3226 lines
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Entry
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- *606941 - ALG9 ALPHA-1,2-MANNOSYLTRANSFERASE; ALG9
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- OMIM
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<p>
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<span class="h4">*606941</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606941">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<h4 class="panel-title">
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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 id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000086848;t=ENST00000616540" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=79796" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606941" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000086848;t=ENST00000616540" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001077690,NM_001077691,NM_001077692,NM_001352409,NM_001352410,NM_001352411,NM_001352412,NM_001352413,NM_001352414,NM_001352415,NM_001352416,NM_001352417,NM_001352418,NM_001352419,NM_001352420,NM_001352421,NM_001352422,NM_001352423,NM_024740,NR_147984,XM_005277723,XM_006718913,XM_017018314,XM_024448695,XM_047427609,XR_001747967,XR_001747968,XR_001747974,XR_001747977,XR_007062503,XR_007062504" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_024740" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606941" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=09504&isoform_id=09504_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ALG9" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/10438034,12053349,14328092,16551378,33187683,47077849,73921666,118026921,118026933,118026935,118026937,119587556,119587557,119587558,119587559,119587561,119587562,119587563,194385078,530432777,578822393,957951571,957951574,1034575471,1205914825,1205914830,1205914840,1205914842,1205914844,1205914849,1205914851,1205914859,1205914878,1205914914,1205914916,1205914926,1205914928,1205914934,1205914936,1370460215,2217284727,2462527662,2462527666,2462527668,2462527671,2462527676" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9H6U8" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=79796" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000086848;t=ENST00000616540" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG9" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ALG9" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+79796" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ALG9" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:79796" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/79796" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000822975.1&hgg_start=111768025&hgg_end=111871581&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="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="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:15672" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606941[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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606941[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000086848" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ALG9" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ALG9" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ALG9" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.euroglycanet.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ALG9&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134887582" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:15672" 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="https://flybase.org/reports/FBgn0039293.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1924753" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ALG9#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1924753" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/79796/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=79796" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00007556;class=Gene" 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'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1270" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79796" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ALG9&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 720978005<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="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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606941
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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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ALG9 ALPHA-1,2-MANNOSYLTRANSFERASE; ALG9
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ALG9, S. CEREVISIAE, HOMOLOG OF<br />
|
|
DISRUPTED IN BIPOLAR DISORDER 1; DIBD1
|
|
</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="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ALG9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALG9</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/924?start=-3&limit=10&highlight=924">11q23.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:111768025-111871581&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:111,768,025-111,871,581</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=608776,263210" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/924?start=-3&limit=10&highlight=924">
|
|
11q23.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of glycosylation, type Il
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/608776"> 608776 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</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>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Gillessen-Kaesbach-Nishimura syndrome
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/263210"> 263210 </a>
|
|
|
|
</span>
|
|
</td>
|
|
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<p>The ALG9 gene encodes an alpha-1,2-mannosyltransferase that catalyzes 2 steps in the lipid-linked precursor oligosaccharide (LLO) in the N-linked pathway of glycosylation (summary by <a href="#8" class="mim-tip-reference" title="Tham, E., Eklund, E. A., Hammarsjo, A., Bengtson, P., Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albage, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G., Grigelioniene, G. <strong>A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.</strong> Europ. J. Hum. Genet. 24: 198-207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966638[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.2015.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966638">Tham et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25966638" 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="#4" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D. <strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong> Neurogenetics 4: 43-53, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030331</a>] [<a href="https://doi.org/10.1007/s10048-001-0129-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030331">Baysal et al. (2002)</a> identified the DIBD1 gene while investigating the breakpoint junctions of a balanced chromosomal translocation, t(9;11)(p24;q23), that was identified in 6 members of a family with bipolar affective disorder (BPAD; see <a href="/entry/125480">125480</a>) or recurrent unipolar depression (<a href="#4" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D. <strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong> Neurogenetics 4: 43-53, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030331</a>] [<a href="https://doi.org/10.1007/s10048-001-0129-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030331">Baysal et al., 2002</a>; <a href="#7" class="mim-tip-reference" title="Smith, M., Wasmuth, J., McPherson, J. D., Wagner, C., Grandy, D., Civelli, O., Potkin, S., Litt, M. <strong>Cosegregation of an 11q22.3-9p22 translocation with affective disorder: proximity of the dopamine D2 receptor gene relative to the translocation breakpoint. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A220 only, 1989."None>Smith et al., 1989</a>). The predicted 611-amino acid DIBD1 protein is a mannosyltransferase similar to the S. cerevisiae Alg9 protein of the N-glycosylation pathway and contains 8 transmembrane helices. Northern blot analysis detected expression of DIBD1 in all tissues tested, with highest expression in heart, liver, and pancreas. The most abundant transcript was 2.5 kb, although 0.25-, 5.5-, and 7.0-kb transcripts were also observed. In subregions of the brain, the 2.5- and 7.0-kb transcripts were expressed ubiquitously. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D. <strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong> Neurogenetics 4: 43-53, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030331</a>] [<a href="https://doi.org/10.1007/s10048-001-0129-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030331">Baysal et al. (2002)</a> determined that the ALG9 gene has 15 exons and spans 85 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D. <strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong> Neurogenetics 4: 43-53, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030331</a>] [<a href="https://doi.org/10.1007/s10048-001-0129-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030331">Baysal et al. (2002)</a> mapped the ALG9 gene to chromosome 11q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using an intragenic polymorphism and other markers, <a href="#4" class="mim-tip-reference" title="Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D. <strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong> Neurogenetics 4: 43-53, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030331</a>] [<a href="https://doi.org/10.1007/s10048-001-0129-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030331">Baysal et al. (2002)</a> performed linkage and linkage disequilibrium analyses in 2 National Institute of Mental Health bipolar pedigree series and found no support for a role of DIBD1 in disease susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030331" 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>Congenital Disorder of Glycosylation Type Il</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Frank, C. G., Grubenmann, C. E., Eyaid, W., Berger, E. G., Aebi, M., Hennet, T. <strong>Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.</strong> Am. J. Hum. Genet. 75: 146-150, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15148656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15148656</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15148656[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/10.1086/422367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15148656">Frank et al. (2004)</a> reported a female patient with a novel type of CDG I (CDG1L; <a href="/entry/608776">608776</a>). The authors detected a homozygous missense mutation (E523K; <a href="#0001">606941.0001</a>) in the ALG9 gene. A yeast complementation assay lacking the ALG9 gene confirmed the deleterious effect of the E523K mutation as well as the functional homology between the human and Saccharomyces cerevisiae ALG9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15148656" 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="Weinstein, M., Schollen, E., Matthijs, G., Neupert, C., Hennet, T., Grubenmann, C. E., Frank, C. G., Aebi, M., Clarke, J. T. R., Griffiths, A., Seargeant, L., Poplawski, N. <strong>CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.</strong> Am. J. Med. Genet. 136A: 194-197, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15945070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15945070</a>] [<a href="https://doi.org/10.1002/ajmg.a.30851" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15945070">Weinstein et al. (2005)</a> reported a female infant with CDG Il in whom they identified homozygosity for a missense mutation in the ALG9 gene (Y286C; <a href="#0002">606941.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15945070" 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 4 affected members of a large consanguineous Saudi Arabian family with CDG1L, <a href="#1" class="mim-tip-reference" title="AlSubhi, S., AlHashem, A., AlAzami, A., Tlili, K., AlShahwan, S., Lefeber, D., Alkuraya, F. S., Tabarki, B. <strong>Further delineation of the ALG9-CDG phenotype.</strong> JIMD Rep. 27: 107-112, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26453364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26453364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26453364[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/10.1007/8904_2015_504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26453364">AlSubhi et al. (2016)</a> identified a homozygous missense mutation in the ALG9 gene (E359K; <a href="#0004">606941.0004</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed, but patient cells showed hypoglycosylation of serum transferrin, consistent with CDG type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26453364" 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 2 unrelated patients with CDG1L, <a href="#6" class="mim-tip-reference" title="Himmelreich, N., Dimitrov, B., Zielonka, M., Hullen, A., Hoffmann, G. F., Juenger, H., Muller, H., Lorenz, I., Busse, B., Marschall, C., Schluter, G., Thiel, C. <strong>Missense variant c.1460 T-C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.</strong> Molec. Genet. Metab. 136: 274-281, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35839600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35839600</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35839600">Himmelreich et al. (2022)</a> identified the same homozygous missense mutation in the ALG9 gene (L487P; <a href="#0005">606941.0005</a>). In patient 1 the mutation was identified by Sanger sequencing of the ALG9 gene, and in patient 2 it was identified by sequencing of a panel of genes underlying congenital disorders of glycosylation. ALG9 protein expression was reduced in fibroblasts from patient 1 compared to controls. Treatment of the fibroblasts with cycloheximide, followed by Western blot analysis, demonstrated that the reduced expression in patient cells was due to protein instability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35839600" 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>Gillessen-Kaesbach-Nishimura Syndrome</em></strong></p><p>
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In a stillborn girl and 2 fetuses from 2 unrelated consanguineous families with Gillessen-Kaesbach-Nishimura syndrome (GIKANIS; <a href="/entry/263210">263210</a>), <a href="#8" class="mim-tip-reference" title="Tham, E., Eklund, E. A., Hammarsjo, A., Bengtson, P., Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albage, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G., Grigelioniene, G. <strong>A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.</strong> Europ. J. Hum. Genet. 24: 198-207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966638[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.2015.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966638">Tham et al. (2016)</a> identified a homozygous truncating mutation in the ALG9 gene (<a href="#0003">606941.0003</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Haplotype analysis suggested a founder effect. The 2 fetuses from the second family were also homozygous for a rare missense variant (D968H) affecting a highly conserved residue in the ANK3 gene (<a href="/entry/600465">600465</a>); mutation in the ANK3 gene is associated with autosomal recessive mental retardation-37 (MRT37; <a href="/entry/615493">615493</a>). The parents were heterozygous carriers of the ANK3 variant. <a href="#8" class="mim-tip-reference" title="Tham, E., Eklund, E. A., Hammarsjo, A., Bengtson, P., Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albage, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G., Grigelioniene, G. <strong>A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.</strong> Europ. J. Hum. Genet. 24: 198-207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966638[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.2015.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966638">Tham et al. (2016)</a> suggested that the more severe phenotype in these patients compared to those with CDG1L resulted from the truncating mutation, which was predicted to result in a complete loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25966638" 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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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606941[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908022 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908022;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908022?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#5" class="mim-tip-reference" title="Frank, C. G., Grubenmann, C. E., Eyaid, W., Berger, E. G., Aebi, M., Hennet, T. <strong>Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.</strong> Am. J. Hum. Genet. 75: 146-150, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15148656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15148656</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15148656[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/10.1086/422367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15148656">Frank et al. (2004)</a> described a novel type of congenital disorder of glycosylation (CDG1L; <a href="/entry/608776">608776</a>) in a female infant born at term as a twin with a birth weight of 2.75 kg, length of 44 cm, and head circumference of 31.5 cm. As she grew older, her clinical features included severe microcephaly, central hypotonia, seizures, hepatomegaly, developmental delay, and bronchial asthma. This pattern of clinical presentation was compatible with CDG, a diagnosis confirmed by isoelectric focusing analysis of serum transferrin. The patient's sample showed an increase of disialo- and asialo-transferrin, indicative of CDG I. Normal values of phosphomannomutase activity excluded the most frequent form of CDG, type Ia (<a href="/entry/212065">212065</a>). The accumulation of 2 lipid-linked oligosaccharides (LLOs) suggested a possible defect at the level of alpha-1,2-mannosyltransferase, which, in yeast, catalyzes the addition of the seventh and ninth mannose residues on growing LLOs. In the patient, ALG9 cDNA was found to carry the point mutation 1567G-A, which caused the amino acid change glu523-to-lys (E523K) in the ALG9 protein. The mutation was also detected at the genomic level by sequencing exon 14 of the patient's ALG9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15148656" 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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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908023 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908023;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908023?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003947 OR RCV004754239 OR RCV005041978" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003947, RCV004754239, RCV005041978" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003947...</a>
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<p>In a female infant with congenital disorder of glycosylation type Il (CDG1L; <a href="/entry/608776">608776</a>), <a href="#9" class="mim-tip-reference" title="Weinstein, M., Schollen, E., Matthijs, G., Neupert, C., Hennet, T., Grubenmann, C. E., Frank, C. G., Aebi, M., Clarke, J. T. R., Griffiths, A., Seargeant, L., Poplawski, N. <strong>CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.</strong> Am. J. Med. Genet. 136A: 194-197, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15945070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15945070</a>] [<a href="https://doi.org/10.1002/ajmg.a.30851" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15945070">Weinstein et al. (2005)</a> identified homozygosity for an 860A-G transition in the ALG9 gene, resulting in a tyr286-to-cys (Y286C) substitution. The parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15945070" 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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<strong>.0003 GILLESSEN-KAESBACH-NISHIMURA SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786205134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205134;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786205134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs786205134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000170339 OR RCV000211586 OR RCV003390836" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170339, RCV000211586, RCV003390836" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170339...</a>
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<p>In a stillborn girl and 2 fetuses from 2 unrelated consanguineous families with Gillessen-Kaesbach-Nishimura syndrome (GIKANIS; <a href="/entry/263210">263210</a>), <a href="#8" class="mim-tip-reference" title="Tham, E., Eklund, E. A., Hammarsjo, A., Bengtson, P., Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albage, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G., Grigelioniene, G. <strong>A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.</strong> Europ. J. Hum. Genet. 24: 198-207, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966638[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.2015.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966638">Tham et al. (2016)</a> identified a homozygous T-to-A transversion (c.1173+2T-A, NM_024740.2) in the splice donor site of exon 10 of the ALG9 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families and was not found in the ExAC database or in 249 control exomes. Analysis of patient cells showed that the mutation caused the skipping of exon 10, resulting in a frameshift and premature termination (Val340AlafsTer57). Haplotype analysis around the ALG9 gene in the 2 families suggested a founder effect. In addition to a skeletal dysplasia and polycystic kidney disease, spleen tissue showed a transferrin (<a href="/entry/190000">190000</a>) glycosylation defect. The 2 fetuses from the second family were also homozygous for a rare missense variant (D968H) affecting a highly conserved residue in the ANK3 gene (<a href="/entry/600465">600465</a>); mutation in the ANK3 gene is associated with autosomal recessive mental retardation-37 (MRT37; <a href="/entry/615493">615493</a>). The parents were heterozygous carriers of the ANK3 variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25966638" 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 4 affected members of a large consanguineous Saudi Arabian family with congenital disorder of glycosylation (CDG1L; <a href="/entry/608776">608776</a>), <a href="#1" class="mim-tip-reference" title="AlSubhi, S., AlHashem, A., AlAzami, A., Tlili, K., AlShahwan, S., Lefeber, D., Alkuraya, F. S., Tabarki, B. <strong>Further delineation of the ALG9-CDG phenotype.</strong> JIMD Rep. 27: 107-112, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26453364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26453364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26453364[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/10.1007/8904_2015_504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26453364">AlSubhi et al. (2016)</a> identified a homozygous c.1558G-A transition (c.1075G-A, NM_024740.2) in the ALG9 gene, resulting in a glu530-to-lys (E359K) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed, but patient cells showed hypoglycosylation of serum transferrin consistent with type I CDG. (In the article by <a href="#1" class="mim-tip-reference" title="AlSubhi, S., AlHashem, A., AlAzami, A., Tlili, K., AlShahwan, S., Lefeber, D., Alkuraya, F. S., Tabarki, B. <strong>Further delineation of the ALG9-CDG phenotype.</strong> JIMD Rep. 27: 107-112, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26453364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26453364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26453364[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/10.1007/8904_2015_504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26453364">AlSubhi et al. (2016)</a>, the mutation is described as c.1558G-A, E530K in the text and Table 1, but as c.1075G-A, E359K in the abstract. <a href="#2" class="mim-tip-reference" title="AlSubhi, S. <strong>Personal Communication.</strong> Riyadh, Saudi Arabia 2/1/2018."None>AlSubhi (2018)</a> confirmed that the correct mutation is c.1075G-A, E359K.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26453364" 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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<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2136827755 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136827755;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2136827755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2136827755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002271979" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002271979" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002271979</a>
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<p>In 2 unrelated patients with congenital disorder of glycosylation (CDG1L; <a href="/entry/608776">608776</a>), <a href="#6" class="mim-tip-reference" title="Himmelreich, N., Dimitrov, B., Zielonka, M., Hullen, A., Hoffmann, G. F., Juenger, H., Muller, H., Lorenz, I., Busse, B., Marschall, C., Schluter, G., Thiel, C. <strong>Missense variant c.1460 T-C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.</strong> Molec. Genet. Metab. 136: 274-281, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35839600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35839600</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35839600">Himmelreich et al. (2022)</a> identified homozygosity for a c.1460T-C transition (c.1460T-C, NM_024740.2) in exon 12 of the ALG9 gene, resulting in a leu487-to-pro (L487P) substitution. In patient 1 the mutation was identified by Sanger sequencing of the ALG9 gene, and in patient 2 the mutation was identified by sequencing of a panel of genes underlying congenital disorders of glycosylation. The mutation was not present in the gnomAD database. ALG9 protein expression was reduced in fibroblasts from patient 1 compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35839600" 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="#Baysal1998" class="mim-tip-reference" title="Baysal, B. E., Potkin, S. G., Farr, J. E., Higgins, M. J., Korcz, J., Gollin, S. M., James, M. R., Evans, G. A., Richard, C. W., III. <strong>Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.</strong> Am. J. Med. Genet. 81: 81-91, 1998.">Baysal et al. (1998)</a>
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AlSubhi, S., AlHashem, A., AlAzami, A., Tlili, K., AlShahwan, S., Lefeber, D., Alkuraya, F. S., Tabarki, B.
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<strong>Further delineation of the ALG9-CDG phenotype.</strong>
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JIMD Rep. 27: 107-112, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26453364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26453364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26453364[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=26453364" 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/10.1007/8904_2015_504" target="_blank">Full Text</a>]
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AlSubhi, S.
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<strong>Personal Communication.</strong>
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Riyadh, Saudi Arabia 2/1/2018.
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Baysal, B. E., Potkin, S. G., Farr, J. E., Higgins, M. J., Korcz, J., Gollin, S. M., James, M. R., Evans, G. A., Richard, C. W., III.
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<strong>Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.</strong>
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Am. J. Med. Genet. 81: 81-91, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9514593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9514593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9514593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D.
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<strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong>
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Neurogenetics 4: 43-53, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030331" 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/s10048-001-0129-x" target="_blank">Full Text</a>]
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Frank, C. G., Grubenmann, C. E., Eyaid, W., Berger, E. G., Aebi, M., Hennet, T.
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<strong>Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.</strong>
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Am. J. Hum. Genet. 75: 146-150, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15148656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15148656</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15148656[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=15148656" 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/10.1086/422367" target="_blank">Full Text</a>]
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Himmelreich, N., Dimitrov, B., Zielonka, M., Hullen, A., Hoffmann, G. F., Juenger, H., Muller, H., Lorenz, I., Busse, B., Marschall, C., Schluter, G., Thiel, C.
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<strong>Missense variant c.1460 T-C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.</strong>
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Molec. Genet. Metab. 136: 274-281, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35839600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35839600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35839600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2022.06.005" target="_blank">Full Text</a>]
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Smith, M., Wasmuth, J., McPherson, J. D., Wagner, C., Grandy, D., Civelli, O., Potkin, S., Litt, M.
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<strong>Cosegregation of an 11q22.3-9p22 translocation with affective disorder: proximity of the dopamine D2 receptor gene relative to the translocation breakpoint. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A220 only, 1989.
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Tham, E., Eklund, E. A., Hammarsjo, A., Bengtson, P., Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albage, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G., Grigelioniene, G.
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<strong>A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.</strong>
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Europ. J. Hum. Genet. 24: 198-207, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966638</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966638[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=25966638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2015.91" target="_blank">Full Text</a>]
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Weinstein, M., Schollen, E., Matthijs, G., Neupert, C., Hennet, T., Grubenmann, C. E., Frank, C. G., Aebi, M., Clarke, J. T. R., Griffiths, A., Seargeant, L., Poplawski, N.
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<strong>CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.</strong>
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Am. J. Med. Genet. 136A: 194-197, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15945070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15945070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15945070" 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/10.1002/ajmg.a.30851" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 10/03/2022
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 01/26/2018<br>Cassandra L. Kniffin - updated : 5/18/2016<br>Marla J. F. O'Neill - updated : 12/28/2005<br>Victor A. McKusick - updated : 6/30/2004
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/14/2002
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 10/04/2022
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carol : 10/03/2022<br>carol : 01/02/2020<br>carol : 02/01/2018<br>carol : 02/01/2018<br>carol : 01/31/2018<br>ckniffin : 01/26/2018<br>carol : 03/27/2017<br>alopez : 05/19/2016<br>alopez : 5/19/2016<br>ckniffin : 5/18/2016<br>carol : 6/26/2007<br>wwang : 12/29/2005<br>terry : 12/28/2005<br>alopez : 10/25/2005<br>alopez : 7/2/2004<br>terry : 6/30/2004<br>carol : 4/23/2003<br>tkritzer : 9/4/2002<br>mgross : 5/14/2002
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606941
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<h3>
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ALG9 ALPHA-1,2-MANNOSYLTRANSFERASE; ALG9
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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ALG9, S. CEREVISIAE, HOMOLOG OF<br />
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DISRUPTED IN BIPOLAR DISORDER 1; DIBD1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ALG9</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 720978005;
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<strong>
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<em>
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Cytogenetic location: 11q23.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:111,768,025-111,871,581 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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</th>
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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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<span class="mim-font">
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11q23.1
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<span class="mim-font">
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Congenital disorder of glycosylation, type Il
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<span class="mim-font">
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608776
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Autosomal recessive
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<span class="mim-font">
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3
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Gillessen-Kaesbach-Nishimura syndrome
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<span class="mim-font">
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263210
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>The ALG9 gene encodes an alpha-1,2-mannosyltransferase that catalyzes 2 steps in the lipid-linked precursor oligosaccharide (LLO) in the N-linked pathway of glycosylation (summary by Tham et al., 2016). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Baysal et al. (2002) identified the DIBD1 gene while investigating the breakpoint junctions of a balanced chromosomal translocation, t(9;11)(p24;q23), that was identified in 6 members of a family with bipolar affective disorder (BPAD; see 125480) or recurrent unipolar depression (Baysal et al., 2002; Smith et al., 1989). The predicted 611-amino acid DIBD1 protein is a mannosyltransferase similar to the S. cerevisiae Alg9 protein of the N-glycosylation pathway and contains 8 transmembrane helices. Northern blot analysis detected expression of DIBD1 in all tissues tested, with highest expression in heart, liver, and pancreas. The most abundant transcript was 2.5 kb, although 0.25-, 5.5-, and 7.0-kb transcripts were also observed. In subregions of the brain, the 2.5- and 7.0-kb transcripts were expressed ubiquitously. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Baysal et al. (2002) determined that the ALG9 gene has 15 exons and spans 85 kb. </p>
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<div>
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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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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Baysal et al. (2002) mapped the ALG9 gene to chromosome 11q23. </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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using an intragenic polymorphism and other markers, Baysal et al. (2002) performed linkage and linkage disequilibrium analyses in 2 National Institute of Mental Health bipolar pedigree series and found no support for a role of DIBD1 in disease susceptibility. </p><p><strong><em>Congenital Disorder of Glycosylation Type Il</em></strong></p><p>
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Frank et al. (2004) reported a female patient with a novel type of CDG I (CDG1L; 608776). The authors detected a homozygous missense mutation (E523K; 606941.0001) in the ALG9 gene. A yeast complementation assay lacking the ALG9 gene confirmed the deleterious effect of the E523K mutation as well as the functional homology between the human and Saccharomyces cerevisiae ALG9. </p><p>Weinstein et al. (2005) reported a female infant with CDG Il in whom they identified homozygosity for a missense mutation in the ALG9 gene (Y286C; 606941.0002). </p><p>In 4 affected members of a large consanguineous Saudi Arabian family with CDG1L, AlSubhi et al. (2016) identified a homozygous missense mutation in the ALG9 gene (E359K; 606941.0004). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed, but patient cells showed hypoglycosylation of serum transferrin, consistent with CDG type I. </p><p>In 2 unrelated patients with CDG1L, Himmelreich et al. (2022) identified the same homozygous missense mutation in the ALG9 gene (L487P; 606941.0005). In patient 1 the mutation was identified by Sanger sequencing of the ALG9 gene, and in patient 2 it was identified by sequencing of a panel of genes underlying congenital disorders of glycosylation. ALG9 protein expression was reduced in fibroblasts from patient 1 compared to controls. Treatment of the fibroblasts with cycloheximide, followed by Western blot analysis, demonstrated that the reduced expression in patient cells was due to protein instability. </p><p><strong><em>Gillessen-Kaesbach-Nishimura Syndrome</em></strong></p><p>
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In a stillborn girl and 2 fetuses from 2 unrelated consanguineous families with Gillessen-Kaesbach-Nishimura syndrome (GIKANIS; 263210), Tham et al. (2016) identified a homozygous truncating mutation in the ALG9 gene (606941.0003). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Haplotype analysis suggested a founder effect. The 2 fetuses from the second family were also homozygous for a rare missense variant (D968H) affecting a highly conserved residue in the ANK3 gene (600465); mutation in the ANK3 gene is associated with autosomal recessive mental retardation-37 (MRT37; 615493). The parents were heterozygous carriers of the ANK3 variant. Tham et al. (2016) suggested that the more severe phenotype in these patients compared to those with CDG1L resulted from the truncating mutation, which was predicted to result in a complete loss of function. </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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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ALG9, GLU523LYS
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<br />
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SNP: rs121908022,
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gnomAD: rs121908022,
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ClinVar: RCV000003946
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Frank et al. (2004) described a novel type of congenital disorder of glycosylation (CDG1L; 608776) in a female infant born at term as a twin with a birth weight of 2.75 kg, length of 44 cm, and head circumference of 31.5 cm. As she grew older, her clinical features included severe microcephaly, central hypotonia, seizures, hepatomegaly, developmental delay, and bronchial asthma. This pattern of clinical presentation was compatible with CDG, a diagnosis confirmed by isoelectric focusing analysis of serum transferrin. The patient's sample showed an increase of disialo- and asialo-transferrin, indicative of CDG I. Normal values of phosphomannomutase activity excluded the most frequent form of CDG, type Ia (212065). The accumulation of 2 lipid-linked oligosaccharides (LLOs) suggested a possible defect at the level of alpha-1,2-mannosyltransferase, which, in yeast, catalyzes the addition of the seventh and ninth mannose residues on growing LLOs. In the patient, ALG9 cDNA was found to carry the point mutation 1567G-A, which caused the amino acid change glu523-to-lys (E523K) in the ALG9 protein. The mutation was also detected at the genomic level by sequencing exon 14 of the patient's ALG9 gene. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ALG9, TYR286CYS
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<br />
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SNP: rs121908023,
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gnomAD: rs121908023,
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ClinVar: RCV000003947, RCV004754239, RCV005041978
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female infant with congenital disorder of glycosylation type Il (CDG1L; 608776), Weinstein et al. (2005) identified homozygosity for an 860A-G transition in the ALG9 gene, resulting in a tyr286-to-cys (Y286C) substitution. The parents were heterozygous for the mutation. </p>
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</span>
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<div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 GILLESSEN-KAESBACH-NISHIMURA SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ALG9, IVS10DS, T-A, +2
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<br />
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SNP: rs786205134,
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ClinVar: RCV000170339, RCV000211586, RCV003390836
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a stillborn girl and 2 fetuses from 2 unrelated consanguineous families with Gillessen-Kaesbach-Nishimura syndrome (GIKANIS; 263210), Tham et al. (2016) identified a homozygous T-to-A transversion (c.1173+2T-A, NM_024740.2) in the splice donor site of exon 10 of the ALG9 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families and was not found in the ExAC database or in 249 control exomes. Analysis of patient cells showed that the mutation caused the skipping of exon 10, resulting in a frameshift and premature termination (Val340AlafsTer57). Haplotype analysis around the ALG9 gene in the 2 families suggested a founder effect. In addition to a skeletal dysplasia and polycystic kidney disease, spleen tissue showed a transferrin (190000) glycosylation defect. The 2 fetuses from the second family were also homozygous for a rare missense variant (D968H) affecting a highly conserved residue in the ANK3 gene (600465); mutation in the ANK3 gene is associated with autosomal recessive mental retardation-37 (MRT37; 615493). The parents were heterozygous carriers of the ANK3 variant. </p>
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</span>
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<div>
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<br />
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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ALG9, GLU359LYS
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ClinVar: RCV000578187
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<p>In 4 affected members of a large consanguineous Saudi Arabian family with congenital disorder of glycosylation (CDG1L; 608776), AlSubhi et al. (2016) identified a homozygous c.1558G-A transition (c.1075G-A, NM_024740.2) in the ALG9 gene, resulting in a glu530-to-lys (E359K) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed, but patient cells showed hypoglycosylation of serum transferrin consistent with type I CDG. (In the article by AlSubhi et al. (2016), the mutation is described as c.1558G-A, E530K in the text and Table 1, but as c.1075G-A, E359K in the abstract. AlSubhi (2018) confirmed that the correct mutation is c.1075G-A, E359K.) </p>
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<span class="mim-font">
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<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il</strong>
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ALG9, LEU487PRO
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SNP: rs2136827755,
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ClinVar: RCV002271979
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<p>In 2 unrelated patients with congenital disorder of glycosylation (CDG1L; 608776), Himmelreich et al. (2022) identified homozygosity for a c.1460T-C transition (c.1460T-C, NM_024740.2) in exon 12 of the ALG9 gene, resulting in a leu487-to-pro (L487P) substitution. In patient 1 the mutation was identified by Sanger sequencing of the ALG9 gene, and in patient 2 the mutation was identified by sequencing of a panel of genes underlying congenital disorders of glycosylation. The mutation was not present in the gnomAD database. ALG9 protein expression was reduced in fibroblasts from patient 1 compared to controls. </p>
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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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Baysal et al. (1998)
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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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<li>
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<p class="mim-text-font">
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AlSubhi, S., AlHashem, A., AlAzami, A., Tlili, K., AlShahwan, S., Lefeber, D., Alkuraya, F. S., Tabarki, B.
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<strong>Further delineation of the ALG9-CDG phenotype.</strong>
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JIMD Rep. 27: 107-112, 2016.
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[PubMed: 26453364]
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[Full Text: https://doi.org/10.1007/8904_2015_504]
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AlSubhi, S.
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<strong>Personal Communication.</strong>
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Riyadh, Saudi Arabia 2/1/2018.
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</li>
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<li>
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<p class="mim-text-font">
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Baysal, B. E., Potkin, S. G., Farr, J. E., Higgins, M. J., Korcz, J., Gollin, S. M., James, M. R., Evans, G. A., Richard, C. W., III.
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<strong>Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.</strong>
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Am. J. Med. Genet. 81: 81-91, 1998.
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[PubMed: 9514593]
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<p class="mim-text-font">
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Baysal, B. E., Willett-Brozick, J. E., Badner, J. A., Corona, W., Ferrell, R. E., Nimgaonkar, V. L., Detera-Wadleigh, S. D.
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<strong>A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.</strong>
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Neurogenetics 4: 43-53, 2002.
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[PubMed: 12030331]
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[Full Text: https://doi.org/10.1007/s10048-001-0129-x]
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</li>
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<li>
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<p class="mim-text-font">
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Frank, C. G., Grubenmann, C. E., Eyaid, W., Berger, E. G., Aebi, M., Hennet, T.
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<strong>Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.</strong>
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Am. J. Hum. Genet. 75: 146-150, 2004.
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[PubMed: 15148656]
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[Full Text: https://doi.org/10.1086/422367]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Himmelreich, N., Dimitrov, B., Zielonka, M., Hullen, A., Hoffmann, G. F., Juenger, H., Muller, H., Lorenz, I., Busse, B., Marschall, C., Schluter, G., Thiel, C.
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<strong>Missense variant c.1460 T-C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.</strong>
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Molec. Genet. Metab. 136: 274-281, 2022.
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[PubMed: 35839600]
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[Full Text: https://doi.org/10.1016/j.ymgme.2022.06.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Smith, M., Wasmuth, J., McPherson, J. D., Wagner, C., Grandy, D., Civelli, O., Potkin, S., Litt, M.
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<strong>Cosegregation of an 11q22.3-9p22 translocation with affective disorder: proximity of the dopamine D2 receptor gene relative to the translocation breakpoint. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A220 only, 1989.
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<li>
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<p class="mim-text-font">
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Tham, E., Eklund, E. A., Hammarsjo, A., Bengtson, P., Geiberger, S., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Grigelionis, G., Conner, P., Lindgren, P., Lindstrand, A., Wedell, A., Albage, M., Zielinska, K., Nordgren, A., Papadogiannakis, N., Nishimura, G., Grigelioniene, G.
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<strong>A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.</strong>
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Europ. J. Hum. Genet. 24: 198-207, 2016.
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[PubMed: 25966638]
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[Full Text: https://doi.org/10.1038/ejhg.2015.91]
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<p class="mim-text-font">
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Weinstein, M., Schollen, E., Matthijs, G., Neupert, C., Hennet, T., Grubenmann, C. E., Frank, C. G., Aebi, M., Clarke, J. T. R., Griffiths, A., Seargeant, L., Poplawski, N.
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<strong>CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.</strong>
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Am. J. Med. Genet. 136A: 194-197, 2005.
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[PubMed: 15945070]
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[Full Text: https://doi.org/10.1002/ajmg.a.30851]
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Hilary J. Vernon - updated : 10/03/2022<br>Cassandra L. Kniffin - updated : 01/26/2018<br>Cassandra L. Kniffin - updated : 5/18/2016<br>Marla J. F. O'Neill - updated : 12/28/2005<br>Victor A. McKusick - updated : 6/30/2004
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Victor A. McKusick : 5/14/2002
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