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<title>
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Entry
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- #615361 - HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
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- OMIM
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<span class="h4">#615361</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/615361"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS601198"> <strong>Phenotypic Series</strong> </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="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(HYPOCALCEMIA, AUTOSOMAL DOMINANT) OR (GNA11)" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2111&Typ=Pat" title="Familial isolated hypoparathyroidism" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial isolated hypopara… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=5543&Typ=Pat" title="Autosomal dominant hypocalcemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant hypocal… </a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615361[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2238" title="Familial isolated hypoparathyroidism" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial isolated hypopara…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=428" title="Autosomal dominant hypocalcemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant hypocal…</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0090108" 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/615361" 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://omia.org/OMIA002048/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0090108" 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 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 href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2238, 428<br />
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<strong>DO:</strong> 0090108<br />
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">ICD+</a>
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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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615361
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<h3>
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<span class="mim-font">
|
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|
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<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/19/100?start=-3&limit=10&highlight=100">
|
|
19p13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypocalcemia, autosomal dominant 2
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615361"> 615361 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
<td>
|
|
<span class="mim-font">
|
|
GNA11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139313"> 139313 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/615361" 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/PS601198" 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/615361" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615361" 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> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Postnatal growth failure (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle cramps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45352006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45352006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55300003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55300003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.83</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037763</a>, <a href="https://bioportal.bioontology.org/search?q=C0026821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026821</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span><br /> -
|
|
Carpopedal spasm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75140002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75140002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231785</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">
|
|
|
|
- Paresthesias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91019004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91019004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span><br /> -
|
|
Tetany, hypocalcemic (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190869004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190869004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151940&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151940</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003472" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003472</a>]</span><br /> -
|
|
Basal ganglia calcifications (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16818591000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16818591000119108</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G23.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G23.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tetany, hypocalcemic (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190869004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190869004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151940&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151940</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003472" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003472</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">
|
|
|
|
- Hypocalcemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5291005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5291005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020598</a>, <a href="https://bioportal.bioontology.org/search?q=C3665624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665624</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span><br /> -
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Parathyroid hormone levels low to low-normal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809244</a>]</span><br /> -
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Serum phosphorus normal or mildly elevated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809245</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Some patients have asymptomatic hypocalcemia<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the alpha-11 guanine nucleotide-binding protein gene (GNA11, <a href="/entry/139313#0003">139313.0003</a>)<br />
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<h5>
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Hypocalcemia
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- <a href="/phenotypicSeries/PS601198">PS601198</a>
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- 3 Entries
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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>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<a href="/geneMap/3/599?start=-3&limit=10&highlight=599"> 3q13.33-q21.1 </a>
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<span class="mim-font">
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<a href="/entry/601198"> Hypocalcemia, autosomal dominant </a>
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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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<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 class="mim-font">
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<a href="/entry/601198"> 601198 </a>
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<span class="mim-font">
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<a href="/entry/601199"> CASR </a>
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<span class="mim-font">
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<a href="/entry/601199"> 601199 </a>
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<a href="/geneMap/3/599?start=-3&limit=10&highlight=599"> 3q13.33-q21.1 </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/601198"> Hypocalcemia, autosomal dominant, with Bartter syndrome </a>
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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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<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 class="mim-font">
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<a href="/entry/601198"> 601198 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/601199"> CASR </a>
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<td>
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<span class="mim-font">
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<a href="/entry/601199"> 601199 </a>
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<a href="/geneMap/19/100?start=-3&limit=10&highlight=100"> 19p13.3 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/615361"> Hypocalcemia, autosomal dominant 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/615361"> 615361 </a>
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<span class="mim-font">
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<a href="/entry/139313"> GNA11 </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/139313"> 139313 </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 class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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 autosomal dominant hypocalcemia-2 (HYPOC2) is caused by heterozygous mutation in the GNA11 gene (<a href="/entry/139313">139313</a>) on chromosome 19p13.</p><p>For a discussion of genetic heterogeneity of autosomal dominant hypocalcemia, see HYPOC1 (<a href="/entry/601198">601198</a>).</p>
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<br />
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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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<p><a href="#1" class="mim-tip-reference" title="Hunter, A. G. W., Heick, H., Poznanski, W. J., McLaine, P. N. <strong>Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.</strong> J. Med. Genet. 18: 431-435, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278146</a>] [<a href="https://doi.org/10.1136/jmg.18.6.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278146">Hunter et al. (1981)</a> reported a large 4-generation family of English Canadian origin segregating what they designated 'autosomal dominant hypoparathyroidism.' There were 8 affected members of the family, 2 of whom were asymptomatic. The proband was evaluated at 6 years old for 'febrile convulsions' and found to have positive Trousseau and Chvostek signs, possible laryngospasm, and low serum calcium (6.3 mg/dl) and phosphorus (7.8 mg/dl) levels, with a parathyroid hormone (PTH) level in the low-normal range (177 pg Eq/ml). The proband's affected father had carpopedal spasm and hypocalcemia with normal phosphorus and PTH levels, and 2 paternal aunts also had symptomatic hypocalcemia, whereas 2 paternal uncles were hypocalcemic but asymptomatic. In addition, 2 male cousins, the sons of an affected aunt, were also hypocalcemic and had stiffness, paresthesias, and carpopedal spasm. <a href="#1" class="mim-tip-reference" title="Hunter, A. G. W., Heick, H., Poznanski, W. J., McLaine, P. N. <strong>Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.</strong> J. Med. Genet. 18: 431-435, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278146</a>] [<a href="https://doi.org/10.1136/jmg.18.6.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278146">Hunter et al. (1981)</a> suggested that the phenotype in this family might be associated with a decrease in overall height: the proband and his 2 affected cousins had short stature (height below the 3rd centile), whereas their unaffected sibs were of normal height, and the affected adults' average heights were shorter than those of their unaffected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6278146" 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="Li, D., Opas, E. E., Tuluc, F., Metzger, D. L., Hou, C., Hakonarson, H., Levine, M. A. <strong>Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.</strong> J. Clin. Endocr. Metab. 99: E1774-E1783, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24823460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24823460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24823460[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/10.1210/jc.2014-1029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24823460">Li et al. (2014)</a> restudied the hypocalcemic kindred originally described by <a href="#1" class="mim-tip-reference" title="Hunter, A. G. W., Heick, H., Poznanski, W. J., McLaine, P. N. <strong>Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.</strong> J. Med. Genet. 18: 431-435, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278146</a>] [<a href="https://doi.org/10.1136/jmg.18.6.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278146">Hunter et al. (1981)</a>, including 3 more affected individuals in the next generation who were the children of the 2 male cousins. One cousin had 2 daughters who were diagnosed in infancy, whereas the son of the other cousin was diagnosed at age 20 years after an episode of severe tetany. <a href="#2" class="mim-tip-reference" title="Li, D., Opas, E. E., Tuluc, F., Metzger, D. L., Hou, C., Hakonarson, H., Levine, M. A. <strong>Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.</strong> J. Clin. Endocr. Metab. 99: E1774-E1783, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24823460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24823460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24823460[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/10.1210/jc.2014-1029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24823460">Li et al. (2014)</a> noted that affected members of the pedigree developed mild postnatal growth failure without evidence of growth hormone (GH; <a href="/entry/139250">139250</a>) deficiency and were significantly shorter than their unaffected relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24823460+6278146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Mannstadt, M., Harris, M., Bravenboer, B., Chitturi, S., Dreijerink, K. M. A., Lambright, D. G., Lim, E. T., Daly, M. J., Gabriel, S., Juppner, H. <strong>Germline mutations affecting G-alpha-11 in hypoparathyroidism. (Letter)</strong> New Eng. J. Med. 368: 2532-2534, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23802536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23802536</a>] [<a href="https://doi.org/10.1056/NEJMc1300278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23802536">Mannstadt et al. (2013)</a> studied 2 unrelated 4-generation families segregating autosomal dominant hypocalcemia. In the first family, the male proband was diagnosed at 2 years of age with type 1 diabetes mellitus (see <a href="/entry/222100">222100</a>), at which time his total calcium level was normal. At 5 years of age, he presented with generalized seizures, some of which were not associated with hypoglycemia; he was treated with carbamazepine for a year and had no recurrences when treatment was discontinued. At 14 years of age, he complained of tremulousness and muscle cramps and was found to be hypocalcemic with inappropriately low PTH levels. Review of the family history at that time revealed autosomal dominant transmission of hypocalcemia on the maternal side. In the second family, the female proband presented with chronic fatigue and occasional muscle cramps at 20 years of age and was found to have mild hypocalcemia and mild hyperphosphatemia with a low PTH level. Family evaluation revealed 9 additional relatives diagnosed with isolated hypoparathyroidism, all of whom had similarly mild symptoms of hypocalcemia. None of the affected members of either family had a history of mucocutaneous candidiasis, hearing loss, or renal abnormalities, and clinical examination was unremarkable; specifically, there was no evidence for skin changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23802536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 4-generation family segregating autosomal dominant hypocalcemia in which mutation in the CASR (<a href="/entry/601199">601199</a>), PTH (<a href="/entry/168450">168450</a>), and GCM2 (<a href="/entry/603716">603716</a>) genes had been ruled out, <a href="#3" class="mim-tip-reference" title="Mannstadt, M., Harris, M., Bravenboer, B., Chitturi, S., Dreijerink, K. M. A., Lambright, D. G., Lim, E. T., Daly, M. J., Gabriel, S., Juppner, H. <strong>Germline mutations affecting G-alpha-11 in hypoparathyroidism. (Letter)</strong> New Eng. J. Med. 368: 2532-2534, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23802536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23802536</a>] [<a href="https://doi.org/10.1056/NEJMc1300278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23802536">Mannstadt et al. (2013)</a> performed a genomewide scan that revealed linkage to 19p13.3 (lod score, 3.0). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23802536" 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 8 unrelated patients with hypocalcemia and low or normal serum parathyroid hormone concentrations, who were negative for mutation in the CASR gene (<a href="/entry/601199">601199</a>), <a href="#4" class="mim-tip-reference" title="Nesbit, M. A., Hannan, F. M., Howles, S. A., Babinsky, V. N., Head, R. A., Cranston, T., Rust, N., Hobbs, M. R., Heath, H., III, Thakker, R. V. <strong>Mutations affecting G-protein subunit alpha-11 in hypercalcemia and hypocalcemia.</strong> New Eng. J. Med. 368: 2476-2486, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23802516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23802516</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23802516[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/10.1056/NEJMoa1300253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23802516">Nesbit et al. (2013)</a> analyzed the candidate gene GNA11 (<a href="/entry/139313">139313</a>) and identified heterozygosity for missense mutations in 2 patients (R181Q, <a href="/entry/139313#0003">139313.0003</a>; and F341L, <a href="/entry/139313#0004">139313.0004</a>). Functional analysis in HEK293 cells stably expressing calcium-sensing receptors demonstrated that the mutant GNA11 proteins induce an enhanced sensitivity to changes in extracellular calcium concentrations, similar to the effects of gain-of-function mutations in CASR reported in autosomal dominant hypocalcemia type 1. One of the mutation-positive patients was asymptomatic, whereas the other reported a 10-year history of occasional paresthesias, muscle cramping, and carpopedal spasm. Other family members were unavailable for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23802516" 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 4-generation family segregating autosomal dominant hypocalcemia mapping to chromosome 19q13.3, <a href="#3" class="mim-tip-reference" title="Mannstadt, M., Harris, M., Bravenboer, B., Chitturi, S., Dreijerink, K. M. A., Lambright, D. G., Lim, E. T., Daly, M. J., Gabriel, S., Juppner, H. <strong>Germline mutations affecting G-alpha-11 in hypoparathyroidism. (Letter)</strong> New Eng. J. Med. 368: 2532-2534, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23802536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23802536</a>] [<a href="https://doi.org/10.1056/NEJMc1300278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23802536">Mannstadt et al. (2013)</a> sequenced the candidate gene GNA11 and identified a heterozygous missense mutation (R60C; <a href="/entry/139313#0005">139313.0005</a>) that segregated with disease. In an unrelated 4-generation family with hypocalcemia, exome sequencing revealed heterozygosity for a different missense mutation in GNA11 (S211W; <a href="/entry/139313#0006">139313.0006</a>) in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23802536" 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 affected members of a large 4-generation family segregating autosomal dominant hypocalcemia and short stature, originally reported by <a href="#1" class="mim-tip-reference" title="Hunter, A. G. W., Heick, H., Poznanski, W. J., McLaine, P. N. <strong>Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.</strong> J. Med. Genet. 18: 431-435, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278146</a>] [<a href="https://doi.org/10.1136/jmg.18.6.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278146">Hunter et al. (1981)</a>, <a href="#2" class="mim-tip-reference" title="Li, D., Opas, E. E., Tuluc, F., Metzger, D. L., Hou, C., Hakonarson, H., Levine, M. A. <strong>Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.</strong> J. Clin. Endocr. Metab. 99: E1774-E1783, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24823460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24823460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24823460[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/10.1210/jc.2014-1029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24823460">Li et al. (2014)</a> performed whole-exome sequencing (WES) followed by filtering that revealed a heterozygous missense mutation in the GNA11 gene (R60L; <a href="/entry/139313#0007">139313.0007</a>). Sanger sequencing confirmed that the mutation segregated with disease in the family, and it was not found in 1,200 in-house WES samples. The authors noted that compared to individuals with CASR (<a href="/entry/601199">601199</a>)-associated hypocalcemia (HYPOC1; <a href="/entry/601198">601198</a>), patients with GNA11 mutations lacked hypercalciuria and had normal serum magnesium levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24823460+6278146" 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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Hunter, A. G. W., Heick, H., Poznanski, W. J., McLaine, P. N.
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<strong>Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.</strong>
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J. Med. Genet. 18: 431-435, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6278146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.18.6.431" target="_blank">Full Text</a>]
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Li, D., Opas, E. E., Tuluc, F., Metzger, D. L., Hou, C., Hakonarson, H., Levine, M. A.
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<strong>Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.</strong>
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J. Clin. Endocr. Metab. 99: E1774-E1783, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24823460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24823460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24823460[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=24823460" 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/10.1210/jc.2014-1029" target="_blank">Full Text</a>]
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Mannstadt, M., Harris, M., Bravenboer, B., Chitturi, S., Dreijerink, K. M. A., Lambright, D. G., Lim, E. T., Daly, M. J., Gabriel, S., Juppner, H.
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<strong>Germline mutations affecting G-alpha-11 in hypoparathyroidism. (Letter)</strong>
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New Eng. J. Med. 368: 2532-2534, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23802536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23802536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23802536" 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/NEJMc1300278" target="_blank">Full Text</a>]
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Nesbit, M. A., Hannan, F. M., Howles, S. A., Babinsky, V. N., Head, R. A., Cranston, T., Rust, N., Hobbs, M. R., Heath, H., III, Thakker, R. V.
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<strong>Mutations affecting G-protein subunit alpha-11 in hypercalcemia and hypocalcemia.</strong>
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New Eng. J. Med. 368: 2476-2486, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23802516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23802516</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23802516[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=23802516" 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/NEJMoa1300253" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 09/12/2014
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Marla J. F. O'Neill : 8/6/2013
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alopez : 09/12/2014<br>carol : 8/12/2013
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Hypocalcemia, autosomal dominant 2
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3
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139313
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant hypocalcemia-2 (HYPOC2) is caused by heterozygous mutation in the GNA11 gene (139313) on chromosome 19p13.</p><p>For a discussion of genetic heterogeneity of autosomal dominant hypocalcemia, see HYPOC1 (601198).</p>
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<strong>Clinical Features</strong>
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<p>Hunter et al. (1981) reported a large 4-generation family of English Canadian origin segregating what they designated 'autosomal dominant hypoparathyroidism.' There were 8 affected members of the family, 2 of whom were asymptomatic. The proband was evaluated at 6 years old for 'febrile convulsions' and found to have positive Trousseau and Chvostek signs, possible laryngospasm, and low serum calcium (6.3 mg/dl) and phosphorus (7.8 mg/dl) levels, with a parathyroid hormone (PTH) level in the low-normal range (177 pg Eq/ml). The proband's affected father had carpopedal spasm and hypocalcemia with normal phosphorus and PTH levels, and 2 paternal aunts also had symptomatic hypocalcemia, whereas 2 paternal uncles were hypocalcemic but asymptomatic. In addition, 2 male cousins, the sons of an affected aunt, were also hypocalcemic and had stiffness, paresthesias, and carpopedal spasm. Hunter et al. (1981) suggested that the phenotype in this family might be associated with a decrease in overall height: the proband and his 2 affected cousins had short stature (height below the 3rd centile), whereas their unaffected sibs were of normal height, and the affected adults' average heights were shorter than those of their unaffected sibs. </p><p>Li et al. (2014) restudied the hypocalcemic kindred originally described by Hunter et al. (1981), including 3 more affected individuals in the next generation who were the children of the 2 male cousins. One cousin had 2 daughters who were diagnosed in infancy, whereas the son of the other cousin was diagnosed at age 20 years after an episode of severe tetany. Li et al. (2014) noted that affected members of the pedigree developed mild postnatal growth failure without evidence of growth hormone (GH; 139250) deficiency and were significantly shorter than their unaffected relatives. </p><p>Mannstadt et al. (2013) studied 2 unrelated 4-generation families segregating autosomal dominant hypocalcemia. In the first family, the male proband was diagnosed at 2 years of age with type 1 diabetes mellitus (see 222100), at which time his total calcium level was normal. At 5 years of age, he presented with generalized seizures, some of which were not associated with hypoglycemia; he was treated with carbamazepine for a year and had no recurrences when treatment was discontinued. At 14 years of age, he complained of tremulousness and muscle cramps and was found to be hypocalcemic with inappropriately low PTH levels. Review of the family history at that time revealed autosomal dominant transmission of hypocalcemia on the maternal side. In the second family, the female proband presented with chronic fatigue and occasional muscle cramps at 20 years of age and was found to have mild hypocalcemia and mild hyperphosphatemia with a low PTH level. Family evaluation revealed 9 additional relatives diagnosed with isolated hypoparathyroidism, all of whom had similarly mild symptoms of hypocalcemia. None of the affected members of either family had a history of mucocutaneous candidiasis, hearing loss, or renal abnormalities, and clinical examination was unremarkable; specifically, there was no evidence for skin changes. </p>
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<strong>Mapping</strong>
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<p>In a 4-generation family segregating autosomal dominant hypocalcemia in which mutation in the CASR (601199), PTH (168450), and GCM2 (603716) genes had been ruled out, Mannstadt et al. (2013) performed a genomewide scan that revealed linkage to 19p13.3 (lod score, 3.0). </p>
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<strong>Molecular Genetics</strong>
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<p>In 8 unrelated patients with hypocalcemia and low or normal serum parathyroid hormone concentrations, who were negative for mutation in the CASR gene (601199), Nesbit et al. (2013) analyzed the candidate gene GNA11 (139313) and identified heterozygosity for missense mutations in 2 patients (R181Q, 139313.0003; and F341L, 139313.0004). Functional analysis in HEK293 cells stably expressing calcium-sensing receptors demonstrated that the mutant GNA11 proteins induce an enhanced sensitivity to changes in extracellular calcium concentrations, similar to the effects of gain-of-function mutations in CASR reported in autosomal dominant hypocalcemia type 1. One of the mutation-positive patients was asymptomatic, whereas the other reported a 10-year history of occasional paresthesias, muscle cramping, and carpopedal spasm. Other family members were unavailable for study. </p><p>In a 4-generation family segregating autosomal dominant hypocalcemia mapping to chromosome 19q13.3, Mannstadt et al. (2013) sequenced the candidate gene GNA11 and identified a heterozygous missense mutation (R60C; 139313.0005) that segregated with disease. In an unrelated 4-generation family with hypocalcemia, exome sequencing revealed heterozygosity for a different missense mutation in GNA11 (S211W; 139313.0006) in affected individuals. </p><p>In affected members of a large 4-generation family segregating autosomal dominant hypocalcemia and short stature, originally reported by Hunter et al. (1981), Li et al. (2014) performed whole-exome sequencing (WES) followed by filtering that revealed a heterozygous missense mutation in the GNA11 gene (R60L; 139313.0007). Sanger sequencing confirmed that the mutation segregated with disease in the family, and it was not found in 1,200 in-house WES samples. The authors noted that compared to individuals with CASR (601199)-associated hypocalcemia (HYPOC1; 601198), patients with GNA11 mutations lacked hypercalciuria and had normal serum magnesium levels. </p>
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<strong>REFERENCES</strong>
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Hunter, A. G. W., Heick, H., Poznanski, W. J., McLaine, P. N.
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<strong>Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.</strong>
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J. Med. Genet. 18: 431-435, 1981.
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[PubMed: 6278146]
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[Full Text: https://doi.org/10.1136/jmg.18.6.431]
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Li, D., Opas, E. E., Tuluc, F., Metzger, D. L., Hou, C., Hakonarson, H., Levine, M. A.
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<strong>Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.</strong>
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J. Clin. Endocr. Metab. 99: E1774-E1783, 2014.
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[PubMed: 24823460]
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[Full Text: https://doi.org/10.1210/jc.2014-1029]
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Mannstadt, M., Harris, M., Bravenboer, B., Chitturi, S., Dreijerink, K. M. A., Lambright, D. G., Lim, E. T., Daly, M. J., Gabriel, S., Juppner, H.
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<strong>Germline mutations affecting G-alpha-11 in hypoparathyroidism. (Letter)</strong>
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New Eng. J. Med. 368: 2532-2534, 2013.
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[PubMed: 23802536]
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[Full Text: https://doi.org/10.1056/NEJMc1300278]
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Nesbit, M. A., Hannan, F. M., Howles, S. A., Babinsky, V. N., Head, R. A., Cranston, T., Rust, N., Hobbs, M. R., Heath, H., III, Thakker, R. V.
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<strong>Mutations affecting G-protein subunit alpha-11 in hypercalcemia and hypocalcemia.</strong>
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New Eng. J. Med. 368: 2476-2486, 2013.
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[PubMed: 23802516]
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[Full Text: https://doi.org/10.1056/NEJMoa1300253]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 09/12/2014
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Marla J. F. O'Neill : 8/6/2013
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alopez : 07/13/2018<br>alopez : 09/12/2014<br>carol : 8/12/2013
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