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Entry
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- #223360 - ORTHOSTATIC HYPOTENSION 1; ORTHYP1
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- OMIM
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<p>
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<span class="h4">#223360</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/223360"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS223360"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ORTHOSTATIC HYPOTENSION" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8743&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1474/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2316" 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/dopamine-beta-hydroxylase-deficiency" 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=223360[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=230" 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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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0090145" 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/223360" 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:0090145" 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 id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 237923004<br />
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<strong>ORPHA:</strong> 230<br />
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<strong>DO:</strong> 0090145<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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223360
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ORTHOSTATIC HYPOTENSION 1; ORTHYP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL<br />
|
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NOREPINEPHRINE DEFICIENCY<br />
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NORADRENALINE DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/622?start=-3&limit=10&highlight=622">
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9q34.2
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</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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Orthostatic hypotension 1, due to DBH deficiency
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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/223360"> 223360 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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DBH
|
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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/609312"> 609312 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/223360" 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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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|
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<a href="/phenotypicSeries/PS223360" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
<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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<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>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/223360" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/223360" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Delayed eye opening as a neonate (up to 2 weeks) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857212</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nasal stuffiness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68235000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68235000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R09.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R09.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027424</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001742</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orthostatic hypotension, severe, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857220</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28651003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28651003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001278</a>]</span><br /> -
|
|
Fainting spells <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Impaired ejaculation due to impaired sympathetic activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857211&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857211</a>]</span><br /> -
|
|
Retrograde ejaculation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50112006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50112006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N53.14</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/608.87" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">608.87</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403673</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012877</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012877</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nocturia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/139394000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">139394000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R35.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R35.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028734</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000017" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000017</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000017" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000017</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Central Nervous System </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Seizures may occur during hypotensive episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857210</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
- Hypoglycemia, episodic, in infants <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857223</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
|
|
Hypothermia, episodic, in infants <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857224</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386689009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386689009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/T68" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">T68</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/991.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">991.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/99.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">99.81</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002045</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Undetectable norepinephrine (noradrenaline) in plasma, urine, CSF <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857213</a>]</span><br /> -
|
|
Undetectable epinephrine (adrenaline) in plasma, urine, CSF <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857214</a>]</span><br /> -
|
|
Greatly increased dopamine in plasma, urine, CSF (approximately 10-fold increase) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857215</a>]</span><br /> -
|
|
Increased plasma dihydroxyphenylacetic acid (DOPAC) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857216</a>]</span><br /> -
|
|
Stimulation of sympathetic fibers results in release of dopamine, not norepinephrine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857217</a>]</span><br /> -
|
|
Undetectable dopamine beta-hydroxylase (DBH) protein in plasma, CSF, or sympathetic fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857218</a>]</span><br /> -
|
|
Undetectable plasma DBH activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857219</a>]</span><br /> -
|
|
Decreased serum prolactin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857979</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
|
</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the dopamine beta-hydroxylase gene (DBH, <a href="/entry/609312#0002">609312.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Orthostatic hypotension
|
|
- <a href="/phenotypicSeries/PS223360">PS223360</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/622?start=-3&limit=10&highlight=622"> 9q34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/223360"> Orthostatic hypotension 1, due to DBH deficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/223360"> 223360 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609312"> DBH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609312"> 609312 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/833?start=-3&limit=10&highlight=833"> 17q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618182"> Orthostatic hypotension 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618182"> 618182 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600019"> CYB561 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600019"> 600019 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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|
|
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
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</div>
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
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|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because orthostatic hypotension-1 (ORTHYP1) due to congenital dopamine beta-hydroxylase deficiency is caused by homozygous or compound heterozygous mutation in the DBH gene (<a href="/entry/609312">609312</a>) on chromosome 9q34.</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Orthostatic hypotension-1 (ORTHYP1) is an autosomal recessive disorder characterized by profound autonomic failure. In addition to severe orthostatic hypotension, ptosis, nasal stuffiness, impaired ejaculation, and a neonatal history of delayed eye opening are frequent findings. Biochemical features include undetectable tissue and circulating levels of norepinephrine and epinephrine, elevated levels of dopamine, and undetectable levels of dopamine beta-hydroxylase (summary by <a href="#9" class="mim-tip-reference" title="Kim, C.-H., Zabetian, C. P., Cubells, J. F., Cho, S., Biaggioni, I., Cohen, B. M., Robertson, D., Kim, K.-S. <strong>Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.</strong> Am. J. Med. Genet. 108: 140-147, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857564</a>]" pmid="11857564">Kim et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Orthostatic Hypotension</em></strong></p><p>
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See also ORTHYP2 (<a href="/entry/618182">618182</a>), caused by mutation in the CYB561 gene (<a href="/entry/600019">600019</a>) on chromosome 17q23.</p>
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<p><a href="#14" class="mim-tip-reference" title="Robertson, D., Goldberg, M. R., Onrot, J., Hollister, A. S., Wiley, R., Thompson, J. G., Jr., Robertson, R. M. <strong>Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine.</strong> New Eng. J. Med. 314: 1494-1497, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3010116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3010116</a>] [<a href="https://doi.org/10.1056/NEJM198606053142307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3010116">Robertson et al. (1986)</a> reported a 33-year-old woman of Scottish-Irish descent with isolated failure of autonomic noradrenergic neurotransmission caused by a defect in the beta-hydroxylation of dopamine in peripheral nerves. Clinical features included orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history of delayed eye opening. From age 2 years, she had had episodes of syncope, especially after exercise, and marked ptosis. Parasympathetic and sympathetic cholinergic functions were normal. Plasma norepinephrine levels were less than 10% of normal and plasma dopamine levels were 5 to 10 times normal. Increase in plasma dopamine with the upright posture and with administration of yohimbine indicated that dopamine was released by physiologic and pharmacologic sympathetic stimulation. The early onset and general character of the disorder suggested a genetic basis, but there was no family history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3010116" 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="Biaggioni, I., Goldstein, D. S., Atkinson, T., Robertson, D. <strong>Dopamine-beta-hydroxylase deficiency in humans.</strong> Neurology 40: 370-373, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300263</a>] [<a href="https://doi.org/10.1212/wnl.40.2.370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300263">Biaggioni et al. (1990)</a> reported a 42-year-old man with lifelong severe orthostatic hypotension, ptosis, nasal stuffiness, and retrograde ejaculation due to DBH deficiency. He had an isolated deficiency of norepinephrine in both central and peripheral neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300263" 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="#15" class="mim-tip-reference" title="Robertson, D., Haile, V., Perry, S. E., Robertson, R. M., Phillips, J. A., III, Biaggioni, I. <strong>Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation.</strong> Hypertension 18: 1-8, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677640</a>] [<a href="https://doi.org/10.1161/01.hyp.18.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677640">Robertson et al. (1991)</a> reviewed dopamine beta-hydroxylase deficiency in detail on the basis of the first 6 published cases. Affected neonates may show a delay in opening of the eyes, up to 2 weeks in some cases, and ptosis of eyelids. The infants have occasionally been so sickly at birth that parents were advised their survival was unlikely. Hypotension, hypoglycemia, and hypothermia may occur early in life. Postural hypotension occurring with exertion has limited the ability of DBH-deficient patients to exercise during childhood. The syncope associated with postural hypertension has led to trials of anticonvulsive medication. Symptoms generally worsen in late adolescence and early adulthood. Reduced exercise tolerance, ptosis of the eyelids, nasal stuffiness, and prolonged or retrograde ejaculation are features. Retrograde ejaculation is recognized by the presence of semen in the post-ejaculation urine void. The patients are distinguished from familial dysautonomia (<a href="/entry/223900">223900</a>) by (1) normal tearing, (2) intact corneal and deep tendon reflexes, (3) normal sensory function, (4) normal senses of taste and smell, and (5) lack of the cholinergic sensitivity and intradermal histamine response typical of the latter condition. <a href="#15" class="mim-tip-reference" title="Robertson, D., Haile, V., Perry, S. E., Robertson, R. M., Phillips, J. A., III, Biaggioni, I. <strong>Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation.</strong> Hypertension 18: 1-8, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677640</a>] [<a href="https://doi.org/10.1161/01.hyp.18.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677640">Robertson et al. (1991)</a> noted that at the time of their report, no patients had been of Ashkenazi Jewish extraction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1677640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Patients with Orthostatic Hypotension without Known Mutations</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Man in't Veld, A. J., Moleman, P., Boomsma, F., Schalekamp, M. A. D. H. <strong>Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome.</strong> Lancet 329: 183-188, 1987. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880016</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)90002-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2880016">Man in't Veld et al. (1987)</a> described a similar case in a 21-year-old woman with severe orthostatic hypotension. Ptosis, skeletal muscle hypotonia, and recurrent hypoglycemia had been noticed from early childhood. There was virtually complete loss of noradrenergic innervation but intact cholinergic function. Noradrenaline and adrenaline were not detectable in plasma, urine, and cerebrospinal fluid, but dopamine was increased 7- to 12-fold in plasma, 4-fold in urine, and 20-fold in CSF. Measurements of catecholamine metabolites showed further evidence for impairment of noradrenaline and adrenaline biosynthesis due to deficient dopamine beta-hydroxylation. Dopamine beta-hydroxylase was undetectable in plasma and CSF. Physiologic and pharmacologic stimuli of sympathetic neurotransmitter release caused increases in plasma dopamine rather than in plasma noradrenaline. <a href="#10" class="mim-tip-reference" title="Man in't Veld, A. J., Moleman, P., Boomsma, F., Schalekamp, M. A. D. H. <strong>Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome.</strong> Lancet 329: 183-188, 1987. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880016</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)90002-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2880016">Man in't Veld et al. (1987)</a> concluded that the patient had congenital dopamine beta-hydroxylase deficiency. There were no other affected individuals in the family, the parents were unrelated, and 2 sibs were in good health. As useful controls, 12 other patients with orthostatic hypotension, either idiopathic or due to other causes such as hereditary amyloidosis (see, e.g., <a href="/entry/105200">105200</a>), primary amyloidosis, diabetic neuropathy (see <a href="/entry/603933">603933</a>), multiple system atrophy (<a href="/entry/146500">146500</a>), or amyloidosis with multiple myeloma, were studied and found to have normal levels of dopamine in the plasma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880016" 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="#11" class="mim-tip-reference" title="Mathias, C. J., Bannister, R. B., Cortelli, P., Heslop, K., Polak, J. M., Raimbach, S., Springall, D. R., Watson, L. <strong>Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase.</strong> Quart. J. Med. 75: 617-633, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2217667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2217667</a>]" pmid="2217667">Mathias et al. (1990)</a> described a brother and sister with long-standing symptoms of postural hypotension. In the male, erection was unaffected, but ejaculation was prolonged or absent. Autonomic function tests confirmed sympathetic adrenergic failure with normal sympathetic cholinergic and intact parasympathetic function. There were no other neurologic abnormalities. Plasma dopamine was elevated, but noradrenaline and adrenaline were undetectable in the plasma, as was dopamine beta-hydroxylase activity. In perivascular cutaneous tissue, DBH immunoreactivity was absent. The parents were clinically and biochemically normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2217667" 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="Biaggioni, I., Robertson, D. <strong>Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency.</strong> Lancet 330: 1170-1172, 1987. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2890806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2890806</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)91317-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2890806">Biaggioni and Robertson (1987)</a> found remarkable improvement from administration of DL-dihydroxyphenylserine by mouth in 2 patients with lifelong orthostatic hypotension due to DBH deficiency. Both patients also had ptosis and nasal stuffiness all their lives. The therapeutic agent bypassed the DBH deficiency, since it was readily converted to noradrenaline by decarboxylation of the terminal carboxyl group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2890806" 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 brother and sister with DBH deficiency, <a href="#11" class="mim-tip-reference" title="Mathias, C. J., Bannister, R. B., Cortelli, P., Heslop, K., Polak, J. M., Raimbach, S., Springall, D. R., Watson, L. <strong>Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase.</strong> Quart. J. Med. 75: 617-633, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2217667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2217667</a>]" pmid="2217667">Mathias et al. (1990)</a> reported that treatment with dihydroxyphenylserine reduced symptoms and signs of postural hypotension, increased plasma levels of noradrenaline, and, in the brother, made ejaculation possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2217667" 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="#16" class="mim-tip-reference" title="Ross, S. B., Wetterberg, L., Myrhed, M. <strong>Genetic control of plasma dopamine-beta-hydroxylase.</strong> Life Sci. 12: 529-532, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4796226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4796226</a>] [<a href="https://doi.org/10.1016/0024-3205(73)90056-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4796226">Ross et al. (1973)</a> concluded that the variation in plasma DBH levels is under genetic control; they found a higher concordance for level of DBH activity in monozygotic twins than in dizygotic twins. <a href="#17" class="mim-tip-reference" title="Schanberg, S. M., Stone, R. A., Kirshner, N., Gunnells, J. C., Robinson, R. R. <strong>Plasma dopamine beta-hydroxylase: a possible aid in the study and evaluation of hypertension.</strong> Science 183: 523-525, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4809562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4809562</a>] [<a href="https://doi.org/10.1126/science.183.4124.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4809562">Schanberg et al. (1974)</a> found that individuals showed a wide variation in levels of plasma dopamine beta-hydroxylase, with a 'low' group and a 'high' group. The high group tended to show higher and less stable levels of blood pressure. <a href="#12" class="mim-tip-reference" title="Ogihara, T., Nugent, C. A., Jr., Shen, S.-W., Goldfein, S. <strong>Serum dopamine-beta-hydroxylase activity in parents and children.</strong> J. Lab. Clin. Med. 85: 566-573, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1120928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1120928</a>]" pmid="1120928">Ogihara et al. (1975)</a> did not find a bimodal distribution for serum DBH in the population. They also did not find a relationship between plasma DBH activity and hypertension in any age group. However, highly significant correlations were found for the serum DBH of sib-sib pairs and mean parent-child pairs. No significant correlation was found for father-mother pairs, suggesting that genetic factors are more important than environmental factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4796226+1120928+4809562" 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="#18" class="mim-tip-reference" title="Weinshilboum, R. M., Schorott, H. G., Raymond, F. A., Weidman, W. H., Elveback, L. R. <strong>Inheritance of very low serum dopamine-beta-hydroxylase activity.</strong> Am. J. Hum. Genet. 27: 573-585, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1163533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1163533</a>]" pmid="1163533">Weinshilboum et al. (1975)</a> determined plasma DBH activity in 841 healthy children aged 6 to 12 years and 227 adult blood donors. Approximately 4% of the children and 3% of adults had very low serum DBH activity. Detailed analysis showed a striking familial aggregation of very low serum DBH activity, and the authors concluded autosomal recessive inheritance. No correlation was found with DBH activity and blood pressure in the children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1163533" 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="Gershon, E. S., Goldin, L. R. <strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT) and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. (Abstract)</strong> Am. J. Hum. Genet. 33: 136A only, 1981."None>Gershon and Goldin (1981)</a> concluded that the family data are consistent with codominant inheritance.</p>
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<p><a href="#8" class="mim-tip-reference" title="Goldin, L. R., Gershon, E. S., Lake, C. R., Murphy, D. L., McGinniss, M., Sparkes, R. S. <strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.</strong> Am. J. Hum. Genet. 34: 250-262, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951409</a>]" pmid="6951409">Goldin et al. (1982)</a> found evidence for linkage of DBH to ABO on chromosome 9 (maximum lod score of 1.82 at 0.0 and 10% recombination fractions for males and females, respectively). <a href="#6" class="mim-tip-reference" title="Elston, R. C., Namboodiri, K. K., Hames, C. G. <strong>Segregation and linkage analysis of dopamine-beta-hydroxylase activity.</strong> Hum. Hered. 29: 284-292, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/489028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">489028</a>] [<a href="https://doi.org/10.1159/000153059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="489028">Elston et al. (1979)</a> found a lod score of 2.32 at 0% recombination, giving a combined score of 2.32. <a href="#1" class="mim-tip-reference" title="Asamoah, A., Wilson, A. F., Elston, R. C., Dalferes, E., Jr., Berenson, G. S. <strong>Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree.</strong> Am. J. Med. Genet. 27: 613-621, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3631133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3631133</a>] [<a href="https://doi.org/10.1002/ajmg.1320270314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3631133">Asamoah et al. (1987)</a> studied DBH levels and polymorphic markers in 178 members of a family ascertained through 6 members who had myocardial infarction. The persons with infarction had lower levels of DBH than did others, but the difference was partly confounded with age differences. Segregation analysis suggested that a codominant gene for DBH was segregating in the family. The largest lod score yielded by linkage analysis was 0.53 with ABO at 20% recombination. Adding this to the lod scores obtained by <a href="#6" class="mim-tip-reference" title="Elston, R. C., Namboodiri, K. K., Hames, C. G. <strong>Segregation and linkage analysis of dopamine-beta-hydroxylase activity.</strong> Hum. Hered. 29: 284-292, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/489028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">489028</a>] [<a href="https://doi.org/10.1159/000153059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="489028">Elston et al. (1979)</a> and <a href="#8" class="mim-tip-reference" title="Goldin, L. R., Gershon, E. S., Lake, C. R., Murphy, D. L., McGinniss, M., Sparkes, R. S. <strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.</strong> Am. J. Hum. Genet. 34: 250-262, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951409</a>]" pmid="6951409">Goldin et al. (1982)</a>, <a href="#1" class="mim-tip-reference" title="Asamoah, A., Wilson, A. F., Elston, R. C., Dalferes, E., Jr., Berenson, G. S. <strong>Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree.</strong> Am. J. Med. Genet. 27: 613-621, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3631133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3631133</a>] [<a href="https://doi.org/10.1002/ajmg.1320270314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3631133">Asamoah et al. (1987)</a> obtained combined lod scores of 2.49 and 2.50 at 0.0 and 10% recombination, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6951409+3631133+489028" 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>Linkage analysis by Wilson et al. (<a href="#20" class="mim-tip-reference" title="Wilson, A. F., Elston, R. C., Siervogel, R. M., Tran, L. D. <strong>Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus. (Abstract)</strong> Am. J. Hum. Genet. 41: A191 only, 1987."None>1987</a>, <a href="#21" class="mim-tip-reference" title="Wilson, A. F., Elston, R. C., Siervogel, R. M., Tran, L. D. <strong>Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus.</strong> Am. J. Hum. Genet. 42: 160-166, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422127</a>]" pmid="3422127">1988</a>) yielded a lod score of 5.88 at a recombination fraction of 0.0 for the linkage of DBH and ABO. The DBH gene was not polymorphic in a black family. In studies using RFLPs of the DBH gene, <a href="#13" class="mim-tip-reference" title="Perry, S. E., Summar, M. L., Phillips, J. A., III, Robertson, D. <strong>Linkage analysis of the human dopamine beta-hydroxylase gene.</strong> Genomics 10: 493-495, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071155</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90339-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2071155">Perry et al. (1991)</a> found no recombination with argininosuccinate synthetase (<a href="/entry/603470">603470</a>) and ABO blood group loci, with lod scores of 7.37 and 4.5, respectively, at theta = 0.0, confirming mapping of the DBH locus to chromosome 9q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3422127+2071155" 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 2 unrelated patients with orthostatic hypotension due to dopamine beta-hydroxylase deficiency reported by <a href="#14" class="mim-tip-reference" title="Robertson, D., Goldberg, M. R., Onrot, J., Hollister, A. S., Wiley, R., Thompson, J. G., Jr., Robertson, R. M. <strong>Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine.</strong> New Eng. J. Med. 314: 1494-1497, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3010116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3010116</a>] [<a href="https://doi.org/10.1056/NEJM198606053142307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3010116">Robertson et al. (1986)</a> and <a href="#2" class="mim-tip-reference" title="Biaggioni, I., Goldstein, D. S., Atkinson, T., Robertson, D. <strong>Dopamine-beta-hydroxylase deficiency in humans.</strong> Neurology 40: 370-373, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300263</a>] [<a href="https://doi.org/10.1212/wnl.40.2.370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300263">Biaggioni et al. (1990)</a>, <a href="#9" class="mim-tip-reference" title="Kim, C.-H., Zabetian, C. P., Cubells, J. F., Cho, S., Biaggioni, I., Cohen, B. M., Robertson, D., Kim, K.-S. <strong>Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.</strong> Am. J. Med. Genet. 108: 140-147, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857564</a>]" pmid="11857564">Kim et al. (2002)</a> identified compound heterozygosity for mutations in the DBH gene (<a href="/entry/609312#0002">609312.0002</a>-<a href="/entry/609312#0004">609312.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3010116+2300263+11857564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Dunnette1976" class="mim-tip-reference" title="Dunnette, J., Weinshilboum, R. <strong>Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples.</strong> Am. J. Hum. Genet. 28: 155-166, 1976.">Dunnette and Weinshilboum (1976)</a>; <a href="#Dunnette1977" class="mim-tip-reference" title="Dunnette, J., Weinshilboum, R. <strong>Inheritance of low immunoreactive human plasma dopamine-beta-hydroxylase: radioimmunoassay studies.</strong> J. Clin. Invest. 60: 1080-1087, 1977.">Dunnette and Weinshilboum (1977)</a>; <a href="#Weinshilboum1979" class="mim-tip-reference" title="Weinshilboum, R. M. <strong>Catecholamine biochemical genetics in human populations. In: Breakefield, X. O.: Neurogenetics: Genetic Approaches to the Nervous System.</strong> New York: Elsevier/North Holland (pub.) 1979. Pp. 257-282.">Weinshilboum (1979)</a>
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Asamoah, A., Wilson, A. F., Elston, R. C., Dalferes, E., Jr., Berenson, G. S.
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<strong>Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree.</strong>
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Am. J. Med. Genet. 27: 613-621, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3631133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3631133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3631133" 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.1320270314" target="_blank">Full Text</a>]
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Biaggioni, I., Goldstein, D. S., Atkinson, T., Robertson, D.
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<strong>Dopamine-beta-hydroxylase deficiency in humans.</strong>
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Neurology 40: 370-373, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300263" 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.40.2.370" target="_blank">Full Text</a>]
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Biaggioni, I., Robertson, D.
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<strong>Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency.</strong>
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Lancet 330: 1170-1172, 1987. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2890806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2890806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2890806" 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/s0140-6736(87)91317-1" target="_blank">Full Text</a>]
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Dunnette, J., Weinshilboum, R.
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<strong>Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples.</strong>
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Am. J. Hum. Genet. 28: 155-166, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/57719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">57719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=57719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dunnette, J., Weinshilboum, R.
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<strong>Inheritance of low immunoreactive human plasma dopamine-beta-hydroxylase: radioimmunoassay studies.</strong>
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J. Clin. Invest. 60: 1080-1087, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/908751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">908751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=908751" 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/10.1172/JCI108859" target="_blank">Full Text</a>]
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Elston, R. C., Namboodiri, K. K., Hames, C. G.
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<strong>Segregation and linkage analysis of dopamine-beta-hydroxylase activity.</strong>
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Hum. Hered. 29: 284-292, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/489028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">489028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=489028" 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/10.1159/000153059" target="_blank">Full Text</a>]
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Gershon, E. S., Goldin, L. R.
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<strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT) and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. (Abstract)</strong>
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Am. J. Hum. Genet. 33: 136A only, 1981.
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Goldin, L. R., Gershon, E. S., Lake, C. R., Murphy, D. L., McGinniss, M., Sparkes, R. S.
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<strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.</strong>
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Am. J. Hum. Genet. 34: 250-262, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6951409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kim, C.-H., Zabetian, C. P., Cubells, J. F., Cho, S., Biaggioni, I., Cohen, B. M., Robertson, D., Kim, K.-S.
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<strong>Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.</strong>
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Am. J. Med. Genet. 108: 140-147, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Man in't Veld1987" class="mim-anchor"></a>
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<div class="">
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Man in't Veld, A. J., Moleman, P., Boomsma, F., Schalekamp, M. A. D. H.
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<strong>Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome.</strong>
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Lancet 329: 183-188, 1987. Note: Originally Volume 1.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880016" 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/s0140-6736(87)90002-x" target="_blank">Full Text</a>]
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<a id="Mathias1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mathias, C. J., Bannister, R. B., Cortelli, P., Heslop, K., Polak, J. M., Raimbach, S., Springall, D. R., Watson, L.
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<strong>Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase.</strong>
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Quart. J. Med. 75: 617-633, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2217667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2217667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2217667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Ogihara1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ogihara, T., Nugent, C. A., Jr., Shen, S.-W., Goldfein, S.
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<strong>Serum dopamine-beta-hydroxylase activity in parents and children.</strong>
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J. Lab. Clin. Med. 85: 566-573, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1120928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1120928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1120928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Perry1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perry, S. E., Summar, M. L., Phillips, J. A., III, Robertson, D.
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<strong>Linkage analysis of the human dopamine beta-hydroxylase gene.</strong>
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Genomics 10: 493-495, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2071155" 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/10.1016/0888-7543(91)90339-g" target="_blank">Full Text</a>]
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<a id="Robertson1986" class="mim-anchor"></a>
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Robertson, D., Goldberg, M. R., Onrot, J., Hollister, A. S., Wiley, R., Thompson, J. G., Jr., Robertson, R. M.
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<strong>Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine.</strong>
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New Eng. J. Med. 314: 1494-1497, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3010116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3010116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3010116" 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/NEJM198606053142307" target="_blank">Full Text</a>]
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Robertson, D., Haile, V., Perry, S. E., Robertson, R. M., Phillips, J. A., III, Biaggioni, I.
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<strong>Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation.</strong>
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Hypertension 18: 1-8, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1677640" 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/10.1161/01.hyp.18.1.1" target="_blank">Full Text</a>]
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<a id="Ross1973" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ross, S. B., Wetterberg, L., Myrhed, M.
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<strong>Genetic control of plasma dopamine-beta-hydroxylase.</strong>
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Life Sci. 12: 529-532, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4796226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4796226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4796226" 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/10.1016/0024-3205(73)90056-8" target="_blank">Full Text</a>]
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Schanberg, S. M., Stone, R. A., Kirshner, N., Gunnells, J. C., Robinson, R. R.
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<strong>Plasma dopamine beta-hydroxylase: a possible aid in the study and evaluation of hypertension.</strong>
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Science 183: 523-525, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4809562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4809562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4809562" 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/10.1126/science.183.4124.523" target="_blank">Full Text</a>]
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Weinshilboum, R. M., Schorott, H. G., Raymond, F. A., Weidman, W. H., Elveback, L. R.
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<strong>Inheritance of very low serum dopamine-beta-hydroxylase activity.</strong>
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Am. J. Hum. Genet. 27: 573-585, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1163533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1163533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1163533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Weinshilboum, R. M.
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<strong>Catecholamine biochemical genetics in human populations. In: Breakefield, X. O.: Neurogenetics: Genetic Approaches to the Nervous System.</strong>
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New York: Elsevier/North Holland (pub.) 1979. Pp. 257-282.
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<a id="Wilson1987" class="mim-anchor"></a>
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Wilson, A. F., Elston, R. C., Siervogel, R. M., Tran, L. D.
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<strong>Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus. (Abstract)</strong>
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Am. J. Hum. Genet. 41: A191 only, 1987.
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<a id="Wilson1988" class="mim-anchor"></a>
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Wilson, A. F., Elston, R. C., Siervogel, R. M., Tran, L. D.
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<strong>Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus.</strong>
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Am. J. Hum. Genet. 42: 160-166, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3422127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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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Anne M. Stumpf - updated : 04/02/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/18/2005<br>Cassandra L. Kniffin - updated : 4/11/2005<br>Cassandra L. Kniffin - updated : 6/8/2004<br>Stylianos E. Antonarakis - updated : 4/13/2004<br>Victor A. McKusick - updated : 11/22/2002<br>Victor A. McKusick - updated : 5/11/2001<br>Victor A. McKusick - updated : 3/8/2001<br>Victor A. McKusick - updated : 12/11/2000<br>Stylianos E. Antonarakis - updated : 12/17/1997<br>Victor A. McKusick - updated : 5/29/1997<br>Moyra Smith - updated : 12/19/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 11/25/2024
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carol : 04/29/2022<br>carol : 03/08/2022<br>alopez : 04/02/2020<br>carol : 11/29/2018<br>carol : 11/14/2018<br>ckniffin : 11/12/2018<br>carol : 04/12/2016<br>ckniffin : 11/5/2009<br>terry : 5/4/2009<br>terry : 4/9/2009<br>carol : 2/13/2009<br>carol : 5/31/2007<br>tkritzer : 4/19/2005<br>ckniffin : 4/18/2005<br>wwang : 4/14/2005<br>ckniffin : 4/11/2005<br>carol : 12/21/2004<br>tkritzer : 6/11/2004<br>ckniffin : 6/8/2004<br>mgross : 4/13/2004<br>joanna : 3/17/2004<br>tkritzer : 12/31/2002<br>cwells : 11/22/2002<br>terry : 11/20/2002<br>mcapotos : 5/22/2001<br>mcapotos : 5/17/2001<br>terry : 5/11/2001<br>mcapotos : 3/20/2001<br>mcapotos : 3/16/2001<br>terry : 3/8/2001<br>mcapotos : 12/18/2000<br>terry : 12/11/2000<br>carol : 5/26/1999<br>alopez : 8/25/1998<br>carol : 12/17/1997<br>mark : 5/29/1997<br>mark : 1/15/1997<br>jenny : 12/19/1996<br>mark : 12/14/1995<br>terry : 12/14/1995<br>mark : 5/18/1995<br>davew : 6/8/1994<br>mimadm : 4/18/1994<br>warfield : 3/8/1994<br>carol : 2/2/1993<br>carol : 4/1/1992
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<strong>#</strong> 223360
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<h3>
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ORTHOSTATIC HYPOTENSION 1; ORTHYP1
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DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL<br />
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NOREPINEPHRINE DEFICIENCY<br />
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NORADRENALINE DEFICIENCY
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 237923004;
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<strong>ORPHA:</strong> 230;
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<strong>DO:</strong> 0090145;
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</span>
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</p>
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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>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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9q34.2
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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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Orthostatic hypotension 1, due to DBH deficiency
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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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223360
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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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Autosomal recessive
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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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3
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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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DBH
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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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609312
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because orthostatic hypotension-1 (ORTHYP1) due to congenital dopamine beta-hydroxylase deficiency is caused by homozygous or compound heterozygous mutation in the DBH gene (609312) on chromosome 9q34.</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>Description</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>Orthostatic hypotension-1 (ORTHYP1) is an autosomal recessive disorder characterized by profound autonomic failure. In addition to severe orthostatic hypotension, ptosis, nasal stuffiness, impaired ejaculation, and a neonatal history of delayed eye opening are frequent findings. Biochemical features include undetectable tissue and circulating levels of norepinephrine and epinephrine, elevated levels of dopamine, and undetectable levels of dopamine beta-hydroxylase (summary by Kim et al., 2002). </p><p><strong><em>Genetic Heterogeneity of Orthostatic Hypotension</em></strong></p><p>
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See also ORTHYP2 (618182), caused by mutation in the CYB561 gene (600019) on chromosome 17q23.</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>Clinical Features</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>Robertson et al. (1986) reported a 33-year-old woman of Scottish-Irish descent with isolated failure of autonomic noradrenergic neurotransmission caused by a defect in the beta-hydroxylation of dopamine in peripheral nerves. Clinical features included orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history of delayed eye opening. From age 2 years, she had had episodes of syncope, especially after exercise, and marked ptosis. Parasympathetic and sympathetic cholinergic functions were normal. Plasma norepinephrine levels were less than 10% of normal and plasma dopamine levels were 5 to 10 times normal. Increase in plasma dopamine with the upright posture and with administration of yohimbine indicated that dopamine was released by physiologic and pharmacologic sympathetic stimulation. The early onset and general character of the disorder suggested a genetic basis, but there was no family history. </p><p>Biaggioni et al. (1990) reported a 42-year-old man with lifelong severe orthostatic hypotension, ptosis, nasal stuffiness, and retrograde ejaculation due to DBH deficiency. He had an isolated deficiency of norepinephrine in both central and peripheral neurons. </p><p>Robertson et al. (1991) reviewed dopamine beta-hydroxylase deficiency in detail on the basis of the first 6 published cases. Affected neonates may show a delay in opening of the eyes, up to 2 weeks in some cases, and ptosis of eyelids. The infants have occasionally been so sickly at birth that parents were advised their survival was unlikely. Hypotension, hypoglycemia, and hypothermia may occur early in life. Postural hypotension occurring with exertion has limited the ability of DBH-deficient patients to exercise during childhood. The syncope associated with postural hypertension has led to trials of anticonvulsive medication. Symptoms generally worsen in late adolescence and early adulthood. Reduced exercise tolerance, ptosis of the eyelids, nasal stuffiness, and prolonged or retrograde ejaculation are features. Retrograde ejaculation is recognized by the presence of semen in the post-ejaculation urine void. The patients are distinguished from familial dysautonomia (223900) by (1) normal tearing, (2) intact corneal and deep tendon reflexes, (3) normal sensory function, (4) normal senses of taste and smell, and (5) lack of the cholinergic sensitivity and intradermal histamine response typical of the latter condition. Robertson et al. (1991) noted that at the time of their report, no patients had been of Ashkenazi Jewish extraction. </p><p><strong><em>Patients with Orthostatic Hypotension without Known Mutations</em></strong></p><p>
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Man in't Veld et al. (1987) described a similar case in a 21-year-old woman with severe orthostatic hypotension. Ptosis, skeletal muscle hypotonia, and recurrent hypoglycemia had been noticed from early childhood. There was virtually complete loss of noradrenergic innervation but intact cholinergic function. Noradrenaline and adrenaline were not detectable in plasma, urine, and cerebrospinal fluid, but dopamine was increased 7- to 12-fold in plasma, 4-fold in urine, and 20-fold in CSF. Measurements of catecholamine metabolites showed further evidence for impairment of noradrenaline and adrenaline biosynthesis due to deficient dopamine beta-hydroxylation. Dopamine beta-hydroxylase was undetectable in plasma and CSF. Physiologic and pharmacologic stimuli of sympathetic neurotransmitter release caused increases in plasma dopamine rather than in plasma noradrenaline. Man in't Veld et al. (1987) concluded that the patient had congenital dopamine beta-hydroxylase deficiency. There were no other affected individuals in the family, the parents were unrelated, and 2 sibs were in good health. As useful controls, 12 other patients with orthostatic hypotension, either idiopathic or due to other causes such as hereditary amyloidosis (see, e.g., 105200), primary amyloidosis, diabetic neuropathy (see 603933), multiple system atrophy (146500), or amyloidosis with multiple myeloma, were studied and found to have normal levels of dopamine in the plasma. </p><p>Mathias et al. (1990) described a brother and sister with long-standing symptoms of postural hypotension. In the male, erection was unaffected, but ejaculation was prolonged or absent. Autonomic function tests confirmed sympathetic adrenergic failure with normal sympathetic cholinergic and intact parasympathetic function. There were no other neurologic abnormalities. Plasma dopamine was elevated, but noradrenaline and adrenaline were undetectable in the plasma, as was dopamine beta-hydroxylase activity. In perivascular cutaneous tissue, DBH immunoreactivity was absent. The parents were clinically and biochemically normal. </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>Clinical Management</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>Biaggioni and Robertson (1987) found remarkable improvement from administration of DL-dihydroxyphenylserine by mouth in 2 patients with lifelong orthostatic hypotension due to DBH deficiency. Both patients also had ptosis and nasal stuffiness all their lives. The therapeutic agent bypassed the DBH deficiency, since it was readily converted to noradrenaline by decarboxylation of the terminal carboxyl group. </p><p>In a brother and sister with DBH deficiency, Mathias et al. (1990) reported that treatment with dihydroxyphenylserine reduced symptoms and signs of postural hypotension, increased plasma levels of noradrenaline, and, in the brother, made ejaculation possible. </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>Ross et al. (1973) concluded that the variation in plasma DBH levels is under genetic control; they found a higher concordance for level of DBH activity in monozygotic twins than in dizygotic twins. Schanberg et al. (1974) found that individuals showed a wide variation in levels of plasma dopamine beta-hydroxylase, with a 'low' group and a 'high' group. The high group tended to show higher and less stable levels of blood pressure. Ogihara et al. (1975) did not find a bimodal distribution for serum DBH in the population. They also did not find a relationship between plasma DBH activity and hypertension in any age group. However, highly significant correlations were found for the serum DBH of sib-sib pairs and mean parent-child pairs. No significant correlation was found for father-mother pairs, suggesting that genetic factors are more important than environmental factors. </p><p>Weinshilboum et al. (1975) determined plasma DBH activity in 841 healthy children aged 6 to 12 years and 227 adult blood donors. Approximately 4% of the children and 3% of adults had very low serum DBH activity. Detailed analysis showed a striking familial aggregation of very low serum DBH activity, and the authors concluded autosomal recessive inheritance. No correlation was found with DBH activity and blood pressure in the children. </p><p>Gershon and Goldin (1981) concluded that the family data are consistent with codominant inheritance.</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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Goldin et al. (1982) found evidence for linkage of DBH to ABO on chromosome 9 (maximum lod score of 1.82 at 0.0 and 10% recombination fractions for males and females, respectively). Elston et al. (1979) found a lod score of 2.32 at 0% recombination, giving a combined score of 2.32. Asamoah et al. (1987) studied DBH levels and polymorphic markers in 178 members of a family ascertained through 6 members who had myocardial infarction. The persons with infarction had lower levels of DBH than did others, but the difference was partly confounded with age differences. Segregation analysis suggested that a codominant gene for DBH was segregating in the family. The largest lod score yielded by linkage analysis was 0.53 with ABO at 20% recombination. Adding this to the lod scores obtained by Elston et al. (1979) and Goldin et al. (1982), Asamoah et al. (1987) obtained combined lod scores of 2.49 and 2.50 at 0.0 and 10% recombination, respectively. </p><p>Linkage analysis by Wilson et al. (1987, 1988) yielded a lod score of 5.88 at a recombination fraction of 0.0 for the linkage of DBH and ABO. The DBH gene was not polymorphic in a black family. In studies using RFLPs of the DBH gene, Perry et al. (1991) found no recombination with argininosuccinate synthetase (603470) and ABO blood group loci, with lod scores of 7.37 and 4.5, respectively, at theta = 0.0, confirming mapping of the DBH locus to chromosome 9q34. </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>In 2 unrelated patients with orthostatic hypotension due to dopamine beta-hydroxylase deficiency reported by Robertson et al. (1986) and Biaggioni et al. (1990), Kim et al. (2002) identified compound heterozygosity for mutations in the DBH gene (609312.0002-609312.0004). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
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</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Dunnette and Weinshilboum (1976); Dunnette and Weinshilboum (1977);
|
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Weinshilboum (1979)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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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Asamoah, A., Wilson, A. F., Elston, R. C., Dalferes, E., Jr., Berenson, G. S.
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<strong>Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree.</strong>
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Am. J. Med. Genet. 27: 613-621, 1987.
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[PubMed: 3631133]
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[Full Text: https://doi.org/10.1002/ajmg.1320270314]
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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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Biaggioni, I., Goldstein, D. S., Atkinson, T., Robertson, D.
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<strong>Dopamine-beta-hydroxylase deficiency in humans.</strong>
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Neurology 40: 370-373, 1990.
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[PubMed: 2300263]
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[Full Text: https://doi.org/10.1212/wnl.40.2.370]
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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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Biaggioni, I., Robertson, D.
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<strong>Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency.</strong>
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Lancet 330: 1170-1172, 1987. Note: Originally Volume 2.
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[PubMed: 2890806]
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[Full Text: https://doi.org/10.1016/s0140-6736(87)91317-1]
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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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Dunnette, J., Weinshilboum, R.
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<strong>Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples.</strong>
|
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Am. J. Hum. Genet. 28: 155-166, 1976.
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[PubMed: 57719]
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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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Dunnette, J., Weinshilboum, R.
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<strong>Inheritance of low immunoreactive human plasma dopamine-beta-hydroxylase: radioimmunoassay studies.</strong>
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J. Clin. Invest. 60: 1080-1087, 1977.
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[PubMed: 908751]
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[Full Text: https://doi.org/10.1172/JCI108859]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Elston, R. C., Namboodiri, K. K., Hames, C. G.
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<strong>Segregation and linkage analysis of dopamine-beta-hydroxylase activity.</strong>
|
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Hum. Hered. 29: 284-292, 1979.
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[PubMed: 489028]
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[Full Text: https://doi.org/10.1159/000153059]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gershon, E. S., Goldin, L. R.
|
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<strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT) and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. (Abstract)</strong>
|
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Am. J. Hum. Genet. 33: 136A only, 1981.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Goldin, L. R., Gershon, E. S., Lake, C. R., Murphy, D. L., McGinniss, M., Sparkes, R. S.
|
|
<strong>Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.</strong>
|
|
Am. J. Hum. Genet. 34: 250-262, 1982.
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[PubMed: 6951409]
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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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Kim, C.-H., Zabetian, C. P., Cubells, J. F., Cho, S., Biaggioni, I., Cohen, B. M., Robertson, D., Kim, K.-S.
|
|
<strong>Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.</strong>
|
|
Am. J. Med. Genet. 108: 140-147, 2002.
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[PubMed: 11857564]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Man in't Veld, A. J., Moleman, P., Boomsma, F., Schalekamp, M. A. D. H.
|
|
<strong>Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome.</strong>
|
|
Lancet 329: 183-188, 1987. Note: Originally Volume 1.
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[PubMed: 2880016]
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[Full Text: https://doi.org/10.1016/s0140-6736(87)90002-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mathias, C. J., Bannister, R. B., Cortelli, P., Heslop, K., Polak, J. M., Raimbach, S., Springall, D. R., Watson, L.
|
|
<strong>Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase.</strong>
|
|
Quart. J. Med. 75: 617-633, 1990.
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[PubMed: 2217667]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ogihara, T., Nugent, C. A., Jr., Shen, S.-W., Goldfein, S.
|
|
<strong>Serum dopamine-beta-hydroxylase activity in parents and children.</strong>
|
|
J. Lab. Clin. Med. 85: 566-573, 1975.
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[PubMed: 1120928]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Perry, S. E., Summar, M. L., Phillips, J. A., III, Robertson, D.
|
|
<strong>Linkage analysis of the human dopamine beta-hydroxylase gene.</strong>
|
|
Genomics 10: 493-495, 1991.
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|
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|
|
[PubMed: 2071155]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90339-g]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Robertson, D., Goldberg, M. R., Onrot, J., Hollister, A. S., Wiley, R., Thompson, J. G., Jr., Robertson, R. M.
|
|
<strong>Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine.</strong>
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Robertson, D., Haile, V., Perry, S. E., Robertson, R. M., Phillips, J. A., III, Biaggioni, I.
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<strong>Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation.</strong>
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Ross, S. B., Wetterberg, L., Myrhed, M.
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Schanberg, S. M., Stone, R. A., Kirshner, N., Gunnells, J. C., Robinson, R. R.
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<strong>Plasma dopamine beta-hydroxylase: a possible aid in the study and evaluation of hypertension.</strong>
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Weinshilboum, R. M., Schorott, H. G., Raymond, F. A., Weidman, W. H., Elveback, L. R.
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<strong>Inheritance of very low serum dopamine-beta-hydroxylase activity.</strong>
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Am. J. Hum. Genet. 27: 573-585, 1975.
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Weinshilboum, R. M.
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<strong>Catecholamine biochemical genetics in human populations. In: Breakefield, X. O.: Neurogenetics: Genetic Approaches to the Nervous System.</strong>
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Wilson, A. F., Elston, R. C., Siervogel, R. M., Tran, L. D.
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<strong>Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus. (Abstract)</strong>
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Wilson, A. F., Elston, R. C., Siervogel, R. M., Tran, L. D.
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<strong>Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus.</strong>
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