3225 lines
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Entry
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- #276600 - TYROSINEMIA, TYPE II; TYRSN2
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- OMIM
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<p>
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<span class="h4">#276600</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/276600"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS276700"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=TYROSINEMIA, TYPE II" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8772&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK608431/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7282" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=276600[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
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<div id="mimNewbornScreeningFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Tyrosine.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Tryosine-Elevated-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
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</div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=28378" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/3b39533d-3e10-4422-995c-0e8bc51d2142/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050725" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/276600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001141/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050725" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:276600" 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>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124287008, 4887000<br />
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<strong>ORPHA:</strong> 28378<br />
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<strong>DO:</strong> 0050725<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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276600
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TYROSINEMIA, TYPE II; TYRSN2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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RICHNER-HANHART SYNDROME<br />
|
|
TYROSINE AMINOTRANSFERASE DEFICIENCY<br />
|
|
TAT DEFICIENCY<br />
|
|
TYROSINE TRANSAMINASE DEFICIENCY<br />
|
|
KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY<br />
|
|
OREGON TYPE TYROSINEMIA<br />
|
|
TYROSINOSIS, OCULOCUTANEOUS TYPE
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<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/16/617?start=-3&limit=10&highlight=617">
|
|
16q22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Tyrosinemia, type II
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276600"> 276600 </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">
|
|
TAT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613018"> 613018 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/276600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS276700" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/276600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/276600" 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> Eyes </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Herpetiform corneal ulcers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4020911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4020911</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007812</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Skin </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Painful punctate keratoses of digits, palms, and soles<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Neuro </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> 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> <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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Growth </strong>
|
|
</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>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tyrosinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56595005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56595005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271847005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271847005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190694001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190694001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E70.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E70.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268483</a>, <a href="https://bioportal.bioontology.org/search?q=C0268486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268486</a>, <a href="https://bioportal.bioontology.org/search?q=C1879362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1879362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003231" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003231</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003231" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003231</a>]</span><br /> - Tyrosine transaminase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4887000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4887000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124287008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124287008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268487</a>]</span><br /> - Normal p-hydroxyphenylpyruvic acid oxidase<br /> - Normal phenylalanine level<br /> - Hydroxyphenylpyruvic aciduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848678</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003161" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003161</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003161" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003161</a>]</span><br /> - Soluble tyrosine aminotransferase (TAT) deficiency<br /> - Phenylaceticacidemia<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Tyrosinemia
|
|
- <a href="/phenotypicSeries/PS276700">PS276700</a>
|
|
- 3 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/12/899?start=-3&limit=10&highlight=899"> 12q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276710"> Tyrosinemia, type III </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">
|
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<a href="/entry/276710"> 276710 </a>
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<p>A number sign (#) is used with this entry because tyrosinemia type II (TYRSN2) is caused by homozygous or compound heterozygous mutation in the tyrosine aminotransferase gene (TAT; <a href="/entry/613018">613018</a>) on chromosome 16q22.</p>
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<p>Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (<a href="#14" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" 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="#19" class="mim-tip-reference" title="Richner, H. <strong>Hornhautaffektion bei Keratoma palmare et plantare hereditarium.</strong> Klin. Monatsbl. Augenheilkd. 100: 580-588, 1938."None>Richner (1938)</a> and <a href="#10" class="mim-tip-reference" title="Hanhart, E. <strong>Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmaessig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveraenderungen des Auges (Ektodermatosyndrom).</strong> Dermatologica 94: 286-308, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18901242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18901242</a>]" pmid="18901242">Hanhart (1947)</a> described an oculocutaneous syndrome characterized by herpetiform corneal ulcers and painful punctate keratoses of digits, palms, and soles. <a href="#19" class="mim-tip-reference" title="Richner, H. <strong>Hornhautaffektion bei Keratoma palmare et plantare hereditarium.</strong> Klin. Monatsbl. Augenheilkd. 100: 580-588, 1938."None>Richner (1938)</a> described skin lesions in brother and sister. Only the brother had corneal lesions. <a href="#10" class="mim-tip-reference" title="Hanhart, E. <strong>Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmaessig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveraenderungen des Auges (Ektodermatosyndrom).</strong> Dermatologica 94: 286-308, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18901242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18901242</a>]" pmid="18901242">Hanhart (1947)</a> reported that the parents of this patient were second cousins. <a href="#10" class="mim-tip-reference" title="Hanhart, E. <strong>Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmaessig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveraenderungen des Auges (Ektodermatosyndrom).</strong> Dermatologica 94: 286-308, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18901242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18901242</a>]" pmid="18901242">Hanhart (1947)</a> also described associated severe mental and somatic retardation. The pedigree he reported was reproduced by <a href="#22" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. <strong>Genetics and Ophthalmology. Vol. 1.</strong> Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 515-517."None>Waardenburg et al. (1961)</a>. <a href="#22" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. <strong>Genetics and Ophthalmology. Vol. 1.</strong> Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 515-517."None>Waardenburg et al. (1961)</a> described children of a first-cousin marriage, one with the full syndrome and one with only corneal changes. <a href="#21" class="mim-tip-reference" title="Ventura, G., Biasini, G., Petrozzi, M. <strong>Cheratomia palmoplantare dissipatum associato a lesioni corneali in due fratelli.</strong> Boll. Oculist. 44: 497-510, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5880823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5880823</a>]" pmid="5880823">Ventura et al. (1965)</a> described the syndrome in 2 sons of first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18901242+5880823" 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="Buist, N. <strong>Phenylketonuria and related problems.In: Nyhan, W. L. : Amino Acid Metabolism and Genetic Variation.</strong> New York: McGraw-Hill (pub.) 1967. P. 117."None>Buist (1967)</a> referred to studies of a child with tyrosinemia and tyrosine transaminase deficiency, but normal p-hydroxyphenylpyruvic acid oxidase. Phenylalanine level was normal. Hydroxyphenylpyruvic acid was elevated in the urine. <a href="#7" class="mim-tip-reference" title="Fellman, J. H., Vanbellinghen, P. J., Jones, R. T., Koler, R. D. <strong>Soluble and mitochondrial forms of tyrosine aminotransferase: relationship to human tyrosinemia.</strong> Biochemistry 8: 615-622, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4389443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4389443</a>] [<a href="https://doi.org/10.1021/bi00830a023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4389443">Fellman et al. (1969)</a> reported chemical studies on the same patient. Only the mitochondrial form of tyrosine aminotransferase was present in the liver. The soluble form of tyrosine aminotransferase was lacking. The patient had markedly elevated tyrosine blood levels and an increase in urinary p-hydroxyphenylpyruvate and p-hydroxyphenyllactate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4389443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Goldsmith, L. A., Kang, E. S., Bienfang, D. C., Jimbow, K., Gerald, P. S., Baden, H. P. <strong>Tyrosinemia with plantar and palmar keratosis and keratitis.</strong> J. Pediat. 83: 798-805, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4270265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4270265</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80372-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4270265">Goldsmith et al. (1973)</a> demonstrated tyrosinemia and phenylacetic acidemia in this disorder. Their patient was the 14-year-old son of consanguineous Italian parents. The urine contained excessive P-hydroxyphenylactic acid. Urinary P-hydroxyphenylpyruvic acid was normal. Clinical and biochemical improvement accompanied low phenylalanine-low tyrosine diet. They suggested that soluble TAT may be deficient. Mitochondrial tyrosine transaminase was normal. <a href="#1" class="mim-tip-reference" title="Bienfang, D. C., Kuwabara, T., Pueschel, S. M. <strong>The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.</strong> Arch. Ophthal. 94: 1133-1137, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/180943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">180943</a>] [<a href="https://doi.org/10.1001/archopht.1976.03910040045009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="180943">Bienfang et al. (1976)</a> described the ophthalmologic findings in the patient reported by <a href="#9" class="mim-tip-reference" title="Goldsmith, L. A., Kang, E. S., Bienfang, D. C., Jimbow, K., Gerald, P. S., Baden, H. P. <strong>Tyrosinemia with plantar and palmar keratosis and keratitis.</strong> J. Pediat. 83: 798-805, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4270265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4270265</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80372-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4270265">Goldsmith et al. (1973)</a>. This condition is also known as tyrosinemia with palmar and plantar keratosis and keratitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=180943+4270265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Garibaldi, L. R., Siliato, F., De Martini, I., Scarsi, M. R., Romano, C. <strong>Oculocutaneous tyrosinosis: report of two cases in the same family.</strong> Helv. Paediat. Acta 32: 173-180, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33934</a>]" pmid="33934">Garibaldi et al. (1977)</a> observed this disorder, which they called oculocutaneous tyrosinosis, in a 42-month-old girl and her maternal aunt. The parents of the maternal aunt were first cousins. They emphasized the importance of early diagnosis in order to prevent mental retardation by means of a diet restricted in phenylalanine and tyrosine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Hunziker, N. <strong>Richner-Hanhart syndrome and tyrosinemia type II.</strong> Dermatologica 160: 180-189, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6446465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6446465</a>] [<a href="https://doi.org/10.1159/000250493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6446465">Hunziker (1980)</a> reported brother and sister with unusually late onset (about age 15). Their patients' skin lesions were improved with a diet restricted in phenylalanine and tyrosine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6446465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consanguineous sibship, <a href="#18" class="mim-tip-reference" title="Rehak, A., Selim, M. M., Yadav, G. <strong>Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).</strong> Brit. J. Derm. 104: 469-475, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6453606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6453606</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1981.tb15320.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6453606">Rehak et al. (1981)</a> reported 4 cases of Richner-Hanhart syndrome. Cutaneous manifestations were typical but the eyes were not involved, suggesting heterogeneity in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6453606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bohnert, A., Anton-Lamprecht, I. <strong>Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels.</strong> J. Invest. Derm. 79: 68-74, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6124575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6124575</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12500027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6124575">Bohnert and Anton-Lamprecht (1982)</a> reported unique ultrastructural changes: thickening of the granular layer and increased synthesis of tonofibrils and keratohyalin; in the ridged palmar or plantar skin, large numbers of microtubules and unusually tight packing of tonofibrillar masses, which contained tubular channels or inclusions of microtubules. The authors assumed that increased cohesion and tight packing of tonofilaments prevent normal spreading of keratohyalin and result in its globular appearance. Further, they suggested that excessive amounts of intracellular tyrosine enhance crosslinks between aggregated tonofilaments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6124575" 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 an Ashkenazi Jewish family, <a href="#5" class="mim-tip-reference" title="Chitayat, D., Balbul, A., Hani, V., Mamer, O. A., Clow, C., Scriver, C. R. <strong>Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.</strong> J. Inherit. Metab. Dis. 15: 198-203, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1356171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1356171</a>] [<a href="https://doi.org/10.1007/BF01799631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1356171">Chitayat et al. (1992)</a> observed 2 adult sibs, offspring of a first-cousin marriage, with persistent hypertyrosinemia. A curious feature was that the affected female sib, aged 41 years, had hypertyrosinemia and characteristic oculocutaneous signs; the brother, aged 39 years, had hypertyrosinemia but no oculocutaneous disease. Both sibs had 2 children; none had signs of metabolic fetopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1356171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Tallab, T.M. <strong>Richner-Hanhart syndrome: importance of early diagnosis and early intervention.</strong> J. Am. Acad. Derm. 35: 857-859, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8912606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8912606</a>] [<a href="https://doi.org/10.1016/s0190-9622(96)90104-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8912606">Tallab (1996)</a> described 2 brothers with Richner-Hanhart syndrome from Saudi Arabia. They were sons of consanguineous parents. They showed typical symptoms and signs of the disease. Physical examination revealed patchy hyperkeratotic yellow-white papules and plaques on palms and soles and linear and star-like corneal opacities. Their IQs were 61 and 75. Serum tyrosine levels were markedly elevated with excessive excretion of tyrosine and its metabolites in the urine. A low tyrosine and low phenylalanine diet was given. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8912606" 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="#4" class="mim-tip-reference" title="Cerone, R., Fantasia, A. R., Castellano, E., Moresco, L., Schiaffino, M. C., Gatti, R. <strong>Case report: pregnancy and tyrosinaemia type II.</strong> J. Inherit. Metab. Dis. 25: 317-318, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12227462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12227462</a>] [<a href="https://doi.org/10.1023/a:1016558510123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12227462">Cerone et al. (2002)</a> reported a female patient with tyrosinemia type II who underwent 2 untreated pregnancies. The patient presented at 28 years of age for reevaluation. She was 34 weeks pregnant with a plasma tyrosine of 1302 micro mol/L and phenylalanine of 37 micro mol/L; all other amino acids were within the normal range. Her protein intake ranged from 60 to 90 grams per day. Her first child was evaluated at age 1 year and 4 months. The boy was born at term after an uneventful labor and delivery with a birth weight of 1.9 kg. At 26 months of age he was 66 cm (-3.5 SD), weight was 6.5 kg (-4.3 SD), and head circumference was 43 cm (-2.4 SD). Physical examination showed unremarkable results except for microcephaly and maxillary hypoplasia. Developmental testing indicated a DQ of 72. The second child was evaluated at the age of 12 months with a length of 74 cm (25th percentile), weight of 8.3 kg (3rd percentile), and head circumference of 45 cm (3rd percentile). He also had microcephaly and was not able to walk. Speech delay was also noted. Both children had plasma tyrosine levels in the normal range. The experience from these 2 pregnancies suggested that maternal tyrosinemia has an adverse effect on the developing fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12227462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A. <strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong> Clin. Genet. 92: 306-317, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28255985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28255985</a>] [<a href="https://doi.org/10.1111/cge.13003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28255985">Pena-Quintana et al. (2017)</a> reported 15 patients and reviewed 128 previously reported patients with tyrosinemia type II. For those with age of diagnosis available, 20 were diagnosed in the first year of life, 27 between ages 1 and 5 years, 13 between ages 5 and 13 years, and 26 over the age of 13 years. The most common diagnostic signs in the youngest age group were ocular alterations (70%), including bilateral pseudodendritic keratitis, redness, pain, tearing, and photophobia. Skin lesions (typically painful palmoplantar hyperkeratosis) were seen in 35% of those with onset in the first year of life. Only one of the younger patients had neurologic symptoms, which were mild. Skin lesions and neurologic symptoms were more often seen in patients diagnosed between ages 1 and 5 years, with higher penetrance later in life. Skin lesions typically presented on both the palms and soles, although 2 patients had only affected soles and 1 patient had vesicular lesions in the fingertips. Only 2 patients presented with severe cognitive impairment. Among patients diagnosed between ages 5 and 13 years, 75% had neurologic symptoms. <a href="#17" class="mim-tip-reference" title="Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A. <strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong> Clin. Genet. 92: 306-317, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28255985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28255985</a>] [<a href="https://doi.org/10.1111/cge.13003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28255985">Pena-Quintana et al. (2017)</a> noted that early bilateral pseudodendritic keratitis should lead to a suspicion of the disorder, especially in patients with a family history or from areas of high prevalence, since bilateral involvement occurs in only about 5% of patients with herpesvirus infections. The skin lesions sometimes begin as bullae and erosions that progress to hyperkeratotic papules and plaques. These lesions suggest epidermolysis bullosa, dyskeratosis congenita, or other palmoplantar keratodermas. Intellectual impairment usually became more apparent as the age of diagnosis increased, suggesting that early intervention might prevent the occurrence of these symptoms. Oculocutaneous lesions improved after dietary treatment, but neurologic symptoms did not. Compliance with a strict dietary regimen is needed to avoid symptom recurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28255985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an addendum in proof, <a href="#13" class="mim-tip-reference" title="Natt, E., Kao, F.-T., Rettenmeier, R., Scherer, G. <strong>Assignment of the human tyrosine aminotransferase gene to chromosome 16.</strong> Hum. Genet. 72: 225-228, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2870018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2870018</a>] [<a href="https://doi.org/10.1007/BF00291882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2870018">Natt et al. (1986)</a> reported that a patient with multiple congenital anomalies, including tyrosinemia II, showed a small interstitial deletion with breakpoints at 16q22.1 and 16q22.3. <a href="#15" class="mim-tip-reference" title="Natt, E., Westphal, E.-M., Toth-Fejel, S. E., Magenis, R. E., Buist, N. R. M., Rettenmeier, R., Scherer, G. <strong>Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II.</strong> Hum. Genet. 77: 352-358, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891604</a>] [<a href="https://doi.org/10.1007/BF00291426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2891604">Natt et al. (1987)</a> presented the full report of this patient, who had multiple congenital anomalies and severe mental retardation in addition to typical symptoms of tyrosinemia II. Southern blot analysis using a human TAT cDNA probe showed complete deletion of both TAT alleles in the patient. Molecular and cytogenetic analysis of the patient and his family showed one deletion to have been inherited from the mother, extending over at least 27 kb and including the complete TAT structural gene, whereas loss of the second TAT allele resulted from a small de novo interstitial deletion, del 16(pter-q22::q22.3-qter), in the chromosome 16 inherited from the father. The haptoglobin locus (<a href="/entry/140100">140100</a>) was codeleted on the chromosome inherited from the father; no HP allele was inherited by the proband from the father. In situ hybridization likewise was consistent with loss of one haptoglobin gene. On the other hand, 2 metallothionein genes, MT1 (<a href="/entry/156350">156350</a>) and MT2 (<a href="/entry/156360">156360</a>), as well as the LCAT gene (<a href="/entry/606967">606967</a>), were not deleted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2891604+2870018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#23" class="mim-tip-reference" title="Westphal, E.-M., Natt, E., Grimm, T., Odievre, M., Scherer, G. <strong>The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II.</strong> Hum. Genet. 79: 260-264, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2456982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2456982</a>] [<a href="https://doi.org/10.1007/BF00366248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2456982">Westphal et al. (1988)</a> described MspI and HaeIII RFLPs associated with the TAT locus. The authors used the 2 polymorphisms, which have a combined polymorphism information content (PIC) of 0.44, to perform haplotype analysis of the TAT locus in a French family with tyrosinemia type II. The polymorphisms gave a clear delineation of the mutant alleles in each parent and thus provided the opportunity for prenatal diagnosis of this condition in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2456982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of TYRSN2 in the patients reported by <a href="#14" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with tyrosinemia type II, <a href="#14" class="mim-tip-reference" title="Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. <strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong> Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357662</a>] [<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357662">Natt et al. (1992)</a> identified homozygous and compound heterozygous mutations in the TAT gene (<a href="/entry/613018#0001">613018.0001</a>-<a href="/entry/613018#0005">613018.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of 143 patients in 106 families with tyrosinemia type II, <a href="#17" class="mim-tip-reference" title="Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A. <strong>Tyrosinemia type II: mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.</strong> Clin. Genet. 92: 306-317, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28255985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28255985</a>] [<a href="https://doi.org/10.1111/cge.13003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28255985">Pena-Quintana et al. (2017)</a> reported 36 mutations in the TAT gene, including 11 novel variants. The mutations included 3 large deletions, 21 missense and 5 nonsense amino acid substitutions, 5 frameshifts, and 2 splice variants. The most common mutation (P406L; <a href="/entry/613018#0006">613018.0006</a>) was reported in 5 patients from apparently unrelated families from the island of Gran Canaria, Spain (a population of Mediterranean ancestry). Asymptomatic parents in these families were heterozygous for the mutations, and no genotype-phenotype correlation was apparent. In addition to Gran Canaria, other areas with evidence of founder effects included northern Italy, Tunisia, Palestine, and Lebanon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28255985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Crovato1985" class="mim-tip-reference" title="Crovato, F., Desirello, G., Gatti, R., Babbini, N., Rebora, A. <strong>Richner-Hanhart syndrome spares a plantar autograft.</strong> Arch. Derm. 121: 539-540, 1985.">Crovato et al. (1985)</a>; <a href="#Kennaway1971" class="mim-tip-reference" title="Kennaway, N. G., Buist, N. R. M. <strong>Metabolic studies in a patient with hepatic cytosol tyrosine aminotransferase deficiency.</strong> Pediat. Res. 5: 287-297, 1971.">Kennaway and Buist (1971)</a>; <a href="#Pelet1979" class="mim-tip-reference" title="Pelet, B., Antener, I., Faggioni, R., Spahr, A., Gautier, E. <strong>Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).</strong> Helv. Paediat. Acta 34: 177-183, 1979.">Pelet et al. (1979)</a>
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<strong>The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.</strong>
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Arch. Ophthal. 94: 1133-1137, 1976.
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[<a href="https://doi.org/10.1023/a:1016558510123" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01799631" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1021/bi00830a023" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(73)80372-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000250493" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.89.19.9297" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291426" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1981.tb15320.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8912606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8912606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8912606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0190-9622(96)90104-8" target="_blank">Full Text</a>]
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<a id="Ventura1965" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ventura, G., Biasini, G., Petrozzi, M.
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<strong>Cheratomia palmoplantare dissipatum associato a lesioni corneali in due fratelli.</strong>
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Boll. Oculist. 44: 497-510, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5880823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5880823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5880823" 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="Waardenburg1961" class="mim-anchor"></a>
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Waardenburg, P. J., Franceschetti, A., Klein, D.
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<strong>Genetics and Ophthalmology. Vol. 1.</strong>
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Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 515-517.
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<a id="Westphal1988" class="mim-anchor"></a>
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Westphal, E.-M., Natt, E., Grimm, T., Odievre, M., Scherer, G.
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<strong>The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II.</strong>
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Hum. Genet. 79: 260-264, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2456982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2456982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2456982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00366248" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 09/15/2020
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Ada Hamosh - updated : 10/8/2003<br>Wilson H. Y. Lo - updated : 2/18/1997
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 04/11/2024
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carol : 09/15/2020<br>carol : 04/09/2019<br>carol : 03/26/2014<br>terry : 11/16/2010<br>terry : 5/12/2010<br>terry : 9/17/2009<br>carol : 9/17/2009<br>carol : 9/16/2009<br>terry : 6/9/2005<br>terry : 4/6/2005<br>alopez : 3/10/2005<br>carol : 3/17/2004<br>cwells : 10/8/2003<br>carol : 2/11/1999<br>mark : 2/18/1997<br>terry : 7/18/1994<br>davew : 6/29/1994<br>mimadm : 4/18/1994<br>warfield : 3/10/1994<br>carol : 10/16/1992<br>carol : 7/8/1992
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<strong>#</strong> 276600
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TYROSINEMIA, TYPE II; TYRSN2
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RICHNER-HANHART SYNDROME<br />
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TYROSINE AMINOTRANSFERASE DEFICIENCY<br />
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TAT DEFICIENCY<br />
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TYROSINE TRANSAMINASE DEFICIENCY<br />
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KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY<br />
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OREGON TYPE TYROSINEMIA<br />
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TYROSINOSIS, OCULOCUTANEOUS TYPE
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<strong>SNOMEDCT:</strong> 124287008, 4887000;
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<strong>ORPHA:</strong> 28378;
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<strong>DO:</strong> 0050725;
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<strong>Phenotype-Gene Relationships</strong>
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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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16q22.2
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<span class="mim-font">
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Tyrosinemia, type II
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<span class="mim-font">
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276600
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Autosomal recessive
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3
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TAT
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<span class="mim-font">
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613018
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because tyrosinemia type II (TYRSN2) is caused by homozygous or compound heterozygous mutation in the tyrosine aminotransferase gene (TAT; 613018) on chromosome 16q22.</p>
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<strong>Description</strong>
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<p>Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992). </p>
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<strong>Clinical Features</strong>
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<p>Richner (1938) and Hanhart (1947) described an oculocutaneous syndrome characterized by herpetiform corneal ulcers and painful punctate keratoses of digits, palms, and soles. Richner (1938) described skin lesions in brother and sister. Only the brother had corneal lesions. Hanhart (1947) reported that the parents of this patient were second cousins. Hanhart (1947) also described associated severe mental and somatic retardation. The pedigree he reported was reproduced by Waardenburg et al. (1961). Waardenburg et al. (1961) described children of a first-cousin marriage, one with the full syndrome and one with only corneal changes. Ventura et al. (1965) described the syndrome in 2 sons of first-cousin parents. </p><p>Buist (1967) referred to studies of a child with tyrosinemia and tyrosine transaminase deficiency, but normal p-hydroxyphenylpyruvic acid oxidase. Phenylalanine level was normal. Hydroxyphenylpyruvic acid was elevated in the urine. Fellman et al. (1969) reported chemical studies on the same patient. Only the mitochondrial form of tyrosine aminotransferase was present in the liver. The soluble form of tyrosine aminotransferase was lacking. The patient had markedly elevated tyrosine blood levels and an increase in urinary p-hydroxyphenylpyruvate and p-hydroxyphenyllactate. </p><p>Goldsmith et al. (1973) demonstrated tyrosinemia and phenylacetic acidemia in this disorder. Their patient was the 14-year-old son of consanguineous Italian parents. The urine contained excessive P-hydroxyphenylactic acid. Urinary P-hydroxyphenylpyruvic acid was normal. Clinical and biochemical improvement accompanied low phenylalanine-low tyrosine diet. They suggested that soluble TAT may be deficient. Mitochondrial tyrosine transaminase was normal. Bienfang et al. (1976) described the ophthalmologic findings in the patient reported by Goldsmith et al. (1973). This condition is also known as tyrosinemia with palmar and plantar keratosis and keratitis. </p><p>Garibaldi et al. (1977) observed this disorder, which they called oculocutaneous tyrosinosis, in a 42-month-old girl and her maternal aunt. The parents of the maternal aunt were first cousins. They emphasized the importance of early diagnosis in order to prevent mental retardation by means of a diet restricted in phenylalanine and tyrosine. </p><p>Hunziker (1980) reported brother and sister with unusually late onset (about age 15). Their patients' skin lesions were improved with a diet restricted in phenylalanine and tyrosine. </p><p>In a consanguineous sibship, Rehak et al. (1981) reported 4 cases of Richner-Hanhart syndrome. Cutaneous manifestations were typical but the eyes were not involved, suggesting heterogeneity in this disorder. </p><p>Bohnert and Anton-Lamprecht (1982) reported unique ultrastructural changes: thickening of the granular layer and increased synthesis of tonofibrils and keratohyalin; in the ridged palmar or plantar skin, large numbers of microtubules and unusually tight packing of tonofibrillar masses, which contained tubular channels or inclusions of microtubules. The authors assumed that increased cohesion and tight packing of tonofilaments prevent normal spreading of keratohyalin and result in its globular appearance. Further, they suggested that excessive amounts of intracellular tyrosine enhance crosslinks between aggregated tonofilaments. </p><p>In an Ashkenazi Jewish family, Chitayat et al. (1992) observed 2 adult sibs, offspring of a first-cousin marriage, with persistent hypertyrosinemia. A curious feature was that the affected female sib, aged 41 years, had hypertyrosinemia and characteristic oculocutaneous signs; the brother, aged 39 years, had hypertyrosinemia but no oculocutaneous disease. Both sibs had 2 children; none had signs of metabolic fetopathy. </p><p>Tallab (1996) described 2 brothers with Richner-Hanhart syndrome from Saudi Arabia. They were sons of consanguineous parents. They showed typical symptoms and signs of the disease. Physical examination revealed patchy hyperkeratotic yellow-white papules and plaques on palms and soles and linear and star-like corneal opacities. Their IQs were 61 and 75. Serum tyrosine levels were markedly elevated with excessive excretion of tyrosine and its metabolites in the urine. A low tyrosine and low phenylalanine diet was given. </p><p>Cerone et al. (2002) reported a female patient with tyrosinemia type II who underwent 2 untreated pregnancies. The patient presented at 28 years of age for reevaluation. She was 34 weeks pregnant with a plasma tyrosine of 1302 micro mol/L and phenylalanine of 37 micro mol/L; all other amino acids were within the normal range. Her protein intake ranged from 60 to 90 grams per day. Her first child was evaluated at age 1 year and 4 months. The boy was born at term after an uneventful labor and delivery with a birth weight of 1.9 kg. At 26 months of age he was 66 cm (-3.5 SD), weight was 6.5 kg (-4.3 SD), and head circumference was 43 cm (-2.4 SD). Physical examination showed unremarkable results except for microcephaly and maxillary hypoplasia. Developmental testing indicated a DQ of 72. The second child was evaluated at the age of 12 months with a length of 74 cm (25th percentile), weight of 8.3 kg (3rd percentile), and head circumference of 45 cm (3rd percentile). He also had microcephaly and was not able to walk. Speech delay was also noted. Both children had plasma tyrosine levels in the normal range. The experience from these 2 pregnancies suggested that maternal tyrosinemia has an adverse effect on the developing fetus. </p><p>Pena-Quintana et al. (2017) reported 15 patients and reviewed 128 previously reported patients with tyrosinemia type II. For those with age of diagnosis available, 20 were diagnosed in the first year of life, 27 between ages 1 and 5 years, 13 between ages 5 and 13 years, and 26 over the age of 13 years. The most common diagnostic signs in the youngest age group were ocular alterations (70%), including bilateral pseudodendritic keratitis, redness, pain, tearing, and photophobia. Skin lesions (typically painful palmoplantar hyperkeratosis) were seen in 35% of those with onset in the first year of life. Only one of the younger patients had neurologic symptoms, which were mild. Skin lesions and neurologic symptoms were more often seen in patients diagnosed between ages 1 and 5 years, with higher penetrance later in life. Skin lesions typically presented on both the palms and soles, although 2 patients had only affected soles and 1 patient had vesicular lesions in the fingertips. Only 2 patients presented with severe cognitive impairment. Among patients diagnosed between ages 5 and 13 years, 75% had neurologic symptoms. Pena-Quintana et al. (2017) noted that early bilateral pseudodendritic keratitis should lead to a suspicion of the disorder, especially in patients with a family history or from areas of high prevalence, since bilateral involvement occurs in only about 5% of patients with herpesvirus infections. The skin lesions sometimes begin as bullae and erosions that progress to hyperkeratotic papules and plaques. These lesions suggest epidermolysis bullosa, dyskeratosis congenita, or other palmoplantar keratodermas. Intellectual impairment usually became more apparent as the age of diagnosis increased, suggesting that early intervention might prevent the occurrence of these symptoms. Oculocutaneous lesions improved after dietary treatment, but neurologic symptoms did not. Compliance with a strict dietary regimen is needed to avoid symptom recurrence. </p>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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<p>In an addendum in proof, Natt et al. (1986) reported that a patient with multiple congenital anomalies, including tyrosinemia II, showed a small interstitial deletion with breakpoints at 16q22.1 and 16q22.3. Natt et al. (1987) presented the full report of this patient, who had multiple congenital anomalies and severe mental retardation in addition to typical symptoms of tyrosinemia II. Southern blot analysis using a human TAT cDNA probe showed complete deletion of both TAT alleles in the patient. Molecular and cytogenetic analysis of the patient and his family showed one deletion to have been inherited from the mother, extending over at least 27 kb and including the complete TAT structural gene, whereas loss of the second TAT allele resulted from a small de novo interstitial deletion, del 16(pter-q22::q22.3-qter), in the chromosome 16 inherited from the father. The haptoglobin locus (140100) was codeleted on the chromosome inherited from the father; no HP allele was inherited by the proband from the father. In situ hybridization likewise was consistent with loss of one haptoglobin gene. On the other hand, 2 metallothionein genes, MT1 (156350) and MT2 (156360), as well as the LCAT gene (606967), were not deleted. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Westphal et al. (1988) described MspI and HaeIII RFLPs associated with the TAT locus. The authors used the 2 polymorphisms, which have a combined polymorphism information content (PIC) of 0.44, to perform haplotype analysis of the TAT locus in a French family with tyrosinemia type II. The polymorphisms gave a clear delineation of the mutant alleles in each parent and thus provided the opportunity for prenatal diagnosis of this condition in this family. </p>
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<h4>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of TYRSN2 in the patients reported by Natt et al. (1992) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In patients with tyrosinemia type II, Natt et al. (1992) identified homozygous and compound heterozygous mutations in the TAT gene (613018.0001-613018.0005). </p><p>In a review of 143 patients in 106 families with tyrosinemia type II, Pena-Quintana et al. (2017) reported 36 mutations in the TAT gene, including 11 novel variants. The mutations included 3 large deletions, 21 missense and 5 nonsense amino acid substitutions, 5 frameshifts, and 2 splice variants. The most common mutation (P406L; 613018.0006) was reported in 5 patients from apparently unrelated families from the island of Gran Canaria, Spain (a population of Mediterranean ancestry). Asymptomatic parents in these families were heterozygous for the mutations, and no genotype-phenotype correlation was apparent. In addition to Gran Canaria, other areas with evidence of founder effects included northern Italy, Tunisia, Palestine, and Lebanon. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Crovato et al. (1985); Kennaway and Buist (1971); Pelet et al. (1979)
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<strong>The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.</strong>
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[Full Text: https://doi.org/10.1001/archopht.1976.03910040045009]
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<li>
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<p class="mim-text-font">
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Bohnert, A., Anton-Lamprecht, I.
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<strong>Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels.</strong>
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J. Invest. Derm. 79: 68-74, 1982.
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<li>
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<p class="mim-text-font">
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Buist, N.
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<strong>Phenylketonuria and related problems.In: Nyhan, W. L. : Amino Acid Metabolism and Genetic Variation.</strong>
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New York: McGraw-Hill (pub.) 1967. P. 117.
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Cerone, R., Fantasia, A. R., Castellano, E., Moresco, L., Schiaffino, M. C., Gatti, R.
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<strong>Case report: pregnancy and tyrosinaemia type II.</strong>
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<p class="mim-text-font">
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Chitayat, D., Balbul, A., Hani, V., Mamer, O. A., Clow, C., Scriver, C. R.
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<strong>Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.</strong>
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J. Inherit. Metab. Dis. 15: 198-203, 1992.
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[Full Text: https://doi.org/10.1007/BF01799631]
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Crovato, F., Desirello, G., Gatti, R., Babbini, N., Rebora, A.
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<strong>Richner-Hanhart syndrome spares a plantar autograft.</strong>
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Arch. Derm. 121: 539-540, 1985.
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[PubMed: 3156564]
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<p class="mim-text-font">
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Fellman, J. H., Vanbellinghen, P. J., Jones, R. T., Koler, R. D.
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<strong>Soluble and mitochondrial forms of tyrosine aminotransferase: relationship to human tyrosinemia.</strong>
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Biochemistry 8: 615-622, 1969.
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[PubMed: 4389443]
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[Full Text: https://doi.org/10.1021/bi00830a023]
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<p class="mim-text-font">
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Garibaldi, L. R., Siliato, F., De Martini, I., Scarsi, M. R., Romano, C.
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<strong>Oculocutaneous tyrosinosis: report of two cases in the same family.</strong>
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Helv. Paediat. Acta 32: 173-180, 1977.
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[PubMed: 33934]
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<p class="mim-text-font">
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Goldsmith, L. A., Kang, E. S., Bienfang, D. C., Jimbow, K., Gerald, P. S., Baden, H. P.
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<strong>Tyrosinemia with plantar and palmar keratosis and keratitis.</strong>
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J. Pediat. 83: 798-805, 1973.
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[PubMed: 4270265]
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[Full Text: https://doi.org/10.1016/s0022-3476(73)80372-5]
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<p class="mim-text-font">
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Hanhart, E.
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<strong>Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmaessig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveraenderungen des Auges (Ektodermatosyndrom).</strong>
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Dermatologica 94: 286-308, 1947.
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[PubMed: 18901242]
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Hunziker, N.
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<strong>Richner-Hanhart syndrome and tyrosinemia type II.</strong>
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Dermatologica 160: 180-189, 1980.
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[Full Text: https://doi.org/10.1159/000250493]
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Kennaway, N. G., Buist, N. R. M.
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<strong>Metabolic studies in a patient with hepatic cytosol tyrosine aminotransferase deficiency.</strong>
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Pediat. Res. 5: 287-297, 1971.
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Natt, E., Kao, F.-T., Rettenmeier, R., Scherer, G.
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<strong>Assignment of the human tyrosine aminotransferase gene to chromosome 16.</strong>
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Hum. Genet. 72: 225-228, 1986.
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[PubMed: 2870018]
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[Full Text: https://doi.org/10.1007/BF00291882]
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Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G.
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<strong>Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.</strong>
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Proc. Nat. Acad. Sci. 89: 9297-9301, 1992.
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[Full Text: https://doi.org/10.1073/pnas.89.19.9297]
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Natt, E., Westphal, E.-M., Toth-Fejel, S. E., Magenis, R. E., Buist, N. R. M., Rettenmeier, R., Scherer, G.
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<strong>Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II.</strong>
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Hum. Genet. 77: 352-358, 1987.
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Pelet, B., Antener, I., Faggioni, R., Spahr, A., Gautier, E.
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<strong>Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).</strong>
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Helv. Paediat. Acta 34: 177-183, 1979.
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[PubMed: 156708]
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Pena-Quintana, L., Scherer, G., Curbelo-Estevez, M. L., Jimenez-Acosta, F., Hartmann, B., La Roche, F., Meavilla-Olivas, S., Perez-Cerda, C., Garcia-Segarra, N., Giguere, Y., Huppke, P., Mitchell, G. A., Monch, E., Trump, D., Vianey-Saban, C., Trimble, E. R., Vitoria-Minana, I., Reyes-Suarez, D., Ramirez-Lorenzo, T., Tugores, A.
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Richner, H.
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<strong>Hornhautaffektion bei Keratoma palmare et plantare hereditarium.</strong>
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Klin. Monatsbl. Augenheilkd. 100: 580-588, 1938.
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Tallab, T.M.
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<strong>Richner-Hanhart syndrome: importance of early diagnosis and early intervention.</strong>
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Ventura, G., Biasini, G., Petrozzi, M.
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<strong>Cheratomia palmoplantare dissipatum associato a lesioni corneali in due fratelli.</strong>
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Boll. Oculist. 44: 497-510, 1965.
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<p class="mim-text-font">
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Waardenburg, P. J., Franceschetti, A., Klein, D.
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<strong>Genetics and Ophthalmology. Vol. 1.</strong>
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Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 515-517.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Westphal, E.-M., Natt, E., Grimm, T., Odievre, M., Scherer, G.
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<strong>The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II.</strong>
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Hum. Genet. 79: 260-264, 1988.
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[PubMed: 2456982]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 09/15/2020<br>Ada Hamosh - updated : 10/8/2003<br>Wilson H. Y. Lo - updated : 2/18/1997
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Victor A. McKusick : 6/4/1986
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carol : 04/11/2024<br>carol : 09/15/2020<br>carol : 04/09/2019<br>carol : 03/26/2014<br>terry : 11/16/2010<br>terry : 5/12/2010<br>terry : 9/17/2009<br>carol : 9/17/2009<br>carol : 9/16/2009<br>terry : 6/9/2005<br>terry : 4/6/2005<br>alopez : 3/10/2005<br>carol : 3/17/2004<br>cwells : 10/8/2003<br>carol : 2/11/1999<br>mark : 2/18/1997<br>terry : 7/18/1994<br>davew : 6/29/1994<br>mimadm : 4/18/1994<br>warfield : 3/10/1994<br>carol : 10/16/1992<br>carol : 7/8/1992
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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Printed: March 5, 2025
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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