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Entry
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- #200100 - ABETALIPOPROTEINEMIA; ABL
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- OMIM
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<p>
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<span class="h4">#200100</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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<li role="presentation">
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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/200100"><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="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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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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<li role="presentation">
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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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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ABETALIPOPROTEINEMIA" 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=252&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/NBK532447/" 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://medlineplus.gov/genetics/condition/abetalipoproteinemia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=200100[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=14" 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/4764672f-f892-4922-935f-aeed1c01969e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div 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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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1386" 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/200100" 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:1386" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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</div>
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</div>
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<div 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>
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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:200100" 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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 190787008<br />
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<strong>ICD10CM:</strong> E78.6<br />
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<strong>ORPHA:</strong> 14<br />
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<strong>DO:</strong> 1386<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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200100
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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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ABETALIPOPROTEINEMIA; ABL
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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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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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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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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ACANTHOCYTOSIS<br />
|
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BASSEN-KORNZWEIG SYNDROME<br />
|
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MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY<br />
|
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MTP DEFICIENCY
|
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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 />
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</div>
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</div>
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<div>
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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>
|
|
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/4/435?start=-3&limit=10&highlight=435">
|
|
4q23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Abetalipoproteinemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/200100"> 200100 </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">
|
|
MTTP
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157147"> 157147 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/200100" 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">
|
|
<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/200100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/200100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Loss of night vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br /> -
|
|
Reduced visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Fine mottling in retina pigment epithelium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829474</a>]</span><br /> -
|
|
Retinal pigment degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95694000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95694000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007894</a>]</span><br /> -
|
|
Absent responses on ERG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829475</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fatty liver (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442191002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442191002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197321007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2711227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2711227</a>, <a href="https://bioportal.bioontology.org/search?q=C0015695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
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Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
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Steatorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27868004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27868004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66187002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66187002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038238</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002570</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002570</a>]</span><br /> -
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Fat malabsorption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197494007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197494007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002630" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002630</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002630" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002630</a>]</span><br /> -
|
|
Lipid-laden enterocytes seen on intestinal biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829473</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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<div>
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<span class="h5 mim-font">
|
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<strong> NEUROLOGIC </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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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Dysmetria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
|
|
Ataxic gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</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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<span class="h5 mim-font">
|
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<em> Peripheral Nervous System </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
|
|
- Decreased or absent deep tendon reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span><br /> -
|
|
Decreased or absent ankle jerk reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829471&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829471</a>]</span><br /> -
|
|
Decreased or absent patellar reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829472</a>]</span><br /> -
|
|
Positive Romberg sign <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298310004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298310004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240914</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002403</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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Acanthocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190787008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190787008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250249008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250249008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0687751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687751</a>, <a href="https://bioportal.bioontology.org/search?q=C0000744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000744</a>, <a href="https://bioportal.bioontology.org/search?q=C2239220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239220</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001927" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001927</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001927" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001927</a>]</span><br /> -
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|
Anemia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</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> LABORATORY ABNORMALITIES </strong>
|
|
</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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|
- Low cholesterol levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856966</a>]</span><br /> -
|
|
Low to absent plasma ApoB <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829476</a>]</span><br /> -
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Abetalipoproteinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190787008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190787008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008181</a>]</span><br /> -
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Low HDL <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span><br /> -
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Low to absent triglyceride <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830786</a>]</span><br /> -
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Low to absent LDL <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829477</a>]</span><br /> -
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Low to absent VLDL <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829478</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the microsomal triglyceride transfer protein gene (MTP, <a href="/entry/157147#0001">157147.0001</a>)<br />
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because abetalipoproteinemia is caused by homozygous or compound heterozygous mutation in the MTP gene (MTTP; <a href="/entry/157147">157147</a>) on chromosome 4q23.</p><p>See familial hypobetalipoproteinemia (FHBL; <a href="/entry/615558">615558</a>) for a similar disorder caused by mutation in the APOB gene (<a href="/entry/107730">107730</a>).</p>
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<p>Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; <a href="/entry/615558">615558</a>) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by <a href="#21" class="mim-tip-reference" title="Lee, J., Hegele, R. A. <strong>Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.</strong> J. Inherit. Metab. Dis. 37: 333-339, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24288038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24288038</a>] [<a href="https://doi.org/10.1007/s10545-013-9665-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24288038">Lee and Hegele, 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24288038" 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>Features are celiac syndrome, pigmentary degeneration of the retina, progressive ataxic neuropathy, and a peculiar 'burr-cell' malformation of the red cells called acanthocytosis. Intestinal absorption of lipids is defective, serum cholesterol very low, and serum beta lipoprotein absent. Almost all of the earlier reported patients were Jewish. For example, the first case was that of an 18-year-old Jewish girl referred to the Consultation Service at the Mt. Sinai Hospital in New York City for diagnostic studies (<a href="#3" class="mim-tip-reference" title="Bassen, F. A., Kornzweig, A. L. <strong>Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.</strong> Blood 5: 381-387, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15411425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15411425</a>]" pmid="15411425">Bassen and Kornzweig, 1950</a>). The picture was that of Friedreich ataxia and retinitis pigmentosa with red cells of bizarre shapes. The girl had also had protracted steatorrhea from childhood, and a 9-year-old brother had red cells of the same type and early retinal pigmentary changes. For the peculiar red cells, <a href="#35" class="mim-tip-reference" title="Singer, K., Fisher, B., Perlstein, M. A. <strong>Acanthrocytosis (sic): a genetic erythrocytic malformation.</strong> Blood 7: 577-591, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14925152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14925152</a>]" pmid="14925152">Singer et al. (1952)</a> conferred the designation 'acanthrocytes,' later changed to 'acanthocytes' by <a href="#10" class="mim-tip-reference" title="Druez, G. <strong>Un nouveau cas d'acanthocytose: dysmorphie erythrocytaire congenitale avec retinite, troubles nerveux et stigmates degeneratifs.</strong> Rev. Hemat. 14: 3-11, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13646324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13646324</a>]" pmid="13646324">Druez (1959)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14925152+13646324+15411425" 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>Autopsy (<a href="#37" class="mim-tip-reference" title="Sobrevilla, L. A., Goodman, M. L., Kane, C. A. <strong>Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome).</strong> Am. J. Med. 37: 821-832, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14237436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14237436</a>] [<a href="https://doi.org/10.1016/0002-9343(64)90030-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14237436">Sobrevilla et al., 1964</a>) and biopsy of peripheral nerves showed extensive central and peripheral demyelination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14237436" 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>Many of the manifestations of this disorder are the consequence of vitamin E deficiency, and treatment with vitamin E is recommended (<a href="#23" class="mim-tip-reference" title="Muller, D. P. R., Lloyd, J. K., Bird, A. C. <strong>Long-term management of abetalipoproteinaemia: possible role for vitamin E.</strong> Arch. Dis. Child. 52: 209-214, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/848999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">848999</a>] [<a href="https://doi.org/10.1136/adc.52.3.209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="848999">Muller et al., 1977</a>; <a href="#2" class="mim-tip-reference" title="Azizi, E., Zaidman, J. L., Eshchar, J., Szeinberg, A. <strong>Abetalipoproteinaemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides.</strong> Acta Paediat. Scand. 67: 797-801, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/716878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">716878</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1978.tb16264.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="716878">Azizi et al., 1978</a>; <a href="#25" class="mim-tip-reference" title="Muller, D. P. R., Lloyd, J. K. <strong>Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.</strong> Ann. N.Y. Acad. Sci. 393: 133-144, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6959555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6959555</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1982.tb31239.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6959555">Muller and Lloyd, 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6959555+848999+716878" 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>Spinocerebellar degeneration occurs with various forms of chronic intestinal malabsorption, including that of cholestatic liver disease and of Crohn disease (<a href="#14" class="mim-tip-reference" title="Harding, A. E., Muller, D. P. R., Thomas, P. K., Willison, H. J. <strong>Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome.</strong> Ann. Neurol. 12: 419-424, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7181449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7181449</a>] [<a href="https://doi.org/10.1002/ana.410120503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7181449">Harding et al., 1982</a>). Despite the absence of low density lipoproteins and chylomicron fragments from the plasma of patients with abetalipoproteinemia, the rates of cholesterol synthesis and the number of LDL receptors expressed on freshly isolated cells are not markedly increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7181449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Glickman, R. M., Green, P. H. R., Lees, R. S., Lux, S. E., Kilgore, A. <strong>Immunofluorescence studies of apolipoprotein B in intestinal mucosa, absence in abetalipoproteinemia.</strong> Gastroenterology 76: 288-292, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/365664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">365664</a>]" pmid="365664">Glickman et al. (1979)</a> had found absence of apoB immunoreactivity in the enterocytes of 2 abetalipoproteinemia patients and had postulated a genetic defect in the synthesis of apoB. The results of <a href="#11" class="mim-tip-reference" title="Dullaart, R. P. F., Speelberg, B., Schuurman, H.-J., Milne, R. W., Havekes, L. M., Marcel, Y. L., Geuze, H. J., Hulshof, M. M., Erkelens, D. W. <strong>Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine: expression and evidence for local synthesis in recessive abetalipoproteinemia.</strong> J. Clin. Invest. 78: 1397-1404, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2429992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2429992</a>] [<a href="https://doi.org/10.1172/JCI112727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2429992">Dullaart et al. (1986)</a> suggest a defect in secretion of apoB or a failure of appropriate secretion with lipids in both liver and intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2429992+365664" 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>Pathologic implications of apolipoprotein B were discussed by <a href="#7" class="mim-tip-reference" title="Brunzell, J. D., Albers, J. J., Chait, A., Grundy, S. M., Groszek, E., McDonald, G. B. <strong>Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.</strong> J. Lipid Res. 24: 147-155, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403642</a>]" pmid="6403642">Brunzell et al. (1983)</a> and by <a href="#36" class="mim-tip-reference" title="Sniderman, A., Shapiro, S., Marpole, D., Skinner, B., Teng, B., Kwiterovich, P. O., Jr. <strong>Association of coronary atherosclerosis with hyperapobetalipoproteinemia (increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins).</strong> Proc. Nat. Acad. Sci. 77: 604-608, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6928647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6928647</a>] [<a href="https://doi.org/10.1073/pnas.77.1.604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6928647">Sniderman et al. (1980)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6403642+6928647" 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="Lackner, K. J., Monge, J. C., Gregg, R. E., Hoeg, J. M., Triche, T. J., Law, S. W., Brewer, H. B., Jr. <strong>Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.</strong> J. Clin. Invest. 78: 1707-1712, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3782476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3782476</a>] [<a href="https://doi.org/10.1172/JCI112766" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3782476">Lackner et al. (1986)</a> found a massive increase of apoB-100 mRNA in ABL hepatocytes, and the synthesis of apoB, or an apoB-like protein, which is not secreted by the cells. The first result suggested that the apoB-100 gene is considerably up-regulated in this disorder. An abnormally low plasma LDL concentration may be the stimulus. ABL must not be due to a promoter or enhancer defect, because in that case an abnormally low mRNA level would be expected. Neither Southern nor Northern blots revealed any insertions or deletions within the gene, nor did they provide any evidence for a splicing defect. <a href="#5" class="mim-tip-reference" title="Blackhart, B. D., Ludwig, E. M., Pierolti, B. R., Caiati, L., Onasch, M. A., Wallis, S. C., Powell, L., Pease, R., Knott, T. J., Chu, M. L., Mahley, R. W., Scott, J., McCarthy, B. J., Levy-Wilson, B. <strong>Structure of the apolipoprotein B gene.</strong> J. Biol. Chem. 261: 15364-15367, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2946672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2946672</a>]" pmid="2946672">Blackhart et al. (1986)</a> found no abnormality of the APOB gene on Southern blot analysis, but found increased amounts of mRNA and apoB protein in hepatocytes. <a href="#5" class="mim-tip-reference" title="Blackhart, B. D., Ludwig, E. M., Pierolti, B. R., Caiati, L., Onasch, M. A., Wallis, S. C., Powell, L., Pease, R., Knott, T. J., Chu, M. L., Mahley, R. W., Scott, J., McCarthy, B. J., Levy-Wilson, B. <strong>Structure of the apolipoprotein B gene.</strong> J. Biol. Chem. 261: 15364-15367, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2946672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2946672</a>]" pmid="2946672">Blackhart et al. (1986)</a> and <a href="#30" class="mim-tip-reference" title="Ross, R. S., Gregg, R. E., Law, S. W., Monge, J. C., Grant, S. M., Higuchi, K., Triche, T. J., Jefferson, J., Brewer, H. B., Jr. <strong>Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the molecular level.</strong> J. Clin. Invest. 81: 590-595, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828430</a>] [<a href="https://doi.org/10.1172/JCI113357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2828430">Ross et al. (1988)</a> proposed that the molecular defect in abetalipoproteinemia involves defective cellular secretion of the protein. The mutation could be either in the APOB gene itself or in some other product necessary for apoB secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2946672+3782476+2828430" 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>Liver disease is an unusual feature of abetalipoproteinemia. In some patients steatosis of the liver has been found, and in a few patients liver cirrhosis has been observed. In these cases, medium chain triglyceride (MCT) complementation has been implicated as a cause of liver disease (<a href="#18" class="mim-tip-reference" title="Illingworth, D. R., Connor, W. E., Miller, R. G. <strong>Abetalipoproteinemia: report of two cases and review of therapy.</strong> Arch. Neurol. 37: 659-662, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7425890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7425890</a>] [<a href="https://doi.org/10.1001/archneur.1980.00500590083015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7425890">Illingworth et al., 1980</a>; <a href="#27" class="mim-tip-reference" title="Partin, J. S., Partin, J. C., Schubert, W. K., McAdams, A. J. <strong>Liver ultrastructure in abetalipoproteinemia: evolution of micronodular cirrhosis.</strong> Gastroenterology 67: 107-118, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4135110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4135110</a>]" pmid="4135110">Partin et al., 1974</a>). <a href="#6" class="mim-tip-reference" title="Braegger, C. P., Belli, D. C., Mentha, G., Steinmann, B. <strong>Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.</strong> Europ. J. Pediat. 157: 576-578, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686820</a>] [<a href="https://doi.org/10.1007/s004310050882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9686820">Braegger et al. (1998)</a> described a 16-year-old girl with abetalipoproteinemia who underwent liver transplantation for hepatic cirrhosis. After this procedure, her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant MTP, remained expressed in the intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4135110+9686820+7425890" 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="#21" class="mim-tip-reference" title="Lee, J., Hegele, R. A. <strong>Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.</strong> J. Inherit. Metab. Dis. 37: 333-339, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24288038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24288038</a>] [<a href="https://doi.org/10.1007/s10545-013-9665-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24288038">Lee and Hegele (2014)</a> stated that the incidences of both ABL and familial hyopbetalipoproteinemia are reported as less than 1 in 1 million. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24288038" 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="#39" class="mim-tip-reference" title="Talmud, P. J., Lloyd, J. K., Muller, D. P. R., Collins, D. R., Scott, J., Humphries, S. <strong>Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.</strong> J. Clin. Invest. 82: 1803-1806, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903181</a>] [<a href="https://doi.org/10.1172/JCI113795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2903181">Talmud et al. (1988)</a> presented evidence that the defect in abetalipoproteinemia (at least in the 2 families studied) did not involve the APOB gene: in each of these 2 families, 2 affected children inherited different APOB RFLP alleles from at least 1 parent, whereas the sibs would be anticipated to share common alleles if this disorder were due to an APOB mutation. In one of these families, <a href="#34" class="mim-tip-reference" title="Shoulders, C. C., Brett, D. J., Bayliss, J. D., Narcisi, T. M. E., Jarmuz, A., Grantham, T. T., Leoni, P. R. D., Bhattacharya, S., Pease, R. J., Cullen, P. M., Levi, S., Byfield, P. G. H., Purkiss, P., Scott, J. <strong>Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.</strong> Hum. Molec. Genet. 2: 2109-2116, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111381</a>] [<a href="https://doi.org/10.1093/hmg/2.12.2109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8111381">Shoulders et al. (1993)</a> identified a homozygous splicing mutation in the gene encoding the 97-kD subunit of microsomal triglyceride transfer protein (<a href="/entry/157147#0003">157147.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2903181+8111381" 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>Microsomal triglyceride transfer protein, which catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid from phospholipid surfaces, is a heterodimer composed of the multifunctional protein, protein disulfide isomerase (<a href="/entry/176790">176790</a>), and a unique large subunit with an apparent molecular mass of 88 kD (MTP; <a href="/entry/157147">157147</a>). MTP is isolated as a soluble protein from the lumen of the microsomal fraction of liver and intestine. <a href="#41" class="mim-tip-reference" title="Wetterau, J. R., Aggerbeck, L. P., Bouma, M.-E., Eisenberg, C., Munck, A., Hermier, M., Schmitz, J., Gay, G., Rader, D. J., Gregg, R. E. <strong>Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.</strong> Science 258: 999-1001, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1439810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1439810</a>] [<a href="https://doi.org/10.1126/science.1439810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1439810">Wetterau et al. (1992)</a> demonstrated that MTP activity and the large subunit of MTP were present in intestinal biopsy samples from 8 control persons but were absent in 4 abetalipoproteinemic subjects. They suggested that the findings proved that MTP is the site of the defect in abetalipoproteinemia and that MTP is required for lipoprotein assembly. MTP was normal in chylomicron retention disease (Anderson disease; <a href="/entry/246700">246700</a>), a disorder with some of the same features as abetalipoproteinemia. <a href="#33" class="mim-tip-reference" title="Sharp, D., Blinderman, L., Combs, K. A., Kienzle, B., Ricci, B., Wager-Smith, K., Gil, C. M., Turck, C. W., Bouma, M.-E., Rader, D. J., Aggerbeck, L. P., Gregg, R. E., Gordon, D. A., Wetterau, J. R. <strong>Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.</strong> Nature 365: 65-69, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8361539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8361539</a>] [<a href="https://doi.org/10.1038/365065a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8361539">Sharp et al. (1993)</a> demonstrated point mutations in the large MTP subunit in 2 ABL patients (<a href="/entry/157147#0001">157147.0001</a>-<a href="/entry/157147#0002">157147.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1439810+8361539" 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 patient with abetalipoproteinemia studied by <a href="#41" class="mim-tip-reference" title="Wetterau, J. R., Aggerbeck, L. P., Bouma, M.-E., Eisenberg, C., Munck, A., Hermier, M., Schmitz, J., Gay, G., Rader, D. J., Gregg, R. E. <strong>Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.</strong> Science 258: 999-1001, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1439810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1439810</a>] [<a href="https://doi.org/10.1126/science.1439810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1439810">Wetterau et al. (1992)</a>, <a href="#29" class="mim-tip-reference" title="Rehberg, E. F., Samson-Bouma, M.-E., Kienzle, B., Blinderman, L., Jamil, H., Wetterau, J. R., Aggerbeck, L. P., Gordon, D. A. <strong>A novel abetalipoproteinemia genotype: identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.</strong> J. Biol. Chem. 271: 29945-29952, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8939939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8939939</a>] [<a href="https://doi.org/10.1074/jbc.271.47.29945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8939939">Rehberg et al. (1996)</a> identified compound heterozygous mutations in the MTTP gene (<a href="/entry/157147#0005">157147.0005</a>-<a href="/entry/157145#0006">157145.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1439810+8939939" 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 Japanese patient with abetalipoproteinemia, <a href="#26" class="mim-tip-reference" title="Ohashi, K., Ishibashi, S., Osuga, J., Tozawa, R., Harada, K., Yahagi, N., Shionoiri, F., Iizuka, Y., Tamura, Y., Nagai, R., Illingworth, D. R., Gotoda, T., Yamada, N. <strong>Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.</strong> J. Lipid Res. 41: 1199-1204, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10946006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10946006</a>]" pmid="10946006">Ohashi et al. (2000)</a> identified a homozygous missense mutation in the MTP gene (<a href="/entry/157147#0007">157147.0007</a>). The parents were consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10946006" 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 58-year-old man with abetalipoproteinemia, <a href="#1" class="mim-tip-reference" title="Al-Shali, K., Wang, J., Rosen, F., Hegele, R. A. <strong>Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.</strong> Clin. Genet. 63: 135-138, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12630961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12630961</a>] [<a href="https://doi.org/10.1046/j.0009-9163.2002.00175.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12630961">Al-Shali et al. (2003)</a> identified a homozygous missense mutation in the MTP gene (<a href="/entry/157147#0008">157147.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12630961" 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="Benayoun, L., Granot, E., Rizel, L., Allon-Shalev, S., Behar, D. M., Ben-Yosef, T. <strong>Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.</strong> Molec. Genet. Metab. 90: 453-457, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17275380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17275380</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17275380">Benayoun et al. (2007)</a> investigated the genetic basis for abetalipoproteinemia in a cohort of Israeli families. In Ashkenazi Jewish patients, <a href="#4" class="mim-tip-reference" title="Benayoun, L., Granot, E., Rizel, L., Allon-Shalev, S., Behar, D. M., Ben-Yosef, T. <strong>Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.</strong> Molec. Genet. Metab. 90: 453-457, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17275380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17275380</a>] [<a href="https://doi.org/10.1016/j.ymgme.2006.12.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17275380">Benayoun et al. (2007)</a> identified a conserved haplotype and a common MTP mutation, gly865 to ter (<a href="/entry/157147#0010">157147.0010</a>), with a carrier frequency of 1:131 in this population. They also reported the first case of abetalipoproteinemia and additional abnormalities in a Muslim Arab patient, due to a homozygous contiguous gene deletion of approximately 481 kb, including MTP and 8 other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17275380" 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="#28" class="mim-tip-reference" title="Raabe, M., Flynn, L. M., Zlot, C. H., Wong, J. S., Veniant, M. M., Hamilton, R. L., Young, S. G. <strong>Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.</strong> Proc. Nat. Acad. Sci. 95: 8686-8691, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671739</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9671739[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/10.1073/pnas.95.15.8686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671739">Raabe et al. (1998)</a> used gene targeting to knock out the mouse MTP gene (Mttp). In heterozygous knockout mice, the MTP mRNA, protein, and activity levels were reduced by 50% in both liver and intestine. Compared with homozygous normal control mice, chow-fed heterozygous mice had reduced plasma levels of low density lipoprotein cholesterol and had a 28% reduction in plasma apoB-100 levels. On a high-fat diet, the heterozygous mice exhibited a marked reduction in total plasma cholesterol levels, compared with those in homozygous normal mice. Both the liver of adult heterozygous mice and the visceral endoderm of the yolk sacs from heterozygous embryos manifested an accumulation of cytosolic fat. All homozygous knockout embryos died during embryonic development. In the visceral endoderm of homozygous defective yolk sacs, lipoprotein synthesis was virtually absent, and there was a marked accumulation of cytosolic fat droplets. Thus, half-normal MTP levels did not support normal levels of lipoprotein synthesis and secretion, and a complete deficiency of MTP caused lethal developmental abnormalities, perhaps because of an impaired capacity of the yolk sac to export lipids to the developing embryo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671739" 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>Using haplotype analysis in a study of 8 families with abetalipoproteinemia, <a href="#17" class="mim-tip-reference" title="Huang, L.-S., Janne, P. A., de Graaf, J., Cooper, M., Deckelbaum, R. J., Kayden, H., Breslow, J. L. <strong>Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.</strong> Am. J. Hum. Genet. 46: 1141-1148, 1990. Note: Erratum: Am. J. Hum. Genet. 47: 172 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2339706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2339706</a>]" pmid="2339706">Huang et al. (1990)</a> found clear evidence excluding the APOB gene as the site of the mutation in 4 of the families. In the other 4 families, inheritance of the disease was compatible with cosegregation with the APOB alleles but the lod score did not reach statistical significance (0.97 at theta = 0.0). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2339706" 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="#Dische1970" class="mim-tip-reference" title="Dische, M. R., Porro, R. S. <strong>The cardiac lesions in Bassen-Kornzweig syndrome: report of a case, with autopsy findings.</strong> Am. J. Med. 49: 568-571, 1970.">Dische and Porro (1970)</a>; <a href="#Dodge1967" class="mim-tip-reference" title="Dodge, J. T., Cohen, G., Kayden, H. J., Phillips, G. B. <strong>Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).</strong> J. Clin. Invest. 46: 357-368, 1967.">Dodge et al. (1967)</a>; <a href="#Fredrickson1972" class="mim-tip-reference" title="Fredrickson, D. S., Gotto, A. M., Levy, R. I. <strong>Familial lipoprotein deficiency.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.) : The Metabolic Basis of Inherited Disease. (3rd ed.)</strong> New York: McGraw-Hill (pub.) 1972. Pp. 493-530.">Fredrickson et al.
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(1972)</a>; <a href="#Herbert1985" class="mim-tip-reference" title="Herbert, P. N., Hyams, J. S., Bernier, D. N., Berman, M. M., Saritelli, A. L., Lynch, K. M., Nichols, A. V., Forte, T. M. <strong>Apolipoprotein B-100 deficiency: intestinal steatosis despite apolipoprotein B-48 synthesis.</strong> J. Clin. Invest. 76: 403-412, 1985.">Herbert et al. (1985)</a>; <a href="#Huang1985" class="mim-tip-reference" title="Huang, L.-S., Bock, S. C., Feinstein, S. I., Breslow, J. L. <strong>Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length.</strong> Proc. Nat. Acad. Sci. 82: 6825-6829, 1985.">Huang et al. (1985)</a>; <a href="#Isselbacher1964" class="mim-tip-reference" title="Isselbacher, K. J., Scheig, R., Plotkin, G. R., Caulfield, J. B. <strong>Congenital beta-lipoprotein deficiency: an hereditary disorder involving a defect in the absorption and transport of lipids.</strong> Medicine 43: 347-361, 1964.">Isselbacher et
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al. (1964)</a>; <a href="#Mier1960" class="mim-tip-reference" title="Mier, M., Schwartz, S. O., Boshes, B. <strong>Acanthocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome with associated metabolic disorder.</strong> Blood 16: 1586-1608, 1960.">Mier et al. (1960)</a>; <a href="#Muller1985" class="mim-tip-reference" title="Muller, D. P. R., Lloyd, J. K., Wolff, O. H. <strong>The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption.</strong> J. Inherit. Metab. Dis. 8 (suppl. 1): 88-92, 1985.">Muller et al. (1985)</a>; <a href="#Scanu1974" class="mim-tip-reference" title="Scanu, A. M., Aggerbeck, L. P., Kruski, A. W., Lim, C. T., Kayden, H. J. <strong>A study of the abnormal lipoproteins in abetalipoproteinemia.</strong> J. Clin. Invest. 53: 440-453, 1974.">Scanu et al.
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(1974)</a>; <a href="#Schwartz1963" class="mim-tip-reference" title="Schwartz, J. F., Rowland, L. P., Eder, H., Marks, P. A., Osserman, E. F., Hirschberg, E., Anderson, H. <strong>Bassen-Kornzweig syndrome: deficiency of serum beta-lipoprotein.</strong> Arch. Neurol. 8: 438-454, 1963.">Schwartz et al. (1963)</a>; <a href="#Steinberg1979" class="mim-tip-reference" title="Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J. <strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong> J. Clin. Invest. 64: 292-301, 1979.">Steinberg et al. (1979)</a>; <a href="#Wei1985" class="mim-tip-reference" title="Wei, C.-F., Chen, S.-H., Yang, C.-Y., Marcel, Y. L., Milne, R. W., Li, W.-H., Sparrow, J. T., Gotto, A. M., Jr., Chan, L. <strong>Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.</strong> Proc. Nat. Acad. Sci. 82: 7265-7269, 1985.">Wei et al.
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(1985)</a>
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|
|
<ol>
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<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Al-Shali2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Al-Shali, K., Wang, J., Rosen, F., Hegele, R. A.
|
|
<strong>Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.</strong>
|
|
Clin. Genet. 63: 135-138, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12630961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12630961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12630961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.0009-9163.2002.00175.x" target="_blank">Full Text</a>]
|
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|
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|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Azizi1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Azizi, E., Zaidman, J. L., Eshchar, J., Szeinberg, A.
|
|
<strong>Abetalipoproteinaemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides.</strong>
|
|
Acta Paediat. Scand. 67: 797-801, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/716878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">716878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=716878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1651-2227.1978.tb16264.x" target="_blank">Full Text</a>]
|
|
|
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bassen1950" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bassen, F. A., Kornzweig, A. L.
|
|
<strong>Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.</strong>
|
|
Blood 5: 381-387, 1950.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15411425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15411425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15411425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Benayoun2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benayoun, L., Granot, E., Rizel, L., Allon-Shalev, S., Behar, D. M., Ben-Yosef, T.
|
|
<strong>Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.</strong>
|
|
Molec. Genet. Metab. 90: 453-457, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17275380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17275380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17275380" 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/j.ymgme.2006.12.010" target="_blank">Full Text</a>]
|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Blackhart1986" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Blackhart, B. D., Ludwig, E. M., Pierolti, B. R., Caiati, L., Onasch, M. A., Wallis, S. C., Powell, L., Pease, R., Knott, T. J., Chu, M. L., Mahley, R. W., Scott, J., McCarthy, B. J., Levy-Wilson, B.
|
|
<strong>Structure of the apolipoprotein B gene.</strong>
|
|
J. Biol. Chem. 261: 15364-15367, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2946672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2946672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2946672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Braegger1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Braegger, C. P., Belli, D. C., Mentha, G., Steinmann, B.
|
|
<strong>Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.</strong>
|
|
Europ. J. Pediat. 157: 576-578, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1007/s004310050882" target="_blank">Full Text</a>]
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</p>
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|
</li>
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<li>
|
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<a id="7" class="mim-anchor"></a>
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<a id="Brunzell1983" class="mim-anchor"></a>
|
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<p class="mim-text-font">
|
|
Brunzell, J. D., Albers, J. J., Chait, A., Grundy, S. M., Groszek, E., McDonald, G. B.
|
|
<strong>Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.</strong>
|
|
J. Lipid Res. 24: 147-155, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6403642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6403642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6403642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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Dische, M. R., Porro, R. S.
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<strong>The cardiac lesions in Bassen-Kornzweig syndrome: report of a case, with autopsy findings.</strong>
|
|
Am. J. Med. 49: 568-571, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5477641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5477641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5477641" 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/s0002-9343(70)80053-5" target="_blank">Full Text</a>]
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Dodge, J. T., Cohen, G., Kayden, H. J., Phillips, G. B.
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<strong>Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).</strong>
|
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J. Clin. Invest. 46: 357-368, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6023771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI105537" target="_blank">Full Text</a>]
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Druez, G.
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<strong>Un nouveau cas d'acanthocytose: dysmorphie erythrocytaire congenitale avec retinite, troubles nerveux et stigmates degeneratifs.</strong>
|
|
Rev. Hemat. 14: 3-11, 1959.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13646324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13646324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13646324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dullaart, R. P. F., Speelberg, B., Schuurman, H.-J., Milne, R. W., Havekes, L. M., Marcel, Y. L., Geuze, H. J., Hulshof, M. M., Erkelens, D. W.
|
|
<strong>Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine: expression and evidence for local synthesis in recessive abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 78: 1397-1404, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2429992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2429992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2429992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI112727" target="_blank">Full Text</a>]
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Fredrickson, D. S., Gotto, A. M., Levy, R. I.
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<strong>Familial lipoprotein deficiency.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.) : The Metabolic Basis of Inherited Disease. (3rd ed.)</strong>
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New York: McGraw-Hill (pub.) 1972. Pp. 493-530.
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Glickman, R. M., Green, P. H. R., Lees, R. S., Lux, S. E., Kilgore, A.
|
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<strong>Immunofluorescence studies of apolipoprotein B in intestinal mucosa, absence in abetalipoproteinemia.</strong>
|
|
Gastroenterology 76: 288-292, 1979.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/365664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">365664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=365664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Harding1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harding, A. E., Muller, D. P. R., Thomas, P. K., Willison, H. J.
|
|
<strong>Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome.</strong>
|
|
Ann. Neurol. 12: 419-424, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7181449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7181449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7181449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410120503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Herbert1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Herbert, P. N., Hyams, J. S., Bernier, D. N., Berman, M. M., Saritelli, A. L., Lynch, K. M., Nichols, A. V., Forte, T. M.
|
|
<strong>Apolipoprotein B-100 deficiency: intestinal steatosis despite apolipoprotein B-48 synthesis.</strong>
|
|
J. Clin. Invest. 76: 403-412, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4031057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4031057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4031057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111986" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Huang1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Bock, S. C., Feinstein, S. I., Breslow, J. L.
|
|
<strong>Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 6825-6829, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2995989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2995989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2995989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.82.20.6825" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Huang1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Janne, P. A., de Graaf, J., Cooper, M., Deckelbaum, R. J., Kayden, H., Breslow, J. L.
|
|
<strong>Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.</strong>
|
|
Am. J. Hum. Genet. 46: 1141-1148, 1990. Note: Erratum: Am. J. Hum. Genet. 47: 172 only, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2339706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2339706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2339706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Illingworth1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Illingworth, D. R., Connor, W. E., Miller, R. G.
|
|
<strong>Abetalipoproteinemia: report of two cases and review of therapy.</strong>
|
|
Arch. Neurol. 37: 659-662, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7425890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7425890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7425890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1980.00500590083015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Isselbacher1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Isselbacher, K. J., Scheig, R., Plotkin, G. R., Caulfield, J. B.
|
|
<strong>Congenital beta-lipoprotein deficiency: an hereditary disorder involving a defect in the absorption and transport of lipids.</strong>
|
|
Medicine 43: 347-361, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14168744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14168744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14168744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Lackner1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lackner, K. J., Monge, J. C., Gregg, R. E., Hoeg, J. M., Triche, T. J., Law, S. W., Brewer, H. B., Jr.
|
|
<strong>Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 78: 1707-1712, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3782476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3782476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3782476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI112766" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Lee2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, J., Hegele, R. A.
|
|
<strong>Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.</strong>
|
|
J. Inherit. Metab. Dis. 37: 333-339, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24288038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24288038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24288038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s10545-013-9665-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Mier1960" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mier, M., Schwartz, S. O., Boshes, B.
|
|
<strong>Acanthocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome with associated metabolic disorder.</strong>
|
|
Blood 16: 1586-1608, 1960.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13770408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13770408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13770408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Muller1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Muller, D. P. R., Lloyd, J. K., Bird, A. C.
|
|
<strong>Long-term management of abetalipoproteinaemia: possible role for vitamin E.</strong>
|
|
Arch. Dis. Child. 52: 209-214, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/848999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">848999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=848999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/adc.52.3.209" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Muller1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Muller, D. P. R., Lloyd, J. K., Wolff, O. H.
|
|
<strong>The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption.</strong>
|
|
J. Inherit. Metab. Dis. 8 (suppl. 1): 88-92, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3930848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3930848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3930848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01800666" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Muller1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Muller, D. P. R., Lloyd, J. K.
|
|
<strong>Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.</strong>
|
|
Ann. N.Y. Acad. Sci. 393: 133-144, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6959555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6959555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6959555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1749-6632.1982.tb31239.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Ohashi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ohashi, K., Ishibashi, S., Osuga, J., Tozawa, R., Harada, K., Yahagi, N., Shionoiri, F., Iizuka, Y., Tamura, Y., Nagai, R., Illingworth, D. R., Gotoda, T., Yamada, N.
|
|
<strong>Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.</strong>
|
|
J. Lipid Res. 41: 1199-1204, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10946006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10946006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10946006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Partin1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Partin, J. S., Partin, J. C., Schubert, W. K., McAdams, A. J.
|
|
<strong>Liver ultrastructure in abetalipoproteinemia: evolution of micronodular cirrhosis.</strong>
|
|
Gastroenterology 67: 107-118, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4135110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4135110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4135110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Raabe1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raabe, M., Flynn, L. M., Zlot, C. H., Wong, J. S., Veniant, M. M., Hamilton, R. L., Young, S. G.
|
|
<strong>Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 8686-8691, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671739</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9671739[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=9671739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.95.15.8686" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Rehberg1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rehberg, E. F., Samson-Bouma, M.-E., Kienzle, B., Blinderman, L., Jamil, H., Wetterau, J. R., Aggerbeck, L. P., Gordon, D. A.
|
|
<strong>A novel abetalipoproteinemia genotype: identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.</strong>
|
|
J. Biol. Chem. 271: 29945-29952, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8939939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8939939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8939939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.271.47.29945" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Ross1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ross, R. S., Gregg, R. E., Law, S. W., Monge, J. C., Grant, S. M., Higuchi, K., Triche, T. J., Jefferson, J., Brewer, H. B., Jr.
|
|
<strong>Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the molecular level.</strong>
|
|
J. Clin. Invest. 81: 590-595, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2828430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113357" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Scanu1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scanu, A. M., Aggerbeck, L. P., Kruski, A. W., Lim, C. T., Kayden, H. J.
|
|
<strong>A study of the abnormal lipoproteins in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 53: 440-453, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11344558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11344558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11344558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI107578" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Schwartz1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Schwartz, J. F., Rowland, L. P., Eder, H., Marks, P. A., Osserman, E. F., Hirschberg, E., Anderson, H.
|
|
<strong>Bassen-Kornzweig syndrome: deficiency of serum beta-lipoprotein.</strong>
|
|
Arch. Neurol. 8: 438-454, 1963.
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Sharp1993" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Sharp, D., Blinderman, L., Combs, K. A., Kienzle, B., Ricci, B., Wager-Smith, K., Gil, C. M., Turck, C. W., Bouma, M.-E., Rader, D. J., Aggerbeck, L. P., Gregg, R. E., Gordon, D. A., Wetterau, J. R.
|
|
<strong>Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.</strong>
|
|
Nature 365: 65-69, 1993.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8361539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8361539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8361539" 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/10.1038/365065a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Shoulders1993" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Shoulders, C. C., Brett, D. J., Bayliss, J. D., Narcisi, T. M. E., Jarmuz, A., Grantham, T. T., Leoni, P. R. D., Bhattacharya, S., Pease, R. J., Cullen, P. M., Levi, S., Byfield, P. G. H., Purkiss, P., Scott, J.
|
|
<strong>Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.</strong>
|
|
Hum. Molec. Genet. 2: 2109-2116, 1993.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8111381" 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/10.1093/hmg/2.12.2109" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Singer1952" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Singer, K., Fisher, B., Perlstein, M. A.
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|
<strong>Acanthrocytosis (sic): a genetic erythrocytic malformation.</strong>
|
|
Blood 7: 577-591, 1952.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14925152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14925152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14925152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Sniderman1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sniderman, A., Shapiro, S., Marpole, D., Skinner, B., Teng, B., Kwiterovich, P. O., Jr.
|
|
<strong>Association of coronary atherosclerosis with hyperapobetalipoproteinemia (increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins).</strong>
|
|
Proc. Nat. Acad. Sci. 77: 604-608, 1980.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6928647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6928647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6928647" 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/10.1073/pnas.77.1.604" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Sobrevilla1964" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Sobrevilla, L. A., Goodman, M. L., Kane, C. A.
|
|
<strong>Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome).</strong>
|
|
Am. J. Med. 37: 821-832, 1964.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14237436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14237436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14237436" 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/10.1016/0002-9343(64)90030-0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Steinberg1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J.
|
|
<strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong>
|
|
J. Clin. Invest. 64: 292-301, 1979.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/221546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">221546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=221546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI109451" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Talmud1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Talmud, P. J., Lloyd, J. K., Muller, D. P. R., Collins, D. R., Scott, J., Humphries, S.
|
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<strong>Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 82: 1803-1806, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2903181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113795" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Wei1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wei, C.-F., Chen, S.-H., Yang, C.-Y., Marcel, Y. L., Milne, R. W., Li, W.-H., Sparrow, J. T., Gotto, A. M., Jr., Chan, L.
|
|
<strong>Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 7265-7269, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2932736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2932736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2932736" 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/10.1073/pnas.82.21.7265" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="41" class="mim-anchor"></a>
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<a id="Wetterau1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wetterau, J. R., Aggerbeck, L. P., Bouma, M.-E., Eisenberg, C., Munck, A., Hermier, M., Schmitz, J., Gay, G., Rader, D. J., Gregg, R. E.
|
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<strong>Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.</strong>
|
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Science 258: 999-1001, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1439810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1439810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1439810" 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/10.1126/science.1439810" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Ada Hamosh - updated : 6/14/2007
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 - updated : 11/4/1998<br>Victor A. McKusick - updated : 9/3/1998<br>Victor A. McKusick - updated : 8/11/1998
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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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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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 03/23/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 03/07/2019<br>carol : 07/09/2016<br>mcolton : 8/12/2014<br>carol : 12/9/2013<br>terry : 6/4/2012<br>terry : 5/16/2012<br>terry : 2/10/2009<br>alopez : 6/22/2007<br>terry : 6/14/2007<br>carol : 1/30/2006<br>ckniffin : 1/5/2006<br>dkim : 11/13/1998<br>carol : 11/12/1998<br>terry : 11/4/1998<br>carol : 9/9/1998<br>alopez : 9/8/1998<br>terry : 9/3/1998<br>carol : 8/12/1998<br>terry : 8/11/1998<br>carol : 7/17/1998<br>terry : 6/4/1998<br>terry : 1/28/1998<br>mimadm : 11/12/1995<br>davew : 8/26/1994<br>carol : 2/28/1994<br>carol : 9/21/1993<br>carol : 9/17/1993<br>carol : 11/20/1992
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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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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 200100
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ABETALIPOPROTEINEMIA; ABL
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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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</div>
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<div>
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<div >
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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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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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ACANTHOCYTOSIS<br />
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BASSEN-KORNZWEIG SYNDROME<br />
|
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MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY<br />
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MTP DEFICIENCY
|
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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 />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 190787008;
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<strong>ICD10CM:</strong> E78.6;
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<strong>ORPHA:</strong> 14;
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<strong>DO:</strong> 1386;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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 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>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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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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4q23
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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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Abetalipoproteinemia
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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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200100
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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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Autosomal recessive
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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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3
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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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MTTP
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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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157147
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because abetalipoproteinemia is caused by homozygous or compound heterozygous mutation in the MTP gene (MTTP; 157147) on chromosome 4q23.</p><p>See familial hypobetalipoproteinemia (FHBL; 615558) for a similar disorder caused by mutation in the APOB gene (107730).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Features are celiac syndrome, pigmentary degeneration of the retina, progressive ataxic neuropathy, and a peculiar 'burr-cell' malformation of the red cells called acanthocytosis. Intestinal absorption of lipids is defective, serum cholesterol very low, and serum beta lipoprotein absent. Almost all of the earlier reported patients were Jewish. For example, the first case was that of an 18-year-old Jewish girl referred to the Consultation Service at the Mt. Sinai Hospital in New York City for diagnostic studies (Bassen and Kornzweig, 1950). The picture was that of Friedreich ataxia and retinitis pigmentosa with red cells of bizarre shapes. The girl had also had protracted steatorrhea from childhood, and a 9-year-old brother had red cells of the same type and early retinal pigmentary changes. For the peculiar red cells, Singer et al. (1952) conferred the designation 'acanthrocytes,' later changed to 'acanthocytes' by Druez (1959). </p><p>Autopsy (Sobrevilla et al., 1964) and biopsy of peripheral nerves showed extensive central and peripheral demyelination. </p><p>Many of the manifestations of this disorder are the consequence of vitamin E deficiency, and treatment with vitamin E is recommended (Muller et al., 1977; Azizi et al., 1978; Muller and Lloyd, 1982). </p><p>Spinocerebellar degeneration occurs with various forms of chronic intestinal malabsorption, including that of cholestatic liver disease and of Crohn disease (Harding et al., 1982). Despite the absence of low density lipoproteins and chylomicron fragments from the plasma of patients with abetalipoproteinemia, the rates of cholesterol synthesis and the number of LDL receptors expressed on freshly isolated cells are not markedly increased. </p><p>Glickman et al. (1979) had found absence of apoB immunoreactivity in the enterocytes of 2 abetalipoproteinemia patients and had postulated a genetic defect in the synthesis of apoB. The results of Dullaart et al. (1986) suggest a defect in secretion of apoB or a failure of appropriate secretion with lipids in both liver and intestine. </p><p>Pathologic implications of apolipoprotein B were discussed by Brunzell et al. (1983) and by Sniderman et al. (1980). </p><p>Lackner et al. (1986) found a massive increase of apoB-100 mRNA in ABL hepatocytes, and the synthesis of apoB, or an apoB-like protein, which is not secreted by the cells. The first result suggested that the apoB-100 gene is considerably up-regulated in this disorder. An abnormally low plasma LDL concentration may be the stimulus. ABL must not be due to a promoter or enhancer defect, because in that case an abnormally low mRNA level would be expected. Neither Southern nor Northern blots revealed any insertions or deletions within the gene, nor did they provide any evidence for a splicing defect. Blackhart et al. (1986) found no abnormality of the APOB gene on Southern blot analysis, but found increased amounts of mRNA and apoB protein in hepatocytes. Blackhart et al. (1986) and Ross et al. (1988) proposed that the molecular defect in abetalipoproteinemia involves defective cellular secretion of the protein. The mutation could be either in the APOB gene itself or in some other product necessary for apoB secretion. </p><p>Liver disease is an unusual feature of abetalipoproteinemia. In some patients steatosis of the liver has been found, and in a few patients liver cirrhosis has been observed. In these cases, medium chain triglyceride (MCT) complementation has been implicated as a cause of liver disease (Illingworth et al., 1980; Partin et al., 1974). Braegger et al. (1998) described a 16-year-old girl with abetalipoproteinemia who underwent liver transplantation for hepatic cirrhosis. After this procedure, her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant MTP, remained expressed in the intestine. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lee and Hegele (2014) stated that the incidences of both ABL and familial hyopbetalipoproteinemia are reported as less than 1 in 1 million. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Talmud et al. (1988) presented evidence that the defect in abetalipoproteinemia (at least in the 2 families studied) did not involve the APOB gene: in each of these 2 families, 2 affected children inherited different APOB RFLP alleles from at least 1 parent, whereas the sibs would be anticipated to share common alleles if this disorder were due to an APOB mutation. In one of these families, Shoulders et al. (1993) identified a homozygous splicing mutation in the gene encoding the 97-kD subunit of microsomal triglyceride transfer protein (157147.0003). </p><p>Microsomal triglyceride transfer protein, which catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid from phospholipid surfaces, is a heterodimer composed of the multifunctional protein, protein disulfide isomerase (176790), and a unique large subunit with an apparent molecular mass of 88 kD (MTP; 157147). MTP is isolated as a soluble protein from the lumen of the microsomal fraction of liver and intestine. Wetterau et al. (1992) demonstrated that MTP activity and the large subunit of MTP were present in intestinal biopsy samples from 8 control persons but were absent in 4 abetalipoproteinemic subjects. They suggested that the findings proved that MTP is the site of the defect in abetalipoproteinemia and that MTP is required for lipoprotein assembly. MTP was normal in chylomicron retention disease (Anderson disease; 246700), a disorder with some of the same features as abetalipoproteinemia. Sharp et al. (1993) demonstrated point mutations in the large MTP subunit in 2 ABL patients (157147.0001-157147.0002). </p><p>In a patient with abetalipoproteinemia studied by Wetterau et al. (1992), Rehberg et al. (1996) identified compound heterozygous mutations in the MTTP gene (157147.0005-157145.0006). </p><p>In a Japanese patient with abetalipoproteinemia, Ohashi et al. (2000) identified a homozygous missense mutation in the MTP gene (157147.0007). The parents were consanguineous. </p><p>In a 58-year-old man with abetalipoproteinemia, Al-Shali et al. (2003) identified a homozygous missense mutation in the MTP gene (157147.0008). </p><p>Benayoun et al. (2007) investigated the genetic basis for abetalipoproteinemia in a cohort of Israeli families. In Ashkenazi Jewish patients, Benayoun et al. (2007) identified a conserved haplotype and a common MTP mutation, gly865 to ter (157147.0010), with a carrier frequency of 1:131 in this population. They also reported the first case of abetalipoproteinemia and additional abnormalities in a Muslim Arab patient, due to a homozygous contiguous gene deletion of approximately 481 kb, including MTP and 8 other genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Raabe et al. (1998) used gene targeting to knock out the mouse MTP gene (Mttp). In heterozygous knockout mice, the MTP mRNA, protein, and activity levels were reduced by 50% in both liver and intestine. Compared with homozygous normal control mice, chow-fed heterozygous mice had reduced plasma levels of low density lipoprotein cholesterol and had a 28% reduction in plasma apoB-100 levels. On a high-fat diet, the heterozygous mice exhibited a marked reduction in total plasma cholesterol levels, compared with those in homozygous normal mice. Both the liver of adult heterozygous mice and the visceral endoderm of the yolk sacs from heterozygous embryos manifested an accumulation of cytosolic fat. All homozygous knockout embryos died during embryonic development. In the visceral endoderm of homozygous defective yolk sacs, lipoprotein synthesis was virtually absent, and there was a marked accumulation of cytosolic fat droplets. Thus, half-normal MTP levels did not support normal levels of lipoprotein synthesis and secretion, and a complete deficiency of MTP caused lethal developmental abnormalities, perhaps because of an impaired capacity of the yolk sac to export lipids to the developing embryo. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>Using haplotype analysis in a study of 8 families with abetalipoproteinemia, Huang et al. (1990) found clear evidence excluding the APOB gene as the site of the mutation in 4 of the families. In the other 4 families, inheritance of the disease was compatible with cosegregation with the APOB alleles but the lod score did not reach statistical significance (0.97 at theta = 0.0). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<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>
|
|
<span class="mim-text-font">
|
|
Dische and Porro (1970); Dodge et al. (1967); Fredrickson et al.
|
|
(1972); Herbert et al. (1985); Huang et al. (1985); Isselbacher et
|
|
al. (1964); Mier et al. (1960); Muller et al. (1985); Scanu et al.
|
|
(1974); Schwartz et al. (1963); Steinberg et al. (1979); Wei et al.
|
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(1985)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Al-Shali, K., Wang, J., Rosen, F., Hegele, R. A.
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<strong>Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.</strong>
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Clin. Genet. 63: 135-138, 2003.
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[PubMed: 12630961]
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[Full Text: https://doi.org/10.1046/j.0009-9163.2002.00175.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Azizi, E., Zaidman, J. L., Eshchar, J., Szeinberg, A.
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<strong>Abetalipoproteinaemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides.</strong>
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Acta Paediat. Scand. 67: 797-801, 1978.
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[PubMed: 716878]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1978.tb16264.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bassen, F. A., Kornzweig, A. L.
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<strong>Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.</strong>
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Blood 5: 381-387, 1950.
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[PubMed: 15411425]
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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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Benayoun, L., Granot, E., Rizel, L., Allon-Shalev, S., Behar, D. M., Ben-Yosef, T.
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<strong>Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.</strong>
|
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Molec. Genet. Metab. 90: 453-457, 2007.
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[PubMed: 17275380]
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[Full Text: https://doi.org/10.1016/j.ymgme.2006.12.010]
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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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Blackhart, B. D., Ludwig, E. M., Pierolti, B. R., Caiati, L., Onasch, M. A., Wallis, S. C., Powell, L., Pease, R., Knott, T. J., Chu, M. L., Mahley, R. W., Scott, J., McCarthy, B. J., Levy-Wilson, B.
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<strong>Structure of the apolipoprotein B gene.</strong>
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J. Biol. Chem. 261: 15364-15367, 1986.
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[PubMed: 2946672]
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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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Braegger, C. P., Belli, D. C., Mentha, G., Steinmann, B.
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<strong>Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.</strong>
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Europ. J. Pediat. 157: 576-578, 1998.
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[PubMed: 9686820]
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[Full Text: https://doi.org/10.1007/s004310050882]
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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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Brunzell, J. D., Albers, J. J., Chait, A., Grundy, S. M., Groszek, E., McDonald, G. B.
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<strong>Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.</strong>
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J. Lipid Res. 24: 147-155, 1983.
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[PubMed: 6403642]
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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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Dische, M. R., Porro, R. S.
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<strong>The cardiac lesions in Bassen-Kornzweig syndrome: report of a case, with autopsy findings.</strong>
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Am. J. Med. 49: 568-571, 1970.
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[PubMed: 5477641]
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[Full Text: https://doi.org/10.1016/s0002-9343(70)80053-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dodge, J. T., Cohen, G., Kayden, H. J., Phillips, G. B.
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<strong>Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).</strong>
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J. Clin. Invest. 46: 357-368, 1967.
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[PubMed: 6023771]
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[Full Text: https://doi.org/10.1172/JCI105537]
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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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Druez, G.
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<strong>Un nouveau cas d'acanthocytose: dysmorphie erythrocytaire congenitale avec retinite, troubles nerveux et stigmates degeneratifs.</strong>
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Rev. Hemat. 14: 3-11, 1959.
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[PubMed: 13646324]
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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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Dullaart, R. P. F., Speelberg, B., Schuurman, H.-J., Milne, R. W., Havekes, L. M., Marcel, Y. L., Geuze, H. J., Hulshof, M. M., Erkelens, D. W.
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<strong>Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine: expression and evidence for local synthesis in recessive abetalipoproteinemia.</strong>
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J. Clin. Invest. 78: 1397-1404, 1986.
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[PubMed: 2429992]
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[Full Text: https://doi.org/10.1172/JCI112727]
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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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Fredrickson, D. S., Gotto, A. M., Levy, R. I.
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<strong>Familial lipoprotein deficiency.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.) : The Metabolic Basis of Inherited Disease. (3rd ed.)</strong>
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|
New York: McGraw-Hill (pub.) 1972. Pp. 493-530.
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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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Glickman, R. M., Green, P. H. R., Lees, R. S., Lux, S. E., Kilgore, A.
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<strong>Immunofluorescence studies of apolipoprotein B in intestinal mucosa, absence in abetalipoproteinemia.</strong>
|
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Gastroenterology 76: 288-292, 1979.
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[PubMed: 365664]
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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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Harding, A. E., Muller, D. P. R., Thomas, P. K., Willison, H. J.
|
|
<strong>Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome.</strong>
|
|
Ann. Neurol. 12: 419-424, 1982.
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[PubMed: 7181449]
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[Full Text: https://doi.org/10.1002/ana.410120503]
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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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Herbert, P. N., Hyams, J. S., Bernier, D. N., Berman, M. M., Saritelli, A. L., Lynch, K. M., Nichols, A. V., Forte, T. M.
|
|
<strong>Apolipoprotein B-100 deficiency: intestinal steatosis despite apolipoprotein B-48 synthesis.</strong>
|
|
J. Clin. Invest. 76: 403-412, 1985.
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[PubMed: 4031057]
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[Full Text: https://doi.org/10.1172/JCI111986]
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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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Huang, L.-S., Bock, S. C., Feinstein, S. I., Breslow, J. L.
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<strong>Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length.</strong>
|
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Proc. Nat. Acad. Sci. 82: 6825-6829, 1985.
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[PubMed: 2995989]
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[Full Text: https://doi.org/10.1073/pnas.82.20.6825]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Huang, L.-S., Janne, P. A., de Graaf, J., Cooper, M., Deckelbaum, R. J., Kayden, H., Breslow, J. L.
|
|
<strong>Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.</strong>
|
|
Am. J. Hum. Genet. 46: 1141-1148, 1990. Note: Erratum: Am. J. Hum. Genet. 47: 172 only, 1990.
|
|
|
|
|
|
[PubMed: 2339706]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Illingworth, D. R., Connor, W. E., Miller, R. G.
|
|
<strong>Abetalipoproteinemia: report of two cases and review of therapy.</strong>
|
|
Arch. Neurol. 37: 659-662, 1980.
|
|
|
|
|
|
[PubMed: 7425890]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1980.00500590083015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Isselbacher, K. J., Scheig, R., Plotkin, G. R., Caulfield, J. B.
|
|
<strong>Congenital beta-lipoprotein deficiency: an hereditary disorder involving a defect in the absorption and transport of lipids.</strong>
|
|
Medicine 43: 347-361, 1964.
|
|
|
|
|
|
[PubMed: 14168744]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lackner, K. J., Monge, J. C., Gregg, R. E., Hoeg, J. M., Triche, T. J., Law, S. W., Brewer, H. B., Jr.
|
|
<strong>Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 78: 1707-1712, 1986.
|
|
|
|
|
|
[PubMed: 3782476]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112766]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, J., Hegele, R. A.
|
|
<strong>Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.</strong>
|
|
J. Inherit. Metab. Dis. 37: 333-339, 2014.
|
|
|
|
|
|
[PubMed: 24288038]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10545-013-9665-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mier, M., Schwartz, S. O., Boshes, B.
|
|
<strong>Acanthocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome with associated metabolic disorder.</strong>
|
|
Blood 16: 1586-1608, 1960.
|
|
|
|
|
|
[PubMed: 13770408]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Muller, D. P. R., Lloyd, J. K., Bird, A. C.
|
|
<strong>Long-term management of abetalipoproteinaemia: possible role for vitamin E.</strong>
|
|
Arch. Dis. Child. 52: 209-214, 1977.
|
|
|
|
|
|
[PubMed: 848999]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.52.3.209]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Muller, D. P. R., Lloyd, J. K., Wolff, O. H.
|
|
<strong>The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption.</strong>
|
|
J. Inherit. Metab. Dis. 8 (suppl. 1): 88-92, 1985.
|
|
|
|
|
|
[PubMed: 3930848]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01800666]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Muller, D. P. R., Lloyd, J. K.
|
|
<strong>Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.</strong>
|
|
Ann. N.Y. Acad. Sci. 393: 133-144, 1982.
|
|
|
|
|
|
[PubMed: 6959555]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1749-6632.1982.tb31239.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ohashi, K., Ishibashi, S., Osuga, J., Tozawa, R., Harada, K., Yahagi, N., Shionoiri, F., Iizuka, Y., Tamura, Y., Nagai, R., Illingworth, D. R., Gotoda, T., Yamada, N.
|
|
<strong>Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.</strong>
|
|
J. Lipid Res. 41: 1199-1204, 2000.
|
|
|
|
|
|
[PubMed: 10946006]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Partin, J. S., Partin, J. C., Schubert, W. K., McAdams, A. J.
|
|
<strong>Liver ultrastructure in abetalipoproteinemia: evolution of micronodular cirrhosis.</strong>
|
|
Gastroenterology 67: 107-118, 1974.
|
|
|
|
|
|
[PubMed: 4135110]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raabe, M., Flynn, L. M., Zlot, C. H., Wong, J. S., Veniant, M. M., Hamilton, R. L., Young, S. G.
|
|
<strong>Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 8686-8691, 1998.
|
|
|
|
|
|
[PubMed: 9671739]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.95.15.8686]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rehberg, E. F., Samson-Bouma, M.-E., Kienzle, B., Blinderman, L., Jamil, H., Wetterau, J. R., Aggerbeck, L. P., Gordon, D. A.
|
|
<strong>A novel abetalipoproteinemia genotype: identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.</strong>
|
|
J. Biol. Chem. 271: 29945-29952, 1996.
|
|
|
|
|
|
[PubMed: 8939939]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.271.47.29945]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ross, R. S., Gregg, R. E., Law, S. W., Monge, J. C., Grant, S. M., Higuchi, K., Triche, T. J., Jefferson, J., Brewer, H. B., Jr.
|
|
<strong>Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the molecular level.</strong>
|
|
J. Clin. Invest. 81: 590-595, 1988.
|
|
|
|
|
|
[PubMed: 2828430]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113357]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scanu, A. M., Aggerbeck, L. P., Kruski, A. W., Lim, C. T., Kayden, H. J.
|
|
<strong>A study of the abnormal lipoproteins in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 53: 440-453, 1974.
|
|
|
|
|
|
[PubMed: 11344558]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI107578]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, J. F., Rowland, L. P., Eder, H., Marks, P. A., Osserman, E. F., Hirschberg, E., Anderson, H.
|
|
<strong>Bassen-Kornzweig syndrome: deficiency of serum beta-lipoprotein.</strong>
|
|
Arch. Neurol. 8: 438-454, 1963.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sharp, D., Blinderman, L., Combs, K. A., Kienzle, B., Ricci, B., Wager-Smith, K., Gil, C. M., Turck, C. W., Bouma, M.-E., Rader, D. J., Aggerbeck, L. P., Gregg, R. E., Gordon, D. A., Wetterau, J. R.
|
|
<strong>Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.</strong>
|
|
Nature 365: 65-69, 1993.
|
|
|
|
|
|
[PubMed: 8361539]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/365065a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shoulders, C. C., Brett, D. J., Bayliss, J. D., Narcisi, T. M. E., Jarmuz, A., Grantham, T. T., Leoni, P. R. D., Bhattacharya, S., Pease, R. J., Cullen, P. M., Levi, S., Byfield, P. G. H., Purkiss, P., Scott, J.
|
|
<strong>Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.</strong>
|
|
Hum. Molec. Genet. 2: 2109-2116, 1993.
|
|
|
|
|
|
[PubMed: 8111381]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.12.2109]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Singer, K., Fisher, B., Perlstein, M. A.
|
|
<strong>Acanthrocytosis (sic): a genetic erythrocytic malformation.</strong>
|
|
Blood 7: 577-591, 1952.
|
|
|
|
|
|
[PubMed: 14925152]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sniderman, A., Shapiro, S., Marpole, D., Skinner, B., Teng, B., Kwiterovich, P. O., Jr.
|
|
<strong>Association of coronary atherosclerosis with hyperapobetalipoproteinemia (increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins).</strong>
|
|
Proc. Nat. Acad. Sci. 77: 604-608, 1980.
|
|
|
|
|
|
[PubMed: 6928647]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.77.1.604]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sobrevilla, L. A., Goodman, M. L., Kane, C. A.
|
|
<strong>Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome).</strong>
|
|
Am. J. Med. 37: 821-832, 1964.
|
|
|
|
|
|
[PubMed: 14237436]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(64)90030-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J.
|
|
<strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong>
|
|
J. Clin. Invest. 64: 292-301, 1979.
|
|
|
|
|
|
[PubMed: 221546]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109451]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Talmud, P. J., Lloyd, J. K., Muller, D. P. R., Collins, D. R., Scott, J., Humphries, S.
|
|
<strong>Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 82: 1803-1806, 1988.
|
|
|
|
|
|
[PubMed: 2903181]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113795]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wei, C.-F., Chen, S.-H., Yang, C.-Y., Marcel, Y. L., Milne, R. W., Li, W.-H., Sparrow, J. T., Gotto, A. M., Jr., Chan, L.
|
|
<strong>Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 7265-7269, 1985.
|
|
|
|
|
|
[PubMed: 2932736]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.21.7265]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wetterau, J. R., Aggerbeck, L. P., Bouma, M.-E., Eisenberg, C., Munck, A., Hermier, M., Schmitz, J., Gay, G., Rader, D. J., Gregg, R. E.
|
|
<strong>Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.</strong>
|
|
Science 258: 999-1001, 1992.
|
|
|
|
|
|
[PubMed: 1439810]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1439810]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
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|
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|
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Thank you in advance for your generous support, <br />
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