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<title>
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Entry
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- #602485 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
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- OMIM
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<span class="h4">#602485</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/602485"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS256450"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL) OR (GCK)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11325&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1375/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3563" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602485[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79299" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070216" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/602485" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070216" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79299<br />
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<strong>DO:</strong> 0070216<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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602485
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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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HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<th>
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Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/230?start=-3&limit=10&highlight=230">
|
|
7p13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperinsulinemic hypoglycemia, familial, 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602485"> 602485 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GCK
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138079"> 138079 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
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|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/602485" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS256450" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/602485" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602485" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Loss of consciousness due to hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267384006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E15</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001325</a>]</span><br /> -
|
|
Seizures, hypoglycemic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877056</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002173" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002173</a>]</span><br /> -
|
|
Mental retardation due to repeated episodes of hypoglycemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864949</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Coma, hypoglycemic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267384006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E15</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001325</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hyperinsulinemic hypoglycemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864903&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864903</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000825" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000825</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000825" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000825</a>]</span><br /> -
|
|
Diabetes mellitus, insulin-dependent, late onset (uncommon) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865291&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865291</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46635009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46635009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E10</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypoglycemia, nonketotic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001958</a>]</span><br /> -
|
|
Hyperinsulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131103005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131103005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83469008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83469008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0852795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0852795</a>, <a href="https://bioportal.bioontology.org/search?q=C0020459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity (see HHF1 <a href="/entry/256450">256450</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the glucokinase gene (GCK, <a href="/entry/138079#0009">138079.0009</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hyperinsulinemia hypoglycemia
|
|
- <a href="/phenotypicSeries/PS256450">PS256450</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
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<strong>Location</strong>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/928?start=-3&limit=10&highlight=928"> 1p13.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610021"> Hyperinsulinemic hypoglycemia, familial, 7 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610021"> 610021 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600682"> SLC16A1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600682"> 600682 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/733?start=-3&limit=10&highlight=733"> 3q23 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620211"> Hyperinsulinemic hypoglycemia, familial, 8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620211"> 620211 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616149"> SLC25A36 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616149"> 616149 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/472?start=-3&limit=10&highlight=472"> 4q25 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609975"> Hyperinsulinemic hypoglycemia, familial, 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609975"> 609975 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601609"> HADH </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601609"> 601609 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/230?start=-3&limit=10&highlight=230"> 7p13 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602485"> Hyperinsulinemic hypoglycemia, familial, 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602485"> 602485 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/138079"> GCK </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/138079"> 138079 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/10/359?start=-3&limit=10&highlight=359"> 10q23.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606762"> Hyperinsulinism-hyperammonemia syndrome </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606762"> 606762 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/138130"> GLUD1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/138130"> 138130 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/208?start=-3&limit=10&highlight=208"> 11p15.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601820"> Hyperinsulinemic hypoglycemia, familial, 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601820"> 601820 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600937"> KCNJ11 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600937"> 600937 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/209?start=-3&limit=10&highlight=209"> 11p15.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/256450"> Hyperinsulinemic hypoglycemia, familial, 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/256450"> 256450 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600509"> ABCC8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600509"> 600509 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/202?start=-3&limit=10&highlight=202"> 19p13.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609968"> Hyperinsulinemic hypoglycemia, familial, 5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609968"> 609968 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/147670"> INSR </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/147670"> 147670 </a>
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</span>
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</td>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that familial hyperinsulinemic hypoglycemia-3 (HHF3) is caused by heterozygous mutation in the glucokinase gene (GCK; <a href="/entry/138079">138079</a>) on chromosome 7p13.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (<a href="/entry/256450">256450</a>).</p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#5" class="mim-tip-reference" title="Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A. <strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong> J. Pediat. 132: 9-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70477-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9469993">Thornton et al. (1998)</a> described 3 families with vertical transmission of hyperinsulinism of infancy, suggesting autosomal dominant inheritance. This form of the disorder appeared to be both phenotypically and genetically distinct from autosomal recessive persistent hyperinsulinemic hypoglycemia of infancy. <a href="#5" class="mim-tip-reference" title="Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A. <strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong> J. Pediat. 132: 9-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70477-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9469993">Thornton et al. (1998)</a> compared clinical features of 11 patients from these 3 apparent autosomal dominant inheritance pattern families with those of 14 patients with autosomal recessive hyperinsulinism investigated in the same hospital. The median age of onset was 1 year and 1 day, respectively; birth weight was 3.3 and 4.6 kg, respectively; and response to diet and diazoxide was observed in 10 of the autosomal dominant cases and none of the autosomal recessive cases. None of the mutations previously identified in the SUR1 gene were found in these families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9469993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cuesta-Munoz, A. L., Huopio, H., Otonkoski, T., Gomez-Zumaquero, J. M., Nanto-Salonen, K., Rahier, J., Lopez-Enriquez, S., Garcia-Gimeno, M. A., Sanz, P., Soriguer, F. C., Laakso, M. <strong>Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.</strong> Diabetes 53: 2164-2168, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277402</a>] [<a href="https://doi.org/10.2337/diabetes.53.8.2164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15277402">Cuesta-Munoz et al. (2004)</a> reported a Finnish woman who had hypoglycemic seizures from birth and inappropriate hyperinsulinemia. Despite a leucine-free diet, high-dose glucose infusion, hydrocortisone, and glucagon, hypoglycemia persisted. She underwent subtotal pancreatectomy at the age of 6 months with no resolution of hypoglycemia; treatment with diazoxide, which continued for 22 years, was also unsuccessful. She was severely mentally retarded, and had seizures until her death at age 29. Histologic analysis of the pancreatic specimens from age 6 months showed pancreatic islets that were 2.5-fold larger than those of controls, and 8- to 10-fold larger compared to those of hyperinsulinemic patients with focal or diffuse pancreatic lesions, respectively. <a href="#2" class="mim-tip-reference" title="Cuesta-Munoz, A. L., Huopio, H., Otonkoski, T., Gomez-Zumaquero, J. M., Nanto-Salonen, K., Rahier, J., Lopez-Enriquez, S., Garcia-Gimeno, M. A., Sanz, P., Soriguer, F. C., Laakso, M. <strong>Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.</strong> Diabetes 53: 2164-2168, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277402</a>] [<a href="https://doi.org/10.2337/diabetes.53.8.2164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15277402">Cuesta-Munoz et al. (2004)</a> noted that this phenotype was considerably more severe than that of previously reported patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15277402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of HHF3 in the family reported by <a href="#5" class="mim-tip-reference" title="Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A. <strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong> J. Pediat. 132: 9-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70477-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9469993">Thornton et al. (1998)</a> and studied by <a href="#3" class="mim-tip-reference" title="Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., Herold, K. C. <strong>Familial hyperinsulinism caused by an activating glucokinase mutation.</strong> New Eng. J. Med. 338: 226-230, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435328</a>] [<a href="https://doi.org/10.1056/NEJM199801223380404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435328">Glaser et al. (1998)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9469993+9435328" 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 'family 3' studied by <a href="#5" class="mim-tip-reference" title="Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A. <strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong> J. Pediat. 132: 9-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70477-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9469993">Thornton et al. (1998)</a>, <a href="#3" class="mim-tip-reference" title="Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., Herold, K. C. <strong>Familial hyperinsulinism caused by an activating glucokinase mutation.</strong> New Eng. J. Med. 338: 226-230, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435328</a>] [<a href="https://doi.org/10.1056/NEJM199801223380404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435328">Glaser et al. (1998)</a> identified a heterozygous activating mutation in the glucokinase gene (<a href="/entry/138079#0009">138079.0009</a>). The authors noted that age at onset and severity of symptoms varied markedly in this family, and the oldest affected family member developed diabetes mellitus later in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9469993+9435328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 14-year-old obese boy with a history of neonatal hypoglycemia treated with diazoxide, who was experiencing hypoglycemic episodes associated with seizures and unconsciousness, <a href="#1" class="mim-tip-reference" title="Christesen, H. B. T., Jacobsen, B. B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M. A., Shiota, C., Matschinsky, F., Barbetti, F. <strong>The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.</strong> Diabetes 51: 1240-1246, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916951</a>] [<a href="https://doi.org/10.2337/diabetes.51.4.1240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11916951">Christesen et al. (2002)</a> identified heterozygosity for an activating mutation in the GCK gene (<a href="/entry/138079#0012">138079.0012</a>). The boy's normal-weight mother, who had asymptomatic fasting hypoglycemia, carried the same mutation. <a href="#1" class="mim-tip-reference" title="Christesen, H. B. T., Jacobsen, B. B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M. A., Shiota, C., Matschinsky, F., Barbetti, F. <strong>The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.</strong> Diabetes 51: 1240-1246, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916951</a>] [<a href="https://doi.org/10.2337/diabetes.51.4.1240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11916951">Christesen et al. (2002)</a> noted the striking contrast in clinical presentation between the mother and son with the same mutation, and recalled a similar situation in the family reported by <a href="#3" class="mim-tip-reference" title="Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., Herold, K. C. <strong>Familial hyperinsulinism caused by an activating glucokinase mutation.</strong> New Eng. J. Med. 338: 226-230, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435328</a>] [<a href="https://doi.org/10.1056/NEJM199801223380404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435328">Glaser et al. (1998)</a>, in which the proband was obese and severely hyperinsulinemic, whereas his sister who carried the same mutation was of normal weight, had relatively low insulin levels, and milder clinical symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11916951+9435328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Finnish woman with severe hyperinsulinemic hypoglycemia from birth, <a href="#2" class="mim-tip-reference" title="Cuesta-Munoz, A. L., Huopio, H., Otonkoski, T., Gomez-Zumaquero, J. M., Nanto-Salonen, K., Rahier, J., Lopez-Enriquez, S., Garcia-Gimeno, M. A., Sanz, P., Soriguer, F. C., Laakso, M. <strong>Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.</strong> Diabetes 53: 2164-2168, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277402</a>] [<a href="https://doi.org/10.2337/diabetes.53.8.2164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15277402">Cuesta-Munoz et al. (2004)</a> identified heterozygosity for a de novo activating mutation in the GCK gene (<a href="/entry/138079#0013">138079.0013</a>). Although paternity was confirmed, the mutation was not found in her parents or her 2 healthy sisters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15277402" 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="Kassem, S., Bhandari, S., Rodriguez-Bada, P., Motaghedi, R., Heyman, M., Garcia-Gimeno, M. A., Cobo-Vuilleumier, N., Sanz, P., Maclaren, N. K., Rahier, J., Glaser, B., Cuesta-Munoz, A. L. <strong>Large islets, beta-cell proliferation, and a glucokinase mutation.</strong> New Eng. J. Med. 362: 1348-1350, 2010. Note: Erratum: New Eng. J. Med. 363: 2178 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20375417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20375417</a>] [<a href="https://doi.org/10.1056/NEJMc0909845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20375417">Kassem et al. (2010)</a> studied a young girl with severe neonatal hypoglycemia due to a missense mutation in the GCK gene (V91L; <a href="/entry/138079#0015">138079.0015</a>). Her father had a similar clinical course but neither his DNA nor pancreatic tissue was available for study. Diazoxide and octreotide therapy did not control the patient's hypoglycemia, and a subtotal pancreatectomy was performed at 3 years of age. Quantitative histologic examination revealed abnormally large islets, with some beta cells containing a large nucleus. The mean islet cell areas in both the head and the tail of the pancreas were significantly larger than those of 5 age-matched controls and those of 2 age-matched patients with diffuse hypoglycemia due to ABCC8 (<a href="/entry/600509">600509</a>) mutations (see HHF1, <a href="/entry/256450">256450</a>), with a relative beta-cell area of 2.9% in the head and 6.7% in the tail of the patient's pancreas, compared with 1.8% in the controls and 1.1% in the patients with ABCC8-related hypoglycemia. Noting a previously reported case in which quantitative histologic analysis showed a similar increase in the mean islet profile (<a href="#2" class="mim-tip-reference" title="Cuesta-Munoz, A. L., Huopio, H., Otonkoski, T., Gomez-Zumaquero, J. M., Nanto-Salonen, K., Rahier, J., Lopez-Enriquez, S., Garcia-Gimeno, M. A., Sanz, P., Soriguer, F. C., Laakso, M. <strong>Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.</strong> Diabetes 53: 2164-2168, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277402</a>] [<a href="https://doi.org/10.2337/diabetes.53.8.2164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15277402">Cuesta-Munoz et al., 2004</a>), <a href="#4" class="mim-tip-reference" title="Kassem, S., Bhandari, S., Rodriguez-Bada, P., Motaghedi, R., Heyman, M., Garcia-Gimeno, M. A., Cobo-Vuilleumier, N., Sanz, P., Maclaren, N. K., Rahier, J., Glaser, B., Cuesta-Munoz, A. L. <strong>Large islets, beta-cell proliferation, and a glucokinase mutation.</strong> New Eng. J. Med. 362: 1348-1350, 2010. Note: Erratum: New Eng. J. Med. 363: 2178 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20375417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20375417</a>] [<a href="https://doi.org/10.1056/NEJMc0909845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20375417">Kassem et al. (2010)</a> suggested that histologic findings in infants with hyperinsulinemic hypoglycemia might differ according to the genetic cause of the condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20375417+15277402" 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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Christesen, H. B. T., Jacobsen, B. B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M. A., Shiota, C., Matschinsky, F., Barbetti, F.
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<strong>The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.</strong>
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Diabetes 51: 1240-1246, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11916951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cuesta-Munoz, A. L., Huopio, H., Otonkoski, T., Gomez-Zumaquero, J. M., Nanto-Salonen, K., Rahier, J., Lopez-Enriquez, S., Garcia-Gimeno, M. A., Sanz, P., Soriguer, F. C., Laakso, M.
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<strong>Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.</strong>
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Diabetes 53: 2164-2168, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15277402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., Herold, K. C.
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<strong>Familial hyperinsulinism caused by an activating glucokinase mutation.</strong>
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New Eng. J. Med. 338: 226-230, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9435328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kassem, S., Bhandari, S., Rodriguez-Bada, P., Motaghedi, R., Heyman, M., Garcia-Gimeno, M. A., Cobo-Vuilleumier, N., Sanz, P., Maclaren, N. K., Rahier, J., Glaser, B., Cuesta-Munoz, A. L.
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<strong>Large islets, beta-cell proliferation, and a glucokinase mutation.</strong>
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New Eng. J. Med. 362: 1348-1350, 2010. Note: Erratum: New Eng. J. Med. 363: 2178 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20375417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20375417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20375417" 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/10.1056/NEJMc0909845" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Thornton1998" class="mim-anchor"></a>
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Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A.
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<strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong>
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J. Pediat. 132: 9-14, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9469993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9469993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9469993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(98)70477-9" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 4/14/2010
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Marla J. F. O'Neill - updated : 3/17/2006<br>Marla J. F. O'Neill - reorganized : 3/16/2006<br>Victor A. McKusick - updated : 7/8/1998<br>Victor A. McKusick - updated : 4/15/1998
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Victor A. McKusick : 3/31/1998
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carol : 01/04/2024
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carol : 10/07/2022<br>alopez : 10/06/2022<br>carol : 08/06/2018<br>carol : 12/15/2010<br>carol : 4/14/2010<br>carol : 4/26/2006<br>carol : 3/17/2006<br>carol : 3/16/2006<br>carol : 3/16/2006<br>carol : 12/22/2004<br>carol : 9/9/2004<br>carol : 7/13/1998<br>terry : 7/8/1998<br>carol : 5/8/1998<br>carol : 4/20/1998<br>terry : 4/15/1998<br>alopez : 3/31/1998
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<strong>#</strong> 602485
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HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
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<strong>ORPHA:</strong> 79299;
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<strong>DO:</strong> 0070216;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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7p13
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Hyperinsulinemic hypoglycemia, familial, 3
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602485
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Autosomal dominant
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3
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GCK
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138079
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial hyperinsulinemic hypoglycemia-3 (HHF3) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7p13.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450).</p>
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<strong>Clinical Features</strong>
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<p>Thornton et al. (1998) described 3 families with vertical transmission of hyperinsulinism of infancy, suggesting autosomal dominant inheritance. This form of the disorder appeared to be both phenotypically and genetically distinct from autosomal recessive persistent hyperinsulinemic hypoglycemia of infancy. Thornton et al. (1998) compared clinical features of 11 patients from these 3 apparent autosomal dominant inheritance pattern families with those of 14 patients with autosomal recessive hyperinsulinism investigated in the same hospital. The median age of onset was 1 year and 1 day, respectively; birth weight was 3.3 and 4.6 kg, respectively; and response to diet and diazoxide was observed in 10 of the autosomal dominant cases and none of the autosomal recessive cases. None of the mutations previously identified in the SUR1 gene were found in these families. </p><p>Cuesta-Munoz et al. (2004) reported a Finnish woman who had hypoglycemic seizures from birth and inappropriate hyperinsulinemia. Despite a leucine-free diet, high-dose glucose infusion, hydrocortisone, and glucagon, hypoglycemia persisted. She underwent subtotal pancreatectomy at the age of 6 months with no resolution of hypoglycemia; treatment with diazoxide, which continued for 22 years, was also unsuccessful. She was severely mentally retarded, and had seizures until her death at age 29. Histologic analysis of the pancreatic specimens from age 6 months showed pancreatic islets that were 2.5-fold larger than those of controls, and 8- to 10-fold larger compared to those of hyperinsulinemic patients with focal or diffuse pancreatic lesions, respectively. Cuesta-Munoz et al. (2004) noted that this phenotype was considerably more severe than that of previously reported patients. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of HHF3 in the family reported by Thornton et al. (1998) and studied by Glaser et al. (1998) was consistent with autosomal dominant inheritance. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 'family 3' studied by Thornton et al. (1998), Glaser et al. (1998) identified a heterozygous activating mutation in the glucokinase gene (138079.0009). The authors noted that age at onset and severity of symptoms varied markedly in this family, and the oldest affected family member developed diabetes mellitus later in life. </p><p>In a 14-year-old obese boy with a history of neonatal hypoglycemia treated with diazoxide, who was experiencing hypoglycemic episodes associated with seizures and unconsciousness, Christesen et al. (2002) identified heterozygosity for an activating mutation in the GCK gene (138079.0012). The boy's normal-weight mother, who had asymptomatic fasting hypoglycemia, carried the same mutation. Christesen et al. (2002) noted the striking contrast in clinical presentation between the mother and son with the same mutation, and recalled a similar situation in the family reported by Glaser et al. (1998), in which the proband was obese and severely hyperinsulinemic, whereas his sister who carried the same mutation was of normal weight, had relatively low insulin levels, and milder clinical symptoms. </p><p>In a Finnish woman with severe hyperinsulinemic hypoglycemia from birth, Cuesta-Munoz et al. (2004) identified heterozygosity for a de novo activating mutation in the GCK gene (138079.0013). Although paternity was confirmed, the mutation was not found in her parents or her 2 healthy sisters. </p>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Kassem et al. (2010) studied a young girl with severe neonatal hypoglycemia due to a missense mutation in the GCK gene (V91L; 138079.0015). Her father had a similar clinical course but neither his DNA nor pancreatic tissue was available for study. Diazoxide and octreotide therapy did not control the patient's hypoglycemia, and a subtotal pancreatectomy was performed at 3 years of age. Quantitative histologic examination revealed abnormally large islets, with some beta cells containing a large nucleus. The mean islet cell areas in both the head and the tail of the pancreas were significantly larger than those of 5 age-matched controls and those of 2 age-matched patients with diffuse hypoglycemia due to ABCC8 (600509) mutations (see HHF1, 256450), with a relative beta-cell area of 2.9% in the head and 6.7% in the tail of the patient's pancreas, compared with 1.8% in the controls and 1.1% in the patients with ABCC8-related hypoglycemia. Noting a previously reported case in which quantitative histologic analysis showed a similar increase in the mean islet profile (Cuesta-Munoz et al., 2004), Kassem et al. (2010) suggested that histologic findings in infants with hyperinsulinemic hypoglycemia might differ according to the genetic cause of the condition. </p>
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<strong>REFERENCES</strong>
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</h4>
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<p />
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Christesen, H. B. T., Jacobsen, B. B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M. A., Shiota, C., Matschinsky, F., Barbetti, F.
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<strong>The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.</strong>
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Diabetes 51: 1240-1246, 2002.
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[PubMed: 11916951]
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[Full Text: https://doi.org/10.2337/diabetes.51.4.1240]
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Cuesta-Munoz, A. L., Huopio, H., Otonkoski, T., Gomez-Zumaquero, J. M., Nanto-Salonen, K., Rahier, J., Lopez-Enriquez, S., Garcia-Gimeno, M. A., Sanz, P., Soriguer, F. C., Laakso, M.
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<strong>Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.</strong>
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Diabetes 53: 2164-2168, 2004.
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[PubMed: 15277402]
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[Full Text: https://doi.org/10.2337/diabetes.53.8.2164]
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Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., Herold, K. C.
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<strong>Familial hyperinsulinism caused by an activating glucokinase mutation.</strong>
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New Eng. J. Med. 338: 226-230, 1998.
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[PubMed: 9435328]
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[Full Text: https://doi.org/10.1056/NEJM199801223380404]
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Kassem, S., Bhandari, S., Rodriguez-Bada, P., Motaghedi, R., Heyman, M., Garcia-Gimeno, M. A., Cobo-Vuilleumier, N., Sanz, P., Maclaren, N. K., Rahier, J., Glaser, B., Cuesta-Munoz, A. L.
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<strong>Large islets, beta-cell proliferation, and a glucokinase mutation.</strong>
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New Eng. J. Med. 362: 1348-1350, 2010. Note: Erratum: New Eng. J. Med. 363: 2178 only, 2010.
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[PubMed: 20375417]
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[Full Text: https://doi.org/10.1056/NEJMc0909845]
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Thornton, P. S., Satin-Smith, M. S., Herold, K., Glaser, B., Chiu, K. C., Nestorowicz, A., Permutt, M. A., Baker, L., Stanley, C. A.
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<strong>Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.</strong>
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J. Pediat. 132: 9-14, 1998.
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[PubMed: 9469993]
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[Full Text: https://doi.org/10.1016/s0022-3476(98)70477-9]
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