&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=963&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">PIBIDS syndrome&nbsp;</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7211" 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>
<div><a href="https://medlineplus.gov/genetics/condition/trichothiodystrophy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601675[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>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Trichothiodystrophy</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">PIBIDS syndrome</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5bfca9f9-496c-4376-b1a9-fc0d22a1227b/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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111873" 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>
<div><a href="http://www.informatics.jax.org/disease/601675" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0111873" 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 id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:601675" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
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</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 33364, 670<br />
<strong>DO:</strong> 0111873<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
601675
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP<br />
ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION<br />
TAY SYNDROME<br />
TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS<br />
ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY<br />
PIBIDS SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/818?start=-3&limit=10&highlight=818">
19q13.32
</a>
</span>
</td>
<td>
<span class="mim-font">
Trichothiodystrophy 1, photosensitive
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601675"> 601675 </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">
ERCC2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126340"> 126340 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/601675" 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>
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</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS601675" 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>
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&nbsp;
<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/601675" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/601675" 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> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
</span>
</div>
</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> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly (<3rd centile) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230666</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Unusual face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230665</a>]</span><br /> -
Receding chin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Recurrent otitis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750039</a>]</span><br /> -
Protruding ears (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=113f9326ce875e6bb7cc746250f34ffe" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Protruding-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=113f9326ce875e6bb7cc746250f34ffe&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Microcornea (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
Microphthalmia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
Infantile cataract (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399120006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399120006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339358</a>]</span><br /> -
Bilateral cataract (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Decreased best corrected visual acuity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3899404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3899404</a>]</span><br /> -
Dry eye syndrome (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46152009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46152009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H04.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H04.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013238</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span><br /> -
Ocular surface fluorescein staining (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231169</a>]</span><br /> -
Early onset of age-related macular degeneration (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231168</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small, thin nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230662</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">
- Small, triangular mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230661</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dystrophic teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230660</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">
- Chronic diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236071009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236071009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0401151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0401151</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002028</a>]</span><br /> -
Malabsorption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32230006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32230006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197476001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197476001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K90.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/579.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">579.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">579</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024523</a>, <a href="https://bioportal.bioontology.org/search?q=C3714745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002024</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">
- Ichthyosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br /> -
Ichthyotic skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br /> -
Nonbullous ichthyosiform erythroderma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230658</a>]</span><br /> -
Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br /> -
Flaky skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230657&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230657</a>]</span><br /> -
Collodion baby <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267372009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267372009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205550003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205550003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079154</a>, <a href="https://bioportal.bioontology.org/search?q=C5848247&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848247</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007479</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007479</a>]</span><br /> -
Photosensitivity, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849186&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849186</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007537</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
Sunburn after short exposure to sun <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230656</a>]</span><br /> -
Telangiectasia of photoexposed areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230655</a>]</span><br /> -
Erythroderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399992009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399992009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/200948000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">200948000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400005007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400005007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L26" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L26</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L53.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001019</a>]</span><br /> -
Freckling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699225003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699225003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403536009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403536009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</a>]</span><br /> -
Hyperkeratosis on soles of feet <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230654</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">
- Brittle nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69192004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69192004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546956</a>, <a href="https://bioportal.bioontology.org/search?q=C5779504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779504</a>, <a href="https://bioportal.bioontology.org/search?q=C1856963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030804</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001808</a>]</span><br /> -
Dystrophic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
Hypoplastic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247546006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247546006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002213</a>]</span><br /> -
Sparse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br /> -
Brittle hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25159003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25159003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span><br /> -
Trichoschisis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403336005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403336005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1274711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1274711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034354</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034354</a>]</span><br /> -
Trichorrhexis nodosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238736006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238736006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009886</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009886</a>]</span><br /> -
Pili annulati ('tiger-tail' hair) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230653</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21926007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21926007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q84.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q84.1</a>]</span><br /> -
Flattened hair shaft <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230652</a>]</span><br /> -
Reduced cysteine/cystine and sulfur content <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230651</a>]</span><br /> -
Abnormal distribution of sulfur-rich proteins in the cortex and hair cuticle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230650</a>]</span><br />
</span>
</div>
</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> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation (IQ 45-58) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230668</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Poor gross and fine motor coordination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855555</a>]</span><br /> -
Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
Diffuse signal hyperintensity of white matter seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230667&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230667</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Recurrent infections (enteritis, otitis, and urinary infection) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230659</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Squamous cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br /> -
Basal cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254701007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254701007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1338007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1338007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1547219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1547219</a>, <a href="https://bioportal.bioontology.org/search?q=C4721806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721806</a>, <a href="https://bioportal.bioontology.org/search?q=C0007117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</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">
- Skin neoplasia may appear later in life<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 ERCC excision repair 2, TFIIH core complex helicase subunit gene (ERCC2, <a href="/entry/126340#0001">126340.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;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>
Trichothiodystrophy
- <a href="/phenotypicSeries/PS601675">PS601675</a>
- 9 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/2/621?start=-3&limit=10&highlight=621"> 2q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616390"> Trichothiodystrophy 2, photosensitive </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/616390"> 616390 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133510"> ERCC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133510"> 133510 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/91?start=-3&limit=10&highlight=91"> 5p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618546"> Trichothiodystrophy 7, nonphotosensitive </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/618546"> 618546 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187790"> TARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187790"> 187790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/983?start=-3&limit=10&highlight=983"> 6q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616395"> Trichothiodystrophy 3, photosensitive </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/616395"> 616395 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608780"> GTF2H5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608780"> 608780 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/208?start=-3&limit=10&highlight=208"> 7p14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/234050"> Trichothiodystrophy 4, nonphotosensitive </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/234050"> 234050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609188"> MPLKIP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609188"> 609188 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/179?start=-3&limit=10&highlight=179"> 8p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616943"> Trichothiodystrophy 6, nonphotosensitive </a>
</span>
</td>
<td>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/616943"> 616943 </a>
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<a href="/entry/189964"> GTF2E2 </a>
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<a href="/entry/189964"> 189964 </a>
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<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
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<a href="/entry/619692"> ?Trichothiodystrophy 9, nonphotosensitive </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/619692"> 619692 </a>
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<a href="/entry/156560"> MARS1 </a>
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<a href="/entry/156560"> 156560 </a>
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<a href="/entry/619691"> Trichothiodystrophy 8, nonphotosensitive </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/619691"> 619691 </a>
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<a href="/entry/601065"> AARS1 </a>
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<a href="/entry/601065"> 601065 </a>
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<a href="/entry/601675"> Trichothiodystrophy 1, photosensitive </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/601675"> 601675 </a>
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<a href="/entry/126340"> ERCC2 </a>
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<a href="/entry/126340"> 126340 </a>
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<a href="/geneMap/X/619?start=-3&limit=10&highlight=619"> Xq24 </a>
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<a href="/entry/300953"> Trichothiodystrophy 5, nonphotosensitive </a>
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/300953"> 300953 </a>
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<a href="/entry/300951"> RNF113A </a>
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<span class="mim-font">
<a href="/entry/300951"> 300951 </a>
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<p>A number sign (#) is used with this entry because of evidence that photosensitive trichothiodystrophy-1 (TTD1) is caused by homozygous or compound heterozygous mutation in the ERCC2/XPD gene (<a href="/entry/126340">126340</a>), which encodes a helicase subunit of transcription/repair factor TFIIH, on chromosome 19q13.</p>
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<p>Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by <a href="#10" class="mim-tip-reference" title="Faghri, S., Tamura, D., Kraemer, K. H., DiGiovanna, J. J. &lt;strong&gt;Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.&lt;/strong&gt; J. Med. Genet. 45: 609-621, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18603627/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18603627&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18603627[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058743&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18603627">Faghri et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18603627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Trichothiodystrophy</em></strong></p><p>
Also see TTD2 (<a href="/entry/616390">616390</a>), caused by mutation in the ERCC3/XPB gene (<a href="/entry/133510">133510</a>); TTD3 (<a href="/entry/616395">616395</a>), caused by mutation in the GTF2H5 gene (<a href="/entry/608780">608780</a>); TTD4 (<a href="/entry/234050">234050</a>), caused by mutation in the MPLKIP gene (<a href="/entry/609188">609188</a>); TTD5 (<a href="/entry/300953">300953</a>), caused by mutation in the RNF113A gene (<a href="/entry/300951">300951</a>); TTD6 (<a href="/entry/616943">616943</a>), caused by mutation in the GTF2E2 gene (<a href="/entry/189964">189964</a>); TTD7 (<a href="/entry/618546">618546</a>), caused by mutation in the TARS gene (<a href="/entry/187790">187790</a>); TTD8 (<a href="/entry/619691">619691</a>), caused by mutation in the AARS1 gene (<a href="/entry/601065">601065</a>); and TTD9 (<a href="/entry/619692">619692</a>), caused by mutation in the MARS1 gene (<a href="/entry/156560">156560</a>).</p>
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<p>In 2 brothers and a sister, with first-cousin parents of Chinese extraction, <a href="#30" class="mim-tip-reference" title="Tay, C. H. &lt;strong&gt;Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation: a new recessive disorder.&lt;/strong&gt; Arch. Derm. 104: 4-13, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5120162/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5120162&lt;/a&gt;]" pmid="5120162">Tay (1971)</a> described a 'new' autosomal recessive disorder characterized by nonbullous ichthyosiform erythroderma, growth and mental retardation, somewhat progeria-like appearance, and short, sparse, lusterless hair that microscopically showed pili torti and trichorrhexis nodosa. One of the children had hypogammaglobulinemia, and one died at age 2 months of intestinal obstruction. Erythroderma was particularly striking at birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5120162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Price, V. H., Odom, R. B., Ward, W. H., Jones, F. T. &lt;strong&gt;Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.&lt;/strong&gt; Arch. Derm. 116: 1375-1384, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7458366/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7458366&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.116.12.1375&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7458366">Price et al. (1980)</a> introduced the term trichothiodystrophy for sulfur-deficient brittle hair. They noted that trichothiodystrophy was a marker for neuroectodermal symptoms of brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. Approximately half of TTD patients display photosensitivity, correlated with a nucleotide excision repair (NER) defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7458366" 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="King, M. D., Gummer, C. L., Stephenson, J. B. P. &lt;strong&gt;Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.&lt;/strong&gt; J. Med. Genet. 21: 286-289, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6492094/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6492094&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.21.4.286&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6492094">King et al. (1984)</a> described 2 cases of what they called trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt in unrelated children. Case 1 was a Scottish boy who was restudied by <a href="#4" class="mim-tip-reference" title="Botta, E., Theil, A. F., Raams, A., Caligiuri, G., Giachetti, S., Bione, S., Accadia, M., Lombardi, A., Smith, D. E. C., Mendes, M. I., Swagemakers, S. M. A., van der Spek, P. J., Salomons, G. S., Hoeijmakers, J. H. J., Yesodharan, D., Nampoothiri, S., Ogi, T., Lehmann, A. R., Orioli, D., Vermeulen, W. &lt;strong&gt;Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.&lt;/strong&gt; Hum. Molec. Genet. 30: 1711-1720, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33909043/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33909043&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33909043[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddab123&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33909043">Botta et al. (2021)</a> (see TTD8, <a href="/entry/619691">619691</a>) and found to have mutations in the AARS1 gene (see <a href="/entry/601065#0008">601065.0008</a>). Case 2 was a 2.5-year-old girl, born of nonconsanguineous Scottish parents, who had jerky eye movements, limb stiffness, and failure to thrive, with length, weight, and head circumference below the 3rd centile. Her face was unusual and she had sparse and brittle hair with short stubbly eyebrows. Upper eyelashes were normal, but lower eyelashes were sparse. The nails were hypoplastic and spoon-shaped. Her skin was dry and photosensitive. Bilateral central nuclear cataracts, head lag, adductor spasm, scissoring of the lower limbs, and brisk tendon reflexes were also found. At 2.5 years, she functioned at an 18 month level, crawling and walking with support, but with marked truncal ataxia and pyramidal signs. Height, weight, and head circumference were still 2 SD below the 3rd centile, and the trichocutaneous features were unchanged. <a href="#15" class="mim-tip-reference" title="King, M. D., Gummer, C. L., Stephenson, J. B. P. &lt;strong&gt;Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.&lt;/strong&gt; J. Med. Genet. 21: 286-289, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6492094/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6492094&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.21.4.286&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6492094">King et al. (1984)</a> suggested that this disorder is the same as the Amish brittle hair syndrome (<a href="/entry/234050">234050</a>) and the Sabinas brittle hair syndrome (<a href="/entry/211390">211390</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6492094+33909043" 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="Happle, R., Traupe, H., Grobe, H., Bonsmann, G. &lt;strong&gt;The Tay syndrome (congenital ichthyosis with trichothiodystrophy).&lt;/strong&gt; Europ. J. Pediat. 141: 147-152, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538137/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538137&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00443212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538137">Happle et al. (1984)</a> reported a patient with congenital ichthyosis with trichothiodystrophy (Tay syndrome) and reviewed 12 previously reported patients. Dysplastic nails are frequently observed. As in autosomal dominant ichthyosis vulgaris, flexural areas of the limbs may be spared. Lack of subcutaneous fatty tissue is characteristic. In women, breast tissue may be completely absent in spite of normal development of the nipples. The face has an aged appearance due to lack of subcutaneous fat. Low birth weight and short stature (below 3rd centile at all ages) are features and all patients have mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6538137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Braun-Falco, O., Ring, J., Butenandt, O., Selzle, D., Landthaler, M. &lt;strong&gt;Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionsstorungen. Kasuistischer Bericht ueber zwei Geschwister.&lt;/strong&gt; Hautarzt 33: 67-74, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7228665/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7228665&lt;/a&gt;]" pmid="7228665">Braun-Falco et al. (1981)</a> reported an affected brother and sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7228665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Nuzzo, F., Stefanini, M., Colognola, R., Zei, G., Santachiara, A. S., Lagomarsini, P., Casati, S., Marinoni, S. &lt;strong&gt;Association of two rare hereditary disorders, xeroderma pigmentosum and trichothiodystrophy, in three families from north-east Italy. (Abstract)&lt;/strong&gt; 7th International Congress of Human Genetics, Berlin 1986. P. 249."None>Nuzzo et al. (1986)</a> reported inbred Italian kindreds in which TTD and xeroderma pigmentosum of complement group D (<a href="/entry/278730">278730</a>) were found to be cosegregating, suggesting linkage of the 2 disorders. TTD features in the patients included hair shaft abnormalities, ichthyosis, immature sexual development, short stature, and peculiar facies. <a href="#19" class="mim-tip-reference" title="Nuzzo, F., Zei, G., Stefanini, M., Colognola, R., Santachiara, A. S., Lagomarsini, P., Marinoni, S., Salvaneschi, L. &lt;strong&gt;Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.&lt;/strong&gt; J. Med. Genet. 27: 21-25, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2308151/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2308151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.1.21&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2308151">Nuzzo et al. (1990)</a> checked consanguinity within and among 3 families by construction of genealogic trees, typing of blood markers, and a surname analysis. The results strengthened the hypothesis that in at least 2 of the 3 families, the genetic defects represented by the combined phenotype were of the same origin, as a consequence of remote inbreeding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2308151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the son of a Finnish uncle-niece marriage, <a href="#2" class="mim-tip-reference" title="Blomquist, H. K., Back, O., Fagerlund, M., Holmgren, G., Stecksen-Blicks, C. &lt;strong&gt;Tay or IBIDS syndrome: a case with growth and mental retardation, congenital ichthyosis and brittle hair.&lt;/strong&gt; Acta Paediat. Scand. 80: 1241-1245, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1785299/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1785299&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1991.tb11817.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1785299">Blomquist et al. (1991)</a> observed Tay or IBIDS syndrome, which was manifested by growth and mental retardation, congenital ichthyosis, and brittle hair. The boy suffered from recurrent infections and died at the age of 3 years from pneumonia. The authors also reviewed 15 cases from the literature. A birth weight less than 2,500 grams was found in 8 of 11 cases, birth length less than 40 cm in 3 of 6, hypogonadism in 9 of 9, cataract in 7 of 8, frequent infections in 7 of 7, and microcephaly in 6 of 6; all of these features were also present in their patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1785299" 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="Peserico, A., Battistella, P. A., Bertoli, P. &lt;strong&gt;MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.&lt;/strong&gt; Neuroradiology 34: 316-317, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1528442/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1528442&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00588190&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1528442">Peserico et al. (1992)</a> reported a 12-year-old girl with TTD1. Failure to thrive and developmental delay was noted in the first year of life, with severe psychomotor retardation noted after age 2. She had recurrent infections and showed extreme photosensitivity. On examination at age 12, she had moderate ichthyosis and her scalp hair was short, brittle, and dry. Her weight was below the 3rd centile and her height and head circumference were at the 3rd centile. She had a spastic gait with increased muscle tone. Her total IQ was 56. On ophthalmologic examination showed reduced visual acuity and pale optic discs. MRI showed diffuse high signal throughout the cerebral white matter on T2-weighted images. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Kleijer, W. J., Beemer, F. A., Boom, B. W. &lt;strong&gt;Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.&lt;/strong&gt; Am. J. Med. Genet. 52: 227-230, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7802014/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7802014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320520220&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7802014">Kleijer et al. (1994)</a> described a female child with what <a href="#8" class="mim-tip-reference" title="Crovato, F., Borrone, F., Rebora, A. &lt;strong&gt;Trichothiodystrophy--BIDS, IBIDS and PIBIDS? (Letter)&lt;/strong&gt; Brit. J. Derm. 108: 247 only, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6824580/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6824580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1983.tb00068.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6824580">Crovato et al. (1983)</a> and <a href="#24" class="mim-tip-reference" title="Rebora, A., Crovato, F. &lt;strong&gt;Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome. (Letter)&lt;/strong&gt; Hum. Genet. 78: 106-108, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3338790/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3338790&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00291250&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3338790">Rebora and Crovato (1988)</a> referred to as the PIBI(D)S syndrome with trichothiodystrophy. She had photosensitivity, ichthyosis, brittle hair, impaired intelligence, possibly decreased fertility, and short stature. A remarkable feature was the intermittent character of the scalp hair loss during infectious periods, such as with pneumonia. The child died unexpectedly at home during sleep at the age of 2 years and 8 months. Easy suntanning suggested photosensitivity and prompted DNA repair studies, which demonstrated reduced UV-induced DNA repair synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6824580+7802014+3338790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Battistella, P. A., Peserico, A. &lt;strong&gt;Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.&lt;/strong&gt; Childs Nerv. Syst. 12: 110-113, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8674078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8674078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00819509&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8674078">Battistella and Peserico (1996)</a> reported a 6-year-old boy, previously reported by <a href="#17" class="mim-tip-reference" title="Marinoni, S., Trevisan, G., Gaeta, G., Not, T., Lagomarsini, P., Stevanini, M., Nazzaro, V., Ermacora, E. &lt;strong&gt;Trichothiodystrophy associated with group D xeroderma pigmentosum in seven Italian patients.&lt;/strong&gt; Third Congress of the European Society of Paediatric Dermatology, Bordeaux, France 1990."None>Marinoni et al. (1990)</a> and <a href="#26" class="mim-tip-reference" title="Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R., Trevisan, G. &lt;strong&gt;DNA repair investigations in nine Italian patients affected by trichothiodystrophy.&lt;/strong&gt; Mutat. Res. 273: 119-125, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1372095/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1372095&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0921-8777(92)90073-c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1372095">Stefanini et al. (1992)</a> as TTD8PV, with PIBIDS. The child showed developmental delay at age 6 months and severe psychomotor retardation after age 2 years. At the age of 20 months, he was noted to have brittle hair with trichothiodystrophy, photosensitivity, and ichthyosis. At age 6 years, his height and weight were below the 3rd centile. He had poor gross and fine motor coordination, with no ataxia or spasticity. His IQ was 45. Ophthalmic examination showed bilateral cataracts. He had an unusual facies, with a receding chin and protruding ears; his nose was small and thin and his mouth was triangular in shape. MRI showed diffuse CNS dysmyelination on T2-weighted images. Light microscopy of the hair shaft showed trichoschisis. <a href="#27" class="mim-tip-reference" title="Stefanini, M., Lagomarsini, P., Giliani, S., Nardo, T., Botta, E., Peserico, A., Kleijer, W. J., Lehmann, A. R., Sarasin, A. &lt;strong&gt;Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.&lt;/strong&gt; Carcinogenesis 14: 1101-1105, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8508495/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8508495&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/carcin/14.6.1101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8508495">Stefanini et al. (1993)</a> stated that all 8 photosensitive TTD patients identified in Italy, including patient TTD8PV, show the same cellular phenotype (low levels of DNA repair synthesis and of survival after UV light) and have all been classified into XP group D. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8674078+8508495+1372095" 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="#28" class="mim-tip-reference" title="Takayama, K., Danks, D. M., Salazar, E. P., Cleaver, J. E., Weber, C. A. &lt;strong&gt;DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.&lt;/strong&gt; Hum. Mutat. 9: 519-525, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9195225/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9195225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1997)9:6&lt;519::AID-HUMU4&gt;3.0.CO;2-X&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9195225">Takayama et al. (1997)</a> studied a male patient with typical features of trichothiodystrophy, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of nucleotide excision repair carried out by a fibroblast cell strain from the patient after ultraviolet exposure was approximately 65% of normal as determined by a method that converted repair patches into quantifiable DNA breaks. UV survival curves showed a reduction in survival only at doses greater than 4 joules per square meter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195225" 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="#22" class="mim-tip-reference" title="Peter, C., Tomczok, J., Hoting, E., Behrendt, H. &lt;strong&gt;Trichothiodystrophy without associated neuroectodermal defects.&lt;/strong&gt; Brit. J. Derm. 139: 137-140, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9764166/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9764166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.1998.02331.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9764166">Peter et al. (1998)</a> described a 4-year-old girl with trichothiodystrophy without associated neuroectodermal defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9764166" 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="#32" class="mim-tip-reference" title="Viprakasit, V., Gibbons, R. J., Broughton, B. C., Tolmie, J. L., Brown, D., Lunt, P., Winter, R. M., Marinoni, S., Stefanini, M., Brueton, L., Lehmann, A. R., Higgs, D. R. &lt;strong&gt;Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy .&lt;/strong&gt; Hum. Molec. Genet. 10: 2797-2802, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11734544/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11734544&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.24.2797&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11734544">Viprakasit et al. (2001)</a> showed that the specific mutations in the ERCC2 gene that cause TTD result in reduced expression of the beta-globin (HBB; <a href="/entry/141900">141900</a>) gene in affected individuals. Eleven TTD patients with characterized mutations in the XPD gene were found to have the hematologic features of beta-thalassemia trait as well as reduced levels of beta-globin synthesis and beta-globin mRNA. All of these parameters were normal in 3 patients with XPD (<a href="/entry/278730">278730</a>). The authors hypothesized that many of the clinical features of TTD may result from inadequate expression of a diverse set of highly expressed genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11734544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Faghri, S., Tamura, D., Kraemer, K. H., DiGiovanna, J. J. &lt;strong&gt;Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.&lt;/strong&gt; J. Med. Genet. 45: 609-621, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18603627/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18603627&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18603627[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058743&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18603627">Faghri et al. (2008)</a> performed a systematic literature review and identified 112 patients with trichothiodystrophy, ranging in age from 12 weeks to 47 years. In addition to hair abnormalities, common reported features were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%; primarily cataract), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%), and defective DNA repair (37%). There were 19 deaths under the age of 10 years (13 related to infection), a 20-fold higher mortality rate than that of the general US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections, and high mortality at a young age. <a href="#10" class="mim-tip-reference" title="Faghri, S., Tamura, D., Kraemer, K. H., DiGiovanna, J. J. &lt;strong&gt;Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.&lt;/strong&gt; J. Med. Genet. 45: 609-621, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18603627/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18603627&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18603627[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058743&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18603627">Faghri et al. (2008)</a> noted that abnormal characteristics at birth and pregnancy complications were unrecognized but common features of TTD, suggesting a role for DNA repair genes in normal fetal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18603627" 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="Hashimoto, S., Egly, J. M. &lt;strong&gt;Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.&lt;/strong&gt; Hum. Molec. Genet. 18: R224-R230, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19808800/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19808800&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp390&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19808800">Hashimoto and Egly (2009)</a> reviewed the clinical features and genetics of TTD, as well as the pathogenesis of nucleotide excision repair defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Brooks, B. P., Thompson, A. H., Clayton, J. A., Chan, C.-C., Tamura, D., Zein, W. M., Blain, D., Hadsall, C., Rowan J., Bowles, K. E., Khan, S. G., Ueda, T., Boyle, J., Oh, K.-S., DiGiovanna, J. J., Kraemer, K. H. &lt;strong&gt;Ocular manifestations of trichothiodystrophy.&lt;/strong&gt; Ophthalmology 118: 2335-2342, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21959366/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21959366&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21959366[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.05.036&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21959366">Brooks et al. (2011)</a> reported the ocular manifestations of the largest cohort to that time of patients with photosensitive or nonphotosensitive trichothiodystrophy or with TTD and xeroderma pigmentosum (XP/TTD; see <a href="/entry/278730">278730</a>). Their case series included 32 participants, aged 1 to 30 years, seen over a 10-year period: 25 had TTD and 7 had XP/TTD. Developmental abnormalities included microcornea (44% TTD), microphthalmia (8% TTD, 14% XP/TTD), nystagmus (40% TTD), and infantile cataract (56% TTD, 86% XP/TTD). Corrective lenses were required by 65% of the participants, and decreased best-corrected visual acuity was present in 28% of TTD patients and 71% of XP/TTD patients. Degenerative changes included dry eye (32% TTD, 57% XP/TTD) and ocular surface disease identified by ocular surface staining with fluorescein (32% TTD) that was usually exhibited by much older patients in the general population. The 2 oldest TTD patients exhibited clinical signs of retinal/macular degeneration. Four XP/TTD patients presented with corneal neovascularization. <a href="#6" class="mim-tip-reference" title="Brooks, B. P., Thompson, A. H., Clayton, J. A., Chan, C.-C., Tamura, D., Zein, W. M., Blain, D., Hadsall, C., Rowan J., Bowles, K. E., Khan, S. G., Ueda, T., Boyle, J., Oh, K.-S., DiGiovanna, J. J., Kraemer, K. H. &lt;strong&gt;Ocular manifestations of trichothiodystrophy.&lt;/strong&gt; Ophthalmology 118: 2335-2342, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21959366/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21959366&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21959366[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.05.036&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21959366">Brooks et al. (2011)</a> concluded that, although many of these ocular manifestations could be ascribed to abnormal development, likely due to abnormalities in basal transcription of critical genes, patients with TTD or XP/TTD might also have a degenerative course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21959366" 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 id="pathogenesis" class="mim-anchor"></a>
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<strong>Pathogenesis</strong>
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<p><a href="#20" class="mim-tip-reference" title="Orioli, D., Compe, E., Nardo, T., Mura, M., Giraudon, C., Botta, E., Arrigoni, L., Peverali, F. A., Egly, J. M., Stefanini, M. &lt;strong&gt;XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.&lt;/strong&gt; Hum. Molec. Genet. 22: 1061-1073, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23221806/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23221806&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds508&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23221806">Orioli et al. (2013)</a> found that skin of TTD patients with mutations in the ERCC2 gene had reduced content of COL6A1 (<a href="/entry/120220">120220</a>), an abundant collagen of skin and connective tissue. In culture, dermal fibroblasts from TTD patients failed to induce COL6A1 upon achieving confluence. XPD skin and cultured XPD fibroblasts with mutations in the ERCC2 gene did not show the same defects. Transfection of wildtype ERCC2 into TTD patient fibroblasts permitted induction of COL6A1 upon confluence. In silico analysis identified a putative SREBP1 (<a href="/entry/184756">184756</a>)-binding site in the COL6A1 promoter, and deletion of this site resulted in increased transcriptional activity from the COL6A1 promoter. Overexpression of wildtype ERCC2 in TTD patient fibroblasts resulted in RNA polymerase II and SP1 (<a href="/entry/189906">189906</a>) occupancy at the COL6A1 promoter, concomitant with loss of SREBP1 binding. Removal of SREBP1 from the COL6A1 promoter was also dependent on ATP hydrolysis. <a href="#20" class="mim-tip-reference" title="Orioli, D., Compe, E., Nardo, T., Mura, M., Giraudon, C., Botta, E., Arrigoni, L., Peverali, F. A., Egly, J. M., Stefanini, M. &lt;strong&gt;XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.&lt;/strong&gt; Hum. Molec. Genet. 22: 1061-1073, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23221806/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23221806&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds508&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23221806">Orioli et al. (2013)</a> concluded that ERCC2 in the TFIIH helicase removes SREBP1 from the COL6A1 promoter in an ATP-dependent manner and that, in TTD fibroblasts, mutated ERCC2 fails to displace the SREBP1 repressor from the COL6A1 promoter, resulting in inability to effect COL6A1 transcriptional upregulation in response to cell confluence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23221806" 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 id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of TTD1 in the families reported by <a href="#3" class="mim-tip-reference" title="Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M. &lt;strong&gt;Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.&lt;/strong&gt; Am. J. Hum. Genet. 63: 1036-1048, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9758621/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9758621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9758621">Botta et al. (1998)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758621" 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 id="molecularGenetics" class="mim-anchor"></a>
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<p>By sequence analysis of the ERCC2 gene in a patient with trichothiodystrophy, <a href="#28" class="mim-tip-reference" title="Takayama, K., Danks, D. M., Salazar, E. P., Cleaver, J. E., Weber, C. A. &lt;strong&gt;DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.&lt;/strong&gt; Hum. Mutat. 9: 519-525, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9195225/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9195225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1997)9:6&lt;519::AID-HUMU4&gt;3.0.CO;2-X&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9195225">Takayama et al. (1997)</a> identified compound heterozygous mutations: a leu461-to-val (L461V; <a href="/entry/126340#0001">126340.0001</a>) substitution and a deletion of amino acids 716-730 on one allele and an ala725-to-pro (A725P; <a href="/entry/126340#0003">126340.0003</a>) substitution on the other allele. The L461V mutation had been reported in a patient with xeroderma pigmentosum group D by <a href="#11" class="mim-tip-reference" title="Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C. &lt;strong&gt;Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.&lt;/strong&gt; Hum. Molec. Genet. 3: 1783-1788, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7849702/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7849702&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.10.1783&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7849702">Frederick et al. (1994)</a> and in 2 other patients with trichothiodystrophy (see <a href="#29" class="mim-tip-reference" title="Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A. &lt;strong&gt;Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.&lt;/strong&gt; Am. J. Hum. Genet. 58: 263-270, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8571952/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8571952&lt;/a&gt;]" pmid="8571952">Takayama et al., 1996</a>), whereas the A725P mutation had not previously been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9195225+8571952+7849702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M. &lt;strong&gt;Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.&lt;/strong&gt; Am. J. Hum. Genet. 63: 1036-1048, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9758621/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9758621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9758621">Botta et al. (1998)</a> determined the mutations and the pattern of inheritance of the XPD alleles in 11 patients with trichothiodystrophy identified in Italy, including patients reported by <a href="#26" class="mim-tip-reference" title="Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R., Trevisan, G. &lt;strong&gt;DNA repair investigations in nine Italian patients affected by trichothiodystrophy.&lt;/strong&gt; Mutat. Res. 273: 119-125, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1372095/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1372095&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0921-8777(92)90073-c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1372095">Stefanini et al. (1992)</a> and <a href="#1" class="mim-tip-reference" title="Battistella, P. A., Peserico, A. &lt;strong&gt;Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.&lt;/strong&gt; Childs Nerv. Syst. 12: 110-113, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8674078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8674078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00819509&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8674078">Battistella and Peserico (1996)</a>. In all of the patients, the hair abnormalities diagnostic for TTD were associated with different disease severity but similar cellular photosensitivity. The authors identified 8 causative mutations, 4 of which had not previously been described, either in TTD or XP cases, supporting their hypothesis that the mutations responsible for TTD are different from those found in other pathologic phenotypes. The arg112-to-his (R112H; <a href="/entry/126340#0006">126340.0006</a>) mutation was the most common one found in the Italian patients, present in homozygosity in 5 patients and in compound heterozygosity in 2 patients. Microscopic study of the hair showed pili torti, trichoschisis, and trichorrhexis nodosa. Polarization microscopy revealed a typical appearance of alternating light and dark bands, giving a 'tiger tail' pattern. Photosensitivity was reported in all patients, in association with the other symptoms typical of TTD, namely, ichthyosis, delayed physical and mental development, nail dysplasia, a face characterized by receding chin, small nose, and large ears, and microcephaly. Seven patients were still alive at ages 4 to 30 years; the 4 patients who died during early infancy showed severe physical and mental retardation and suffered from frequent respiratory infections. The 3 oldest patients, all women, aged 30, 20, and 21 years, had moderate mental and physical handicaps. They developed freckles during childhood, but progression to malignancy had not been observed. They had short stature (140 cm), began to menstruate at age 18 years, and were no longer prone to infections, although they suffered moderate infections during early childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9758621+8674078+1372095" 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="#31" class="mim-tip-reference" title="Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J. &lt;strong&gt;A temperature-sensitive disorder in basal transcription and DNA repair in humans.&lt;/strong&gt; Nature Genet. 27: 299-303, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242112&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85864&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242112">Vermeulen et al. (2001)</a> showed that an arg658-to-cys (R658C) mutation in the XPD component of the TFIIH transcription factor was responsible for thermolability of that factor and underlay the temperature-sensitive clinical disorder; see <a href="/entry/126340#0007">126340.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. &lt;strong&gt;Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.&lt;/strong&gt; Hum. Molec. Genet. 10: 2539-2547, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11709541/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11709541&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.22.2539&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11709541">Broughton et al. (2001)</a> identified 2 patients with some features of both XP and TTD. A 3-year-old girl with sun sensitivity and mental and physical developmental delay had compound heterozygous mutations in the ERCC2 gene (<a href="/entry/126340#0011">126340.0011</a>-<a href="/entry/126340#0012">126340.0012</a>). Cultured cells from this patient demonstrated barely detectable levels of nucleotide excision repair. The other patient, a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of XP, had an arg112-to-his mutation (R112H; <a href="/entry/126340#0006">126340.0006</a>) seen previously in TTD patients, and a leu485-to-pro mutation (L485P; <a href="/entry/126340#0013">126340.0013</a>) on the other allele. The level of UV damage repair in the second patient was substantially higher than that in other patients with the same mutation. With both patients, polarized light microscopy revealed a tiger-tail appearance of the hair, and amino acid analysis of the hairshafts showed levels of sulfur-containing proteins between those of normal and TTD individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J. &lt;strong&gt;Premature aging in mice deficient in DNA repair and transcription.&lt;/strong&gt; Science 296: 1276-1279, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11950998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11950998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1070174&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11950998">De Boer et al. (2002)</a> found that mice with the arg722-to-trp (R722W; <a href="/entry/126340#0014">126340.0014</a>) mutation in ERCC2 had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. TTD mice carrying an additional mutation in XPA (<a href="/entry/611153">611153</a>), which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. <a href="#9" class="mim-tip-reference" title="de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J. &lt;strong&gt;Premature aging in mice deficient in DNA repair and transcription.&lt;/strong&gt; Science 296: 1276-1279, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11950998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11950998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1070174&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11950998">De Boer et al. (2002)</a> hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11950998" 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 id="seeAlso" class="mim-anchor"></a>
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<a href="#Itin1990" class="mim-tip-reference" title="Itin, P. H., Pittelkow, M. R. &lt;strong&gt;Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.&lt;/strong&gt; J. Am. Acad. Derm. 22: 705-717, 1990.">Itin and Pittelkow (1990)</a>; <a href="#Stary1996" class="mim-tip-reference" title="Stary, A., Sarasin, A. &lt;strong&gt;The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes.&lt;/strong&gt; Cancer Surv. 26: 155-171, 1996.">Stary and Sarasin (1996)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
<a id="Battistella1996" class="mim-anchor"></a>
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Battistella, P. A., Peserico, A.
<strong>Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.</strong>
Childs Nerv. Syst. 12: 110-113, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8674078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8674078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8674078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00819509" target="_blank">Full Text</a>]
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<a id="Blomquist1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Blomquist, H. K., Back, O., Fagerlund, M., Holmgren, G., Stecksen-Blicks, C.
<strong>Tay or IBIDS syndrome: a case with growth and mental retardation, congenital ichthyosis and brittle hair.</strong>
Acta Paediat. Scand. 80: 1241-1245, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1785299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1785299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1785299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.1991.tb11817.x" target="_blank">Full Text</a>]
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<a id="Botta1998" class="mim-anchor"></a>
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Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M.
<strong>Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.</strong>
Am. J. Hum. Genet. 63: 1036-1048, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302063" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Botta2021" class="mim-anchor"></a>
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Botta, E., Theil, A. F., Raams, A., Caligiuri, G., Giachetti, S., Bione, S., Accadia, M., Lombardi, A., Smith, D. E. C., Mendes, M. I., Swagemakers, S. M. A., van der Spek, P. J., Salomons, G. S., Hoeijmakers, J. H. J., Yesodharan, D., Nampoothiri, S., Ogi, T., Lehmann, A. R., Orioli, D., Vermeulen, W.
<strong>Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.</strong>
Hum. Molec. Genet. 30: 1711-1720, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909043</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33909043[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=33909043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddab123" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Braun-Falco1981" class="mim-anchor"></a>
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<p class="mim-text-font">
Braun-Falco, O., Ring, J., Butenandt, O., Selzle, D., Landthaler, M.
<strong>Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionsstorungen. Kasuistischer Bericht ueber zwei Geschwister.</strong>
Hautarzt 33: 67-74, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7228665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7228665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7228665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="Brooks2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brooks, B. P., Thompson, A. H., Clayton, J. A., Chan, C.-C., Tamura, D., Zein, W. M., Blain, D., Hadsall, C., Rowan J., Bowles, K. E., Khan, S. G., Ueda, T., Boyle, J., Oh, K.-S., DiGiovanna, J. J., Kraemer, K. H.
<strong>Ocular manifestations of trichothiodystrophy.</strong>
Ophthalmology 118: 2335-2342, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21959366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21959366</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21959366[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=21959366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ophtha.2011.05.036" target="_blank">Full Text</a>]
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<a id="Broughton2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R.
<strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong>
Hum. Molec. Genet. 10: 2539-2547, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/10.22.2539" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Crovato1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Crovato, F., Borrone, F., Rebora, A.
<strong>Trichothiodystrophy--BIDS, IBIDS and PIBIDS? (Letter)</strong>
Brit. J. Derm. 108: 247 only, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6824580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6824580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6824580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2133.1983.tb00068.x" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="de Boer2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J.
<strong>Premature aging in mice deficient in DNA repair and transcription.</strong>
Science 296: 1276-1279, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11950998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.1070174" target="_blank">Full Text</a>]
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<a id="Faghri2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Faghri, S., Tamura, D., Kraemer, K. H., DiGiovanna, J. J.
<strong>Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.</strong>
J. Med. Genet. 45: 609-621, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18603627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18603627</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18603627[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=18603627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2008.058743" target="_blank">Full Text</a>]
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<a id="Frederick1994" class="mim-anchor"></a>
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Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C.
<strong>Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.</strong>
Hum. Molec. Genet. 3: 1783-1788, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/3.10.1783" target="_blank">Full Text</a>]
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<a id="Happle1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Happle, R., Traupe, H., Grobe, H., Bonsmann, G.
<strong>The Tay syndrome (congenital ichthyosis with trichothiodystrophy).</strong>
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[<a href="https://doi.org/10.1007/BF00443212" target="_blank">Full Text</a>]
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Hashimoto, S., Egly, J. M.
<strong>Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.</strong>
Hum. Molec. Genet. 18: R224-R230, 2009.
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[<a href="https://doi.org/10.1093/hmg/ddp390" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Itin, P. H., Pittelkow, M. R.
<strong>Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.</strong>
J. Am. Acad. Derm. 22: 705-717, 1990.
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[<a href="https://doi.org/10.1016/0190-9622(90)70096-z" target="_blank">Full Text</a>]
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<a id="King1984" class="mim-anchor"></a>
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King, M. D., Gummer, C. L., Stephenson, J. B. P.
<strong>Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.</strong>
J. Med. Genet. 21: 286-289, 1984.
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[<a href="https://doi.org/10.1136/jmg.21.4.286" target="_blank">Full Text</a>]
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Kleijer, W. J., Beemer, F. A., Boom, B. W.
<strong>Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320520220" target="_blank">Full Text</a>]
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<a id="Marinoni1990" class="mim-anchor"></a>
<div class="">
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Marinoni, S., Trevisan, G., Gaeta, G., Not, T., Lagomarsini, P., Stevanini, M., Nazzaro, V., Ermacora, E.
<strong>Trichothiodystrophy associated with group D xeroderma pigmentosum in seven Italian patients.</strong>
Third Congress of the European Society of Paediatric Dermatology, Bordeaux, France 1990.
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Nuzzo, F., Stefanini, M., Colognola, R., Zei, G., Santachiara, A. S., Lagomarsini, P., Casati, S., Marinoni, S.
<strong>Association of two rare hereditary disorders, xeroderma pigmentosum and trichothiodystrophy, in three families from north-east Italy. (Abstract)</strong>
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Nuzzo, F., Zei, G., Stefanini, M., Colognola, R., Santachiara, A. S., Lagomarsini, P., Marinoni, S., Salvaneschi, L.
<strong>Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.</strong>
J. Med. Genet. 27: 21-25, 1990.
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[<a href="https://doi.org/10.1136/jmg.27.1.21" target="_blank">Full Text</a>]
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<a id="Orioli2013" class="mim-anchor"></a>
<div class="">
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Orioli, D., Compe, E., Nardo, T., Mura, M., Giraudon, C., Botta, E., Arrigoni, L., Peverali, F. A., Egly, J. M., Stefanini, M.
<strong>XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.</strong>
Hum. Molec. Genet. 22: 1061-1073, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23221806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23221806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23221806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/dds508" target="_blank">Full Text</a>]
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<a id="Peserico1992" class="mim-anchor"></a>
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Peserico, A., Battistella, P. A., Bertoli, P.
<strong>MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.</strong>
Neuroradiology 34: 316-317, 1992.
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[<a href="https://doi.org/10.1007/BF00588190" target="_blank">Full Text</a>]
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Peter, C., Tomczok, J., Hoting, E., Behrendt, H.
<strong>Trichothiodystrophy without associated neuroectodermal defects.</strong>
Brit. J. Derm. 139: 137-140, 1998.
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[<a href="https://doi.org/10.1046/j.1365-2133.1998.02331.x" target="_blank">Full Text</a>]
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<a id="Price1980" class="mim-anchor"></a>
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<p class="mim-text-font">
Price, V. H., Odom, R. B., Ward, W. H., Jones, F. T.
<strong>Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.</strong>
Arch. Derm. 116: 1375-1384, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7458366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7458366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7458366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.116.12.1375" target="_blank">Full Text</a>]
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<a id="Rebora1988" class="mim-anchor"></a>
<div class="">
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Rebora, A., Crovato, F.
<strong>Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome. (Letter)</strong>
Hum. Genet. 78: 106-108, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3338790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3338790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3338790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00291250" target="_blank">Full Text</a>]
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<a id="Stary1996" class="mim-anchor"></a>
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Stary, A., Sarasin, A.
<strong>The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes.</strong>
Cancer Surv. 26: 155-171, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8783572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8783572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8783572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="Stefanini1992" class="mim-anchor"></a>
<div class="">
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Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R., Trevisan, G.
<strong>DNA repair investigations in nine Italian patients affected by trichothiodystrophy.</strong>
Mutat. Res. 273: 119-125, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0921-8777(92)90073-c" target="_blank">Full Text</a>]
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<a id="Stefanini1993" class="mim-anchor"></a>
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Stefanini, M., Lagomarsini, P., Giliani, S., Nardo, T., Botta, E., Peserico, A., Kleijer, W. J., Lehmann, A. R., Sarasin, A.
<strong>Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.</strong>
Carcinogenesis 14: 1101-1105, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8508495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8508495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8508495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/carcin/14.6.1101" target="_blank">Full Text</a>]
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<a id="Takayama1997" class="mim-anchor"></a>
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Takayama, K., Danks, D. M., Salazar, E. P., Cleaver, J. E., Weber, C. A.
<strong>DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.</strong>
Hum. Mutat. 9: 519-525, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6&lt;519::AID-HUMU4&gt;3.0.CO;2-X" target="_blank">Full Text</a>]
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<a id="Takayama1996" class="mim-anchor"></a>
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Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A.
<strong>Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.</strong>
Am. J. Hum. Genet. 58: 263-270, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Tay1971" class="mim-anchor"></a>
<div class="">
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Tay, C. H.
<strong>Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation: a new recessive disorder.</strong>
Arch. Derm. 104: 4-13, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5120162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5120162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5120162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Vermeulen2001" class="mim-anchor"></a>
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Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J.
<strong>A temperature-sensitive disorder in basal transcription and DNA repair in humans.</strong>
Nature Genet. 27: 299-303, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/85864" target="_blank">Full Text</a>]
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<a id="Viprakasit2001" class="mim-anchor"></a>
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Viprakasit, V., Gibbons, R. J., Broughton, B. C., Tolmie, J. L., Brown, D., Lunt, P., Winter, R. M., Marinoni, S., Stefanini, M., Brueton, L., Lehmann, A. R., Higgs, D. R.
<strong>Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy .</strong>
Hum. Molec. Genet. 10: 2797-2802, 2001.
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[<a href="https://doi.org/10.1093/hmg/10.24.2797" target="_blank">Full Text</a>]
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<strong>#</strong> 601675
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TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
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<em>Alternative titles; symbols</em>
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TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP<br />
ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION<br />
TAY SYNDROME<br />
TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS<br />
ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY<br />
PIBIDS SYNDROME
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<strong>ORPHA:</strong> 33364, 670; &nbsp;
<strong>DO:</strong> 0111873; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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19q13.32
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Trichothiodystrophy 1, photosensitive
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601675
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Autosomal recessive
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3
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ERCC2
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126340
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that photosensitive trichothiodystrophy-1 (TTD1) is caused by homozygous or compound heterozygous mutation in the ERCC2/XPD gene (126340), which encodes a helicase subunit of transcription/repair factor TFIIH, on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). </p><p><strong><em>Genetic Heterogeneity of Trichothiodystrophy</em></strong></p><p>
Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); TTD6 (616943), caused by mutation in the GTF2E2 gene (189964); TTD7 (618546), caused by mutation in the TARS gene (187790); TTD8 (619691), caused by mutation in the AARS1 gene (601065); and TTD9 (619692), caused by mutation in the MARS1 gene (156560).</p>
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<strong>Clinical Features</strong>
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<p>In 2 brothers and a sister, with first-cousin parents of Chinese extraction, Tay (1971) described a 'new' autosomal recessive disorder characterized by nonbullous ichthyosiform erythroderma, growth and mental retardation, somewhat progeria-like appearance, and short, sparse, lusterless hair that microscopically showed pili torti and trichorrhexis nodosa. One of the children had hypogammaglobulinemia, and one died at age 2 months of intestinal obstruction. Erythroderma was particularly striking at birth. </p><p>Price et al. (1980) introduced the term trichothiodystrophy for sulfur-deficient brittle hair. They noted that trichothiodystrophy was a marker for neuroectodermal symptoms of brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. Approximately half of TTD patients display photosensitivity, correlated with a nucleotide excision repair (NER) defect. </p><p>King et al. (1984) described 2 cases of what they called trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt in unrelated children. Case 1 was a Scottish boy who was restudied by Botta et al. (2021) (see TTD8, 619691) and found to have mutations in the AARS1 gene (see 601065.0008). Case 2 was a 2.5-year-old girl, born of nonconsanguineous Scottish parents, who had jerky eye movements, limb stiffness, and failure to thrive, with length, weight, and head circumference below the 3rd centile. Her face was unusual and she had sparse and brittle hair with short stubbly eyebrows. Upper eyelashes were normal, but lower eyelashes were sparse. The nails were hypoplastic and spoon-shaped. Her skin was dry and photosensitive. Bilateral central nuclear cataracts, head lag, adductor spasm, scissoring of the lower limbs, and brisk tendon reflexes were also found. At 2.5 years, she functioned at an 18 month level, crawling and walking with support, but with marked truncal ataxia and pyramidal signs. Height, weight, and head circumference were still 2 SD below the 3rd centile, and the trichocutaneous features were unchanged. King et al. (1984) suggested that this disorder is the same as the Amish brittle hair syndrome (234050) and the Sabinas brittle hair syndrome (211390). </p><p>Happle et al. (1984) reported a patient with congenital ichthyosis with trichothiodystrophy (Tay syndrome) and reviewed 12 previously reported patients. Dysplastic nails are frequently observed. As in autosomal dominant ichthyosis vulgaris, flexural areas of the limbs may be spared. Lack of subcutaneous fatty tissue is characteristic. In women, breast tissue may be completely absent in spite of normal development of the nipples. The face has an aged appearance due to lack of subcutaneous fat. Low birth weight and short stature (below 3rd centile at all ages) are features and all patients have mental retardation. </p><p>Braun-Falco et al. (1981) reported an affected brother and sister. </p><p>Nuzzo et al. (1986) reported inbred Italian kindreds in which TTD and xeroderma pigmentosum of complement group D (278730) were found to be cosegregating, suggesting linkage of the 2 disorders. TTD features in the patients included hair shaft abnormalities, ichthyosis, immature sexual development, short stature, and peculiar facies. Nuzzo et al. (1990) checked consanguinity within and among 3 families by construction of genealogic trees, typing of blood markers, and a surname analysis. The results strengthened the hypothesis that in at least 2 of the 3 families, the genetic defects represented by the combined phenotype were of the same origin, as a consequence of remote inbreeding. </p><p>In the son of a Finnish uncle-niece marriage, Blomquist et al. (1991) observed Tay or IBIDS syndrome, which was manifested by growth and mental retardation, congenital ichthyosis, and brittle hair. The boy suffered from recurrent infections and died at the age of 3 years from pneumonia. The authors also reviewed 15 cases from the literature. A birth weight less than 2,500 grams was found in 8 of 11 cases, birth length less than 40 cm in 3 of 6, hypogonadism in 9 of 9, cataract in 7 of 8, frequent infections in 7 of 7, and microcephaly in 6 of 6; all of these features were also present in their patient. </p><p>Peserico et al. (1992) reported a 12-year-old girl with TTD1. Failure to thrive and developmental delay was noted in the first year of life, with severe psychomotor retardation noted after age 2. She had recurrent infections and showed extreme photosensitivity. On examination at age 12, she had moderate ichthyosis and her scalp hair was short, brittle, and dry. Her weight was below the 3rd centile and her height and head circumference were at the 3rd centile. She had a spastic gait with increased muscle tone. Her total IQ was 56. On ophthalmologic examination showed reduced visual acuity and pale optic discs. MRI showed diffuse high signal throughout the cerebral white matter on T2-weighted images. </p><p>Kleijer et al. (1994) described a female child with what Crovato et al. (1983) and Rebora and Crovato (1988) referred to as the PIBI(D)S syndrome with trichothiodystrophy. She had photosensitivity, ichthyosis, brittle hair, impaired intelligence, possibly decreased fertility, and short stature. A remarkable feature was the intermittent character of the scalp hair loss during infectious periods, such as with pneumonia. The child died unexpectedly at home during sleep at the age of 2 years and 8 months. Easy suntanning suggested photosensitivity and prompted DNA repair studies, which demonstrated reduced UV-induced DNA repair synthesis. </p><p>Battistella and Peserico (1996) reported a 6-year-old boy, previously reported by Marinoni et al. (1990) and Stefanini et al. (1992) as TTD8PV, with PIBIDS. The child showed developmental delay at age 6 months and severe psychomotor retardation after age 2 years. At the age of 20 months, he was noted to have brittle hair with trichothiodystrophy, photosensitivity, and ichthyosis. At age 6 years, his height and weight were below the 3rd centile. He had poor gross and fine motor coordination, with no ataxia or spasticity. His IQ was 45. Ophthalmic examination showed bilateral cataracts. He had an unusual facies, with a receding chin and protruding ears; his nose was small and thin and his mouth was triangular in shape. MRI showed diffuse CNS dysmyelination on T2-weighted images. Light microscopy of the hair shaft showed trichoschisis. Stefanini et al. (1993) stated that all 8 photosensitive TTD patients identified in Italy, including patient TTD8PV, show the same cellular phenotype (low levels of DNA repair synthesis and of survival after UV light) and have all been classified into XP group D. </p><p>Takayama et al. (1997) studied a male patient with typical features of trichothiodystrophy, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of nucleotide excision repair carried out by a fibroblast cell strain from the patient after ultraviolet exposure was approximately 65% of normal as determined by a method that converted repair patches into quantifiable DNA breaks. UV survival curves showed a reduction in survival only at doses greater than 4 joules per square meter. </p><p>Peter et al. (1998) described a 4-year-old girl with trichothiodystrophy without associated neuroectodermal defects. </p><p>Viprakasit et al. (2001) showed that the specific mutations in the ERCC2 gene that cause TTD result in reduced expression of the beta-globin (HBB; 141900) gene in affected individuals. Eleven TTD patients with characterized mutations in the XPD gene were found to have the hematologic features of beta-thalassemia trait as well as reduced levels of beta-globin synthesis and beta-globin mRNA. All of these parameters were normal in 3 patients with XPD (278730). The authors hypothesized that many of the clinical features of TTD may result from inadequate expression of a diverse set of highly expressed genes. </p><p>Faghri et al. (2008) performed a systematic literature review and identified 112 patients with trichothiodystrophy, ranging in age from 12 weeks to 47 years. In addition to hair abnormalities, common reported features were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%; primarily cataract), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%), and defective DNA repair (37%). There were 19 deaths under the age of 10 years (13 related to infection), a 20-fold higher mortality rate than that of the general US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections, and high mortality at a young age. Faghri et al. (2008) noted that abnormal characteristics at birth and pregnancy complications were unrecognized but common features of TTD, suggesting a role for DNA repair genes in normal fetal development. </p><p>Hashimoto and Egly (2009) reviewed the clinical features and genetics of TTD, as well as the pathogenesis of nucleotide excision repair defects. </p><p>Brooks et al. (2011) reported the ocular manifestations of the largest cohort to that time of patients with photosensitive or nonphotosensitive trichothiodystrophy or with TTD and xeroderma pigmentosum (XP/TTD; see 278730). Their case series included 32 participants, aged 1 to 30 years, seen over a 10-year period: 25 had TTD and 7 had XP/TTD. Developmental abnormalities included microcornea (44% TTD), microphthalmia (8% TTD, 14% XP/TTD), nystagmus (40% TTD), and infantile cataract (56% TTD, 86% XP/TTD). Corrective lenses were required by 65% of the participants, and decreased best-corrected visual acuity was present in 28% of TTD patients and 71% of XP/TTD patients. Degenerative changes included dry eye (32% TTD, 57% XP/TTD) and ocular surface disease identified by ocular surface staining with fluorescein (32% TTD) that was usually exhibited by much older patients in the general population. The 2 oldest TTD patients exhibited clinical signs of retinal/macular degeneration. Four XP/TTD patients presented with corneal neovascularization. Brooks et al. (2011) concluded that, although many of these ocular manifestations could be ascribed to abnormal development, likely due to abnormalities in basal transcription of critical genes, patients with TTD or XP/TTD might also have a degenerative course. </p>
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<strong>Pathogenesis</strong>
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<p>Orioli et al. (2013) found that skin of TTD patients with mutations in the ERCC2 gene had reduced content of COL6A1 (120220), an abundant collagen of skin and connective tissue. In culture, dermal fibroblasts from TTD patients failed to induce COL6A1 upon achieving confluence. XPD skin and cultured XPD fibroblasts with mutations in the ERCC2 gene did not show the same defects. Transfection of wildtype ERCC2 into TTD patient fibroblasts permitted induction of COL6A1 upon confluence. In silico analysis identified a putative SREBP1 (184756)-binding site in the COL6A1 promoter, and deletion of this site resulted in increased transcriptional activity from the COL6A1 promoter. Overexpression of wildtype ERCC2 in TTD patient fibroblasts resulted in RNA polymerase II and SP1 (189906) occupancy at the COL6A1 promoter, concomitant with loss of SREBP1 binding. Removal of SREBP1 from the COL6A1 promoter was also dependent on ATP hydrolysis. Orioli et al. (2013) concluded that ERCC2 in the TFIIH helicase removes SREBP1 from the COL6A1 promoter in an ATP-dependent manner and that, in TTD fibroblasts, mutated ERCC2 fails to displace the SREBP1 repressor from the COL6A1 promoter, resulting in inability to effect COL6A1 transcriptional upregulation in response to cell confluence. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of TTD1 in the families reported by Botta et al. (1998) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>By sequence analysis of the ERCC2 gene in a patient with trichothiodystrophy, Takayama et al. (1997) identified compound heterozygous mutations: a leu461-to-val (L461V; 126340.0001) substitution and a deletion of amino acids 716-730 on one allele and an ala725-to-pro (A725P; 126340.0003) substitution on the other allele. The L461V mutation had been reported in a patient with xeroderma pigmentosum group D by Frederick et al. (1994) and in 2 other patients with trichothiodystrophy (see Takayama et al., 1996), whereas the A725P mutation had not previously been reported. </p><p>Botta et al. (1998) determined the mutations and the pattern of inheritance of the XPD alleles in 11 patients with trichothiodystrophy identified in Italy, including patients reported by Stefanini et al. (1992) and Battistella and Peserico (1996). In all of the patients, the hair abnormalities diagnostic for TTD were associated with different disease severity but similar cellular photosensitivity. The authors identified 8 causative mutations, 4 of which had not previously been described, either in TTD or XP cases, supporting their hypothesis that the mutations responsible for TTD are different from those found in other pathologic phenotypes. The arg112-to-his (R112H; 126340.0006) mutation was the most common one found in the Italian patients, present in homozygosity in 5 patients and in compound heterozygosity in 2 patients. Microscopic study of the hair showed pili torti, trichoschisis, and trichorrhexis nodosa. Polarization microscopy revealed a typical appearance of alternating light and dark bands, giving a 'tiger tail' pattern. Photosensitivity was reported in all patients, in association with the other symptoms typical of TTD, namely, ichthyosis, delayed physical and mental development, nail dysplasia, a face characterized by receding chin, small nose, and large ears, and microcephaly. Seven patients were still alive at ages 4 to 30 years; the 4 patients who died during early infancy showed severe physical and mental retardation and suffered from frequent respiratory infections. The 3 oldest patients, all women, aged 30, 20, and 21 years, had moderate mental and physical handicaps. They developed freckles during childhood, but progression to malignancy had not been observed. They had short stature (140 cm), began to menstruate at age 18 years, and were no longer prone to infections, although they suffered moderate infections during early childhood. </p><p>Vermeulen et al. (2001) showed that an arg658-to-cys (R658C) mutation in the XPD component of the TFIIH transcription factor was responsible for thermolability of that factor and underlay the temperature-sensitive clinical disorder; see 126340.0007. </p><p>Broughton et al. (2001) identified 2 patients with some features of both XP and TTD. A 3-year-old girl with sun sensitivity and mental and physical developmental delay had compound heterozygous mutations in the ERCC2 gene (126340.0011-126340.0012). Cultured cells from this patient demonstrated barely detectable levels of nucleotide excision repair. The other patient, a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of XP, had an arg112-to-his mutation (R112H; 126340.0006) seen previously in TTD patients, and a leu485-to-pro mutation (L485P; 126340.0013) on the other allele. The level of UV damage repair in the second patient was substantially higher than that in other patients with the same mutation. With both patients, polarized light microscopy revealed a tiger-tail appearance of the hair, and amino acid analysis of the hairshafts showed levels of sulfur-containing proteins between those of normal and TTD individuals. </p>
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<strong>Animal Model</strong>
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<p>De Boer et al. (2002) found that mice with the arg722-to-trp (R722W; 126340.0014) mutation in ERCC2 had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. TTD mice carrying an additional mutation in XPA (611153), which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. De Boer et al. (2002) hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis. </p>
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<strong>See Also:</strong>
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Itin and Pittelkow (1990); Stary and Sarasin (1996)
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<strong>REFERENCES</strong>
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<li>
<p class="mim-text-font">
Battistella, P. A., Peserico, A.
<strong>Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.</strong>
Childs Nerv. Syst. 12: 110-113, 1996.
[PubMed: 8674078]
[Full Text: https://doi.org/10.1007/BF00819509]
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</li>
<li>
<p class="mim-text-font">
Blomquist, H. K., Back, O., Fagerlund, M., Holmgren, G., Stecksen-Blicks, C.
<strong>Tay or IBIDS syndrome: a case with growth and mental retardation, congenital ichthyosis and brittle hair.</strong>
Acta Paediat. Scand. 80: 1241-1245, 1991.
[PubMed: 1785299]
[Full Text: https://doi.org/10.1111/j.1651-2227.1991.tb11817.x]
</p>
</li>
<li>
<p class="mim-text-font">
Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M.
<strong>Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.</strong>
Am. J. Hum. Genet. 63: 1036-1048, 1998.
[PubMed: 9758621]
[Full Text: https://doi.org/10.1086/302063]
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<li>
<p class="mim-text-font">
Botta, E., Theil, A. F., Raams, A., Caligiuri, G., Giachetti, S., Bione, S., Accadia, M., Lombardi, A., Smith, D. E. C., Mendes, M. I., Swagemakers, S. M. A., van der Spek, P. J., Salomons, G. S., Hoeijmakers, J. H. J., Yesodharan, D., Nampoothiri, S., Ogi, T., Lehmann, A. R., Orioli, D., Vermeulen, W.
<strong>Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.</strong>
Hum. Molec. Genet. 30: 1711-1720, 2021.
[PubMed: 33909043]
[Full Text: https://doi.org/10.1093/hmg/ddab123]
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</li>
<li>
<p class="mim-text-font">
Braun-Falco, O., Ring, J., Butenandt, O., Selzle, D., Landthaler, M.
<strong>Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionsstorungen. Kasuistischer Bericht ueber zwei Geschwister.</strong>
Hautarzt 33: 67-74, 1981.
[PubMed: 7228665]
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<li>
<p class="mim-text-font">
Brooks, B. P., Thompson, A. H., Clayton, J. A., Chan, C.-C., Tamura, D., Zein, W. M., Blain, D., Hadsall, C., Rowan J., Bowles, K. E., Khan, S. G., Ueda, T., Boyle, J., Oh, K.-S., DiGiovanna, J. J., Kraemer, K. H.
<strong>Ocular manifestations of trichothiodystrophy.</strong>
Ophthalmology 118: 2335-2342, 2011.
[PubMed: 21959366]
[Full Text: https://doi.org/10.1016/j.ophtha.2011.05.036]
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<li>
<p class="mim-text-font">
Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R.
<strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong>
Hum. Molec. Genet. 10: 2539-2547, 2001.
[PubMed: 11709541]
[Full Text: https://doi.org/10.1093/hmg/10.22.2539]
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<li>
<p class="mim-text-font">
Crovato, F., Borrone, F., Rebora, A.
<strong>Trichothiodystrophy--BIDS, IBIDS and PIBIDS? (Letter)</strong>
Brit. J. Derm. 108: 247 only, 1983.
[PubMed: 6824580]
[Full Text: https://doi.org/10.1111/j.1365-2133.1983.tb00068.x]
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</li>
<li>
<p class="mim-text-font">
de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J.
<strong>Premature aging in mice deficient in DNA repair and transcription.</strong>
Science 296: 1276-1279, 2002.
[PubMed: 11950998]
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King, M. D., Gummer, C. L., Stephenson, J. B. P.
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