2381 lines
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Entry
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- #613070 - LIVER FAILURE, INFANTILE, TRANSIENT; LFIT
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- OMIM
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<p>
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<span class="h4">#613070</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<li role="presentation">
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<a href="/clinicalSynopsis/613070"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=LIVER FAILURE, INFANTILE, TRANSIENT" 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=18849&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/NBK591557/" 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/4281" 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=613070[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217371" 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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<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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</span>
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</span>
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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:0080778" 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/613070" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080778" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 217371<br />
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<strong>DO:</strong> 0080778<br />
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">ICD+</a>
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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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613070
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LIVER FAILURE, INFANTILE, TRANSIENT; LFIT
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/22/388?start=-3&limit=10&highlight=388">
|
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22q13.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Liver failure, transient infantile
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/613070"> 613070 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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TRMU
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610230"> 610230 </a>
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</span>
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</td>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613070" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/613070" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613070" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
- Autosomal 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distended abdomen <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Acute liver failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197270009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197270009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162557</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006554</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006554</a>]</span><br /> -
|
|
Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br /> -
|
|
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Liver biopsy during acute episode shows variable portal and sinusoidal fibrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751577&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751577</a>]</span><br /> -
|
|
Minimal inflammation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751578</a>]</span><br /> -
|
|
Oncocytic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751579</a>]</span><br /> -
|
|
Proliferation of bile ductules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751580</a>]</span><br /> -
|
|
Macrovesicular steatosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837256</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001403</a>]</span><br /> -
|
|
Microvesicular steatosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850415&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850415</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001414</a>]</span><br /> -
|
|
Focal ballooning of hepatocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552636</a>]</span><br /> -
|
|
Cholestasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30144000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30144000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33688009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33688009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197446008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197446008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K83.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K83.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/576.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">576.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span><br /> -
|
|
Necrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6574001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6574001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1334928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1334928</a>, <a href="https://bioportal.bioontology.org/search?q=C0027540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027540</a>]</span><br /> -
|
|
Mitochondrial respiratory chain defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751582</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200125</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200125</a>]</span><br /> -
|
|
No mtDNA depletion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751583</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
|
|
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Pale-gray skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751569</a>]</span><br /> -
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Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
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</span>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
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COX-depleted fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552635</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> METABOLIC FEATURES </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Coagulopathy secondary to liver failure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751568</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperbilirubinemia, direct <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9326001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9326001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268307</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002908</a>]</span><br /> -
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Decreased serum albumin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0580493&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0580493</a>]</span><br /> -
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Increased serum lactate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5888306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5888306</a>, <a href="https://bioportal.bioontology.org/search?q=C1836440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002151</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002151</a>]</span><br /> -
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Increased alpha-fetoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235971</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006254</a>]</span><br /> -
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Abnormal liver enzymes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166643006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166643006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438237</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset usually at 2 to 6 months of age<br /> -
|
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Onset at day 1 of life has been reported<br /> -
|
|
Clinical improvement after 2 to 3 weeks of supportive care<br /> -
|
|
Liver functions return to normal after 3 to 4 months<br /> -
|
|
Liver size returns to normal after 3 months to 3 years<br /> -
|
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Those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase gene (TRMU, <a href="/entry/610230#0002">610230.0002</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because transient infantile liver failure (LFIT) can be caused by homozygous or compound heterozygous mutation in the TRMU gene (<a href="/entry/610230">610230</a>), which is involved in mitochondrial protein translation, on chromosome 22q13.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (<a href="#3" class="mim-tip-reference" title="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732863" 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>See also transient infantile mitochondrial myopathy (MMIT; <a href="/entry/500009">500009</a>), which is a similar disorder.</p><p>A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (<a href="/entry/251880">251880</a>).</p><p>See ILFS1 (<a href="/entry/615438">615438</a>) for information on syndromic infantile liver failure.</p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Lev, D., Gilad, E., Leshinsky-Silver, E., Houri, S., Levine, A., Saada, A., Lerman-Sagie, T. <strong>Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.</strong> J. Inherit. Metab. Dis. 25: 371-377, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408186</a>] [<a href="https://doi.org/10.1023/a:1020195616081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408186">Lev et al. (2002)</a> reported an infant, born of unrelated Yemenite Jewish parents, who had fulminant lactic acidosis in the neonatal period. She presented at age 9 weeks with vomiting and metabolic acidosis and was found to have an enlarged liver. During the second week of her illness, she developed progressive hepatic insufficiency, jaundice, ascites, hypersplenism, coagulopathy, increased transaminases, and pancreatic failure. Liver transplant was suggested. Over the next few weeks, the liver abnormalities and lactic acidosis improved. Neurologic status remained intact throughout the illness. Studies of muscle and liver biopsies showed decreased mitochondrial complex IV activity (12% residual activity) in the liver only. <a href="#1" class="mim-tip-reference" title="Lev, D., Gilad, E., Leshinsky-Silver, E., Houri, S., Levine, A., Saada, A., Lerman-Sagie, T. <strong>Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.</strong> J. Inherit. Metab. Dis. 25: 371-377, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408186</a>] [<a href="https://doi.org/10.1023/a:1020195616081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408186">Lev et al. (2002)</a> commented on the unusual spontaneous recovery in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408186" 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="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al. (2009)</a> reported 7 unrelated families of Yemenite Jewish origin in which at least 1 family member had acute liver failure in early infancy. All were born at term, had birth weights appropriate for gestational age, and had physiologic hyperbilirubinemia that resolved in a normal manner. All were reportedly healthy during the early neonatal period but were admitted at 2 to 4 months of age with irritability, poor feeding, and vomiting. Physical examination showed pale-gray skin color, jaundiced sclerae, distended abdomen, hepatomegaly, and coagulopathy requiring intensive care. Laboratory studies indicated acute liver failure, with low albumin, direct hyperbilirubinemia, metabolic acidosis, hyperlactatemia, lactic aciduria, and high alpha-fetoprotein. Clinical and biochemical improvement began after 2 to 3 weeks of supportive care, and liver functions returned to normal within 3 to 4 months; however, liver size normalized only after 3 months to 3 years. One patient died of multiple organ failure. Of the 7 patients that survived the acute episode, all were alive and well up to age 14 years. During the acute phase, liver biopsy of 2 patients showed minimal chronic inflammation and mild focal proliferation of bile ductules, with variable portal and sinusoidal fibrosis. There were extensive oncocytic changes in the hepatocytes, as well as focal macrovesicular steatosis and focal ballooning of their cytoplasm. Following identification of the molecular defect in the TRMU gene, the authors identified 5 additional non-Yemenite-Jewish patients with the same disorder. These additional patients were of Algerian, Ashkenazi Jewish, and Arab origin. The presentation was the same, but 3 patients died at ages 2 to 4 months. <a href="#3" class="mim-tip-reference" title="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al. (2009)</a> noted that <a href="#1" class="mim-tip-reference" title="Lev, D., Gilad, E., Leshinsky-Silver, E., Houri, S., Levine, A., Saada, A., Lerman-Sagie, T. <strong>Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.</strong> J. Inherit. Metab. Dis. 25: 371-377, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408186</a>] [<a href="https://doi.org/10.1023/a:1020195616081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408186">Lev et al. (2002)</a> may have reported the first case of TRMU deficiency in an Israeli infant of Yemenite-Jewish origin who presented with transient liver failure during infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19732863+12408186" 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="Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G. K., Sewry, C. A., McDermott, M., Muntoni, F., Poulton, J. <strong>Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.</strong> J. Med. Genet. 48: 660-668, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21931168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21931168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21931168[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2011.089995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21931168">Uusimaa et al. (2011)</a> reported a 4-year-old Irish girl with transient acute infantile liver failure associated with lactic acidosis and profound cytochrome c oxidase deficiency in muscle and liver samples. Brain MRI showed abnormal high signals in the right thalamus, which disappeared by age 1 year. She also had feeding difficulties and hypotonia in early infancy. Although she recovered, she had mildly delayed walking, axial weakness, and bulbar involvement. Molecular analysis identified compound heterozygous mutations in the TRMU gene (<a href="/entry/610230#0006">610230.0006</a> and <a href="/entry/610230#0007">610230.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21931168" 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 LFIT in the families reported by <a href="#3" class="mim-tip-reference" title="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al. (2009)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732863" 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="#3" class="mim-tip-reference" title="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al. (2009)</a> found markedly reduced activities of mitochondrial respiratory chain complexes I, III, and IV in patients with infantile acute liver failure. There was relatively normal activity of complex II, suggesting a defect in the synthesis of mtDNA-encoded proteins. Notably, mtDNA depletion was not observed, and muscle studies were normal. Further studies indicated a defect in a nuclear-encoded mitochondrial translation factor. A study of tRNAs in cells derived from 3 of the patients showed a severe reduction of thio-modified mitochondrial tRNAs, whereas the pattern of hybridization obtained for the cytosolic tRNA-lys, modified by another enzyme, was similar to controls. The findings suggested that the mitochondrial translation defect resulted from reduced modification of several mitochondrial tRNAs. Noting that the availability of cysteine in the neonatal period is limited, <a href="#3" class="mim-tip-reference" title="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al. (2009)</a> proposed that there is a window of time during 1 to 4 months of age during which patients with TRMU mutations are at an increased risk of developing liver failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis, followed by candidate gene sequencing, <a href="#3" class="mim-tip-reference" title="Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O. <strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong> Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732863">Zeharia et al. (2009)</a> identified homozygous and compound heterozygous mutations in the TRMU gene (see, e.g., <a href="/entry/610230#0002">610230.0002</a>-<a href="/entry/610230#0005">610230.0005</a>) in patients with infantile acute liver failure. Seven patients of Yemenite Jewish origin had the same Y77H mutation (<a href="/entry/610230#0002">610230.0002</a>), indicating a founder effect. Overall, 9 mutations were identified in 13 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732863" 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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Lev, D., Gilad, E., Leshinsky-Silver, E., Houri, S., Levine, A., Saada, A., Lerman-Sagie, T.
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<strong>Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.</strong>
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J. Inherit. Metab. Dis. 25: 371-377, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G. K., Sewry, C. A., McDermott, M., Muntoni, F., Poulton, J.
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<strong>Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.</strong>
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J. Med. Genet. 48: 660-668, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21931168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21931168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21931168[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21931168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2011.089995" target="_blank">Full Text</a>]
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Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O.
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<strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong>
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Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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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Cassandra L. Kniffin - updated : 10/27/2011
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Cassandra L. Kniffin : 10/6/2009
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alopez : 11/14/2022
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alopez : 10/21/2013<br>carol : 10/27/2011<br>ckniffin : 10/27/2011<br>ckniffin : 3/26/2010<br>carol : 3/19/2010<br>wwang : 10/8/2009<br>ckniffin : 10/6/2009
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<strong>#</strong> 613070
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LIVER FAILURE, INFANTILE, TRANSIENT; LFIT
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<strong>ORPHA:</strong> 217371;
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<strong>DO:</strong> 0080778;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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22q13.31
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Liver failure, transient infantile
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613070
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Autosomal recessive
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3
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TRMU
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610230
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<p>A number sign (#) is used with this entry because transient infantile liver failure (LFIT) can be caused by homozygous or compound heterozygous mutation in the TRMU gene (610230), which is involved in mitochondrial protein translation, on chromosome 22q13.</p>
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<strong>Description</strong>
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<p>Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). </p><p>See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder.</p><p>A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880).</p><p>See ILFS1 (615438) for information on syndromic infantile liver failure.</p>
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<strong>Clinical Features</strong>
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<p>Lev et al. (2002) reported an infant, born of unrelated Yemenite Jewish parents, who had fulminant lactic acidosis in the neonatal period. She presented at age 9 weeks with vomiting and metabolic acidosis and was found to have an enlarged liver. During the second week of her illness, she developed progressive hepatic insufficiency, jaundice, ascites, hypersplenism, coagulopathy, increased transaminases, and pancreatic failure. Liver transplant was suggested. Over the next few weeks, the liver abnormalities and lactic acidosis improved. Neurologic status remained intact throughout the illness. Studies of muscle and liver biopsies showed decreased mitochondrial complex IV activity (12% residual activity) in the liver only. Lev et al. (2002) commented on the unusual spontaneous recovery in this patient. </p><p>Zeharia et al. (2009) reported 7 unrelated families of Yemenite Jewish origin in which at least 1 family member had acute liver failure in early infancy. All were born at term, had birth weights appropriate for gestational age, and had physiologic hyperbilirubinemia that resolved in a normal manner. All were reportedly healthy during the early neonatal period but were admitted at 2 to 4 months of age with irritability, poor feeding, and vomiting. Physical examination showed pale-gray skin color, jaundiced sclerae, distended abdomen, hepatomegaly, and coagulopathy requiring intensive care. Laboratory studies indicated acute liver failure, with low albumin, direct hyperbilirubinemia, metabolic acidosis, hyperlactatemia, lactic aciduria, and high alpha-fetoprotein. Clinical and biochemical improvement began after 2 to 3 weeks of supportive care, and liver functions returned to normal within 3 to 4 months; however, liver size normalized only after 3 months to 3 years. One patient died of multiple organ failure. Of the 7 patients that survived the acute episode, all were alive and well up to age 14 years. During the acute phase, liver biopsy of 2 patients showed minimal chronic inflammation and mild focal proliferation of bile ductules, with variable portal and sinusoidal fibrosis. There were extensive oncocytic changes in the hepatocytes, as well as focal macrovesicular steatosis and focal ballooning of their cytoplasm. Following identification of the molecular defect in the TRMU gene, the authors identified 5 additional non-Yemenite-Jewish patients with the same disorder. These additional patients were of Algerian, Ashkenazi Jewish, and Arab origin. The presentation was the same, but 3 patients died at ages 2 to 4 months. Zeharia et al. (2009) noted that Lev et al. (2002) may have reported the first case of TRMU deficiency in an Israeli infant of Yemenite-Jewish origin who presented with transient liver failure during infancy. </p><p>Uusimaa et al. (2011) reported a 4-year-old Irish girl with transient acute infantile liver failure associated with lactic acidosis and profound cytochrome c oxidase deficiency in muscle and liver samples. Brain MRI showed abnormal high signals in the right thalamus, which disappeared by age 1 year. She also had feeding difficulties and hypotonia in early infancy. Although she recovered, she had mildly delayed walking, axial weakness, and bulbar involvement. Molecular analysis identified compound heterozygous mutations in the TRMU gene (610230.0006 and 610230.0007). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LFIT in the families reported by Zeharia et al. (2009) was consistent with autosomal recessive inheritance. </p>
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<strong>Biochemical Features</strong>
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<p>Zeharia et al. (2009) found markedly reduced activities of mitochondrial respiratory chain complexes I, III, and IV in patients with infantile acute liver failure. There was relatively normal activity of complex II, suggesting a defect in the synthesis of mtDNA-encoded proteins. Notably, mtDNA depletion was not observed, and muscle studies were normal. Further studies indicated a defect in a nuclear-encoded mitochondrial translation factor. A study of tRNAs in cells derived from 3 of the patients showed a severe reduction of thio-modified mitochondrial tRNAs, whereas the pattern of hybridization obtained for the cytosolic tRNA-lys, modified by another enzyme, was similar to controls. The findings suggested that the mitochondrial translation defect resulted from reduced modification of several mitochondrial tRNAs. Noting that the availability of cysteine in the neonatal period is limited, Zeharia et al. (2009) proposed that there is a window of time during 1 to 4 months of age during which patients with TRMU mutations are at an increased risk of developing liver failure. </p>
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<strong>Molecular Genetics</strong>
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<p>By linkage analysis, followed by candidate gene sequencing, Zeharia et al. (2009) identified homozygous and compound heterozygous mutations in the TRMU gene (see, e.g., 610230.0002-610230.0005) in patients with infantile acute liver failure. Seven patients of Yemenite Jewish origin had the same Y77H mutation (610230.0002), indicating a founder effect. Overall, 9 mutations were identified in 13 patients. </p>
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<strong>REFERENCES</strong>
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Lev, D., Gilad, E., Leshinsky-Silver, E., Houri, S., Levine, A., Saada, A., Lerman-Sagie, T.
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<strong>Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.</strong>
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J. Inherit. Metab. Dis. 25: 371-377, 2002.
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[PubMed: 12408186]
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[Full Text: https://doi.org/10.1023/a:1020195616081]
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Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G. K., Sewry, C. A., McDermott, M., Muntoni, F., Poulton, J.
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<strong>Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.</strong>
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J. Med. Genet. 48: 660-668, 2011.
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[PubMed: 21931168]
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[Full Text: https://doi.org/10.1136/jmg.2011.089995]
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Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.-M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., Marom, D., Rotig, A., Tarassov, I., Elpeleg, O.
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<strong>Acute infantile liver failure due to mutations in the TRMU gene.</strong>
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Am. J. Hum. Genet. 85: 401-407, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 295 only, 2010.
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[PubMed: 19732863]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.08.004]
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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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Cassandra L. Kniffin - updated : 10/27/2011
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Creation Date:
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</span>
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</div>
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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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Cassandra L. Kniffin : 10/6/2009
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Edit History:
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</span>
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</div>
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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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alopez : 11/14/2022<br>alopez : 10/21/2013<br>carol : 10/27/2011<br>ckniffin : 10/27/2011<br>ckniffin : 3/26/2010<br>carol : 3/19/2010<br>wwang : 10/8/2009<br>ckniffin : 10/6/2009
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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<br />
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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