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Entry
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- #118450 - ALAGILLE SYNDROME 1; ALGS1
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- OMIM
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<p>
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<span class="h4">#118450</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/118450"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS118450"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=ALAGILLE SYNDROME" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19894&Typ=Pat" title="Alagille syndrome due to 20p12 microdeletion" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Alagille syndrome due to 2… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19895&Typ=Pat" title="Alagille syndrome due to a JAG1 point mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Alagille syndrome due to a… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=253&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Alagille syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1273/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7661" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118450[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261600" title="Alagille syndrome due to 20p12 microdeletion" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Alagille syndrome due to 2…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261619" title="Alagille syndrome due to a JAG1 point mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Alagille syndrome due to a…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Alagille syndrome</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/317f0864-711d-446d-9737-51ced3799560/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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<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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<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:9245" 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/118450" 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:9245" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</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:118450" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div 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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 31742004<br />
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<strong>ICD10CM:</strong> Q44.71<br />
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<strong>ORPHA:</strong> 261600, 261619, 52<br />
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<strong>DO:</strong> 9245<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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118450
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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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ALAGILLE SYNDROME 1; ALGS1
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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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|
ALAGILLE SYNDROME; ALGS<br />
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|
ALAGILLE-WATSON SYNDROME; AWS<br />
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CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS<br />
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ARTERIOHEPATIC DYSPLASIA; AHD<br />
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HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
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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>
|
|
<span class="mim-font">
|
|
<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">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
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</th>
|
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<th>
|
|
Phenotype
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
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</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/99?start=-3&limit=10&highlight=99">
|
|
20p12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Alagille syndrome 1
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118450"> 118450 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
JAG1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601920"> 601920 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/118450" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS118450" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/118450" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/118450" 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>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
|
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|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</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> 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> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Triangular face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Triangular-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Prominent zygomatic arch <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861623</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Upslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br /> -
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Posterior embryotoxon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/392437005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">392437005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546967</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000627</a>]</span><br /> -
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Anterior chamber anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204142009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204142009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3152182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3152182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000593</a>]</span><br /> -
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Eccentric or ectopic pupils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861624</a>]</span><br /> -
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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 /> -
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Difficulty with dark adaptation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677885</a>]</span><br /> -
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Chorioretinal atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95686007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95686007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048273</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000533</a>]</span><br /> -
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Bull's-eye maculopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424169002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424169002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1828210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1828210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011504" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011504</a>]</span><br /> -
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Band keratopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35055000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35055000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H18.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H18.42</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000585</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000585</a>]</span><br /> -
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Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
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Retinal pigment clumping <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1328514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1328514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br /> -
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Axenfeld anomaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204152008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204152008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q15.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q15.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266548</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001492" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001492</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001492" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001492</a>]</span><br /> -
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Microcornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
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Choroidal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231998005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231998005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339429</a>]</span><br /> -
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Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
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Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
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Anomalous optic disc <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861625&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861625</a>]</span><br /> -
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Reduced responses seen on photopic electroretinography (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4692706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4692706</a>]</span><br /> -
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Borderline responses on scotopic ERG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677886</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> Nose </em>
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</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Long nose with bulbous tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861626</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> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral pulmonary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253631001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253631001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345030</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004969</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004969</a>]</span><br /> -
|
|
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
|
|
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
|
|
Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
|
|
Double-outlet right ventricle <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7484005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7484005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001719</a>]</span><br /> -
|
|
Pulmonary valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarctation of aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7305005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7305005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/747.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span><br /> -
|
|
Cerebrovascular accidents <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230690007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230690007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038454</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span><br /> -
|
|
Moyamoya syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69116000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69116000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89142007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89142007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I67.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/437.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">437.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026654</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Rib anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000772</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000772</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cholestasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30144000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30144000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33688009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33688009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197446008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197446008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K83.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K83.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/576.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">576.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001396</a>]</span><br /> -
|
|
Intrahepatic duct deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006571</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006571</a>]</span><br /> -
|
|
Liver disease, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859539</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235856003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235856003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1290917001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1290917001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K70-K77" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K70-K77</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/573.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">573.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001392</a>]</span><br /> -
|
|
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</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">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Pancreatic insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37992001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37992001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47367009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47367009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K86.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K86.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030293</a>, <a href="https://bioportal.bioontology.org/search?q=C0267963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001738</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Biliary Tract </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Extrahepatic duct involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538382</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal involvement (in 39%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549566</a>]</span><br /> -
|
|
Small kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359563005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359563005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236448000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236448000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32659003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32659003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N27.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N27.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N27" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N27</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/589.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">589.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">589</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266295</a>, <a href="https://bioportal.bioontology.org/search?q=C0156247&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156247</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span><br /> -
|
|
Echogenic kidneys <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004719</a>]</span><br /> -
|
|
Renal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204949001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204949001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3536714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536714</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span><br /> -
|
|
Vesicoureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br /> -
|
|
Renal tubular acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1776003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1776003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N25.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N25.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span><br /> -
|
|
Urinary obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7163005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7163005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0178879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0178879</a>]</span><br /> -
|
|
Renal mesangiolipidosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861619</a>]</span><br /> -
|
|
Medullary cystic disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204957003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204957003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939174</a>, <a href="https://bioportal.bioontology.org/search?q=C0687120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008659</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008659</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vertebral anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61367005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61367005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834129&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834129</a>, <a href="https://bioportal.bioontology.org/search?q=C0265343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265343</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span><br /> -
|
|
Butterfly vertebral arch <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861627</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004617" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004617</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004617" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004617</a>]</span><br /> -
|
|
Hemivertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68359008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68359008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
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</span>
|
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</div>
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</div>
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<div>
|
|
<div>
|
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<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short ulnae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003022</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003022</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>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839829</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</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>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Jaundice, neonatal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387712008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387712008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P59.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P59.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006579</a>]</span><br /> -
|
|
Xanthomas (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75594004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75594004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63103006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63103006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302314</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001114</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
|
|
|
|
</div>
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|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation, mild, (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Learning disability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408468001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408468001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F81.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321592</a>, <a href="https://bioportal.bioontology.org/search?q=C0751265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751265</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent deep tendon reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hepatocellular carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109841003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109841003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/187769009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">187769009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1186630006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1186630006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25370001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25370001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C22.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C22.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2239176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239176</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span><br /> -
|
|
Papillary thyroid carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1336196002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1336196002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255029007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255029007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002895</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002895</a>]</span><br />
|
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|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Increased conjugated bilirubin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0855625&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0855625</a>]</span><br /> -
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Hypercholesterolemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13644009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13644009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1522133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1522133</a>, <a href="https://bioportal.bioontology.org/search?q=C0020443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span><br /> -
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Hypertriglyceridemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302870006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302870006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166848004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166848004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020557</a>, <a href="https://bioportal.bioontology.org/search?q=C1522137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1522137</a>, <a href="https://bioportal.bioontology.org/search?q=C0813230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span><br /> -
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Elevated transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438717</a>, <a href="https://bioportal.bioontology.org/search?q=C2242708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
|
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Variable expression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868500&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868500</a>]</span><br /> -
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Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
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Prevalence of 1 in 70,000<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the jagged 1 gene (JAG1, <a href="/entry/601920#0001">601920.0001</a>)<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 class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
|
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Alagille syndrome
|
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- <a href="/phenotypicSeries/PS118450">PS118450</a>
|
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- 2 Entries
|
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</h5>
|
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/981?start=-3&limit=10&highlight=981"> 1p12 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610205"> Alagille syndrome 2 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610205"> 610205 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600275"> NOTCH2 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600275"> 600275 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/20/99?start=-3&limit=10&highlight=99"> 20p12.2 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/118450"> Alagille syndrome 1 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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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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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/118450"> 118450 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601920"> JAG1 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601920"> 601920 </a>
|
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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 class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Alagille syndrome can be caused by heterozygous mutation in the Jagged-1 gene (JAG1; <a href="/entry/601920">601920</a>) on chromosome 20p12.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (<a href="#39" class="mim-tip-reference" title="Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M. E. M., Rand, E. B., Piccoli, D. A., Hood, L., Spinner, N. B. <strong>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.</strong> Nature Genet. 16: 243-251, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207788</a>] [<a href="https://doi.org/10.1038/ng0797-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207788">Li et al., 1997</a>). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (<a href="#29" class="mim-tip-reference" title="Kamath, B. M., Podkameni, G., Hutchinson, A. L., Leonard, L. D., Gerfen, J., Krantz, I. D., Piccoli, D. A., Spinner, N. B., Loomes, K. M., Meyers, K. <strong>Renal anomalies in Alagille syndrome: a disease-defining feature.</strong> Am. J. Med. Genet. 158A: 85-89, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22105858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22105858</a>] [<a href="https://doi.org/10.1002/ajmg.a.34369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22105858">Kamath et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22105858+9207788" 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="#70" class="mim-tip-reference" title="Turnpenny, P. D., Ellard, S. <strong>Alagille syndrome: pathogenesis, diagnosis and management.</strong> Europ. J. Hum. Genet. 20: 251-257, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21934706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21934706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21934706[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/10.1038/ejhg.2011.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21934706">Turnpenny and Ellard (2012)</a> reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21934706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Alagille Syndrome</em></strong></p><p>
|
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Another form of Alagille syndrome (ALGS2; <a href="/entry/610205">610205</a>) is caused by mutation in the NOTCH2 gene (<a href="/entry/600275">600275</a>).</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>In addition to neonatal jaundice, features of this syndrome include the following: in the eye, posterior embryotoxon and retinal pigmentary changes; in the heart, pulmonic valvular stenosis as well as peripheral arterial stenosis; in the bones, abnormal vertebrae ('butterfly' vertebrae) and decrease in interpediculate distance in the lumbar spine; in the nervous system, absent deep tendon reflexes and poor school performance; in the facies, broad forehead, pointed mandible and bulbous tip of the nose and in the fingers, varying degrees of foreshortening (<a href="#71" class="mim-tip-reference" title="Watson, G. H., Miller, V. <strong>Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.</strong> Arch. Dis. Child. 48: 459-466, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4712776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4712776</a>] [<a href="https://doi.org/10.1136/adc.48.6.459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4712776">Watson and Miller, 1973</a>; <a href="#3" class="mim-tip-reference" title="Alagille, D., Odievre, M., Gautier, M., Dommergues, J. P. <strong>Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur.</strong> J. Pediat. 86: 63-71, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/803282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">803282</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80706-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="803282">Alagille et al., 1975</a>; <a href="#62" class="mim-tip-reference" title="Rosenfield, N. S., Kelley, M. J., Jensen, P. S., Cotlier, E., Rosenfield, A. T., Riely, C. A. <strong>Arteriohepatic dysplasia: radiologic features of a new syndrome.</strong> Am. J. Roentgen. 135: 1217-1223, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6779528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6779528</a>] [<a href="https://doi.org/10.2214/ajr.135.6.1217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6779528">Rosenfield et al., 1980</a>). Histology of the liver demonstrates few intrahepatic bile ducts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=803282+6779528+4712776" 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="#65" class="mim-tip-reference" title="Shulman, S. A., Hyams, J. S., Gunta, R., Greenstein, R. M., Cassidy, S. B. <strong>Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members.</strong> Am. J. Med. Genet. 19: 325-332, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6439040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6439040</a>] [<a href="https://doi.org/10.1002/ajmg.1320190215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6439040">Shulman et al. (1984)</a> described a kindred with 5 affected persons in 3 generations. Severity varied widely. In 2 sisters, neonatal jaundice, peripheral pulmonic stenosis, and characteristic facies including broad forehead, deep-set eyes, prominent nose, and pointed chin were features. One died at age 5 years of cirrhosis with portal hypertension and the other at 18 months of congestive heart failure. Their asymptomatic mother and maternal aunt had similar facial appearance, pulmonic stenosis, skeletal anomalies, and bilateral posterior embryotoxon. The maternal grandfather, who refused evaluation, had a similar appearance, history of liver disease, and a heart murmur. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6439040" 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="#39" class="mim-tip-reference" title="Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M. E. M., Rand, E. B., Piccoli, D. A., Hood, L., Spinner, N. B. <strong>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.</strong> Nature Genet. 16: 243-251, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207788</a>] [<a href="https://doi.org/10.1038/ng0797-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207788">Li et al. (1997)</a> pictured clinical features of Alagille syndrome, including prominent forehead, pointed chin, posterior embryotoxon, and butterfly vertebra due to abnormal clefting of the vertebral bodies. Liver biopsy demonstrated multiple branches of the hepatic artery and portal vein in the portal tract without any accompanying bile ducts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9207788" 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>Based on 56 of their own observations, <a href="#35" class="mim-tip-reference" title="Krantz, I. D., Piccoli, D. A., Spinner, N. B. <strong>Alagille syndrome.</strong> J. Med. Genet. 34: 152-157, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039994</a>] [<a href="https://doi.org/10.1136/jmg.34.2.152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9039994">Krantz et al. (1997)</a> showed that all affected persons have hepatic, cardiac, and facial abnormalities. Vertebral defects were found in 59%, renal in 23%, and ocular in 83% of examined patients. Two persons in their group had pancreatic insufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039994" 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="#42" class="mim-tip-reference" title="Lykavieris, P., Hadchouel, M., Chardot, C., Bernard, O. <strong>Outcome of liver disease in children with Alagille syndrome: a study of 163 patients.</strong> Gut 49: 431-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511567</a>] [<a href="https://doi.org/10.1136/gut.49.3.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511567">Lykavieris et al. (2001)</a> reviewed the clinical outcome of 163 French patients with Alagille syndrome presenting in childhood. All patients had at least 3 of the 5 major clinical features. Overall, the prognosis was found to be worse in children presenting with neonatal cholestatic jaundice, although severe complications were possible even after late-onset liver disease. The authors argued for close lifelong follow-up. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Liver Involvement</em></strong></p><p>
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In the 3 cases studied by <a href="#5" class="mim-tip-reference" title="Berman, M. D., Ishak, K. G., Schaefer, E. J., Barnes, S., Jones, E. A. <strong>Syndromatic hepatic ductular hypoplasia (arteriohepatic dysplasia): a clinical and hepatic histologic study of three patients.</strong> Digest. Dis. Sci. 26: 485-497, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7238269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7238269</a>] [<a href="https://doi.org/10.1007/BF01308096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7238269">Berman et al. (1981)</a>, cholestasis was not progressive and, although the SGPT was chronically elevated (122-520 units per liter), features of liver cell failure did not develop. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7238269" 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="#56" class="mim-tip-reference" title="Riely, C. A., Cotlier, E., Jensen, P. S., Klatskin, G. <strong>Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement.</strong> Ann. Intern. Med. 91: 520-527, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/484950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">484950</a>] [<a href="https://doi.org/10.7326/0003-4819-91-4-520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="484950">Riely et al. (1979)</a> gave a useful differential diagnosis of familial intrahepatic cholestasis: Zellweger syndrome (see <a href="/entry/214100">214100</a>), cholestasis-lymphedema syndrome (<a href="/entry/214900">214900</a>), Byler disease (<a href="/entry/211600">211600</a>), and cholestasis with defective formation of cholic acid (<a href="/entry/214950">214950</a>). Alpha-1-antitrypsin deficiency (<a href="/entry/613490">613490</a>) may present as neonatal cholestasis with a paucity of intrahepatic bile ducts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=484950" 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 longitudinal study, <a href="#11" class="mim-tip-reference" title="Dahms, B. B., Petrelli, M., Wyllie, R., Henoch, M. S., Halpin, T. C., Morrison, S., Park, M. C., Tavill, A. S. <strong>Arteriohepatic dysplasia in infancy and childhood: a longitudinal study of six patients.</strong> Hepatology 2: 350-358, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7076119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7076119</a>] [<a href="https://doi.org/10.1002/hep.1840020311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7076119">Dahms et al. (1982)</a> sought to account for the pathologic hallmark of arteriohepatic dysplasia, namely, the paucity or absence of intrahepatic bile ducts. Liver biopsies under 6 months of age showed intrahepatic cholestasis and portal inflammation and in 2 of 5 cases giant cell transformation. None showed congenital absence of interlobular bile ducts; 3 of 5 had normal numbers of interlobular bile ducts, and 2 of 5 had paucity. Three of 5 showed focal destructive inflammation of interlobular bile ducts. All biopsies performed later (ages 3 to 20 years) showed the characteristic paucity or absence. By this time cholestasis and inflammation had largely resolved but some fibrosis persisted. An acquired bile duct deficiency, possibly due to destructive inflammation of duct epithelium, was suggested. This disorder should be considered in all infants with cholestasis. The histologic diagnosis may be difficult or impossible in infancy. The diagnosis in that age group must rest on the syndromatic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7076119" 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>Hepatocellular carcinoma has been reported in children with Alagille syndrome (<a href="#49" class="mim-tip-reference" title="Ong, E., Williams, S. M., Anderson, J. C., Kaplan, P. A. <strong>MR imaging of a hepatoma associated with Alagille syndrome.</strong> J. Comput. Assist. Tomogr. 10: 1047-1049, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3023458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3023458</a>] [<a href="https://doi.org/10.1097/00004728-198611000-00032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3023458">Ong et al., 1986</a>; <a href="#33" class="mim-tip-reference" title="Kaufman, S. S., Wood, R. P., Shaw, B. W., Jr., Markin, R. S., Gridelli, B., Vanderhoff, J. A. <strong>Hepatocarcinoma in a child with the Alagille syndrome.</strong> Am. J. Dis. Child. 141: 698-700, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3034054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3034054</a>] [<a href="https://doi.org/10.1001/archpedi.1987.04460060114050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3034054">Kaufman et al., 1987</a>; <a href="#52" class="mim-tip-reference" title="Rabinovitz, M., Imperial, J. C., Schade, R. R., Van Thiel, D. H. <strong>Hepatocellular carcinoma in Alagille's syndrome: a family study.</strong> J. Pediat. Gastroent. Nutr. 8: 26-30, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2543804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2543804</a>] [<a href="https://doi.org/10.1097/00005176-198901000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2543804">Rabinovitz et al., 1989</a>) and in an adult with Alagille syndrome without cirrhosis (<a href="#1" class="mim-tip-reference" title="Adams, P. C. <strong>Hepatocellular carcinoma associated with arteriohepatic dysplasia.</strong> Dig. Dis. Sci. 31: 438-442, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3007058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3007058</a>] [<a href="https://doi.org/10.1007/BF01311683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3007058">Adams, 1986</a>). <a href="#38" class="mim-tip-reference" title="Legius, E., Fryns, J.-P., Eyskens, B., Eggermont, E., Desmet, V., de Bethune, G., Van den Berghe, H. <strong>Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2).</strong> Am. J. Med. Genet. 35: 532-535, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333885</a>] [<a href="https://doi.org/10.1002/ajmg.1320350419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333885">Legius et al. (1990)</a> speculated that loss of heterozygosity for a cell cycle-regulating gene rather than underlying chronic liver disease may be the explanation of liver carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2333885+2543804+3007058+3023458+3034054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Craniofacial Involvement</em></strong></p><p>
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<a href="#66" class="mim-tip-reference" title="Sokol, R. J., Heubi, J. E., Balistreri, W. F. <strong>Intrahepatic 'cholestasis facies': is it specific for Alagille syndrome?</strong> J. Pediat. 103: 205-208, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6875709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6875709</a>] [<a href="https://doi.org/10.1016/s0022-3476(83)80345-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6875709">Sokol et al. (1983)</a> proposed that the facies seen in ALGS is nonspecific and secondary to congenital intrahepatic cholestasis from many causes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6875709" 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="#45" class="mim-tip-reference" title="Mueller, R. F., Pagon, R. A., Pepin, M. G., Haas, J. E., Kawabori, I., Stevenson, J. G., Stephan, M. J., Blumhagen, J. D., Christie, D. L. <strong>Arteriohepatic dysplasia: phenotypic features and family studies.</strong> Clin. Genet. 25: 323-331, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6424981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6424981</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01998.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6424981">Mueller et al. (1984)</a> reviewed phenotypic features of 56 reported cases of Alagille syndrome and 7 of their own. They emphasized a characteristic facies with prominent forehead and chin with deep-set eyes and eye changes, usually asymptomatic: anterior chamber anomalies, which may be associated with eccentric or ectopic pupils, and retinal changes of chorioretinal atrophy and pigment clumping. Also see review by <a href="#46" class="mim-tip-reference" title="Mueller, R. F. <strong>The Alagille syndrome (arteriohepatic dysplasia).</strong> J. Med. Genet. 24: 621-626, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3119852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3119852</a>] [<a href="https://doi.org/10.1136/jmg.24.10.621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3119852">Mueller (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3119852+6424981" 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="#35" class="mim-tip-reference" title="Krantz, I. D., Piccoli, D. A., Spinner, N. B. <strong>Alagille syndrome.</strong> J. Med. Genet. 34: 152-157, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039994</a>] [<a href="https://doi.org/10.1136/jmg.34.2.152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9039994">Krantz et al. (1997)</a> pictured the supposedly characteristic facies of 5 patients, including a mother and daughter and a father and daughter. Posterior embryotoxon in a father and daughter with ALGS was also pictured. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Kamath, B. M., Stolle, C., Bason, L., Colliton, R. P., Piccoli, D. A., Spinner, N. B., Krantz, I. D. <strong>Craniosynostosis in Alagille syndrome.</strong> Am. J. Med. Genet. 112: 176-180, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244552</a>] [<a href="https://doi.org/10.1002/ajmg.10608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244552">Kamath et al. (2002)</a> reported 2 patients with mutation-proven ALGS who also had unilateral coronal craniosynostosis. They found no mutations in genes known to be associated with craniosynostosis and suggested that the JAG1 gene plays a role in cranial suture formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Kamath, B. M., Bason, L., Piccoli, D. A., Krantz, I. D., Spinner, N. B. <strong>Consequences of JAG1 mutations.</strong> J. Med. Genet. 40: 891-895, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14684686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14684686</a>] [<a href="https://doi.org/10.1136/jmg.40.12.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14684686">Kamath et al. (2003)</a> studied 53 JAG1 mutation-positive relatives of 34 ALGS probands and found the characteristic facies to be the most highly penetrant feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14684686" 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="#26" class="mim-tip-reference" title="Kamath, B. M., Loomes, K. M., Oakey, R. J., Emerick, K. E. M., Conversano, T., Spinner, N. B., Piccoli, D. A., Krantz, I. D. <strong>Facial features in Alagille syndrome: specific or cholestasis facies?</strong> Am. J. Med. Genet. 112: 163-170, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244550</a>] [<a href="https://doi.org/10.1002/ajmg.10579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244550">Kamath et al. (2002)</a> reported that the 49 clinical dysmorphologists they asked to examine a photographic panel of 18 pediatric and adult individuals with ALGS and other forms of congenital intrahepatic cholestasis correctly identified the ALGS facies 79% of the time, suggesting that the facies is specific to ALGS. <a href="#67" class="mim-tip-reference" title="Sokol, R. J. <strong>Re: article by Kamath et al.--'Facial features in Alagille syndrome'.(Letter)</strong> Am. J. Med. Genet. 124A: 220-221, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14699626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14699626</a>] [<a href="https://doi.org/10.1002/ajmg.a.20333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14699626">Sokol (2004)</a> and <a href="#28" class="mim-tip-reference" title="Kamath, B. M., Loomes, K. M., Piccoli, D. A., Emerick, K. E. M., Oakey, R. J., Spinner, N. B., Krantz, I. D. <strong>Reply to correspondence from Sokol. (Letter)</strong> Am. J. Med. Genet. 124A: 222-223, 2004."None>Kamath et al. (2004)</a> exchanged letters regarding the evidence for and against a distinct facies in Alagille syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12244550+14699626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Skeletal Involvement</em></strong></p><p>
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<a href="#62" class="mim-tip-reference" title="Rosenfield, N. S., Kelley, M. J., Jensen, P. S., Cotlier, E., Rosenfield, A. T., Riely, C. A. <strong>Arteriohepatic dysplasia: radiologic features of a new syndrome.</strong> Am. J. Roentgen. 135: 1217-1223, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6779528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6779528</a>] [<a href="https://doi.org/10.2214/ajr.135.6.1217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6779528">Rosenfield et al. (1980)</a> described abnormalities in the shape and segmentation of vertebral bodies and short distal phalanges. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6779528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Ocular Involvement</em></strong></p><p>
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<a href="#55" class="mim-tip-reference" title="Raymond, W. R., Kearney, J. J., Parmley, V. C. <strong>Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).</strong> Arch. Ophthal. 107: 1077, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2751461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2751461</a>] [<a href="https://doi.org/10.1001/archopht.1989.01070020139047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2751461">Raymond et al. (1989)</a> described Axenfeld anomaly in a 24-year-old black man with other signs of Alagille syndrome: congenital intrahepatic biliary atresia, systolic ejection murmur, short stature, butterfly vertebra at T-10, and hand changes (short ulnae, short scaphoids, and short distal phalanges). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2751461" 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>From a study of 22 children with Alagille syndrome and 23 of their parents, <a href="#21" class="mim-tip-reference" title="Hingorani, M., Nischal, K. K., Davies, A., Bentley, C., Vivian, A., Baker, A. J., Mieli-Vergani, G., Bird, A. C., Aclimandos, W. A. <strong>Ocular abnormalities in Alagille syndrome.</strong> Ophthalmology 106: 330-337, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9951486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9951486</a>] [<a href="https://doi.org/10.1016/S0161-6420(99)90072-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9951486">Hingorani et al. (1999)</a> concluded that Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examination of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of Alagille syndrome, eliminating the need for extensive and invasive investigations. The most common ocular abnormalities in patients were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not significantly affected by these ocular changes. Ocular abnormalities, including posterior embryotoxon, iris abnormalities, and optic disc or fundus pigmentary changes, were detected in 1 parent in 36% of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9951486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Kidney Involvement</em></strong></p><p>
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<a href="#36" class="mim-tip-reference" title="LaBrecque, D. R., Mitros, F. A., Nathan, R. J., Romanchuk, K. G., Judisch, G. F., El-Khoury, G. H. <strong>Four generations of arteriohepatic dysplasia.</strong> Hepatology 2: 467-474, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7095746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7095746</a>] [<a href="https://doi.org/10.1002/hep.1840020413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7095746">LaBrecque et al. (1982)</a> described 15 affected persons in 4 generations. They demonstrated renal dysplasia, renal artery stenosis, and hypertension in some. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7095746" 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="#43" class="mim-tip-reference" title="Martin, S. R., Garel, L., Alvarez, F. <strong>Alagille's syndrome associated with cystic renal disease.</strong> Arch. Dis. Child. 74: 232-235, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8787429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8787429</a>] [<a href="https://doi.org/10.1136/adc.74.3.232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8787429">Martin et al. (1996)</a> described 3 children with Alagille syndrome, in 2 of whom a unilateral multicystic dysplastic kidney was detected by prenatal ultrasound; in the other, a solitary cortical cyst was found later in childhood. All had normal renal function, growth, and liver synthetic function but continued to have clinical and biochemical signs of cholestasis. Thus the authors concluded that Alagille syndrome should be included in the differential diagnosis of cystic kidney disorders associated with cholestatic liver disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8787429" 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 retrospective study involving 187 patients with Alagille syndrome due to JAG1 mutations who had evaluable renal information, <a href="#29" class="mim-tip-reference" title="Kamath, B. M., Podkameni, G., Hutchinson, A. L., Leonard, L. D., Gerfen, J., Krantz, I. D., Piccoli, D. A., Spinner, N. B., Loomes, K. M., Meyers, K. <strong>Renal anomalies in Alagille syndrome: a disease-defining feature.</strong> Am. J. Med. Genet. 158A: 85-89, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22105858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22105858</a>] [<a href="https://doi.org/10.1002/ajmg.a.34369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22105858">Kamath et al. (2012)</a> found that 73 (39%) had a renal anomaly or disease. Most (58.9%) had renal dysplasia, followed by renal tubular acidosis (9.5%), vesicoureteral reflux (8.2%), urinary obstruction (8.2%), and chronic renal failure (5.4%). Renal dysplasia was defined by increased echogenicity of the kidneys, reflecting increased fibrous tissue. Many of the patients had impaired glomerular filtration rates (GFR). There were no genotype/phenotype correlations. <a href="#29" class="mim-tip-reference" title="Kamath, B. M., Podkameni, G., Hutchinson, A. L., Leonard, L. D., Gerfen, J., Krantz, I. D., Piccoli, D. A., Spinner, N. B., Loomes, K. M., Meyers, K. <strong>Renal anomalies in Alagille syndrome: a disease-defining feature.</strong> Am. J. Med. Genet. 158A: 85-89, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22105858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22105858</a>] [<a href="https://doi.org/10.1002/ajmg.a.34369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22105858">Kamath et al. (2012)</a> cited evidence indicating that the Notch signaling pathway is involved in kidney development, and suggested that renal involvement may be considered a disease-defining feature of Alagille syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22105858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cardiovascular Involvement</em></strong></p><p>
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<a href="#44" class="mim-tip-reference" title="Mueller, R. F., Pagon, R. A., Haas, J. E., Stephan, M. J. <strong>Arteriohepatic dysplasia: potentially lethal disorder of intrahepatic cholestasis and/or congenital heart disease. (Abstract)</strong> Am. J. Hum. Genet. 33: 87A, 1981."None>Mueller et al. (1981)</a> studied 7 patients in 5 families and reviewed 62 reported cases. Of the 69 cases, death from cardiovascular or hepatic complications occurred by age 5 years in 16.</p><p><a href="#72" class="mim-tip-reference" title="Woolfenden, A. R., Albers, G. W., Steinberg, G. K., Hahn, J. S., Johnston, D. C. C., Farrell, K. <strong>Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy.</strong> Pediatrics 103: 505-508, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9925853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9925853</a>] [<a href="https://doi.org/10.1542/peds.103.2.505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9925853">Woolfenden et al. (1999)</a> described 2 children with sporadic Alagille syndrome associated with moyamoya (<a href="/entry/252350">252350</a>). They interpreted this finding as indicating that Alagille syndrome is a vasculopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9925853" 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="#51" class="mim-tip-reference" title="Raas-Rothschild, A., Shteyer, E., Lerer, I., Nir, A., Granot, E., Rein, A. J. J. T. <strong>Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.</strong> Am. J. Med. Genet. 112: 75-78, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12239725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12239725</a>] [<a href="https://doi.org/10.1002/ajmg.10652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12239725">Raas-Rothschild et al. (2002)</a> found descriptions of abdominal coarctation of the aorta in 3 reported cases of ALGS. They described a fourth case in which, in addition to abdominal coarctation, there was right subclavian stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12239725" 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="#41" class="mim-tip-reference" title="Lykavieris, P., Crosnier, C., Trichet, C., Meunier-Rotival, M., Hadchouel, M. <strong>Bleeding tendency in children with Alagille syndrome.</strong> Pediatrics 111: 167-170, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509572</a>] [<a href="https://doi.org/10.1542/peds.111.1.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509572">Lykavieris et al. (2003)</a> reviewed the records of 174 patients with Alagille syndrome without liver failure and found that 22% had spontaneous or postprocedure bleeding in various organs. The authors suggested that patients with ALGS are at special risk for bleeding. Although they could not exclude a role for hypercholesterolemia, they speculated that abnormalities in the JAGGED1 signaling pathway may impair hemostatic function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509572" 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 retrospective chart review of 268 individuals with ALGS, <a href="#30" class="mim-tip-reference" title="Kamath, B. M., Spinner, N. B., Emerick, K. M., Chudley, A. E., Booth, C., Piccoli, D. A., Krantz, I. D. <strong>Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.</strong> Circulation 109: 1354-1358, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14993126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14993126</a>] [<a href="https://doi.org/10.1161/01.CIR.0000121361.01862.A4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14993126">Kamath et al. (2004)</a> found that 25 (9%) had noncardiac vascular anomalies or events, and that vascular accidents accounted for 34% of mortality in this cohort. The documented vascular anomalies included basilar and middle cerebral artery aneurysms, internal carotid artery anomalies, aortic aneurysms, and coarctation of the aorta; 1 patient had moyamoya disease. <a href="#30" class="mim-tip-reference" title="Kamath, B. M., Spinner, N. B., Emerick, K. M., Chudley, A. E., Booth, C., Piccoli, D. A., Krantz, I. D. <strong>Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.</strong> Circulation 109: 1354-1358, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14993126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14993126</a>] [<a href="https://doi.org/10.1161/01.CIR.0000121361.01862.A4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14993126">Kamath et al. (2004)</a> concluded that vascular anomalies are a major cause of morbidity and mortality in patients with ALGS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14993126" 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="#59" class="mim-tip-reference" title="Rocha, R., Soro, I., Leitao, A., Silva, M. L., Leao, M. <strong>Moyamoya vascular pattern in Alagille syndrome.</strong> Pediat. Neurol. 47: 125-128, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22759690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22759690</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22759690">Rocha et al. (2012)</a> reported a 10-year-old Caucasian girl with Alagille syndrome, confirmed by the finding of a truncating mutation in the JAG1 gene, who was found to have moyamoya syndrome on cerebral magnetic resonance angiography. The patient had no neurologic deficits. Features of Alagille syndrome included posterior embryotoxon, eccentric pupils, peripheral pulmonary stenosis, and facial dysmorphism. Bilirubin was normal, but cholesterol was elevated. <a href="#59" class="mim-tip-reference" title="Rocha, R., Soro, I., Leitao, A., Silva, M. L., Leao, M. <strong>Moyamoya vascular pattern in Alagille syndrome.</strong> Pediat. Neurol. 47: 125-128, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22759690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22759690</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22759690">Rocha et al. (2012)</a> reviewed the several cases of moyamoya syndrome previously reported in Alagille syndrome, noting that it can be a feature of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22759690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Other Features</em></strong></p><p>
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In a 36-day-old male with typical features of Alagille syndrome, <a href="#60" class="mim-tip-reference" title="Rodriguez, J. I., Rivera, T., Palacios, J. <strong>Alagille syndrome associated with caudal dysplasia sequence.</strong> Am. J. Med. Genet. 40: 61-64, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1887851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1887851</a>] [<a href="https://doi.org/10.1002/ajmg.1320400112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1887851">Rodriguez et al. (1991)</a> found associated caudal dysplasia sequence: imperforate anus, rectourethral fistula, lumbosacral abnormalities, and dysplastic right kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1887851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Bucuvalas, J. C., Horn, J. A., Carlsson, L., Balistreri, W. F., Chernausek, S. D. <strong>Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature.</strong> J. Clin. Endocr. Metab. 76: 1477-1482, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8501153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8501153</a>] [<a href="https://doi.org/10.1210/jcem.76.6.8501153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8501153">Bucuvalas et al. (1993)</a> concluded that growth-retarded children with Alagille syndrome are insensitive to growth hormone (GH; <a href="/entry/139250">139250</a>). They thought that the growth disturbance and metabolic defects may be due in part to failure to increase IGF1 (<a href="/entry/147440">147440</a>) concentrations in response to GH, implying that such patients may benefit from IGF1 treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8501153" 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 19-year-old woman with Alagille syndrome diagnosed at the age of 8 years, <a href="#32" class="mim-tip-reference" title="Kato, Z., Asano, J., Kato, T., Yamaguchi, S., Kondo, N., Orii, T. <strong>Thyroid cancer in a case with the Alagille syndrome.</strong> Clin. Genet. 45: 21-24, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8149647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8149647</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1994.tb03984.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8149647">Kato et al. (1994)</a> described papillary thyroid carcinoma (see <a href="/entry/188550">188550</a>) with multiple lung metastases. They reviewed 12 reported cases of hepatocellular carcinoma. Development of carcinoma was as early as age 2 years and as late as 48 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8149647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Ho, N. C., Lacbawan, F., Francomano, C. A., Ho, V. <strong>Severe hypodontia and oral xanthomas in Alagille syndrome. (Letter)</strong> Am. J. Med. Genet. 93: 250-252, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10925392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10925392</a>] [<a href="https://doi.org/10.1002/1096-8628(20000731)93:3<250::aid-ajmg18>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10925392">Ho et al. (2000)</a> described a 3-year-old Asian boy with Alagille syndrome who had severe generalized xanthomas, including oral xanthomas, and marked hypodontia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10925392" 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="#27" class="mim-tip-reference" title="Kamath, B. M., Loomes, K. M., Oakey, R. J., Krantz, I. D. <strong>Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.</strong> Am. J. Med. Genet. 112: 171-175, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244551</a>] [<a href="https://doi.org/10.1002/ajmg.10628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244551">Kamath et al. (2002)</a> reported the presence of supernumerary digital flexion creases, a finding reported in less than 1% of the general population, in 16 of 46 (35%) ALGS probands examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244551" 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>Diagnosis in a proband is made if bile duct paucity is accompanied by 3 of the main 5 clinical criteria (<a href="#2" class="mim-tip-reference" title="Alagille, D., Estrada, A., Hadchouel, M., Gautier, M., Odihvre, M., Dommergues, J. P. <strong>Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.</strong> J. Pediat. 110: 195-200, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3806290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3806290</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80153-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3806290">Alagille et al., 1987</a>). It has been suggested that family members should be considered affected if they express any of the 5 main clinical features (variable expressivity) (<a href="#71" class="mim-tip-reference" title="Watson, G. H., Miller, V. <strong>Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.</strong> Arch. Dis. Child. 48: 459-466, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4712776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4712776</a>] [<a href="https://doi.org/10.1136/adc.48.6.459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4712776">Watson and Miller, 1973</a>; <a href="#16" class="mim-tip-reference" title="Dhorne-Pollet, S., Deleuze, J.-F., Hadchouel, M., Bonaiti-Pellie, C. <strong>Segregation analysis of Alagille syndrome.</strong> J. Med. Genet. 31: 453-457, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071971</a>] [<a href="https://doi.org/10.1136/jmg.31.6.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071971">Dhorne-Pollet et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3806290+4712776+8071971" 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>Gonioscopy with demonstration of embryotoxon is a valuable way to make the diagnosis in mildly affected persons (<a href="#61" class="mim-tip-reference" title="Romanchuk, K. G., Judisch, G. F., LaBrecque, D. R. <strong>Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).</strong> Canad. J. Ophthal. 16: 94-99, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796244</a>]" pmid="6796244">Romanchuk et al., 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6796244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of the Alagille syndrome, <a href="#70" class="mim-tip-reference" title="Turnpenny, P. D., Ellard, S. <strong>Alagille syndrome: pathogenesis, diagnosis and management.</strong> Europ. J. Hum. Genet. 20: 251-257, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21934706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21934706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21934706[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/10.1038/ejhg.2011.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21934706">Turnpenny and Ellard (2012)</a> noted that the diagnosis can be difficult in some patients who do not show unequivocal classic features of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21934706" 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="#12" class="mim-tip-reference" title="Danks, D. M., Campbell, P. E., Jack, I., Rogers, J., Smith, A. L. <strong>Studies of the aetiology of neonatal hepatitis and biliary atresia.</strong> Arch. Dis. Child. 52: 360-367, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/559475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">559475</a>] [<a href="https://doi.org/10.1136/adc.52.5.360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="559475">Danks et al. (1977)</a> gave an estimated minimum population frequency of 1 in 70,000 births, when ascertained by the presence of neonatal jaundice. <a href="#39" class="mim-tip-reference" title="Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M. E. M., Rand, E. B., Piccoli, D. A., Hood, L., Spinner, N. B. <strong>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.</strong> Nature Genet. 16: 243-251, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207788</a>] [<a href="https://doi.org/10.1038/ng0797-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207788">Li et al. (1997)</a> considered the true incidence most likely higher. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=559475+9207788" 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>Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance with incomplete penetrance (summary by <a href="#70" class="mim-tip-reference" title="Turnpenny, P. D., Ellard, S. <strong>Alagille syndrome: pathogenesis, diagnosis and management.</strong> Europ. J. Hum. Genet. 20: 251-257, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21934706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21934706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21934706[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/10.1038/ejhg.2011.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21934706">Turnpenny and Ellard, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21934706" 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="Henriksen, N. T., Langmark, F., Sorland, S. J., Fausa, O., Landaas, A., Aagenaes, O. <strong>Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies.</strong> Acta Paediat. Scand. 66: 7-15, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/831382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">831382</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1977.tb07801.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="831382">Henriksen et al. (1977)</a> reported affected father and daughter, <a href="#56" class="mim-tip-reference" title="Riely, C. A., Cotlier, E., Jensen, P. S., Klatskin, G. <strong>Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement.</strong> Ann. Intern. Med. 91: 520-527, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/484950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">484950</a>] [<a href="https://doi.org/10.7326/0003-4819-91-4-520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="484950">Riely et al. (1979)</a> and <a href="#62" class="mim-tip-reference" title="Rosenfield, N. S., Kelley, M. J., Jensen, P. S., Cotlier, E., Rosenfield, A. T., Riely, C. A. <strong>Arteriohepatic dysplasia: radiologic features of a new syndrome.</strong> Am. J. Roentgen. 135: 1217-1223, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6779528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6779528</a>] [<a href="https://doi.org/10.2214/ajr.135.6.1217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6779528">Rosenfield et al. (1980)</a> reported father and son, and <a href="#37" class="mim-tip-reference" title="LaBrecque, D. R., Mitros, F. A. <strong>Autosomal dominant transmission of arteriohepatic dysplasia to four generations of a single kindred. (Abstract)</strong> Clin. Res. 30: 285A, 1982."None>LaBrecque and Mitros (1982)</a> described the condition in 4 generations of 1 kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=831382+6779528+484950" 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>Although autosomal dominant inheritance with reduced penetrance had been suggested by the analysis of a limited number of families, no statistical analysis had been performed prior to that done by <a href="#16" class="mim-tip-reference" title="Dhorne-Pollet, S., Deleuze, J.-F., Hadchouel, M., Bonaiti-Pellie, C. <strong>Segregation analysis of Alagille syndrome.</strong> J. Med. Genet. 31: 453-457, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071971</a>] [<a href="https://doi.org/10.1136/jmg.31.6.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071971">Dhorne-Pollet et al. (1994)</a>. They analyzed 33 families collected through 43 probands. They corroborated the autosomal dominant inheritance and concluded that penetrance is 94% and that 15% of cases are sporadic. Expressivity was variable; 26 persons (15 persons and 11 sibs) were identified as presenting minor forms of the disease. Because the individual manifestations are rare in the general population, <a href="#16" class="mim-tip-reference" title="Dhorne-Pollet, S., Deleuze, J.-F., Hadchouel, M., Bonaiti-Pellie, C. <strong>Segregation analysis of Alagille syndrome.</strong> J. Med. Genet. 31: 453-457, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071971</a>] [<a href="https://doi.org/10.1136/jmg.31.6.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071971">Dhorne-Pollet et al. (1994)</a> assumed that the presence of only 1 feature (the facies being excluded) was sufficient for considering a family member to be affected with Alagille syndrome. The frequency of butterfly-like vertebrae is unknown but must be rare. Embryotoxon is the symptom of Alagille syndrome most frequent in the general population, affecting 8 to 10%. Among the 33 families, mothers were affected in 12 families and fathers were affected in only 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071971" 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>To determine the rate of new mutations and to develop criteria for detecting the disorder in parents, <a href="#18" class="mim-tip-reference" title="Elmslie, F. V., Vivian, A. J., Gardiner, H., Hall, C., Mowat, A. P., Winter, R. M. <strong>Alagille syndrome: family studies.</strong> J. Med. Genet. 32: 264-268, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7643353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7643353</a>] [<a href="https://doi.org/10.1136/jmg.32.4.264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7643353">Elmslie et al. (1995)</a> systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmologic assessment, and chromosome analysis. Six parents had typical anomalies in 2 or more systems, pointing to the presence of autosomal dominant inheritance. In 3 cases, the father was the affected parent, and in 3 the mother was affected. In only one case had the affected parent previously suspected that he was affected. All affected parents had posterior embryotoxon and at least one other major syndromic feature. Five had abnormalities of the spine and eye. In 3, midline notches on the vertebral endplates were present, representing fused butterfly vertebrae. Four also had a short ulna. Two had anomalous optic discs and a pigmentary retinopathy. The mother in one family and the father in a second had a history of unexplained jaundice in infancy and recovered spontaneously. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7643353" 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 study of 53 JAG1 mutation-positive relatives of 34 ALGS probands, <a href="#24" class="mim-tip-reference" title="Kamath, B. M., Bason, L., Piccoli, D. A., Krantz, I. D., Spinner, N. B. <strong>Consequences of JAG1 mutations.</strong> J. Med. Genet. 40: 891-895, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14684686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14684686</a>] [<a href="https://doi.org/10.1136/jmg.40.12.891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14684686">Kamath et al. (2003)</a> found that 25 of the relatives (including 2 with no features of ALGS) did not meet the accepted clinical criteria. Seventeen had mild features found only after targeted evaluation; and 11 were readily diagnosed with ALGS. The frequency of cardiac and liver disease was notably lower in relatives than in probands, characterizing the milder end of the phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14684686" 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="#10" class="mim-tip-reference" title="Byrne, J. L. B., Harrod, M. J. E., Friedman, J. M., Howard-Peebles, P. N. <strong>del(20p) with manifestations of arteriohepatic dysplasia.</strong> Am. J. Med. Genet. 24: 673-678, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3740100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3740100</a>] [<a href="https://doi.org/10.1002/ajmg.1320240411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3740100">Byrne et al. (1986)</a> described arteriohepatic dysplasia in a small-for-gestational age white female infant who had deletion of 20p11.2. The child had multiple minor anomalies and severe jejunal stenosis similar to the findings in 2 previously reported instances of 20p11.2 deletions. In addition, mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed. The possibility of a gene for arteriohepatic dysplasia at this site on chromosome 20 was raised by the authors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3740100" 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="#47" class="mim-tip-reference" title="Mujica, P., Morali, A., Vidailhet, M., Pierson, M., Gilgenkrantz, S. <strong>A case of Alagille's syndrome with translocation (4;14)(q21;q21).</strong> Ann. Genet. 32: 117-119, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757361</a>]" pmid="2757361">Mujica et al. (1989)</a> described Alagille syndrome in association with an apparently balanced translocation t(4;14)(q21;q21). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2757361" 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="#64" class="mim-tip-reference" title="Schnittger, S., Hofers, C., Heidemann, P., Beermann, F., Hansmann, I. <strong>Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).</strong> Hum. Genet. 83: 239-244, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2793167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2793167</a>] [<a href="https://doi.org/10.1007/BF00285164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2793167">Schnittger et al. (1989)</a> found an interstitial deletion of chromosome 20 in a 20-year-old female with typical signs. Considering the clinical similarity of 9 further cases with a 20p deletion reported in the literature, <a href="#64" class="mim-tip-reference" title="Schnittger, S., Hofers, C., Heidemann, P., Beermann, F., Hansmann, I. <strong>Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).</strong> Hum. Genet. 83: 239-244, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2793167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2793167</a>] [<a href="https://doi.org/10.1007/BF00285164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2793167">Schnittger et al. (1989)</a> proposed that AWS is a 'contiguous gene syndrome' provisionally located in the area 20p12.1-p11.23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2793167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 8-year-old boy with arteriohepatic dysplasia, <a href="#74" class="mim-tip-reference" title="Zhang, F., Deleuze, J. F., Aurias, A., Dutrillaux, A.-M., Hugon, R.-N., Alagille, D., Thomas, G., Hadchouel, M. <strong>Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome).</strong> J. Pediat. 116: 73-77, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1967307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1967307</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)81648-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1967307">Zhang et al. (1990)</a> demonstrated deletion of 20p12.3-p11.23. <a href="#38" class="mim-tip-reference" title="Legius, E., Fryns, J.-P., Eyskens, B., Eggermont, E., Desmet, V., de Bethune, G., Van den Berghe, H. <strong>Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2).</strong> Am. J. Med. Genet. 35: 532-535, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333885</a>] [<a href="https://doi.org/10.1002/ajmg.1320350419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333885">Legius et al. (1990)</a> found deletion of 20p11.2 in a patient with this syndrome. They emphasized the peculiar face with parietal bossing and small upturned nose. <a href="#4" class="mim-tip-reference" title="Anad, F., Burn, J., Matthews, D., Cross, I., Davison, B. C. C., Mueller, R., Sands, M., Lillington, D. M., Eastham, E. <strong>Alagille syndrome and deletion of 20p.</strong> J. Med. Genet. 27: 729-737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2074558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2074558</a>] [<a href="https://doi.org/10.1136/jmg.27.12.729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2074558">Anad et al. (1990)</a> added 5 cases of 20p deletion to the 10 already known. Four had the features of Alagille syndrome. Furthermore, they observed interstitial deletion of 20p in a mother and son, both of whom had features of Alagille syndrome. <a href="#69" class="mim-tip-reference" title="Teebi, A. S., Murthy, D. S., Ismail, E. A. R., Redha, A. A. <strong>Alagille syndrome with de novo del(20)(p11.2).</strong> Am. J. Med. Genet. 42: 35-38, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308363</a>] [<a href="https://doi.org/10.1002/ajmg.1320420109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1308363">Teebi et al. (1992)</a> described an Arab boy with this syndrome associated with a de novo deletion of chromosome 20: 46,XY,del(20)(p11.2). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1308363+1967307+2074558+2333885" 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>By high resolution banding techniques, nonradioactive in situ hybridization, and molecular studies for allelic losses, <a href="#15" class="mim-tip-reference" title="Desmaze, C., Deleuze, J. F., Dutrillaux, A. M., Thomas, G., Hadchouel, M., Aurias, A. <strong>Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.</strong> J. Med. Genet. 29: 233-235, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583641</a>] [<a href="https://doi.org/10.1136/jmg.29.4.233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583641">Desmaze et al. (1992)</a> found no evidence of microdeletion of chromosome 20 in 14 patients with Alagille syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1583641" 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>Studying a case of ALGS with microdeletion in the short arm of chromosome 20 encompassing bands p12.3 to p11.23, <a href="#13" class="mim-tip-reference" title="Deleuze, J. F., Dhorne, S., Hazan, J., Borghi, E., Raynaud, N., Pollet, N., Meunier-Rotival, M., Deschatrette, J., Alagille, D., Hadchouel, M. <strong>Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.</strong> Mammalian Genome 5: 663-669, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7873876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7873876</a>] [<a href="https://doi.org/10.1007/BF00426072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7873876">Deleuze et al. (1994)</a> showed that 3 genes were outside the deletion and thus excluded as candidate genes: paired box-1 (PAX1; <a href="/entry/167411">167411</a>), cystatin C (CST3; <a href="/entry/604312">604312</a>), and hepatic nuclear factor-3-beta (HNF3B; <a href="/entry/600288">600288</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7873876" 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="#68" class="mim-tip-reference" title="Spinner, N. B., Rand, E. B., Fortina, P., Genin, A., Taub, R., Semeraro, A., Piccoli, D. A. <strong>Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies.</strong> Am. J. Hum. Genet. 55: 238-243, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8037203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8037203</a>]" pmid="8037203">Spinner et al. (1994)</a> described a cytologically balanced t(2;20) in a 2-generation family with Alagille syndrome. The family was identified through a proband with all 5 of the clinical criteria for diagnosis of the disorder; clinical assessment of the family identified 2 other affected individuals, who had less severe disease. Cosegregation of the translocation with the clinical disorder indicated that the cytogenetic rearrangement involved the ALGS locus. <a href="#68" class="mim-tip-reference" title="Spinner, N. B., Rand, E. B., Fortina, P., Genin, A., Taub, R., Semeraro, A., Piccoli, D. A. <strong>Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies.</strong> Am. J. Hum. Genet. 55: 238-243, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8037203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8037203</a>]" pmid="8037203">Spinner et al. (1994)</a> constructed hybrids from the patients' cell lines and by studying these were able to localize the translocation breakpoint distal to D20S61 and D20S56 within band 20p12. Characteristic facies in the 15-year-old proband and her subclinically affected father was illustrated, showing prominent forehead, triangular facies, deep-set eyes, and a small, anteriorly pointed chin. The proband's sister had hepatomegaly without jaundice and a systolic murmur in infancy and had the same facial features. Failure to thrive was present at 6 months of age. Biochemical evaluation at 2 years of age demonstrated mildly elevated transaminases and a moderately elevated alkaline phosphatase. Eye examination demonstrated posterior embryotoxon. The father demonstrated biochemical liver abnormalities, including elevated transaminases and hypercholesterolemia, but no clinically evident liver disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8037203" 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>By mapping with microsatellite markers in the Alagille region, <a href="#14" class="mim-tip-reference" title="Deleuze, J.-F., Hazan, J., Dhorne, S., Weissenbach, J., Hadchouel, M. <strong>Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients.</strong> Europ. J. Hum. Genet. 2: 185-190, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7834278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7834278</a>] [<a href="https://doi.org/10.1159/000472362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7834278">Deleuze et al. (1994)</a> and <a href="#53" class="mim-tip-reference" title="Rand, E. B., Spinner, N. B., Piccoli, D. A., Whitington, P. F., Taub, R. <strong>Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.</strong> Am. J. Hum. Genet. 57: 1068-1073, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7485156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7485156</a>]" pmid="7485156">Rand et al. (1995)</a> concluded that submicroscopic deletions are rarely the basis of Alagille syndrome in cytogenetically normal patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7834278+7485156" 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="#40" class="mim-tip-reference" title="Li, P.-H., Shu, S.-G., Yang, C.-H., Lo, F.-C., Wen, M.-C., Chi, C.-S. <strong>Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).</strong> Am. J. Med. Genet. 63: 537-541, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826431</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960628)63:4<537::AID-AJMG5>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826431">Li et al. (1996)</a> described a 6-year-old boy with Alagille syndrome and hypoplastic corpus callosum. This patient had interstitial deletion of the 20p12.2-p11.23 (or 20p13-p12.2) segment due to segregation of maternal ins(7;20)(q11.23;p11.23p12.2 or p12.2p13). His elder brother, who died of liver failure and tetralogy of Fallot, had not been studied cytogenetically. Because the maternal phenotype was normal, <a href="#40" class="mim-tip-reference" title="Li, P.-H., Shu, S.-G., Yang, C.-H., Lo, F.-C., Wen, M.-C., Chi, C.-S. <strong>Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).</strong> Am. J. Med. Genet. 63: 537-541, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826431</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960628)63:4<537::AID-AJMG5>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826431">Li et al. (1996)</a> concluded that the gene for Alagille syndrome would be located within the deletion extent rather than at the insertion breakpoints. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8826431" 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="#35" class="mim-tip-reference" title="Krantz, I. D., Piccoli, D. A., Spinner, N. B. <strong>Alagille syndrome.</strong> J. Med. Genet. 34: 152-157, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039994</a>] [<a href="https://doi.org/10.1136/jmg.34.2.152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9039994">Krantz et al. (1997)</a> reported only 2 visible rearrangements (1 apparently balanced translocation and 1 deletion) in a group of 56 persons, and only 1 more patient was found to have submicroscopic deletion within 20p12. A low incidence of deletions argued for a single gene etiology of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039994" 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="#39" class="mim-tip-reference" title="Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M. E. M., Rand, E. B., Piccoli, D. A., Hood, L., Spinner, N. B. <strong>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.</strong> Nature Genet. 16: 243-251, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207788</a>] [<a href="https://doi.org/10.1038/ng0797-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207788">Li et al. (1997)</a> estimated that less than 7% of patients with Alagille syndrome have deletions of 20p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9207788" 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="#23" class="mim-tip-reference" title="Hol, F. A., Hamel, B. C. J., Geurds, M. P. A., Hansmann, I., Nabben, F. A. E., Daniels, O., Mariman, E. C. M. <strong>Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.</strong> Hum. Genet. 95: 687-690, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789956</a>] [<a href="https://doi.org/10.1007/BF00209488" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7789956">Hol et al. (1995)</a> performed linkage analysis in a 3-generation family with ALGS in which the affected members had a normal karyotype. A lod score of 2.96 was obtained with D20S27 at no recombination. Combining D20S27 and D20S61 to a single highly informative locus resulted in a maximum lod score of 3.56 at theta = 0.0. Haplotype analysis positioned ALGS between D20S59 and D20S65, markers that define an interval of about 40 cM. Allelic loss was not observed for the tested markers and no abnormalities were detected in the PAX1 gene (<a href="/entry/167411">167411</a>), which because of its location at 20p11.2 was considered a candidate gene for ALGS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7789956" 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="#50" class="mim-tip-reference" title="Pollet, N., Dhorne-Pollet, S., Deleuze, J.-F., Boccaccio, C., Driancourt, C., Raynaud, N., Le Paslier, D., Hadchouel, M., Meunier-Rotival, M. <strong>Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.</strong> Genomics 27: 467-474, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558028</a>] [<a href="https://doi.org/10.1006/geno.1995.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558028">Pollet et al. (1995)</a> established a YAC contig that spans the ALGS region that should be valuable for cloning candidate genes and searching for DNA polymorphisms segregating with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558028" 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="#48" class="mim-tip-reference" title="Oda, T., Elkahloun, A. G., Pike, B. L., Okajima, K., Krantz, I. D., Genin, A., Piccoli, D. A., Meltzer, P. S., Spinner, N. B., Collins, F. S., Chandrasekharappa, S. C. <strong>Mutations in the human Jagged1 gene are responsible for Alagille syndrome.</strong> Nature Genet. 16: 235-242, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207787</a>] [<a href="https://doi.org/10.1038/ng0797-235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207787">Oda et al. (1997)</a> and <a href="#39" class="mim-tip-reference" title="Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M. E. M., Rand, E. B., Piccoli, D. A., Hood, L., Spinner, N. B. <strong>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.</strong> Nature Genet. 16: 243-251, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207788</a>] [<a href="https://doi.org/10.1038/ng0797-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207788">Li et al. (1997)</a> demonstrated that Alagille syndrome is caused by mutations in the human homolog of Jagged-1 (JAG1; <a href="/entry/601920">601920</a>), which encodes a ligand for NOTCH1 (<a href="/entry/190198">190198</a>). <a href="#48" class="mim-tip-reference" title="Oda, T., Elkahloun, A. G., Pike, B. L., Okajima, K., Krantz, I. D., Genin, A., Piccoli, D. A., Meltzer, P. S., Spinner, N. B., Collins, F. S., Chandrasekharappa, S. C. <strong>Mutations in the human Jagged1 gene are responsible for Alagille syndrome.</strong> Nature Genet. 16: 235-242, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207787</a>] [<a href="https://doi.org/10.1038/ng0797-235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207787">Oda et al. (1997)</a> generated a cloned contig of the critical region revealed by cytogenetic deletions and used fluorescence in situ hybridization on cells from patients with submicroscopic deletions to narrow the candidate region to only 250 kb. Within this region they identified JAG1, the human homolog of rat Jagged-1, which encodes a ligand for the NOTCH1 receptor. Cell-cell Jagged/Notch interactions are critical for determination of cell fates in early development, making this an attractive candidate gene for a developmental disorder in humans. Determining the complete exon/intron structure of JAG1 allowed them to perform detailed mutation analysis of DNA samples from nondeletion ALGS patients, revealing 3 frameshift mutations, 2 splice donor site mutations, and 1 mutation abolishing RNA expression from the altered allele. They concluded that ALGS is caused by haploinsufficiency of JAG1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9207788+9207787" 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="#39" class="mim-tip-reference" title="Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., Costa, T., Pierpont, M. E. M., Rand, E. B., Piccoli, D. A., Hood, L., Spinner, N. B. <strong>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.</strong> Nature Genet. 16: 243-251, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207788</a>] [<a href="https://doi.org/10.1038/ng0797-243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9207788">Li et al. (1997)</a> mapped the human JAG1 gene to the Alagille syndrome critical region within 20p12, and demonstrated 4 distinct coding mutations in JAG1 in 4 Alagille syndrome families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9207788" 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="#73" class="mim-tip-reference" title="Yuan, Z.-R., Kohsaka, T., Ikegaya, T., Suzuki, T., Okano, S., Abe, J., Kobayashi, N., Yamada, M. <strong>Mutational analysis of the Jagged 1 gene in Alagille syndrome families.</strong> Hum. Molec. Genet. 7: 1363-1369, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700188</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700188">Yuan et al. (1998)</a> analyzed the JAG1 gene in 8 Alagille syndrome families. Four categories of mutations were identified: (1) 4 frameshift mutations in exons 9, 22, 24, and 26 were exhibited respectively in affected individuals in 4 ALGS families, which resulted in moving the translational frame of JAG1; (2) 1 nonsense mutation, a 1-bp substitution in exon 5 of the EGF-like repeat domain, was detected in 2 unrelated ALGS families, which altered codon 235 from arginine to stop; (3) 1 acceptor splice site mutation in exon 5 was found in a sporadic patient; and (4) a 1.3-Mb deletion, which included the entire JAG1 gene, was found in another patient. All of the mutations were present in heterozygous form, supporting the dominant inheritance of Alagille syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700188" 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="#19" class="mim-tip-reference" title="Giannakudis, J., Ropke, A., Kujat, A., Krajewska-Walasek, M., Hughes, H., Fryns, J.-P., Bankier, A., Amor, D., Schlicker, M., Hansmann, I. <strong>Parental mosaicism of JAG1 mutations in families with Alagille syndrome.</strong> Europ. J. Hum. Genet. 9: 209-216, 2001. Note: Erratum: Europ. J. Hum. Genet. 9: 559 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313761</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313761">Giannakudis et al. (2001)</a> detected parental mosaicism for a JAG1 mutation in 4 of 51 families where mutations had been identified in the ALGS patients and where parental DNA was available. In each of the 4 families, the parent with mosaicism exhibited only the characteristic face with or without an embryotoxon posterior but no other features of ALGS. One case was observed where mosaicism was present in the patient himself, reflecting a somatic mosaicism due to a deletion of the JAG1 gene. <a href="#19" class="mim-tip-reference" title="Giannakudis, J., Ropke, A., Kujat, A., Krajewska-Walasek, M., Hughes, H., Fryns, J.-P., Bankier, A., Amor, D., Schlicker, M., Hansmann, I. <strong>Parental mosaicism of JAG1 mutations in families with Alagille syndrome.</strong> Europ. J. Hum. Genet. 9: 209-216, 2001. Note: Erratum: Europ. J. Hum. Genet. 9: 559 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313761</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313761">Giannakudis et al. (2001)</a> suggested that the high prevalence of parental mosaicism be taken into account in diagnosis, genetic counseling, and prognosis in ALGS. They also suggested that the high failure rate in mutation detection in ALGS patients may in part be due to mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313761" 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 abdominal aortic coarctation with right subclavian stenosis, <a href="#51" class="mim-tip-reference" title="Raas-Rothschild, A., Shteyer, E., Lerer, I., Nir, A., Granot, E., Rein, A. J. J. T. <strong>Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.</strong> Am. J. Med. Genet. 112: 75-78, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12239725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12239725</a>] [<a href="https://doi.org/10.1002/ajmg.10652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12239725">Raas-Rothschild et al. (2002)</a> identified a deletion mutation in the JAG1 gene (<a href="/entry/601920#0013">601920.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12239725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Kamath, B. M., Krantz, I. D., Spinner, N. B., Heubi, J. E., Piccoli, D. A. <strong>Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance.</strong> Am. J. Med. Genet. 112: 194-197, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244555</a>] [<a href="https://doi.org/10.1002/ajmg.10610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244555">Kamath et al. (2002)</a> reported monozygotic twins with Alagille syndrome who were concordant for a mutation in JAG1 (<a href="/entry/601920#0014">601920.0014</a>) but discordant for a clinical phenotype. One twin had severe pulmonary atresia with mild liver involvement, whereas the other had tetralogy of Fallot and severe hepatic involvement that required a liver transplant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="El-Rassy, I., Bou-Abdallah, J., Al-Ghadban, S., Bitar, F., Nemer, G. <strong>Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.</strong> Am. J. Med. Genet. 146A: 937-939, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18266235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18266235</a>] [<a href="https://doi.org/10.1002/ajmg.a.32225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18266235">El-Rassy et al. (2008)</a> screened an ALGS proband and his JAG1 mutation-positive father and sister for additional mutations in the NOTCH2 and HEY2 (<a href="/entry/604674">604674</a>) genes but found no additional mutations. The proband had severe liver failure, mild pulmonary stenosis, and dysmorphic facial features. His 7-year-old sister had the same dysmorphic facial features, mild developmental delay, and elevated liver function enzymes, and his father had only mild dysmorphic facial features and mild retinitis pigmentosa. <a href="#17" class="mim-tip-reference" title="El-Rassy, I., Bou-Abdallah, J., Al-Ghadban, S., Bitar, F., Nemer, G. <strong>Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.</strong> Am. J. Med. Genet. 146A: 937-939, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18266235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18266235</a>] [<a href="https://doi.org/10.1002/ajmg.a.32225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18266235">El-Rassy et al. (2008)</a> suggested that other genes in the JAG/NOTCH pathway might be implicated in the diverse phenotypes seen in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18266235" 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>Among 230 patients with tetralogy of Fallot, <a href="#54" class="mim-tip-reference" title="Rauch, R., Hofbeck, M., Zweier, C., Koch, A., Zink, S., Trautmann, U., Hoyer, J., Kaulitz, R., Singer, H., Rauch, A. <strong>Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.</strong> J. Med. Genet. 47: 321-331, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19948535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19948535</a>] [<a href="https://doi.org/10.1136/jmg.2009.070391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19948535">Rauch et al. (2010)</a> found that 3 (1.3%) had Alagille syndrome associated with JAG1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19948535" 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>By Sanger sequencing and targeted next-generation sequencing in a cohort of 251 German patients with macular and cone/cone-rod dystrophies, <a href="#6" class="mim-tip-reference" title="Birtel, J., Eisenberger, T., Gliem, M., Muller, P. L., Herrmann, P., Betz, C., Zahnleiter, D., Neuhaus, C., Lenzner, S., Holz, F. G., Mangold, E., Bolz, H. J., Charbel Issa, P. <strong>Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.</strong> Sci. Rep. 8: 4824, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29555955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29555955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29555955[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/10.1038/s41598-018-22096-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29555955">Birtel et al. (2018)</a> identified a 24-year-old woman (patient 184) with bull's-eye retinopathy, mildly reduced visual acuity, and difficulty with dark adaptation who was heterozygous for a 4-bp deletion in the JAG1 gene (<a href="/entry/601920#0016">601920.0016</a>). The proband showed reduced responses on photopic electroretinography, with borderline scotopic responses. Limited clinical information was reported, but in addition to eye anomalies, the proband had double-outlet right ventricle and pulmonary stenosis, as well as severe scoliosis requiring surgery. She was negative for mutation in the Noonan syndrome (see <a href="/entry/163950">163950</a>)-associated genes PTPN11 (<a href="/entry/176876">176876</a>) and KRAS (<a href="/entry/190070">190070</a>). Her unaffected mother did not carry the mutation; other family members were not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29555955" 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="#7" class="mim-tip-reference" title="Boyer, J., Crosnier, C., Driancourt, C., Raynaud, N., Gonzales, M., Hadchouel, M., Meunier-Rotival, M. <strong>Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.</strong> Hum. Genet. 116: 445-453, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772854</a>] [<a href="https://doi.org/10.1007/s00439-005-1262-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772854">Boyer et al. (2005)</a> studied RNA products obtained from liver tissue of 5 patients with ALGS and from lymphoblastoid cell lines of 24 patients with ALGS. Mutant JAG1 transcripts were obtained in different relative amounts from RNAs with missense mutations or in-frame deletions, and from 19 of 21 RNAs with premature termination mutations. Results from lymphoblastoid cell lines correlated well with results from liver RNAs. Mutant transcripts were also recovered from tissues of an affected 23-week-old fetus with a truncation mutation. The findings suggested that most mutant transcripts with truncation mutations escape nonsense-mediated mRNA decay and could lead to the synthesis of soluble forms of JAG1. Although haploinsufficiency is the main molecular mechanism responsible for ALGS, <a href="#7" class="mim-tip-reference" title="Boyer, J., Crosnier, C., Driancourt, C., Raynaud, N., Gonzales, M., Hadchouel, M., Meunier-Rotival, M. <strong>Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.</strong> Hum. Genet. 116: 445-453, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772854</a>] [<a href="https://doi.org/10.1007/s00439-005-1262-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772854">Boyer et al. (2005)</a> concluded that the stability of most mutant JAG1 RNAs could also lead to the production of abnormal JAG1 proteins acting in a dominant-negative manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Boyer-Di Ponio, J., Wright-Crosnier, C., Groyer-Picard, M.-T., Driancourt, C., Beau, I., Hadchouel, M., Meunier-Rotival, M. <strong>Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.</strong> Hum. Molec. Genet. 16: 2683-2692, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17720887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17720887</a>] [<a href="https://doi.org/10.1093/hmg/ddm222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17720887">Boyer-Di Ponio et al. (2007)</a> found that ALGS fetal fibroblasts and mouse fibroblasts expressing JAG1 with missense or nonsense mutations formed a network of cord-like structures in culture, in contrast to the even cell distribution of wildtype human or mouse fibroblasts. Pharmacologic inhibition of Notch signaling in wildtype cells resulted in the same phenotype. Coexpression of the mutant JAG1 proteins inhibited activation of a Notch reporter construct by wildtype JAG1. <a href="#8" class="mim-tip-reference" title="Boyer-Di Ponio, J., Wright-Crosnier, C., Groyer-Picard, M.-T., Driancourt, C., Beau, I., Hadchouel, M., Meunier-Rotival, M. <strong>Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.</strong> Hum. Molec. Genet. 16: 2683-2692, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17720887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17720887</a>] [<a href="https://doi.org/10.1093/hmg/ddm222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17720887">Boyer-Di Ponio et al. (2007)</a> concluded that some ALGS-associated mutant JAG1 proteins can function as dominant-negative inhibitors of Notch signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17720887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a mouse model that mimics the hepatic phenotype of human Alagille syndrome, <a href="#63" class="mim-tip-reference" title="Schaub, J. R., Huppert, K. A., Kurial, S. N. T., Hsu, B. Y., Cast, A. E., Donnelly, B., Karns, R. A., Chen, F., Rezvani, M., Luu, H. Y., Mattis, A. N., Rougemont, A.-L., Rosenthal, P., Huppert, S. S., Willenbring, H. <strong>De novo formation of the biliary system by TGF-beta-mediated hepatocyte transdifferentiation.</strong> Nature 557: 247-251, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29720662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29720662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29720662[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/10.1038/s41586-018-0075-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29720662">Schaub et al. (2018)</a> demonstrated that transdifferentiation of hepatocytes in the mouse liver can build the biliary system that failed to form in development. In these mice, hepatocytes convert into mature cholangiocytes and form bile ducts that are effective in draining bile and persist after the cholestatic liver injury is reversed, consistent with transdifferentiation. These findings redefined hepatocyte plasticity, which appeared to be limited to metaplasia, that is, incomplete and transient biliary differentiation as an adaptation to cell injury, based on previous studies in mice with a fully developed biliary system. In contrast to bile duct development, <a href="#63" class="mim-tip-reference" title="Schaub, J. R., Huppert, K. A., Kurial, S. N. T., Hsu, B. Y., Cast, A. E., Donnelly, B., Karns, R. A., Chen, F., Rezvani, M., Luu, H. Y., Mattis, A. N., Rougemont, A.-L., Rosenthal, P., Huppert, S. S., Willenbring, H. <strong>De novo formation of the biliary system by TGF-beta-mediated hepatocyte transdifferentiation.</strong> Nature 557: 247-251, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29720662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29720662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29720662[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/10.1038/s41586-018-0075-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29720662">Schaub et al. (2018)</a> showed that de novo bile duct formation by hepatocyte transdifferentiation is independent of NOTCH signaling. The authors found that TGF-beta (TGFB; <a href="/entry/190180">190180</a>) signaling as the driver of this compensatory mechanism and show that it is active in some patients with ALGS. Furthermore, <a href="#63" class="mim-tip-reference" title="Schaub, J. R., Huppert, K. A., Kurial, S. N. T., Hsu, B. Y., Cast, A. E., Donnelly, B., Karns, R. A., Chen, F., Rezvani, M., Luu, H. Y., Mattis, A. N., Rougemont, A.-L., Rosenthal, P., Huppert, S. S., Willenbring, H. <strong>De novo formation of the biliary system by TGF-beta-mediated hepatocyte transdifferentiation.</strong> Nature 557: 247-251, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29720662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29720662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29720662[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/10.1038/s41586-018-0075-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29720662">Schaub et al. (2018)</a> showed that TGF-beta signaling can be targeted to enhance the formation of the biliary system from hepatocytes, and that the transdifferentiation-inducing signals and remodelling capacity of the bile-duct-deficient liver can be harnessed with transplanted hepatocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29720662" 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="#Kocoshis1981" class="mim-tip-reference" title="Kocoshis, S. A., Cottrill, C. M., O'Connor, W. N., Haugh, R., Johnson, G. L., Noonan, J. A. <strong>Congenital heart disease, butterfly vertebrae, and extrahepatic biliary atresia: a variant of arteriohepatic dysplasia?</strong> J. Pediat. 99: 436-439, 1981.">Kocoshis et al. (1981)</a>; <a href="#Riely1978" class="mim-tip-reference" title="Riely, C. A., LaBrecque, D. R., Ghent, C., Horwich, A., Klatskin, G. <strong>A father and son with cholestasis and peripheral pulmonary stenosis: a distinct form of intrahepatic cholestasis.</strong> J. Pediat. 92: 406-411, 1978.">Riely et al. (1978)</a>; <a href="#Riely1981" class="mim-tip-reference" title="Riely, C. A., Rosenfield, N. S., Cotlier, E. <strong>Arteriohepatic dysplasia. (Letter)</strong> Pediatrics 68: 464, 1981.">Riely et al. (1981)</a>
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Adams, P. C.
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Dig. Dis. Sci. 31: 438-442, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3007058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3007058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3007058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01311683" target="_blank">Full Text</a>]
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Alagille, D., Estrada, A., Hadchouel, M., Gautier, M., Odihvre, M., Dommergues, J. P.
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<strong>Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3806290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3806290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3806290" 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/s0022-3476(87)80153-1" target="_blank">Full Text</a>]
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Alagille, D., Odievre, M., Gautier, M., Dommergues, J. P.
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<strong>Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/803282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">803282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=803282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Anad, F., Burn, J., Matthews, D., Cross, I., Davison, B. C. C., Mueller, R., Sands, M., Lillington, D. M., Eastham, E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2074558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2074558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2074558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Berman, M. D., Ishak, K. G., Schaefer, E. J., Barnes, S., Jones, E. A.
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<strong>Syndromatic hepatic ductular hypoplasia (arteriohepatic dysplasia): a clinical and hepatic histologic study of three patients.</strong>
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Digest. Dis. Sci. 26: 485-497, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7238269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7238269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7238269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01308096" target="_blank">Full Text</a>]
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Birtel, J., Eisenberger, T., Gliem, M., Muller, P. L., Herrmann, P., Betz, C., Zahnleiter, D., Neuhaus, C., Lenzner, S., Holz, F. G., Mangold, E., Bolz, H. J., Charbel Issa, P.
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<strong>Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.</strong>
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Sci. Rep. 8: 4824, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29555955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29555955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29555955[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=29555955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Boyer, J., Crosnier, C., Driancourt, C., Raynaud, N., Gonzales, M., Hadchouel, M., Meunier-Rotival, M.
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<strong>Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.</strong>
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Hum. Genet. 116: 445-453, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Boyer-Di Ponio, J., Wright-Crosnier, C., Groyer-Picard, M.-T., Driancourt, C., Beau, I., Hadchouel, M., Meunier-Rotival, M.
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<strong>Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.</strong>
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Hum. Molec. Genet. 16: 2683-2692, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17720887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17720887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17720887" 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/ddm222" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jcem.76.6.8501153" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320240411" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/hep.1840020311" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.52.5.360" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00426072" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000472362" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.29.4.233" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.31.6.453" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32225" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.4.264" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200613" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1977.tb07801.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/S0161-6420(99)90072-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20000731)93:3<250::aid-ajmg18>3.0.co;2-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00209488" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.40.12.891" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10610" target="_blank">Full Text</a>]
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Kamath, B. M., Loomes, K. M., Oakey, R. J., Emerick, K. E. M., Conversano, T., Spinner, N. B., Piccoli, D. A., Krantz, I. D.
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[<a href="https://doi.org/10.1002/ajmg.10579" target="_blank">Full Text</a>]
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<strong>Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.10628" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34369" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.CIR.0000121361.01862.A4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10608" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1994.tb03984.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1987.04460060114050" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(81)80341-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.2.152" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/hep.1840020413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320350419" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0797-243" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960628)63:4<537::AID-AJMG5>3.0.CO;2-L" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01998.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.24.10.621" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2214/ajr.135.6.1217" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/s41586-018-0075-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00285164" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320190215" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(83)80345-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20333" target="_blank">Full Text</a>]
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Teebi, A. S., Murthy, D. S., Ismail, E. A. R., Redha, A. A.
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<strong>Alagille syndrome with de novo del(20)(p11.2).</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320420109" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ejhg.2011.181" target="_blank">Full Text</a>]
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Watson, G. H., Miller, V.
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<strong>Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.</strong>
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[<a href="https://doi.org/10.1136/adc.48.6.459" target="_blank">Full Text</a>]
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Woolfenden, A. R., Albers, G. W., Steinberg, G. K., Hahn, J. S., Johnston, D. C. C., Farrell, K.
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<strong>Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy.</strong>
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[<a href="https://doi.org/10.1542/peds.103.2.505" target="_blank">Full Text</a>]
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Yuan, Z.-R., Kohsaka, T., Ikegaya, T., Suzuki, T., Okano, S., Abe, J., Kobayashi, N., Yamada, M.
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<strong>Mutational analysis of the Jagged 1 gene in Alagille syndrome families.</strong>
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Zhang, F., Deleuze, J. F., Aurias, A., Dutrillaux, A.-M., Hugon, R.-N., Alagille, D., Thomas, G., Hadchouel, M.
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<strong>Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1967307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1967307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1967307" 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/s0022-3476(05)81648-8" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/02/2022
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Ada Hamosh - updated : 09/10/2018<br>Cassandra L. Kniffin - updated : 1/30/2014<br>Cassandra L. Kniffin - updated : 11/1/2012<br>Cassandra L. Kniffin - updated : 2/9/2012<br>Cassandra L. Kniffin - updated : 6/3/2010<br>Patricia A. Hartz - updated : 10/22/2009<br>Marla J. F. O'Neill - updated : 10/27/2008<br>Anne M. Stumpf - reorganized : 10/17/2008<br>Victor A. McKusick - updated : 6/16/2006<br>Marla J. F. O'Neill - updated : 1/11/2006<br>Marla J. F. O'Neill - updated : 6/23/2004<br>Natalie E. Krasikov - updated : 3/30/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Deborah L. Stone - updated : 4/22/2003<br>Deborah L. Stone - updated : 3/26/2003<br>Victor A. McKusick - updated : 10/7/2002<br>Paul Brennan - updated : 3/20/2002<br>Michael B. Petersen - updated : 8/21/2001<br>Victor A. McKusick - updated : 8/7/2000<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 3/11/1999<br>Victor A. McKusick - updated : 9/17/1998<br>Victor A. McKusick - updated : 7/3/1997<br>Iosif W. Lurie - updated : 3/6/1997<br>Iosif W. Lurie - updated : 8/11/1996
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Victor A. McKusick : 6/4/1986
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carol : 03/17/2022<br>carol : 03/03/2022<br>alopez : 03/02/2022<br>alopez : 09/10/2018<br>mgross : 01/30/2014<br>ckniffin : 1/30/2014<br>carol : 9/18/2013<br>carol : 8/28/2013<br>carol : 8/27/2013<br>terry : 3/28/2013<br>carol : 11/7/2012<br>ckniffin : 11/1/2012<br>alopez : 10/25/2012<br>carol : 2/21/2012<br>ckniffin : 2/9/2012<br>carol : 12/19/2011<br>carol : 8/13/2010<br>wwang : 6/8/2010<br>ckniffin : 6/3/2010<br>carol : 4/5/2010<br>mgross : 10/22/2009<br>wwang : 11/3/2008<br>terry : 10/27/2008<br>alopez : 10/20/2008<br>alopez : 10/17/2008<br>carol : 8/16/2006<br>alopez : 6/22/2006<br>terry : 6/16/2006<br>wwang : 1/11/2006<br>terry : 1/11/2006<br>wwang : 6/2/2005<br>carol : 6/30/2004<br>carol : 6/30/2004<br>terry : 6/23/2004<br>carol : 4/8/2004<br>terry : 3/30/2004<br>carol : 2/19/2004<br>terry : 2/19/2004<br>carol : 4/22/2003<br>carol : 3/26/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 10/9/2002<br>tkritzer : 10/8/2002<br>terry : 10/7/2002<br>alopez : 3/20/2002<br>terry : 11/15/2001<br>cwells : 8/23/2001<br>cwells : 8/21/2001<br>carol : 8/7/2000<br>carol : 11/24/1999<br>jlewis : 6/15/1999<br>jlewis : 6/9/1999<br>terry : 6/2/1999<br>terry : 4/30/1999<br>carol : 3/15/1999<br>terry : 3/11/1999<br>carol : 9/21/1998<br>terry : 9/17/1998<br>mark : 7/7/1997<br>terry : 7/3/1997<br>mark : 3/6/1997<br>terry : 3/5/1997<br>terry : 9/20/1996<br>mark : 9/10/1996<br>terry : 9/4/1996<br>carol : 8/11/1996<br>mark : 5/2/1996<br>terry : 4/22/1996<br>mark : 7/7/1995<br>carol : 1/6/1995<br>terry : 8/26/1994<br>jason : 7/27/1994<br>mimadm : 6/25/1994<br>carol : 10/21/1993
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<strong>#</strong> 118450
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ALAGILLE SYNDROME 1; ALGS1
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<em>Alternative titles; symbols</em>
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ALAGILLE SYNDROME; ALGS<br />
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ALAGILLE-WATSON SYNDROME; AWS<br />
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CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS<br />
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ARTERIOHEPATIC DYSPLASIA; AHD<br />
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HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
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<strong>SNOMEDCT:</strong> 31742004;
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<strong>ICD10CM:</strong> Q44.71;
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<strong>ORPHA:</strong> 261600, 261619, 52;
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<strong>DO:</strong> 9245;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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20p12.2
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Alagille syndrome 1
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118450
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Autosomal dominant
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3
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JAG1
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601920
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Alagille syndrome can be caused by heterozygous mutation in the Jagged-1 gene (JAG1; 601920) on chromosome 20p12.</p>
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<strong>Description</strong>
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<p>Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012). </p><p>Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. </p><p><strong><em>Genetic Heterogeneity of Alagille Syndrome</em></strong></p><p>
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Another form of Alagille syndrome (ALGS2; 610205) is caused by mutation in the NOTCH2 gene (600275).</p>
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<strong>Clinical Features</strong>
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<p>In addition to neonatal jaundice, features of this syndrome include the following: in the eye, posterior embryotoxon and retinal pigmentary changes; in the heart, pulmonic valvular stenosis as well as peripheral arterial stenosis; in the bones, abnormal vertebrae ('butterfly' vertebrae) and decrease in interpediculate distance in the lumbar spine; in the nervous system, absent deep tendon reflexes and poor school performance; in the facies, broad forehead, pointed mandible and bulbous tip of the nose and in the fingers, varying degrees of foreshortening (Watson and Miller, 1973; Alagille et al., 1975; Rosenfield et al., 1980). Histology of the liver demonstrates few intrahepatic bile ducts. </p><p>Shulman et al. (1984) described a kindred with 5 affected persons in 3 generations. Severity varied widely. In 2 sisters, neonatal jaundice, peripheral pulmonic stenosis, and characteristic facies including broad forehead, deep-set eyes, prominent nose, and pointed chin were features. One died at age 5 years of cirrhosis with portal hypertension and the other at 18 months of congestive heart failure. Their asymptomatic mother and maternal aunt had similar facial appearance, pulmonic stenosis, skeletal anomalies, and bilateral posterior embryotoxon. The maternal grandfather, who refused evaluation, had a similar appearance, history of liver disease, and a heart murmur. </p><p>Li et al. (1997) pictured clinical features of Alagille syndrome, including prominent forehead, pointed chin, posterior embryotoxon, and butterfly vertebra due to abnormal clefting of the vertebral bodies. Liver biopsy demonstrated multiple branches of the hepatic artery and portal vein in the portal tract without any accompanying bile ducts. </p><p>Based on 56 of their own observations, Krantz et al. (1997) showed that all affected persons have hepatic, cardiac, and facial abnormalities. Vertebral defects were found in 59%, renal in 23%, and ocular in 83% of examined patients. Two persons in their group had pancreatic insufficiency. </p><p>Lykavieris et al. (2001) reviewed the clinical outcome of 163 French patients with Alagille syndrome presenting in childhood. All patients had at least 3 of the 5 major clinical features. Overall, the prognosis was found to be worse in children presenting with neonatal cholestatic jaundice, although severe complications were possible even after late-onset liver disease. The authors argued for close lifelong follow-up. </p><p><strong><em>Liver Involvement</em></strong></p><p>
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In the 3 cases studied by Berman et al. (1981), cholestasis was not progressive and, although the SGPT was chronically elevated (122-520 units per liter), features of liver cell failure did not develop. </p><p>Riely et al. (1979) gave a useful differential diagnosis of familial intrahepatic cholestasis: Zellweger syndrome (see 214100), cholestasis-lymphedema syndrome (214900), Byler disease (211600), and cholestasis with defective formation of cholic acid (214950). Alpha-1-antitrypsin deficiency (613490) may present as neonatal cholestasis with a paucity of intrahepatic bile ducts. </p><p>In a longitudinal study, Dahms et al. (1982) sought to account for the pathologic hallmark of arteriohepatic dysplasia, namely, the paucity or absence of intrahepatic bile ducts. Liver biopsies under 6 months of age showed intrahepatic cholestasis and portal inflammation and in 2 of 5 cases giant cell transformation. None showed congenital absence of interlobular bile ducts; 3 of 5 had normal numbers of interlobular bile ducts, and 2 of 5 had paucity. Three of 5 showed focal destructive inflammation of interlobular bile ducts. All biopsies performed later (ages 3 to 20 years) showed the characteristic paucity or absence. By this time cholestasis and inflammation had largely resolved but some fibrosis persisted. An acquired bile duct deficiency, possibly due to destructive inflammation of duct epithelium, was suggested. This disorder should be considered in all infants with cholestasis. The histologic diagnosis may be difficult or impossible in infancy. The diagnosis in that age group must rest on the syndromatic features. </p><p>Hepatocellular carcinoma has been reported in children with Alagille syndrome (Ong et al., 1986; Kaufman et al., 1987; Rabinovitz et al., 1989) and in an adult with Alagille syndrome without cirrhosis (Adams, 1986). Legius et al. (1990) speculated that loss of heterozygosity for a cell cycle-regulating gene rather than underlying chronic liver disease may be the explanation of liver carcinoma. </p><p><strong><em>Craniofacial Involvement</em></strong></p><p>
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Sokol et al. (1983) proposed that the facies seen in ALGS is nonspecific and secondary to congenital intrahepatic cholestasis from many causes. </p><p>Mueller et al. (1984) reviewed phenotypic features of 56 reported cases of Alagille syndrome and 7 of their own. They emphasized a characteristic facies with prominent forehead and chin with deep-set eyes and eye changes, usually asymptomatic: anterior chamber anomalies, which may be associated with eccentric or ectopic pupils, and retinal changes of chorioretinal atrophy and pigment clumping. Also see review by Mueller (1987). </p><p>Krantz et al. (1997) pictured the supposedly characteristic facies of 5 patients, including a mother and daughter and a father and daughter. Posterior embryotoxon in a father and daughter with ALGS was also pictured. </p><p>Kamath et al. (2002) reported 2 patients with mutation-proven ALGS who also had unilateral coronal craniosynostosis. They found no mutations in genes known to be associated with craniosynostosis and suggested that the JAG1 gene plays a role in cranial suture formation. </p><p>Kamath et al. (2003) studied 53 JAG1 mutation-positive relatives of 34 ALGS probands and found the characteristic facies to be the most highly penetrant feature. </p><p>Kamath et al. (2002) reported that the 49 clinical dysmorphologists they asked to examine a photographic panel of 18 pediatric and adult individuals with ALGS and other forms of congenital intrahepatic cholestasis correctly identified the ALGS facies 79% of the time, suggesting that the facies is specific to ALGS. Sokol (2004) and Kamath et al. (2004) exchanged letters regarding the evidence for and against a distinct facies in Alagille syndrome. </p><p><strong><em>Skeletal Involvement</em></strong></p><p>
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Rosenfield et al. (1980) described abnormalities in the shape and segmentation of vertebral bodies and short distal phalanges. </p><p><strong><em>Ocular Involvement</em></strong></p><p>
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Raymond et al. (1989) described Axenfeld anomaly in a 24-year-old black man with other signs of Alagille syndrome: congenital intrahepatic biliary atresia, systolic ejection murmur, short stature, butterfly vertebra at T-10, and hand changes (short ulnae, short scaphoids, and short distal phalanges). </p><p>From a study of 22 children with Alagille syndrome and 23 of their parents, Hingorani et al. (1999) concluded that Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examination of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of Alagille syndrome, eliminating the need for extensive and invasive investigations. The most common ocular abnormalities in patients were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not significantly affected by these ocular changes. Ocular abnormalities, including posterior embryotoxon, iris abnormalities, and optic disc or fundus pigmentary changes, were detected in 1 parent in 36% of cases. </p><p><strong><em>Kidney Involvement</em></strong></p><p>
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LaBrecque et al. (1982) described 15 affected persons in 4 generations. They demonstrated renal dysplasia, renal artery stenosis, and hypertension in some. </p><p>Martin et al. (1996) described 3 children with Alagille syndrome, in 2 of whom a unilateral multicystic dysplastic kidney was detected by prenatal ultrasound; in the other, a solitary cortical cyst was found later in childhood. All had normal renal function, growth, and liver synthetic function but continued to have clinical and biochemical signs of cholestasis. Thus the authors concluded that Alagille syndrome should be included in the differential diagnosis of cystic kidney disorders associated with cholestatic liver disease. </p><p>In a retrospective study involving 187 patients with Alagille syndrome due to JAG1 mutations who had evaluable renal information, Kamath et al. (2012) found that 73 (39%) had a renal anomaly or disease. Most (58.9%) had renal dysplasia, followed by renal tubular acidosis (9.5%), vesicoureteral reflux (8.2%), urinary obstruction (8.2%), and chronic renal failure (5.4%). Renal dysplasia was defined by increased echogenicity of the kidneys, reflecting increased fibrous tissue. Many of the patients had impaired glomerular filtration rates (GFR). There were no genotype/phenotype correlations. Kamath et al. (2012) cited evidence indicating that the Notch signaling pathway is involved in kidney development, and suggested that renal involvement may be considered a disease-defining feature of Alagille syndrome. </p><p><strong><em>Cardiovascular Involvement</em></strong></p><p>
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Mueller et al. (1981) studied 7 patients in 5 families and reviewed 62 reported cases. Of the 69 cases, death from cardiovascular or hepatic complications occurred by age 5 years in 16.</p><p>Woolfenden et al. (1999) described 2 children with sporadic Alagille syndrome associated with moyamoya (252350). They interpreted this finding as indicating that Alagille syndrome is a vasculopathy. </p><p>Raas-Rothschild et al. (2002) found descriptions of abdominal coarctation of the aorta in 3 reported cases of ALGS. They described a fourth case in which, in addition to abdominal coarctation, there was right subclavian stenosis. </p><p>Lykavieris et al. (2003) reviewed the records of 174 patients with Alagille syndrome without liver failure and found that 22% had spontaneous or postprocedure bleeding in various organs. The authors suggested that patients with ALGS are at special risk for bleeding. Although they could not exclude a role for hypercholesterolemia, they speculated that abnormalities in the JAGGED1 signaling pathway may impair hemostatic function. </p><p>In a retrospective chart review of 268 individuals with ALGS, Kamath et al. (2004) found that 25 (9%) had noncardiac vascular anomalies or events, and that vascular accidents accounted for 34% of mortality in this cohort. The documented vascular anomalies included basilar and middle cerebral artery aneurysms, internal carotid artery anomalies, aortic aneurysms, and coarctation of the aorta; 1 patient had moyamoya disease. Kamath et al. (2004) concluded that vascular anomalies are a major cause of morbidity and mortality in patients with ALGS. </p><p>Rocha et al. (2012) reported a 10-year-old Caucasian girl with Alagille syndrome, confirmed by the finding of a truncating mutation in the JAG1 gene, who was found to have moyamoya syndrome on cerebral magnetic resonance angiography. The patient had no neurologic deficits. Features of Alagille syndrome included posterior embryotoxon, eccentric pupils, peripheral pulmonary stenosis, and facial dysmorphism. Bilirubin was normal, but cholesterol was elevated. Rocha et al. (2012) reviewed the several cases of moyamoya syndrome previously reported in Alagille syndrome, noting that it can be a feature of the disorder. </p><p><strong><em>Other Features</em></strong></p><p>
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In a 36-day-old male with typical features of Alagille syndrome, Rodriguez et al. (1991) found associated caudal dysplasia sequence: imperforate anus, rectourethral fistula, lumbosacral abnormalities, and dysplastic right kidney. </p><p>Bucuvalas et al. (1993) concluded that growth-retarded children with Alagille syndrome are insensitive to growth hormone (GH; 139250). They thought that the growth disturbance and metabolic defects may be due in part to failure to increase IGF1 (147440) concentrations in response to GH, implying that such patients may benefit from IGF1 treatment. </p><p>In a 19-year-old woman with Alagille syndrome diagnosed at the age of 8 years, Kato et al. (1994) described papillary thyroid carcinoma (see 188550) with multiple lung metastases. They reviewed 12 reported cases of hepatocellular carcinoma. Development of carcinoma was as early as age 2 years and as late as 48 years. </p><p>Ho et al. (2000) described a 3-year-old Asian boy with Alagille syndrome who had severe generalized xanthomas, including oral xanthomas, and marked hypodontia. </p><p>Kamath et al. (2002) reported the presence of supernumerary digital flexion creases, a finding reported in less than 1% of the general population, in 16 of 46 (35%) ALGS probands examined. </p>
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<strong>Diagnosis</strong>
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<p>Diagnosis in a proband is made if bile duct paucity is accompanied by 3 of the main 5 clinical criteria (Alagille et al., 1987). It has been suggested that family members should be considered affected if they express any of the 5 main clinical features (variable expressivity) (Watson and Miller, 1973; Dhorne-Pollet et al., 1994). </p><p>Gonioscopy with demonstration of embryotoxon is a valuable way to make the diagnosis in mildly affected persons (Romanchuk et al., 1981). </p><p>In a review of the Alagille syndrome, Turnpenny and Ellard (2012) noted that the diagnosis can be difficult in some patients who do not show unequivocal classic features of the disorder. </p>
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<strong>Population Genetics</strong>
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<p>Danks et al. (1977) gave an estimated minimum population frequency of 1 in 70,000 births, when ascertained by the presence of neonatal jaundice. Li et al. (1997) considered the true incidence most likely higher. </p>
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<strong>Inheritance</strong>
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<p>Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance with incomplete penetrance (summary by Turnpenny and Ellard, 2012). </p><p>Henriksen et al. (1977) reported affected father and daughter, Riely et al. (1979) and Rosenfield et al. (1980) reported father and son, and LaBrecque and Mitros (1982) described the condition in 4 generations of 1 kindred. </p><p>Although autosomal dominant inheritance with reduced penetrance had been suggested by the analysis of a limited number of families, no statistical analysis had been performed prior to that done by Dhorne-Pollet et al. (1994). They analyzed 33 families collected through 43 probands. They corroborated the autosomal dominant inheritance and concluded that penetrance is 94% and that 15% of cases are sporadic. Expressivity was variable; 26 persons (15 persons and 11 sibs) were identified as presenting minor forms of the disease. Because the individual manifestations are rare in the general population, Dhorne-Pollet et al. (1994) assumed that the presence of only 1 feature (the facies being excluded) was sufficient for considering a family member to be affected with Alagille syndrome. The frequency of butterfly-like vertebrae is unknown but must be rare. Embryotoxon is the symptom of Alagille syndrome most frequent in the general population, affecting 8 to 10%. Among the 33 families, mothers were affected in 12 families and fathers were affected in only 3. </p><p>To determine the rate of new mutations and to develop criteria for detecting the disorder in parents, Elmslie et al. (1995) systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmologic assessment, and chromosome analysis. Six parents had typical anomalies in 2 or more systems, pointing to the presence of autosomal dominant inheritance. In 3 cases, the father was the affected parent, and in 3 the mother was affected. In only one case had the affected parent previously suspected that he was affected. All affected parents had posterior embryotoxon and at least one other major syndromic feature. Five had abnormalities of the spine and eye. In 3, midline notches on the vertebral endplates were present, representing fused butterfly vertebrae. Four also had a short ulna. Two had anomalous optic discs and a pigmentary retinopathy. The mother in one family and the father in a second had a history of unexplained jaundice in infancy and recovered spontaneously. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counseling. </p><p>In a study of 53 JAG1 mutation-positive relatives of 34 ALGS probands, Kamath et al. (2003) found that 25 of the relatives (including 2 with no features of ALGS) did not meet the accepted clinical criteria. Seventeen had mild features found only after targeted evaluation; and 11 were readily diagnosed with ALGS. The frequency of cardiac and liver disease was notably lower in relatives than in probands, characterizing the milder end of the phenotypic spectrum. </p>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</h4>
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<p>Byrne et al. (1986) described arteriohepatic dysplasia in a small-for-gestational age white female infant who had deletion of 20p11.2. The child had multiple minor anomalies and severe jejunal stenosis similar to the findings in 2 previously reported instances of 20p11.2 deletions. In addition, mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed. The possibility of a gene for arteriohepatic dysplasia at this site on chromosome 20 was raised by the authors. </p><p>Mujica et al. (1989) described Alagille syndrome in association with an apparently balanced translocation t(4;14)(q21;q21). </p><p>Schnittger et al. (1989) found an interstitial deletion of chromosome 20 in a 20-year-old female with typical signs. Considering the clinical similarity of 9 further cases with a 20p deletion reported in the literature, Schnittger et al. (1989) proposed that AWS is a 'contiguous gene syndrome' provisionally located in the area 20p12.1-p11.23. </p><p>In an 8-year-old boy with arteriohepatic dysplasia, Zhang et al. (1990) demonstrated deletion of 20p12.3-p11.23. Legius et al. (1990) found deletion of 20p11.2 in a patient with this syndrome. They emphasized the peculiar face with parietal bossing and small upturned nose. Anad et al. (1990) added 5 cases of 20p deletion to the 10 already known. Four had the features of Alagille syndrome. Furthermore, they observed interstitial deletion of 20p in a mother and son, both of whom had features of Alagille syndrome. Teebi et al. (1992) described an Arab boy with this syndrome associated with a de novo deletion of chromosome 20: 46,XY,del(20)(p11.2). </p><p>By high resolution banding techniques, nonradioactive in situ hybridization, and molecular studies for allelic losses, Desmaze et al. (1992) found no evidence of microdeletion of chromosome 20 in 14 patients with Alagille syndrome. </p><p>Studying a case of ALGS with microdeletion in the short arm of chromosome 20 encompassing bands p12.3 to p11.23, Deleuze et al. (1994) showed that 3 genes were outside the deletion and thus excluded as candidate genes: paired box-1 (PAX1; 167411), cystatin C (CST3; 604312), and hepatic nuclear factor-3-beta (HNF3B; 600288). </p><p>Spinner et al. (1994) described a cytologically balanced t(2;20) in a 2-generation family with Alagille syndrome. The family was identified through a proband with all 5 of the clinical criteria for diagnosis of the disorder; clinical assessment of the family identified 2 other affected individuals, who had less severe disease. Cosegregation of the translocation with the clinical disorder indicated that the cytogenetic rearrangement involved the ALGS locus. Spinner et al. (1994) constructed hybrids from the patients' cell lines and by studying these were able to localize the translocation breakpoint distal to D20S61 and D20S56 within band 20p12. Characteristic facies in the 15-year-old proband and her subclinically affected father was illustrated, showing prominent forehead, triangular facies, deep-set eyes, and a small, anteriorly pointed chin. The proband's sister had hepatomegaly without jaundice and a systolic murmur in infancy and had the same facial features. Failure to thrive was present at 6 months of age. Biochemical evaluation at 2 years of age demonstrated mildly elevated transaminases and a moderately elevated alkaline phosphatase. Eye examination demonstrated posterior embryotoxon. The father demonstrated biochemical liver abnormalities, including elevated transaminases and hypercholesterolemia, but no clinically evident liver disease. </p><p>By mapping with microsatellite markers in the Alagille region, Deleuze et al. (1994) and Rand et al. (1995) concluded that submicroscopic deletions are rarely the basis of Alagille syndrome in cytogenetically normal patients. </p><p>Li et al. (1996) described a 6-year-old boy with Alagille syndrome and hypoplastic corpus callosum. This patient had interstitial deletion of the 20p12.2-p11.23 (or 20p13-p12.2) segment due to segregation of maternal ins(7;20)(q11.23;p11.23p12.2 or p12.2p13). His elder brother, who died of liver failure and tetralogy of Fallot, had not been studied cytogenetically. Because the maternal phenotype was normal, Li et al. (1996) concluded that the gene for Alagille syndrome would be located within the deletion extent rather than at the insertion breakpoints. </p><p>Krantz et al. (1997) reported only 2 visible rearrangements (1 apparently balanced translocation and 1 deletion) in a group of 56 persons, and only 1 more patient was found to have submicroscopic deletion within 20p12. A low incidence of deletions argued for a single gene etiology of the syndrome. </p><p>Li et al. (1997) estimated that less than 7% of patients with Alagille syndrome have deletions of 20p12. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Hol et al. (1995) performed linkage analysis in a 3-generation family with ALGS in which the affected members had a normal karyotype. A lod score of 2.96 was obtained with D20S27 at no recombination. Combining D20S27 and D20S61 to a single highly informative locus resulted in a maximum lod score of 3.56 at theta = 0.0. Haplotype analysis positioned ALGS between D20S59 and D20S65, markers that define an interval of about 40 cM. Allelic loss was not observed for the tested markers and no abnormalities were detected in the PAX1 gene (167411), which because of its location at 20p11.2 was considered a candidate gene for ALGS. </p><p>Pollet et al. (1995) established a YAC contig that spans the ALGS region that should be valuable for cloning candidate genes and searching for DNA polymorphisms segregating with the disorder. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<p>Oda et al. (1997) and Li et al. (1997) demonstrated that Alagille syndrome is caused by mutations in the human homolog of Jagged-1 (JAG1; 601920), which encodes a ligand for NOTCH1 (190198). Oda et al. (1997) generated a cloned contig of the critical region revealed by cytogenetic deletions and used fluorescence in situ hybridization on cells from patients with submicroscopic deletions to narrow the candidate region to only 250 kb. Within this region they identified JAG1, the human homolog of rat Jagged-1, which encodes a ligand for the NOTCH1 receptor. Cell-cell Jagged/Notch interactions are critical for determination of cell fates in early development, making this an attractive candidate gene for a developmental disorder in humans. Determining the complete exon/intron structure of JAG1 allowed them to perform detailed mutation analysis of DNA samples from nondeletion ALGS patients, revealing 3 frameshift mutations, 2 splice donor site mutations, and 1 mutation abolishing RNA expression from the altered allele. They concluded that ALGS is caused by haploinsufficiency of JAG1. </p><p>Li et al. (1997) mapped the human JAG1 gene to the Alagille syndrome critical region within 20p12, and demonstrated 4 distinct coding mutations in JAG1 in 4 Alagille syndrome families. </p><p>Yuan et al. (1998) analyzed the JAG1 gene in 8 Alagille syndrome families. Four categories of mutations were identified: (1) 4 frameshift mutations in exons 9, 22, 24, and 26 were exhibited respectively in affected individuals in 4 ALGS families, which resulted in moving the translational frame of JAG1; (2) 1 nonsense mutation, a 1-bp substitution in exon 5 of the EGF-like repeat domain, was detected in 2 unrelated ALGS families, which altered codon 235 from arginine to stop; (3) 1 acceptor splice site mutation in exon 5 was found in a sporadic patient; and (4) a 1.3-Mb deletion, which included the entire JAG1 gene, was found in another patient. All of the mutations were present in heterozygous form, supporting the dominant inheritance of Alagille syndrome. </p><p>Giannakudis et al. (2001) detected parental mosaicism for a JAG1 mutation in 4 of 51 families where mutations had been identified in the ALGS patients and where parental DNA was available. In each of the 4 families, the parent with mosaicism exhibited only the characteristic face with or without an embryotoxon posterior but no other features of ALGS. One case was observed where mosaicism was present in the patient himself, reflecting a somatic mosaicism due to a deletion of the JAG1 gene. Giannakudis et al. (2001) suggested that the high prevalence of parental mosaicism be taken into account in diagnosis, genetic counseling, and prognosis in ALGS. They also suggested that the high failure rate in mutation detection in ALGS patients may in part be due to mosaicism. </p><p>In a patient with abdominal aortic coarctation with right subclavian stenosis, Raas-Rothschild et al. (2002) identified a deletion mutation in the JAG1 gene (601920.0013). </p><p>Kamath et al. (2002) reported monozygotic twins with Alagille syndrome who were concordant for a mutation in JAG1 (601920.0014) but discordant for a clinical phenotype. One twin had severe pulmonary atresia with mild liver involvement, whereas the other had tetralogy of Fallot and severe hepatic involvement that required a liver transplant. </p><p>El-Rassy et al. (2008) screened an ALGS proband and his JAG1 mutation-positive father and sister for additional mutations in the NOTCH2 and HEY2 (604674) genes but found no additional mutations. The proband had severe liver failure, mild pulmonary stenosis, and dysmorphic facial features. His 7-year-old sister had the same dysmorphic facial features, mild developmental delay, and elevated liver function enzymes, and his father had only mild dysmorphic facial features and mild retinitis pigmentosa. El-Rassy et al. (2008) suggested that other genes in the JAG/NOTCH pathway might be implicated in the diverse phenotypes seen in this family. </p><p>Among 230 patients with tetralogy of Fallot, Rauch et al. (2010) found that 3 (1.3%) had Alagille syndrome associated with JAG1 mutations. </p><p>By Sanger sequencing and targeted next-generation sequencing in a cohort of 251 German patients with macular and cone/cone-rod dystrophies, Birtel et al. (2018) identified a 24-year-old woman (patient 184) with bull's-eye retinopathy, mildly reduced visual acuity, and difficulty with dark adaptation who was heterozygous for a 4-bp deletion in the JAG1 gene (601920.0016). The proband showed reduced responses on photopic electroretinography, with borderline scotopic responses. Limited clinical information was reported, but in addition to eye anomalies, the proband had double-outlet right ventricle and pulmonary stenosis, as well as severe scoliosis requiring surgery. She was negative for mutation in the Noonan syndrome (see 163950)-associated genes PTPN11 (176876) and KRAS (190070). Her unaffected mother did not carry the mutation; other family members were not available for study. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</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>Boyer et al. (2005) studied RNA products obtained from liver tissue of 5 patients with ALGS and from lymphoblastoid cell lines of 24 patients with ALGS. Mutant JAG1 transcripts were obtained in different relative amounts from RNAs with missense mutations or in-frame deletions, and from 19 of 21 RNAs with premature termination mutations. Results from lymphoblastoid cell lines correlated well with results from liver RNAs. Mutant transcripts were also recovered from tissues of an affected 23-week-old fetus with a truncation mutation. The findings suggested that most mutant transcripts with truncation mutations escape nonsense-mediated mRNA decay and could lead to the synthesis of soluble forms of JAG1. Although haploinsufficiency is the main molecular mechanism responsible for ALGS, Boyer et al. (2005) concluded that the stability of most mutant JAG1 RNAs could also lead to the production of abnormal JAG1 proteins acting in a dominant-negative manner. </p><p>Boyer-Di Ponio et al. (2007) found that ALGS fetal fibroblasts and mouse fibroblasts expressing JAG1 with missense or nonsense mutations formed a network of cord-like structures in culture, in contrast to the even cell distribution of wildtype human or mouse fibroblasts. Pharmacologic inhibition of Notch signaling in wildtype cells resulted in the same phenotype. Coexpression of the mutant JAG1 proteins inhibited activation of a Notch reporter construct by wildtype JAG1. Boyer-Di Ponio et al. (2007) concluded that some ALGS-associated mutant JAG1 proteins can function as dominant-negative inhibitors of Notch signaling. </p>
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</span>
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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>In a mouse model that mimics the hepatic phenotype of human Alagille syndrome, Schaub et al. (2018) demonstrated that transdifferentiation of hepatocytes in the mouse liver can build the biliary system that failed to form in development. In these mice, hepatocytes convert into mature cholangiocytes and form bile ducts that are effective in draining bile and persist after the cholestatic liver injury is reversed, consistent with transdifferentiation. These findings redefined hepatocyte plasticity, which appeared to be limited to metaplasia, that is, incomplete and transient biliary differentiation as an adaptation to cell injury, based on previous studies in mice with a fully developed biliary system. In contrast to bile duct development, Schaub et al. (2018) showed that de novo bile duct formation by hepatocyte transdifferentiation is independent of NOTCH signaling. The authors found that TGF-beta (TGFB; 190180) signaling as the driver of this compensatory mechanism and show that it is active in some patients with ALGS. Furthermore, Schaub et al. (2018) showed that TGF-beta signaling can be targeted to enhance the formation of the biliary system from hepatocytes, and that the transdifferentiation-inducing signals and remodelling capacity of the bile-duct-deficient liver can be harnessed with transplanted hepatocytes. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Kocoshis et al. (1981); Riely et al. (1978); Riely et al. (1981)
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</span>
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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>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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Adams, P. C.
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<strong>Hepatocellular carcinoma associated with arteriohepatic dysplasia.</strong>
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Dig. Dis. Sci. 31: 438-442, 1986.
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<strong>Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.</strong>
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<strong>Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur.</strong>
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Anad, F., Burn, J., Matthews, D., Cross, I., Davison, B. C. C., Mueller, R., Sands, M., Lillington, D. M., Eastham, E.
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Birtel, J., Eisenberger, T., Gliem, M., Muller, P. L., Herrmann, P., Betz, C., Zahnleiter, D., Neuhaus, C., Lenzner, S., Holz, F. G., Mangold, E., Bolz, H. J., Charbel Issa, P.
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<strong>Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.</strong>
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Sci. Rep. 8: 4824, 2018.
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Boyer, J., Crosnier, C., Driancourt, C., Raynaud, N., Gonzales, M., Hadchouel, M., Meunier-Rotival, M.
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<strong>Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.</strong>
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Hum. Genet. 116: 445-453, 2005.
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[PubMed: 15772854]
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<p class="mim-text-font">
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Boyer-Di Ponio, J., Wright-Crosnier, C., Groyer-Picard, M.-T., Driancourt, C., Beau, I., Hadchouel, M., Meunier-Rotival, M.
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<strong>Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.</strong>
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Hum. Molec. Genet. 16: 2683-2692, 2007.
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[PubMed: 17720887]
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Bucuvalas, J. C., Horn, J. A., Carlsson, L., Balistreri, W. F., Chernausek, S. D.
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<strong>Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature.</strong>
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J. Clin. Endocr. Metab. 76: 1477-1482, 1993.
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[PubMed: 8501153]
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[Full Text: https://doi.org/10.1210/jcem.76.6.8501153]
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Byrne, J. L. B., Harrod, M. J. E., Friedman, J. M., Howard-Peebles, P. N.
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<strong>del(20p) with manifestations of arteriohepatic dysplasia.</strong>
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Am. J. Med. Genet. 24: 673-678, 1986.
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[PubMed: 3740100]
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<p class="mim-text-font">
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Dahms, B. B., Petrelli, M., Wyllie, R., Henoch, M. S., Halpin, T. C., Morrison, S., Park, M. C., Tavill, A. S.
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<strong>Arteriohepatic dysplasia in infancy and childhood: a longitudinal study of six patients.</strong>
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[PubMed: 7076119]
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[Full Text: https://doi.org/10.1002/hep.1840020311]
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<p class="mim-text-font">
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Danks, D. M., Campbell, P. E., Jack, I., Rogers, J., Smith, A. L.
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<strong>Studies of the aetiology of neonatal hepatitis and biliary atresia.</strong>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 03/02/2022<br>Ada Hamosh - updated : 09/10/2018<br>Cassandra L. Kniffin - updated : 1/30/2014<br>Cassandra L. Kniffin - updated : 11/1/2012<br>Cassandra L. Kniffin - updated : 2/9/2012<br>Cassandra L. Kniffin - updated : 6/3/2010<br>Patricia A. Hartz - updated : 10/22/2009<br>Marla J. F. O'Neill - updated : 10/27/2008<br>Anne M. Stumpf - reorganized : 10/17/2008<br>Victor A. McKusick - updated : 6/16/2006<br>Marla J. F. O'Neill - updated : 1/11/2006<br>Marla J. F. O'Neill - updated : 6/23/2004<br>Natalie E. Krasikov - updated : 3/30/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Deborah L. Stone - updated : 4/22/2003<br>Deborah L. Stone - updated : 3/26/2003<br>Victor A. McKusick - updated : 10/7/2002<br>Paul Brennan - updated : 3/20/2002<br>Michael B. Petersen - updated : 8/21/2001<br>Victor A. McKusick - updated : 8/7/2000<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 3/11/1999<br>Victor A. McKusick - updated : 9/17/1998<br>Victor A. McKusick - updated : 7/3/1997<br>Iosif W. Lurie - updated : 3/6/1997<br>Iosif W. Lurie - updated : 8/11/1996
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Victor A. McKusick : 6/4/1986
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carol : 06/13/2024<br>carol : 03/17/2022<br>carol : 03/03/2022<br>alopez : 03/02/2022<br>alopez : 09/10/2018<br>mgross : 01/30/2014<br>ckniffin : 1/30/2014<br>carol : 9/18/2013<br>carol : 8/28/2013<br>carol : 8/27/2013<br>terry : 3/28/2013<br>carol : 11/7/2012<br>ckniffin : 11/1/2012<br>alopez : 10/25/2012<br>carol : 2/21/2012<br>ckniffin : 2/9/2012<br>carol : 12/19/2011<br>carol : 8/13/2010<br>wwang : 6/8/2010<br>ckniffin : 6/3/2010<br>carol : 4/5/2010<br>mgross : 10/22/2009<br>wwang : 11/3/2008<br>terry : 10/27/2008<br>alopez : 10/20/2008<br>alopez : 10/17/2008<br>carol : 8/16/2006<br>alopez : 6/22/2006<br>terry : 6/16/2006<br>wwang : 1/11/2006<br>terry : 1/11/2006<br>wwang : 6/2/2005<br>carol : 6/30/2004<br>carol : 6/30/2004<br>terry : 6/23/2004<br>carol : 4/8/2004<br>terry : 3/30/2004<br>carol : 2/19/2004<br>terry : 2/19/2004<br>carol : 4/22/2003<br>carol : 3/26/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 3/21/2003<br>tkritzer : 10/9/2002<br>tkritzer : 10/8/2002<br>terry : 10/7/2002<br>alopez : 3/20/2002<br>terry : 11/15/2001<br>cwells : 8/23/2001<br>cwells : 8/21/2001<br>carol : 8/7/2000<br>carol : 11/24/1999<br>jlewis : 6/15/1999<br>jlewis : 6/9/1999<br>terry : 6/2/1999<br>terry : 4/30/1999<br>carol : 3/15/1999<br>terry : 3/11/1999<br>carol : 9/21/1998<br>terry : 9/17/1998<br>mark : 7/7/1997<br>terry : 7/3/1997<br>mark : 3/6/1997<br>terry : 3/5/1997<br>terry : 9/20/1996<br>mark : 9/10/1996<br>terry : 9/4/1996<br>carol : 8/11/1996<br>mark : 5/2/1996<br>terry : 4/22/1996<br>mark : 7/7/1995<br>carol : 1/6/1995<br>terry : 8/26/1994<br>jason : 7/27/1994<br>mimadm : 6/25/1994<br>carol : 10/21/1993
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