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<title>
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Entry
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- #123320 - CREATINE PHOSPHOKINASE, ELEVATED SERUM
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</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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<div><a href="https://clinicaltrials.gov/search?cond=(CREATINE PHOSPHOKINASE, ELEVATED SERUM) OR (CAV3)" 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=18531&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.diseaseinfosearch.org/x/8113" 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://medlineplus.gov/genetics/condition/isolated-hyperckemia" 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=123320[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=206599" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111338" 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/123320" 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:0111338" 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> 206599<br />
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<strong>DO:</strong> 0111338<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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123320
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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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CREATINE PHOSPHOKINASE, ELEVATED SERUM
|
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
CPK, ELEVATED SERUM<br />
|
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HYPERCKEMIA, IDIOPATHIC
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/3/27?start=-3&limit=10&highlight=27">
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3p25.3
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<span class="mim-font">
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Creatine phosphokinase, elevated serum
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<span class="mim-font">
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<a href="/entry/123320"> 123320 </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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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CAV3
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<span class="mim-font">
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<a href="/entry/601253"> 601253 </a>
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<a href="/clinicalSynopsis/123320" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/123320" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/123320" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> Lab </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Elevated serum CPK <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br /> - Normal muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853440</a>]</span><br /> - Normal exercise lactic acid production<br />
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<strong> Muscle </strong>
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- Muscle cramps with exertion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003710</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003710</a>]</span><br />
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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<span class="mim-font">
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- 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 />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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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<p>A number sign (#) is used with this entry because of evidence that some cases of hyperCKemia are caused by heterozygous mutation in the CAV3 gene (<a href="/entry/601253">601253</a>) on chromosome 3p25.</p>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Features</strong>
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<p>The existence of a 'normal' high serum creatine phosphokinase (CPK) was discussed by <a href="#6" class="mim-tip-reference" title="Emery, A. E. H., Spikesman, A. <strong>Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy.</strong> J. Neurol. Sci. 10: 523-533, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5422556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5422556</a>] [<a href="https://doi.org/10.1016/0022-510x(70)90185-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5422556">Emery and Spikesman (1970)</a> in the context of 'subclinical Duchenne muscular dystrophy.' Patients may describe muscle cramps with exertion, but there is no evidence of neuromuscular disease: muscle biopsy and exercise lactic acid production are normal. This familial trait can plague the physician and medical geneticist who are counseling a family with muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5422556" 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 the course of studying exercise physiology, Michael Brook of St. Louis (<a href="#5" class="mim-tip-reference" title="Drachman, D. B. <strong>Personal Communication.</strong> Baltimore, Md. 1980."None>Drachman, 1980</a>) found that he, as well as a number of other normal physicians, developed markedly elevated CPK levels after bicycle ergometer exercise.</p><p><a href="#2" class="mim-tip-reference" title="Bertorini, T., Yeh, Y.-Y., Trevisan, C., Stadlan, E., Sabesin, S., DiMauro, S. <strong>Carnitine palmityltransferase deficiency: myoglobinuria and respiratory failure.</strong> Neurology 30: 263-271, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7189025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7189025</a>] [<a href="https://doi.org/10.1212/wnl.30.3.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7189025">Bertorini et al. (1980)</a> described a man with carnitine palmitoyltransferase I deficiency (<a href="/entry/255120">255120</a>) who had no clinical difficulties until age 51 years. However, at age 46 he had been found to have elevated CPK for no apparent reason. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sunohara, N., Takagi, A., Nonaka, I., Sugita, H., Satoyoshi, E. <strong>Idiopathic hyperCKemia.</strong> Neurology 34: 544-547, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6538316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6538316</a>] [<a href="https://doi.org/10.1212/wnl.34.4.544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6538316">Sunohara et al. (1984)</a> studied 3 unrelated Japanese adult men with what the authors termed 'idiopathic hyperCKemia.' One was the father of a girl who had survived malignant hyperthermia (<a href="/entry/145600">145600</a>); his parents were first cousins and his mother, a sister, and a daughter of the sister also had high serum CK activity. Sensitivity to caffeine of muscles in vitro, as in malignant hyperthermia, was seen in this man and in one other. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6538316" 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="#7" class="mim-tip-reference" title="Frydman, M., Straussberg, R., Shomrat, R., Goebel, H., Legum, C., Shiloh, Y. <strong>Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.</strong> Am. J. Med. Genet. 58: 209-212, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533818</a>] [<a href="https://doi.org/10.1002/ajmg.1320580302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8533818">Frydman et al. (1995)</a> described a 7-month-old boy with gross motor delay and failure to thrive who presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization, the ECG changed from normal sinus rhythm to a type I Wolff-Parkinson-White pattern. Duchenne muscular dystrophy (DMD; <a href="/entry/310200">310200</a>) was suspected based on elevated creatine kinase serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analyses which documented a deletion in the dystrophin gene (<a href="/entry/300377">300377</a>) in the propositus, and in an affected male cousin of his mother. 'Idiopathic' hyperCKemia was found in the propositus, his father, and 5 of his relatives. <a href="#7" class="mim-tip-reference" title="Frydman, M., Straussberg, R., Shomrat, R., Goebel, H., Legum, C., Shiloh, Y. <strong>Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.</strong> Am. J. Med. Genet. 58: 209-212, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533818</a>] [<a href="https://doi.org/10.1002/ajmg.1320580302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8533818">Frydman et al. (1995)</a> suggested that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of a maternal DMD gene and of a paternal gene causing hyperCKemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533818" 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><strong><em>Differential Diagnosis</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Afifi, A. K. <strong>Idiopathic hyperCKemia revisited. (Editorial)</strong> J. Child Neurol. 13: 251-252, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9660505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9660505</a>] [<a href="https://doi.org/10.1177/088307389801300601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9660505">Afifi (1998)</a> pointed out that reports of idiopathic hyperCKemia had dramatically diminished since the discovery of dystrophin and its gene and the subsequent development of knowledge regarding the variable presentations of dystrophinopathies. About 75% of reported cases have been male. Clinical and/or histopathologic evidence of a neuromuscular disorder developed between 1 and 7 years after detection of hyperCKemia in about one-third of the cases. Diagnoses included distal myopathy, myoadenylate deaminase deficiency, polymyositis, mitochondrial myopathy, sarcoid myopathy, McArdle disease, central core disease, multicore disease, inclusion body myopathy, and Duchenne muscular dystrophy carrier status. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9660505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Della Marca, G., Dittoni, S., Catteruccia, M., Frusciante, R., Madia, F., Losurdo, A., Testani, E., Vollono, C., Servidei, S. <strong>Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia.</strong> Neurology 73: 643-645, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19704085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19704085</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181b38995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19704085">Della Marca et al. (2009)</a> reported 7 patients with severe myalgia in the lower limbs and hyperCKemia who were found to have severe restless legs syndrome with severe periodic limb movements in sleep (RLS; <a href="/entry/102300">102300</a>). Treatment of RLS resulted in improved serum creatine kinase levels in 6 patient who underwent treatment. The authors concluded that some severe cases of RLS can result in increased serum CK, and discussed the possible overlap of the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19704085" 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>From study of 14 monozygotic twins and 14 dizygotic twins, <a href="#8" class="mim-tip-reference" title="Meltzer, H. Y., Dorus, E., Grunhaus, L., Davis, J. M., Belmaker, R. <strong>Genetic control of human plasma creatine phosphokinase activity.</strong> Clin. Genet. 13: 321-326, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/566176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">566176</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01187.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="566176">Meltzer et al. (1978)</a> found evidence of significant heritability of plasma CPK level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=566176" 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="#3" class="mim-tip-reference" title="Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., Panella, A., Zara, F., Bricarelli, F. D., Cordone, G., Lisanti, M. P., Minetti, C. <strong>Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.</strong> Neurology 54: 1373-1376, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746614</a>] [<a href="https://doi.org/10.1212/wnl.54.6.1373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10746614">Carbone et al. (2000)</a> identified a de novo recurrent sporadic mutation in the CAV3 gene (<a href="/entry/601253#0007">601253.0007</a>) in 2 unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. They concluded that their data indicate that partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Afifi1998" class="mim-anchor"></a>
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Afifi, A. K.
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<strong>Idiopathic hyperCKemia revisited. (Editorial)</strong>
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J. Child Neurol. 13: 251-252, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9660505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9660505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9660505" 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/10.1177/088307389801300601" target="_blank">Full Text</a>]
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Bertorini, T., Yeh, Y.-Y., Trevisan, C., Stadlan, E., Sabesin, S., DiMauro, S.
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<strong>Carnitine palmityltransferase deficiency: myoglobinuria and respiratory failure.</strong>
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Neurology 30: 263-271, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7189025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7189025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189025" 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/10.1212/wnl.30.3.263" target="_blank">Full Text</a>]
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Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., Panella, A., Zara, F., Bricarelli, F. D., Cordone, G., Lisanti, M. P., Minetti, C.
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<strong>Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.</strong>
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Neurology 54: 1373-1376, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746614" 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/10.1212/wnl.54.6.1373" target="_blank">Full Text</a>]
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Della Marca, G., Dittoni, S., Catteruccia, M., Frusciante, R., Madia, F., Losurdo, A., Testani, E., Vollono, C., Servidei, S.
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<strong>Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia.</strong>
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Neurology 73: 643-645, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19704085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19704085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19704085" 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/10.1212/WNL.0b013e3181b38995" target="_blank">Full Text</a>]
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Drachman, D. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1980.
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Emery, A. E. H., Spikesman, A.
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<strong>Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy.</strong>
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J. Neurol. Sci. 10: 523-533, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5422556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5422556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5422556" 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/10.1016/0022-510x(70)90185-1" target="_blank">Full Text</a>]
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Frydman, M., Straussberg, R., Shomrat, R., Goebel, H., Legum, C., Shiloh, Y.
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<strong>Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.</strong>
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Am. J. Med. Genet. 58: 209-212, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320580302" target="_blank">Full Text</a>]
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Meltzer, H. Y., Dorus, E., Grunhaus, L., Davis, J. M., Belmaker, R.
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<strong>Genetic control of human plasma creatine phosphokinase activity.</strong>
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Clin. Genet. 13: 321-326, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/566176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">566176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=566176" 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/10.1111/j.1399-0004.1978.tb01187.x" target="_blank">Full Text</a>]
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Sunohara, N., Takagi, A., Nonaka, I., Sugita, H., Satoyoshi, E.
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<strong>Idiopathic hyperCKemia.</strong>
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Neurology 34: 544-547, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6538316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6538316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6538316" 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/10.1212/wnl.34.4.544" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 12/14/2009
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Ada Hamosh - updated : 6/28/2001<br>Victor A. McKusick - updated : 10/8/1998
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Victor A. McKusick : 6/4/1986
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carol : 8/28/2014<br>wwang : 1/14/2010<br>ckniffin : 12/14/2009<br>alopez : 3/13/2002<br>mgross : 6/28/2001<br>mgross : 6/28/2001<br>carol : 10/13/1998<br>terry : 10/8/1998<br>joanna : 2/8/1996<br>mark : 9/14/1995<br>mimadm : 6/25/1994<br>warfield : 4/8/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<strong>#</strong> 123320
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CPK, ELEVATED SERUM<br />
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HYPERCKEMIA, IDIOPATHIC
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<strong>ORPHA:</strong> 206599;
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<strong>DO:</strong> 0111338;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3p25.3
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Creatine phosphokinase, elevated serum
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123320
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Autosomal dominant
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3
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CAV3
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601253
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that some cases of hyperCKemia are caused by heterozygous mutation in the CAV3 gene (601253) on chromosome 3p25.</p>
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<strong>Clinical Features</strong>
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<p>The existence of a 'normal' high serum creatine phosphokinase (CPK) was discussed by Emery and Spikesman (1970) in the context of 'subclinical Duchenne muscular dystrophy.' Patients may describe muscle cramps with exertion, but there is no evidence of neuromuscular disease: muscle biopsy and exercise lactic acid production are normal. This familial trait can plague the physician and medical geneticist who are counseling a family with muscular dystrophy. </p><p>In the course of studying exercise physiology, Michael Brook of St. Louis (Drachman, 1980) found that he, as well as a number of other normal physicians, developed markedly elevated CPK levels after bicycle ergometer exercise.</p><p>Bertorini et al. (1980) described a man with carnitine palmitoyltransferase I deficiency (255120) who had no clinical difficulties until age 51 years. However, at age 46 he had been found to have elevated CPK for no apparent reason. </p><p>Sunohara et al. (1984) studied 3 unrelated Japanese adult men with what the authors termed 'idiopathic hyperCKemia.' One was the father of a girl who had survived malignant hyperthermia (145600); his parents were first cousins and his mother, a sister, and a daughter of the sister also had high serum CK activity. Sensitivity to caffeine of muscles in vitro, as in malignant hyperthermia, was seen in this man and in one other. </p><p>Frydman et al. (1995) described a 7-month-old boy with gross motor delay and failure to thrive who presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization, the ECG changed from normal sinus rhythm to a type I Wolff-Parkinson-White pattern. Duchenne muscular dystrophy (DMD; 310200) was suspected based on elevated creatine kinase serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analyses which documented a deletion in the dystrophin gene (300377) in the propositus, and in an affected male cousin of his mother. 'Idiopathic' hyperCKemia was found in the propositus, his father, and 5 of his relatives. Frydman et al. (1995) suggested that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of a maternal DMD gene and of a paternal gene causing hyperCKemia. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
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Afifi (1998) pointed out that reports of idiopathic hyperCKemia had dramatically diminished since the discovery of dystrophin and its gene and the subsequent development of knowledge regarding the variable presentations of dystrophinopathies. About 75% of reported cases have been male. Clinical and/or histopathologic evidence of a neuromuscular disorder developed between 1 and 7 years after detection of hyperCKemia in about one-third of the cases. Diagnoses included distal myopathy, myoadenylate deaminase deficiency, polymyositis, mitochondrial myopathy, sarcoid myopathy, McArdle disease, central core disease, multicore disease, inclusion body myopathy, and Duchenne muscular dystrophy carrier status. </p><p>Della Marca et al. (2009) reported 7 patients with severe myalgia in the lower limbs and hyperCKemia who were found to have severe restless legs syndrome with severe periodic limb movements in sleep (RLS; 102300). Treatment of RLS resulted in improved serum creatine kinase levels in 6 patient who underwent treatment. The authors concluded that some severe cases of RLS can result in increased serum CK, and discussed the possible overlap of the 2 disorders. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>From study of 14 monozygotic twins and 14 dizygotic twins, Meltzer et al. (1978) found evidence of significant heritability of plasma CPK level. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Carbone et al. (2000) identified a de novo recurrent sporadic mutation in the CAV3 gene (601253.0007) in 2 unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. They concluded that their data indicate that partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Afifi, A. K.
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<strong>Idiopathic hyperCKemia revisited. (Editorial)</strong>
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J. Child Neurol. 13: 251-252, 1998.
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[PubMed: 9660505]
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[Full Text: https://doi.org/10.1177/088307389801300601]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bertorini, T., Yeh, Y.-Y., Trevisan, C., Stadlan, E., Sabesin, S., DiMauro, S.
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<strong>Carnitine palmityltransferase deficiency: myoglobinuria and respiratory failure.</strong>
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Neurology 30: 263-271, 1980.
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[PubMed: 7189025]
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[Full Text: https://doi.org/10.1212/wnl.30.3.263]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., Panella, A., Zara, F., Bricarelli, F. D., Cordone, G., Lisanti, M. P., Minetti, C.
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<strong>Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.</strong>
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Neurology 54: 1373-1376, 2000.
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[PubMed: 10746614]
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[Full Text: https://doi.org/10.1212/wnl.54.6.1373]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Della Marca, G., Dittoni, S., Catteruccia, M., Frusciante, R., Madia, F., Losurdo, A., Testani, E., Vollono, C., Servidei, S.
|
|
<strong>Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia.</strong>
|
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Neurology 73: 643-645, 2009.
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[PubMed: 19704085]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181b38995]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Drachman, D. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1980.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Emery, A. E. H., Spikesman, A.
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<strong>Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy.</strong>
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J. Neurol. Sci. 10: 523-533, 1970.
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[PubMed: 5422556]
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[Full Text: https://doi.org/10.1016/0022-510x(70)90185-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Frydman, M., Straussberg, R., Shomrat, R., Goebel, H., Legum, C., Shiloh, Y.
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<strong>Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.</strong>
|
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Am. J. Med. Genet. 58: 209-212, 1995.
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[PubMed: 8533818]
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[Full Text: https://doi.org/10.1002/ajmg.1320580302]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Meltzer, H. Y., Dorus, E., Grunhaus, L., Davis, J. M., Belmaker, R.
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<strong>Genetic control of human plasma creatine phosphokinase activity.</strong>
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Clin. Genet. 13: 321-326, 1978.
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[PubMed: 566176]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb01187.x]
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</li>
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<li>
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<p class="mim-text-font">
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Sunohara, N., Takagi, A., Nonaka, I., Sugita, H., Satoyoshi, E.
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<strong>Idiopathic hyperCKemia.</strong>
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Neurology 34: 544-547, 1984.
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[PubMed: 6538316]
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[Full Text: https://doi.org/10.1212/wnl.34.4.544]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/14/2009<br>Ada Hamosh - updated : 6/28/2001<br>Victor A. McKusick - updated : 10/8/1998
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 10/06/2014<br>carol : 8/28/2014<br>wwang : 1/14/2010<br>ckniffin : 12/14/2009<br>alopez : 3/13/2002<br>mgross : 6/28/2001<br>mgross : 6/28/2001<br>carol : 10/13/1998<br>terry : 10/8/1998<br>joanna : 2/8/1996<br>mark : 9/14/1995<br>mimadm : 6/25/1994<br>warfield : 4/8/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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