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Entry
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- #203800 - ALSTROM SYNDROME; ALMS
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- OMIM
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<span class="h4">#203800</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/203800"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#biochemicalFeatures">Biochemical Features</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="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ALSTROM SYNDROME" 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=1328&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/NBK1267/" 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/341" 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/alstrom-syndrome" 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=203800[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=64" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/f9ec2b29-36ed-40f9-8536-75e85d1dd5bd/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050473" 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/203800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002316/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 63702009<br />
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<strong>ORPHA:</strong> 64<br />
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<strong>DO:</strong> 0050473<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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203800
|
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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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ALSTROM SYNDROME; ALMS
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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">
|
|
ALSS
|
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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>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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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</thead>
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<tbody>
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<tr>
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<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/2/364?start=-3&limit=10&highlight=364">
|
|
2p13.1
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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Alstrom syndrome
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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/203800"> 203800 </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>
|
|
<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>
|
|
<span class="mim-font">
|
|
ALMS1
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606844"> 606844 </a>
|
|
</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/203800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/203800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/203800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<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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|
|
|
|
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|
|
|
|
|
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<div>
|
|
<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>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Truncal obesity (onset in childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008915</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248311001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248311001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001956</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, progressive sensorineural <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000408</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000408</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span><br /> -
|
|
Otitis media <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65363002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65363002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H66.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H66.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H66.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H66.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/382.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">382.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029882</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000388</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000388</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cone-rod dystrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4085590&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085590</a>, <a href="https://bioportal.bioontology.org/search?q=C3489532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489532</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000548" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000548</a>]</span><br /> -
|
|
Pigmentary retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551715</a>, <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br /> -
|
|
Photophobia (infancy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859847</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
|
|
Nystagmus (infancy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859848</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
|
|
Subcapsular cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95723009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95723009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235259</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000523" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000523</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000523" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000523</a>]</span><br /> -
|
|
Bull's-eye maculopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424169002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424169002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1828210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1828210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011504" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011504</a>]</span><br /> -
|
|
Waxy optic disc palor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315840</a>]</span><br /> -
|
|
Hyperopia, moderately high <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313002</a>]</span><br /> -
|
|
Central vision loss precedes peripheral visual loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315839</a>]</span><br /> -
|
|
Visual field constriction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1151008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1151008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span><br /> -
|
|
Abnormal cone and rod functions at birth seen on ERG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315838</a>]</span><br /> -
|
|
Nonrecordable ERG after 7 years of age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315837</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gingivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66383009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66383009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017574</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000230</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000230</a>]</span><br /> -
|
|
Discolored enamel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673936&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673936</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
|
|
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|
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|
|
<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> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dilated cardiomyopathy (infancy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842880</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
|
|
Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Atherosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107671003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107671003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72092001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72092001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28960008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28960008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38716007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38716007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">440</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004153</a>, <a href="https://bioportal.bioontology.org/search?q=C0003850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002635</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span><br /> -
|
|
Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Airways </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Asthma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J45.909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J45.909</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J45" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J45</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J45.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J45.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/493.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">493.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/493" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">493</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004096&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004096</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002099</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002099</a>]</span><br /> -
|
|
Recurrent pulmonary infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gynecomastia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4754008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4754008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000771</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatitis, chronic active <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197284004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197284004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200120</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200120</a>]</span><br /> -
|
|
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Hepatic steatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442191002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442191002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197321007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2711227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2711227</a>, <a href="https://bioportal.bioontology.org/search?q=C0015695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</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;">
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nephritis, chronic <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2364010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2364010</a>]</span><br /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
Renal structural anomalies (reported in 1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551596</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012210" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012210</a>]</span><br /> -
|
|
Narrowing of the ureteropelvic junctions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673934</a>]</span><br /> -
|
|
Deformities of the calyceal system <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673935</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Advanced bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123982003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123982003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0545053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0545053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperostosis frontalis interna <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82054006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82054006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004438" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004438</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004438" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004438</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855533</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" 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 />
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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> SKIN, NAILS, & HAIR </strong>
|
|
</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> Skin </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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|
- Acanthosis nigricans <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402599005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402599005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72129000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72129000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</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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<span class="h5 mim-font">
|
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<em> Hair </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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|
|
- Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</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>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</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> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Menstrual irregularities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80182007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80182007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span><br /> -
|
|
Insulin resistant diabetes <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0854110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0854110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000831</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000831</a>]</span><br /> -
|
|
Hypergonadotropic hypogonadism (males) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48723006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48723006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370997001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370997001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1384582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384582</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008720" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008720</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span><br /> -
|
|
Diabetes insipidus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1296758008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1296758008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E23.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E23.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/253.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">253.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1366535&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1366535</a>, <a href="https://bioportal.bioontology.org/search?q=C0011848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000873</a>]</span><br /> -
|
|
Hypothyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40930008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40930008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E03.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/244.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">244.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span><br /> -
|
|
Multinodular goiter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237570007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237570007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005987</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005987</a>]</span><br /> -
|
|
Growth hormone deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397827003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397827003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2109003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2109003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271561</a>, <a href="https://bioportal.bioontology.org/search?q=C3714796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</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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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
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- Hyperinsulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131103005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131103005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83469008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83469008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0852795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0852795</a>, <a href="https://bioportal.bioontology.org/search?q=C0020459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span><br /> -
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Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br /> -
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Hypertriglyceridemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302870006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302870006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166848004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166848004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020557</a>, <a href="https://bioportal.bioontology.org/search?q=C1522137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1522137</a>, <a href="https://bioportal.bioontology.org/search?q=C0813230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span><br /> -
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Normal total cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858309</a>]</span><br /> -
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the ALMS1 gene (ALMS1, <a href="/entry/606844#0001">606844.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Alstrom syndrome (ALMS) is caused by homozygous or compound heterozygous mutation in the ALMS1 gene (<a href="/entry/606844">606844</a>) on chromosome 2p13.</p>
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<div class="mim-changed mim-change"><p>Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure and pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by <a href="#10" class="mim-tip-reference" title="Collin, G. B., Marshall, J. D., Ikeda, A., So, W. V., Russell-Eggitt, I., Maffei, P., Beck, S., Boerkoel, C. F., Sicolo, N., Martin, M., Nishina, P. M., Naggert, J. K. <strong>Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.</strong> Nature Genet. 31: 74-78, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941369</a>] [<a href="https://doi.org/10.1038/ng867" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941369">Collin et al., 2002</a>; <a href="#20" class="mim-tip-reference" title="Marshall, J. D., Hinman, E. G., Collin, G. B., Beck, S., Cerqueira, R., Maffei, P., Milan, G., Zhang, W., Wilson, D. I., Hearn, T., Tavares, P., Vettor, R., Veronese, C., Martin, M., So, W. V., Nishina, P. M., Naggert, J. K. <strong>Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome.</strong> Hum. Mutat. 28: 1114-1123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17594715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17594715</a>] [<a href="https://doi.org/10.1002/humu.20577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17594715">Marshall et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11941369+17594715" 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></div>
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<div class="mim-changed mim-change"><p>Although Alstrom syndrome bears many similarities (retinitis pigmentosa, deafness, obesity, and diabetes mellitus) to the Bardet-Biedl syndrome (<a href="/entry/209900">209900</a>), there is no mental defect, polydactyly, or hypogonadism (<a href="#1" class="mim-tip-reference" title="Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H. <strong>Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome: a clinical endocrinological and genetic examination based on a large pedigree.</strong> Acta Psychiat. Neurol. Scand. Suppl. 129: 1-35, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13649370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13649370</a>]" pmid="13649370">Alstrom et al., 1959</a>). The retinal lesion causes nystagmus and early loss of central vision in contrast to loss of peripheral vision first, as in other pigmentary retinopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13649370" 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></div>
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<div class="mim-changed mim-change"><p><a href="#31" class="mim-tip-reference" title="Weinstein, R. L., Kliman, B., Scully, R. E. <strong>Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.</strong> New Eng. J. Med. 281: 969-977, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5824738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5824738</a>] [<a href="https://doi.org/10.1056/NEJM196910302811801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5824738">Weinstein et al. (1969)</a> described 2 brothers with a disorder that they suggested 'resembles that described by Alstrom and his co-workers.' In spite of the presence of small testes and elevated urinary gonadotropin levels, secondary sexual characteristics were normal. Associated findings were blindness, deafness, obesity, and several metabolic abnormalities including hyperuricemia and elevated serum triglyceride and pre-beta-lipoprotein. <a href="#30" class="mim-tip-reference" title="Warren, S. E., Schnitt, S. J., Bauman, A. J., Gianelly, R. E., Landsberg, L., Baim, D. S. <strong>Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities.</strong> Am. Heart J. 114: 1522-1524, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3687707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3687707</a>] [<a href="https://doi.org/10.1016/0002-8703(87)90561-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3687707">Warren et al. (1987)</a> gave follow-up on the brothers reported by <a href="#31" class="mim-tip-reference" title="Weinstein, R. L., Kliman, B., Scully, R. E. <strong>Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.</strong> New Eng. J. Med. 281: 969-977, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5824738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5824738</a>] [<a href="https://doi.org/10.1056/NEJM196910302811801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5824738">Weinstein et al. (1969)</a>. Both developed manifestations of dilated cardiomyopathy at about the same age, 36 and 37 years. Myocardial fibrosis was demonstrated at autopsy and on myocardial biopsy; not enough in the way of coronary artery disease was found to explain the heart disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5824738+3687707" 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></div>
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<p><a href="#5" class="mim-tip-reference" title="Charles, S. J., Moore, A. T., Yates, J. R. W., Green, T., Clark, P. <strong>Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.</strong> J. Med. Genet. 27: 590-592, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2231654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2231654</a>] [<a href="https://doi.org/10.1136/jmg.27.9.590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2231654">Charles et al. (1990)</a> described Alstrom syndrome in the offspring of a couple related as first cousins once removed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2231654" 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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<div class="mim-changed mim-change"><p><a href="#12" class="mim-tip-reference" title="Connolly, M. B., Jan, J. E., Couch, R. M., Wong, L. T. K., Dimmick, J. E., Rigg, J. M. <strong>Hepatic dysfunction in Alstrom disease.</strong> Am. J. Med. Genet. 40: 421-424, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1746604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1746604</a>] [<a href="https://doi.org/10.1002/ajmg.1320400408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1746604">Connolly et al. (1991)</a> described an 11-year-old girl from an isolated Mennonite community in British Columbia who, in addition to having pigmentary retinopathy, sensorineural deafness, obesity, type 2 diabetes mellitus, hyperlipidemia, and acanthosis nigricans, developed chronic active hepatitis at the age of 8 years. This disorder is unusually frequent among French Acadians, both those living in Yarmouth County, Nova Scotia, and in Louisiana, where the syndrome may have been confused with Bardet-Biedl syndrome. See later for a description of Acadian cases (<a href="#21" class="mim-tip-reference" title="Marshall, J. D., Ludman, M. D., Shea, S. E., Salisbury, S. R., Willi, S. M., LaRoche, R. G., Nishina, P. M. <strong>Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families.</strong> Am. J. Med. Genet. 73: 150-161, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9409865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9409865</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9409865">Marshall et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9409865+1746604" 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></div>
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<p><a href="#2" class="mim-tip-reference" title="Alter, C. A., Moshang, T., Jr. <strong>Growth hormone deficiency in two siblings with Alstrom syndrome.</strong> Am. J. Dis. Child. 147: 97-99, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8418611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8418611</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160250099030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8418611">Alter and Moshang (1993)</a> described an 11.5-year-old boy and his 9-year and 10-month-old sister with Alstrom disease. Both had deficiency of growth hormone as indicated by deficient response to provocative tests as well as by low concentrations in frequent overnight samplings of serum growth hormone. However, the patients had advanced bone ages, normal early growth, and normal concentrations of IGF1. Glucose tolerance tests demonstrated marked elevations of insulin and glucose intolerance consistent with insulin resistance. In addition to early pigmentary degeneration of the retina and neurosensory hearing loss and obesity, the boy had acanthosis nigricans. Both were of normal intelligence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8418611" 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="#6" class="mim-tip-reference" title="Cohen, J., Kisch, E. S. <strong>The Alstrom syndrome: a new variant?</strong> Israel J. Med. Sci. 30: 234-236, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8181924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8181924</a>]" pmid="8181924">Cohen and Kisch (1994)</a> described 2 sisters and a brother with a possible variant form of Alstrom syndrome. The 3 sibs examined by <a href="#6" class="mim-tip-reference" title="Cohen, J., Kisch, E. S. <strong>The Alstrom syndrome: a new variant?</strong> Israel J. Med. Sci. 30: 234-236, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8181924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8181924</a>]" pmid="8181924">Cohen and Kisch (1994)</a> and a fourth sib who was not available for study presented the features incorporated in the original description of the syndrome (retinal degeneration, diabetes mellitus, and neural deafness), but all had onset much later than in previously reported patients and all were fertile, producing normal offspring, in contrast to the statement of <a href="#23" class="mim-tip-reference" title="Millay, R. H., Weleber, R. G., Heckenlively, J. R. <strong>Ophthalmologic and systemic manifestations of Alstrom's disease.</strong> Am. J. Ophthal. 102: 482-490, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3766665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3766665</a>] [<a href="https://doi.org/10.1016/0002-9394(86)90078-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3766665">Millay et al. (1986)</a> who, in reviewing 15 cases of Alstrom syndrome, stated that 'no patient with Alstrom's disease, male or female, has ever been known to reproduce.' In closely studied cases, the diagnosis of diabetes was preceded by or coincided with neuropathic complaints, possibly linking the nerve deafness with a common vulnerability of the nervous system within this syndrome. Insulin resistance was suggested by elevated fasting insulin levels. The affected male became hypergonadal at a later age, consistent with late onset of components of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8181924+3766665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Aynaci, F. M., Okten, A., Mocan, H., Gedik, Y., Sarpkaya, A. O. <strong>A case of Alstrom syndrome associated with diabetes insipidus. (Letter)</strong> Clin. Genet. 48: 164-166, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8556827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8556827</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04080.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8556827">Aynaci et al. (1995)</a> described diabetes insipidus in association with Alstrom syndrome in a 16-year-old male patient. One sib who was probably affected died at 3 years of age. Features of Alstrom syndrome included blindness from an early age, with retinal atrophy, profound obesity, and diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8556827" 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="Awazu, M., Tanaka, T., Sato, S., Anzo, M., Higuchi, M., Yamazaki, K., Matsuo, N. <strong>Hepatic dysfunction in two sibs with Alstrom syndrome: case report and review of the literature.</strong> Am. J. Med. Genet. 69: 13-16, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066877</a>]" pmid="9066877">Awazu et al. (1997)</a> described hepatic dysfunction in a brother and sister with Alstrom syndrome. The brother developed elevation of liver enzymes at 29 years of age. Liver biopsy showed fatty liver, lymphocytic infiltration, and piecemeal necrosis. The sister had elevated gamma-glutamyltransferase (<a href="/entry/137181">137181</a>) levels from the age of 10 years. She developed ascites, esophageal varices, and splenomegaly in her twenties. She died at 26 years of age and autopsy confirmed the presence of cirrhosis. <a href="#3" class="mim-tip-reference" title="Awazu, M., Tanaka, T., Sato, S., Anzo, M., Higuchi, M., Yamazaki, K., Matsuo, N. <strong>Hepatic dysfunction in two sibs with Alstrom syndrome: case report and review of the literature.</strong> Am. J. Med. Genet. 69: 13-16, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066877</a>]" pmid="9066877">Awazu et al. (1997)</a> found reports of 2 Japanese patients with Alstrom syndrome who had liver cirrhosis. Liver involvement in Alstrom syndrome appears to have been first described by <a href="#12" class="mim-tip-reference" title="Connolly, M. B., Jan, J. E., Couch, R. M., Wong, L. T. K., Dimmick, J. E., Rigg, J. M. <strong>Hepatic dysfunction in Alstrom disease.</strong> Am. J. Med. Genet. 40: 421-424, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1746604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1746604</a>] [<a href="https://doi.org/10.1002/ajmg.1320400408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1746604">Connolly et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9066877+1746604" 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="#21" class="mim-tip-reference" title="Marshall, J. D., Ludman, M. D., Shea, S. E., Salisbury, S. R., Willi, S. M., LaRoche, R. G., Nishina, P. M. <strong>Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families.</strong> Am. J. Med. Genet. 73: 150-161, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9409865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9409865</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9409865">Marshall et al. (1997)</a> described a large Acadian kindred with 8 patients with Alstrom syndrome, ranging in age from 4 to 26 years at the time of clinical assessment. The affected individuals came from 5 nuclear families within this kindred and were descendants of a common ancestral pair. The single ancestral pair was shared by all 10 parents of the 5 sibships. The phenotype included early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with normal cholesterol levels were observed in most affected individuals tested. Noninsulin-dependent diabetes mellitus (NIDDM) and growth retardation appeared to be age-related manifestations that occurred after adolescence. Younger affected children were not overtly hyperglycemic and were normal or above average height for age. Of the 8 children, 4 had scoliosis, 2 had had infantile cardiomyopathy, 2 were hypothyroid, 1 had hepatic dysfunction and was hypertensive, and 4 developed asthma. Seven of the 8 exhibited developmental delay. All subjects tested showed advanced bone age. <a href="#21" class="mim-tip-reference" title="Marshall, J. D., Ludman, M. D., Shea, S. E., Salisbury, S. R., Willi, S. M., LaRoche, R. G., Nishina, P. M. <strong>Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families.</strong> Am. J. Med. Genet. 73: 150-161, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9409865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9409865</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9409865">Marshall et al. (1997)</a> reviewed 49 cases of Alstrom syndrome reported since the first description by <a href="#1" class="mim-tip-reference" title="Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H. <strong>Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome: a clinical endocrinological and genetic examination based on a large pedigree.</strong> Acta Psychiat. Neurol. Scand. Suppl. 129: 1-35, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13649370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13649370</a>]" pmid="13649370">Alstrom et al. (1959)</a>. The large pedigree from which the 8 individuals were derived contained at least 10 other cases of Alstrom syndrome. Members of the kindred had previously been reported by <a href="#29" class="mim-tip-reference" title="Tremblay, F., LaRoche, R. G., Shea, S. E., Ludman, M. D. <strong>Longitudinal study of the early electroretinographic changes in Alstrom's syndrome.</strong> Am. J. Ophthal. 115: 657-665, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8488920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8488920</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)71466-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8488920">Tremblay et al. (1993)</a>. The patients described by <a href="#2" class="mim-tip-reference" title="Alter, C. A., Moshang, T., Jr. <strong>Growth hormone deficiency in two siblings with Alstrom syndrome.</strong> Am. J. Dis. Child. 147: 97-99, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8418611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8418611</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160250099030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8418611">Alter and Moshang (1993)</a> were also from this kindred. <a href="#21" class="mim-tip-reference" title="Marshall, J. D., Ludman, M. D., Shea, S. E., Salisbury, S. R., Willi, S. M., LaRoche, R. G., Nishina, P. M. <strong>Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families.</strong> Am. J. Med. Genet. 73: 150-161, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9409865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9409865</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9409865">Marshall et al. (1997)</a> provided a useful 'time line' (their Figure 3) for the clinical manifestations seen consistently and findings present in some but not all Alstrom syndrome patients as age progresses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8488920+9409865+8418611+13649370" 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="#22" class="mim-tip-reference" title="Michaud, J. L., Heon, E., Guilbert, F., Weill, J., Puech, B., Benson, L., Smallhorn, J. F., Shuman, C. T., Buncic, J. R., Levin, A. V., Weksberg, R., Breviere, G. M. <strong>Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy.</strong> J. Pediat. 128: 225-229, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636816</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70394-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636816">Michaud et al. (1996)</a> described the natural history of Alstrom syndrome in 8 patients followed 2 to 22 years. Five patients in 4 families were seen between the ages of 3 weeks and 4 months with dilated cardiomyopathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented between the ages of 5 and 15 months. Electroretinogram (ERG) initially showed a severe cone impairment with mild (2 of 8) or no (6 of 8) rod involvement. Repeat ERGs obtained between ages 9 and 22 years in 4 patients revealed extinguished rod and cone responses. Obesity developed in childhood in 7 patients, in 3 before age 2 years. Hearing impairment (5 of 8) and diabetes/glucose intolerance (4 of 8) were diagnosed by the end of the first or during the second decade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8636816" 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="#27" class="mim-tip-reference" title="Russell-Eggitt, I. M., Clayton, P. T., Coffey, R., Kriss, A., Taylor, D. S. I., Taylor, J. F. N. <strong>Alstrom syndrome: report of 22 cases and literature review.</strong> Ophthalmology 105: 1274-1280, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9663233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9663233</a>] [<a href="https://doi.org/10.1016/S0161-6420(98)97033-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9663233">Russell-Eggitt et al. (1998)</a> stated that 37 cases of Alstrom syndrome had been reported in the world literature since 1959. They reviewed the clinical features of 22 cases, the largest series to that time, and compared them with those of Bardet-Biedl syndrome (<a href="/entry/209900">209900</a>). The 22 patients had been admitted to the Great Ormond Street Hospital for Children in London during the previous 10 years. Remarkably, 18 of the 22 cases had infantile cardiomyopathy. <a href="#27" class="mim-tip-reference" title="Russell-Eggitt, I. M., Clayton, P. T., Coffey, R., Kriss, A., Taylor, D. S. I., Taylor, J. F. N. <strong>Alstrom syndrome: report of 22 cases and literature review.</strong> Ophthalmology 105: 1274-1280, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9663233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9663233</a>] [<a href="https://doi.org/10.1016/S0161-6420(98)97033-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9663233">Russell-Eggitt et al. (1998)</a> pointed out that at their institution there was an ascertainment bias toward younger patients and especially those with pathology such as cardiomyopathy. Alstrom syndrome in childhood is difficult to recognize without the development of infantile cardiomyopathy. Indeed, the disorder is often not recognized until diabetes mellitus develops in the second or third decade. There is a severe infantile retinal dystrophy. The ERG is absent or attenuated with better preserved rod than cone function. The retinal dystrophy is progressive, with the patient's visual acuity of 6/60 or less by 10 years of age and no light perception by 20 years of age. The diagnosis of Alstrom syndrome should be considered in infantile cone and rod retinal dystrophy, particularly if the weight is above the 90th percentile (as it was in 16 of 18 cases) or if there is infantile cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9663233" 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="#25" class="mim-tip-reference" title="Quiros-Tejeira, R. E., Vargas, J., Ament, M. E. <strong>Early-onset liver disease complicated with acute liver failure in Alstrom syndrome.</strong> Am. J. Med. Genet. 101: 9-11, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343329</a>] [<a href="https://doi.org/10.1002/ajmg.1292" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343329">Quiros-Tejeira et al. (2001)</a> reported a patient with Alstrom syndrome with evidence of extensive hepatic disease diagnosed at 5 years of age, who subsequently developed acute liver failure and died at 8 years of age. They raised the possibility of a mitochondrial defect in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343329" 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="#24" class="mim-tip-reference" title="Ozgul, R. K., Satman, I., Collin, G. B., Hinman, E. G., Marshall, J. D., Kocaman, O., Tutuncu, Y., Yilmaz, T., Naggert, J. K. <strong>Molecular analysis and long-term clinical evaluation of three siblings with Alstrom syndrome.</strong> Clin. Genet. 72: 351-356, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850632</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00848.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17850632">Ozgul et al. (2007)</a> reported 3 Turkish sisters with Alstrom syndrome who had been followed clinically for 20 years. All had early-onset retinal degeneration with no light perception, cataracts, truncal obesity, hyperlipidemia, alopecia, and hyperostosis frontalis interna. Other features included mildly increased serum cortisol, renal failure, oligomenorrhea, recurrent pulmonary infections, insulin resistance, and hepatomegaly. All had urologic anomalies, including narrowing of the ureteropelvic junctions and deformities of the calyceal system. Renal biopsy in 1 patient showed mesangial proliferative glomerulopathy with hyaline arteriosclerosis and mild interstitial fibrosis. Two developed sensorineural hearing loss. Age at onset of diabetes, blindness, and renal failure differed among the girls, suggesting the influence of other genes or environmental factors. Unusual features included pes planus, gingivitis, light yellow-brown discolored enamel on the anterior teeth, multinodular goiter, and the structural renal anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850632" 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="#19" class="mim-tip-reference" title="Marshall, J. D., Beck, S., Maffei, P., Naggert, J. K. <strong>Alstrom syndrome.</strong> Europ. J. Hum. Genet. 15: 1193-1202, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17940554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17940554</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201933" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17940554">Marshall et al. (2007)</a> stated that approximately 450 cases of Alstrom syndrome had been diagnosed since the condition was first described in 1959. They reviewed the clinical features, diagnostic criteria, and management of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17940554" 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="#15" class="mim-tip-reference" title="Khan, A. O., Bifari, I. N., Bolz, H. J. <strong>Ophthalmic features of children not yet diagnosed with Alstrom syndrome.</strong> Ophthalmology 122: 1726-1727, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25864795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25864795</a>] [<a href="https://doi.org/10.1016/j.ophtha.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25864795">Khan et al. (2015)</a> described the clinical ocular features of 19 consecutive children in a retrospective case series (2010-2014) before they were diagnosed with Alstrom syndrome. All of the children, referred at age 2 to 18 years (median, 3 years), were noted to have had nystagmus in the first few months of life, significant photophobia within the first year of life, and symmetric hyperopia at presentation (3.50-8.00 diopters; median 5.5). Twelve were seen at 2 to 3 years of age, at which time most had a normal or near-normal fundus appearance. ERGs, always recordable at this age (and up to age 7 years), showed cone-rod dysfunction, often with a nearly electronegative waveform. Children older than age 7 years had retinal pigment epithelium mottling typically without intraretinal pigment migration, bull's eye maculopathy, waxy disc pallor, and nonrecordable ERGs. Bilateral posterior subcapsular cataract was noted in 5 older children, aged 12 to 16 years. At initial presentation, 11 of the 19 children had one or more extraocular features typical of Alstrom syndrome (excluding obesity), but 8 of the 19 had only ophthalmic findings (excluding obesity). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25864795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>From the pedigree data of <a href="#1" class="mim-tip-reference" title="Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H. <strong>Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome: a clinical endocrinological and genetic examination based on a large pedigree.</strong> Acta Psychiat. Neurol. Scand. Suppl. 129: 1-35, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13649370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13649370</a>]" pmid="13649370">Alstrom et al. (1959)</a>, autosomal recessive inheritance seemed likely. <a href="#13" class="mim-tip-reference" title="Goldstein, J. L., Fialkow, P. J. <strong>The Alstrom syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder.</strong> Medicine 52: 53-71, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4689172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4689172</a>] [<a href="https://doi.org/10.1097/00005792-197301000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4689172">Goldstein and Fialkow (1973)</a> concluded that autosomal recessive inheritance is indisputable. They described 3 affected sisters and pointed out that a slowly progressive chronic nephropathy and acanthosis nigricans are features. Diabetes mellitus in this condition is the result of resistance to the action of insulin. Target organ unresponsiveness to the action of other polypeptide hormones, including vasopressin and gonadotropins, is suspected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4689172+13649370" 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="#26" class="mim-tip-reference" title="Rudiger, H. W., Ahrens, P., Dreyer, M., Frorath, B., Loffel, C., Schmidt-Preuss, U. <strong>Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.</strong> Hum. Genet. 69: 76-78, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2578425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2578425</a>] [<a href="https://doi.org/10.1007/BF00295533" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2578425">Rudiger et al. (1985)</a> demonstrated that in Alstrom syndrome cultured fibroblasts have normal insulin-receptor binding and normal insulin stimulation of both glucose uptake, an early effect, and RNA synthesis, a late effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2578425" 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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<div class="mim-changed mim-change"><p><a href="#16" class="mim-tip-reference" title="Lee, N.-C., Marshall, J. D., Collin, G. B., Naggert, J. K., Chien, Y.-H., Tsai, W.-Y., Hwu, W.-L. <strong>Caloric restriction in Alstrom syndrome prevents hyperinsulinemia.</strong> Am. J. Med. Genet. 149A: 666-668, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19283853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19283853</a>] [<a href="https://doi.org/10.1002/ajmg.a.32730" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19283853">Lee et al. (2009)</a> described an 18-month-old Taiwanese boy with Alstrom syndrome in whom they identified a 19-bp deletion in exon 16 of the ALMS1 gene that had previously been found in another Taiwanese family with Alstrom syndrome (<a href="#20" class="mim-tip-reference" title="Marshall, J. D., Hinman, E. G., Collin, G. B., Beck, S., Cerqueira, R., Maffei, P., Milan, G., Zhang, W., Wilson, D. I., Hearn, T., Tavares, P., Vettor, R., Veronese, C., Martin, M., So, W. V., Nishina, P. M., Naggert, J. K. <strong>Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome.</strong> Hum. Mutat. 28: 1114-1123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17594715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17594715</a>] [<a href="https://doi.org/10.1002/humu.20577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17594715">Marshall et al., 2007</a>). The boy, who was obese but had normal insulin and glucose levels at 9 months of age, was begun on calorie restriction; over the next 9 months, his body mass index decreased from 25.0 to 20.7 and at 18 months of age his insulin and glucose levels remained normal. <a href="#16" class="mim-tip-reference" title="Lee, N.-C., Marshall, J. D., Collin, G. B., Naggert, J. K., Chien, Y.-H., Tsai, W.-Y., Hwu, W.-L. <strong>Caloric restriction in Alstrom syndrome prevents hyperinsulinemia.</strong> Am. J. Med. Genet. 149A: 666-668, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19283853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19283853</a>] [<a href="https://doi.org/10.1002/ajmg.a.32730" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19283853">Lee et al. (2009)</a> suggested that hyperinsulinemia is a secondary event in Alstrom syndrome that can be prevented with early treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19283853+17594715" 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></div>
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<p>As a result of a linkage study in a large French Acadian kindred with Alstrom syndrome and because of evidence of founder effect, <a href="#9" class="mim-tip-reference" title="Collin, G. B., Marshall, J. D., Cardon, L. R., Nishina, P. M. <strong>Homozygosity mapping of Alstrom syndrome to chromosome 2p.</strong> Hum. Molec. Genet. 6: 213-219, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063741</a>] [<a href="https://doi.org/10.1093/hmg/6.2.213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063741">Collin et al. (1997)</a> were able to use homozygosity mapping to identify the disease locus. In a genomewide screen, haplotype sharing for a region on chromosome 2 was observed in all affected individuals. Two-point linkage analysis resulted in a maximum lod score of 3.84 at theta = 0.00 for marker D2S292. By testing additional markers, the disease gene was localized to a 14.9 cM region on 2p14-p13 (see Figure 3 of <a href="#9" class="mim-tip-reference" title="Collin, G. B., Marshall, J. D., Cardon, L. R., Nishina, P. M. <strong>Homozygosity mapping of Alstrom syndrome to chromosome 2p.</strong> Hum. Molec. Genet. 6: 213-219, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063741</a>] [<a href="https://doi.org/10.1093/hmg/6.2.213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063741">Collin et al., 1997</a>). In a North African family in Algeria, <a href="#18" class="mim-tip-reference" title="Macari, F., Lautier, C., Girardet, A., Dadoun, F., Darmon, P., Dutour, A., Renard, E., Bouvagnet, P., Claustres, M., Oliver, C., Grigorescu, F. <strong>Refinement of genetic localization of the Alstrom syndrome on chromosome 2p12-13 by linkage analysis in a North African family.</strong> Hum. Genet. 103: 658-661, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9921899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9921899</a>] [<a href="https://doi.org/10.1007/s004390050887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9921899">Macari et al. (1998)</a> refined the localization of the Alstrom syndrome locus to 2p13-p12, reducing the genetic interval to 6.1 cM. <a href="#8" class="mim-tip-reference" title="Collin, G. B., Marshall, J. D., Boerkoel, C. F., Levin, A. V., Weksberg, R., Greenberg, J., Michaud, J. L., Naggert, J. K., Nishina, P. M. <strong>Alstrom syndrome: further evidence for linkage to human chromosome 2p13.</strong> Hum. Genet. 105: 474-479, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598815</a>] [<a href="https://doi.org/10.1007/s004390051133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10598815">Collin et al. (1999)</a> confirmed the mapping to 2p13 by performing a linkage study in 12 additional families. A maximum 2-point lod score of 7.13 (theta = 0.00) for marker D2S2110 and a maximum cumulative multipoint lod score of 9.16 for marker D2S2110 were observed. Meiotic recombination events localized the critical region containing the ALMS1 locus to a 6.1-cM interval flanked by markers D2S327 and D2S286. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10598815+9921899+9063741" 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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<div class="mim-changed mim-change"><p>In affected members of 6 unrelated families with Alstrom syndrome, <a href="#10" class="mim-tip-reference" title="Collin, G. B., Marshall, J. D., Ikeda, A., So, W. V., Russell-Eggitt, I., Maffei, P., Beck, S., Boerkoel, C. F., Sicolo, N., Martin, M., Nishina, P. M., Naggert, J. K. <strong>Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.</strong> Nature Genet. 31: 74-78, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941369</a>] [<a href="https://doi.org/10.1038/ng867" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941369">Collin et al. (2002)</a> identified homozygous or compound heterozygous mutations in the ALMS1 gene (see, e.g., <a href="/entry/606844#0001">606844.0001</a>-<a href="/entry/606844#0003">606844.0003</a>). The authors suggested that the ALMS1 gene probably interacts with genetic modifiers, as subsets of affected individuals present with additional features such as dilated cardiomyopathy (<a href="#22" class="mim-tip-reference" title="Michaud, J. L., Heon, E., Guilbert, F., Weill, J., Puech, B., Benson, L., Smallhorn, J. F., Shuman, C. T., Buncic, J. R., Levin, A. V., Weksberg, R., Breviere, G. M. <strong>Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy.</strong> J. Pediat. 128: 225-229, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636816</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70394-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636816">Michaud et al., 1996</a>), hepatic dysfunction (<a href="#12" class="mim-tip-reference" title="Connolly, M. B., Jan, J. E., Couch, R. M., Wong, L. T. K., Dimmick, J. E., Rigg, J. M. <strong>Hepatic dysfunction in Alstrom disease.</strong> Am. J. Med. Genet. 40: 421-424, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1746604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1746604</a>] [<a href="https://doi.org/10.1002/ajmg.1320400408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1746604">Connolly et al., 1991</a>), hypothyroidism (<a href="#5" class="mim-tip-reference" title="Charles, S. J., Moore, A. T., Yates, J. R. W., Green, T., Clark, P. <strong>Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.</strong> J. Med. Genet. 27: 590-592, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2231654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2231654</a>] [<a href="https://doi.org/10.1136/jmg.27.9.590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2231654">Charles et al., 1990</a>), male hypogonadism, short stature, and mild to moderate developmental delay, and with secondary complications normally associated with type 2 diabetes, such as hyperlipidemia and atherosclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11941369+8636816+2231654+1746604" 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></div>
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<p><a href="#14" class="mim-tip-reference" title="Hearn, T., Renforth, G. L., Spalluto, C., Hanley, N. A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J. F. N., Russell-Eggitt, I., Bonneau, D., Walker, M., Wilson, D. I. <strong>Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.</strong> Nature Genet. 31: 79-83, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941370</a>] [<a href="https://doi.org/10.1038/ng874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941370">Hearn et al. (2002)</a> studied an individual with Alstrom syndrome carrying a familial balanced reciprocal chromosome translocation involving the previously implicated Alstrom critical region: 46,XY,t(2;11)(p13;q21)mat. They postulated that this individual was a compound heterozygote, carrying one copy of the gene disrupted by the translocation and the other copy disrupted by an intragenic mutation. They mapped the 2p13 breakpoint on the maternal allele to a genomic fragment of 1.7 kb which contained exon 4 and the start of exon 5 of the ALMS1 gene; in the paternal copy of the gene, they detected a frameshift mutation. In 7 affected families, <a href="#14" class="mim-tip-reference" title="Hearn, T., Renforth, G. L., Spalluto, C., Hanley, N. A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J. F. N., Russell-Eggitt, I., Bonneau, D., Walker, M., Wilson, D. I. <strong>Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.</strong> Nature Genet. 31: 79-83, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941370</a>] [<a href="https://doi.org/10.1038/ng874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941370">Hearn et al. (2002)</a> detected 6 different truncating mutations in the ALMS1 gene (see, e.g., <a href="/entry/606844#0004">606844.0004</a>-<a href="/entry/606844#0006">606844.0006</a>). <a href="#14" class="mim-tip-reference" title="Hearn, T., Renforth, G. L., Spalluto, C., Hanley, N. A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J. F. N., Russell-Eggitt, I., Bonneau, D., Walker, M., Wilson, D. I. <strong>Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.</strong> Nature Genet. 31: 79-83, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941370</a>] [<a href="https://doi.org/10.1038/ng874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941370">Hearn et al. (2002)</a> stated that ALMS1 was the first autosomal recessive human disease gene to be identified as a result of a balanced reciprocal translocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941370" 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="#20" class="mim-tip-reference" title="Marshall, J. D., Hinman, E. G., Collin, G. B., Beck, S., Cerqueira, R., Maffei, P., Milan, G., Zhang, W., Wilson, D. I., Hearn, T., Tavares, P., Vettor, R., Veronese, C., Martin, M., So, W. V., Nishina, P. M., Naggert, J. K. <strong>Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome.</strong> Hum. Mutat. 28: 1114-1123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17594715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17594715</a>] [<a href="https://doi.org/10.1002/humu.20577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17594715">Marshall et al. (2007)</a> identified a total of 79 mutations in the ALMS1 gene, including 55 novel mutations, among 250 individuals with a clinical diagnosis of Alstrom syndrome from 206 unrelated kindreds. There were 32 mutations in exon 16, 19 mutations in exon 10, and 17 mutations in exon 8, suggesting that these regions represent mutation hotspots. The most common allele was a 1-bp deletion (10775delC; <a href="/entry/606844#0003">606844.0003</a>), identified in 12% of mutated alleles. Common haplotypes were observed in kindreds of English descent who carried this allele, suggesting a founder effect. A genotype-phenotype correlation analysis in a subset of 58 patients found a trend for disease-causing variants in exon 16 and a more severe phenotype. These patients tended to have onset of retinal degeneration before age 1 year (p = 0.02), urologic dysfunction (p = 0.02), dilated cardiomyopathy (p = 0.03), and diabetes (p = 0.03). A significant association was found between alterations in exon 8 and absent, mild, or delayed renal disease (p = 0.0007). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17594715" 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 3 Turkish sisters with Alstrom syndrome, <a href="#24" class="mim-tip-reference" title="Ozgul, R. K., Satman, I., Collin, G. B., Hinman, E. G., Marshall, J. D., Kocaman, O., Tutuncu, Y., Yilmaz, T., Naggert, J. K. <strong>Molecular analysis and long-term clinical evaluation of three siblings with Alstrom syndrome.</strong> Clin. Genet. 72: 351-356, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850632</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00848.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17850632">Ozgul et al. (2007)</a> identified a homozygous mutation in the ALMS1 gene (<a href="/entry/606844#0007">606844.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850632" 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 cousins with Alstrom syndrome from a consanguineous Turkish pedigree, <a href="#28" class="mim-tip-reference" title="Taskesen, M., Collin, G. B., Evsikov, A. V., Guzel, A., Ozgul, R. K., Marshall, J. D., Naggert, J. K. <strong>Novel Alu retrotransposon insertion leading to Alstrom syndrome.</strong> Hum. Genet. 131: 407-413, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21877133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21877133</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21877133[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-011-1083-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21877133">Taskesen et al. (2012)</a> identified homozygosity for insertion of a novel Alu retrotransposon into exon 16 of the ALMS1 gene (<a href="/entry/606844#0008">606844.0008</a>). The severely affected male proband was totally blind and had bilateral sensorineural hearing loss, truncal obesity, short stature, mild hypertension, hypogonadism, insulin resistance, hyperinsulinemia, type 2 diabetes mellitus, hyperlipidemia, subclinical hypothyroidism, left ventricular hypertrophy, hepatosplenomegaly, and renal failure; he died at 14 years of age of multiple organ failure after an episode of acute gastroenteritis. He had 4 older brothers who had died of unknown causes within the first year of life. His 6-year-old female cousin developed vision loss and obesity in early childhood and had hypertriglyceridemia but otherwise normal hepatic, pulmonary, cardiac, and renal function and normal hearing. She had an older brother who had died at 6 months of age from unknown causes. The ALMS1(Alu) allele was detected in 2 (6.9%) of 29 unaffected individuals from the same Turkish village as the affected pedigree, but was not found in 50 unrelated Turkish controls. No clinical features consistent with Alstrom syndrome had been reported in previous generations of the pedigree, and no other affected individuals were identified in the village. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21877133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Exclusion Studies</em></strong>
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<p><a href="#11" class="mim-tip-reference" title="Collin, G. B., Marshall, J. D., Naggert, J. K., Nishina, P. M. <strong>TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (Letter)</strong> Clin. Genet. 55: 61-62, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10066034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10066034</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1999.550111.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10066034">Collin et al. (1999)</a> excluded the transforming growth factor-alpha gene (<a href="/entry/190170">190170</a>) as a candidate for Alstrom syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10066034" 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="#7" class="mim-tip-reference" title="Collin, G. B., Cyr, E., Bronson, R., Marshall, J. D., Gifford, E. J., Hicks, W., Murray, S. A., Zheng, Q. Y., Smith, R. S., Nishina, P. M., Naggert, J. K. <strong>Alms1-disrupted mice recapitulate human Alstrom syndrome.</strong> Hum. Molec. Genet. 14: 2323-2333, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000322</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16000322[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddi235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16000322">Collin et al. (2005)</a> generated a mouse model of Alstrom syndrome using an Alms1 gene-trapped ES cell line. Alms1 -/- mice developed features similar to human patients with ALMS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction, and late-onset hearing loss. Insulin resistance and increased body weight were apparent at 8 to 12 weeks of age, with hyperglycemia manifesting at 16 weeks of age. Alms1 -/- mice displayed abnormal auditory brainstem responses after 8 months of age. Diminished cone ERG b-wave response was observed early, followed by the degeneration of photoreceptor cells. Electron microscopy revealed accumulation of intracellular vesicles in the inner segments of photoreceptors, whereas immunohistochemical analysis showed mislocalization of rhodopsin (RHO; <a href="/entry/180380">180380</a>) to the outer nuclear layer. <a href="#7" class="mim-tip-reference" title="Collin, G. B., Cyr, E., Bronson, R., Marshall, J. D., Gifford, E. J., Hicks, W., Murray, S. A., Zheng, Q. Y., Smith, R. S., Nishina, P. M., Naggert, J. K. <strong>Alms1-disrupted mice recapitulate human Alstrom syndrome.</strong> Hum. Molec. Genet. 14: 2323-2333, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000322</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16000322[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddi235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16000322">Collin et al. (2005)</a> suggested that ALMS1 may play a role in intracellular trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16000322" 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="#17" class="mim-tip-reference" title="Li, G., Vega, R., Nelms, K., Gekakis, N., Goodnow, C., McNamara, P., Wu, H., Hong, N. A., Glynne, R. <strong>A role for Alstrom syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence.</strong> PLoS Genet. 3: e8, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17206865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17206865</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17206865[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.0030008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17206865">Li et al. (2007)</a> studied a mouse model of Alstrom syndrome in which the Alms1 protein was prematurely terminated at 2,130 amino acids. Primary fibroblasts and kidney cells from homozygous mutant mice expressed both mutant mRNA and protein, and they showed normal primary cilia and normal localization of the mutant protein. Homozygous mutant mice increased in weight faster than wildtype mice due to increased fat mass, and they had abnormal blood lipid chemistry, defective sperm formation, and defective rhodopsin transport in the retina. By 6 months of age, homozygous mutant mice developed multiple dilated cortical tubules, and older animals showed loss of cilia from kidney proximal tubules, which was associated with foci of apoptosis or proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17206865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Alstrom1959" class="mim-anchor"></a>
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Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H.
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<strong>Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome: a clinical endocrinological and genetic examination based on a large pedigree.</strong>
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Acta Psychiat. Neurol. Scand. Suppl. 129: 1-35, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13649370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13649370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13649370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Alter, C. A., Moshang, T., Jr.
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<strong>Growth hormone deficiency in two siblings with Alstrom syndrome.</strong>
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Am. J. Dis. Child. 147: 97-99, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8418611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8418611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8418611" 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/10.1001/archpedi.1993.02160250099030" target="_blank">Full Text</a>]
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Awazu, M., Tanaka, T., Sato, S., Anzo, M., Higuchi, M., Yamazaki, K., Matsuo, N.
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<strong>Hepatic dysfunction in two sibs with Alstrom syndrome: case report and review of the literature.</strong>
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Am. J. Med. Genet. 69: 13-16, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9066877" 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="Aynaci1995" class="mim-anchor"></a>
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Aynaci, F. M., Okten, A., Mocan, H., Gedik, Y., Sarpkaya, A. O.
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<strong>A case of Alstrom syndrome associated with diabetes insipidus. (Letter)</strong>
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Clin. Genet. 48: 164-166, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8556827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8556827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8556827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04080.x" target="_blank">Full Text</a>]
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Charles, S. J., Moore, A. T., Yates, J. R. W., Green, T., Clark, P.
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<strong>Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.</strong>
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J. Med. Genet. 27: 590-592, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2231654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2231654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2231654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.27.9.590" target="_blank">Full Text</a>]
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Cohen, J., Kisch, E. S.
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<strong>The Alstrom syndrome: a new variant?</strong>
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Israel J. Med. Sci. 30: 234-236, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8181924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8181924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8181924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Collin, G. B., Cyr, E., Bronson, R., Marshall, J. D., Gifford, E. J., Hicks, W., Murray, S. A., Zheng, Q. Y., Smith, R. S., Nishina, P. M., Naggert, J. K.
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<strong>Alms1-disrupted mice recapitulate human Alstrom syndrome.</strong>
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Hum. Molec. Genet. 14: 2323-2333, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16000322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16000322</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16000322[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16000322" 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/10.1093/hmg/ddi235" target="_blank">Full Text</a>]
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Collin, G. B., Marshall, J. D., Boerkoel, C. F., Levin, A. V., Weksberg, R., Greenberg, J., Michaud, J. L., Naggert, J. K., Nishina, P. M.
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<strong>Alstrom syndrome: further evidence for linkage to human chromosome 2p13.</strong>
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Hum. Genet. 105: 474-479, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10598815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10598815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10598815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390051133" target="_blank">Full Text</a>]
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Collin, G. B., Marshall, J. D., Cardon, L. R., Nishina, P. M.
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<strong>Homozygosity mapping of Alstrom syndrome to chromosome 2p.</strong>
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Hum. Molec. Genet. 6: 213-219, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063741" 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/10.1093/hmg/6.2.213" target="_blank">Full Text</a>]
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Collin, G. B., Marshall, J. D., Ikeda, A., So, W. V., Russell-Eggitt, I., Maffei, P., Beck, S., Boerkoel, C. F., Sicolo, N., Martin, M., Nishina, P. M., Naggert, J. K.
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<strong>Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.</strong>
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Nature Genet. 31: 74-78, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941369" 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/10.1097/00005792-197301000-00003" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9663233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9663233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9663233" 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/S0161-6420(98)97033-6" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Taskesen2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taskesen, M., Collin, G. B., Evsikov, A. V., Guzel, A., Ozgul, R. K., Marshall, J. D., Naggert, J. K.
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<strong>Novel Alu retrotransposon insertion leading to Alstrom syndrome.</strong>
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Hum. Genet. 131: 407-413, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21877133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21877133</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21877133[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21877133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-011-1083-9" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Tremblay1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Tremblay, F., LaRoche, R. G., Shea, S. E., Ludman, M. D.
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<strong>Longitudinal study of the early electroretinographic changes in Alstrom's syndrome.</strong>
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Am. J. Ophthal. 115: 657-665, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8488920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8488920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8488920" 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/s0002-9394(14)71466-7" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Warren1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warren, S. E., Schnitt, S. J., Bauman, A. J., Gianelly, R. E., Landsberg, L., Baim, D. S.
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<strong>Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities.</strong>
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Am. Heart J. 114: 1522-1524, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3687707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3687707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3687707" 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/10.1016/0002-8703(87)90561-8" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Weinstein1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weinstein, R. L., Kliman, B., Scully, R. E.
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<strong>Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.</strong>
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New Eng. J. Med. 281: 969-977, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5824738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5824738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5824738" 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/NEJM196910302811801" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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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Jane Kelly - updated : 04/20/2016
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/1/2012<br>Marla J. F. O'Neill - updated : 10/12/2010<br>George E. Tiller - updated : 1/9/2009<br>Marla J. F. O'Neill - updated : 4/17/2008<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Cassandra L. Kniffin - updated : 11/14/2007<br>Victor A. McKusick - updated : 4/8/2002<br>Victor A. McKusick - updated : 5/16/2001<br>Victor A. McKusick - updated : 12/6/1999<br>Ada Hamosh - updated : 8/6/1999<br>Ada Hamosh - updated : 3/14/1999<br>Victor A. McKusick - updated : 2/25/1999<br>Victor A. McKusick - updated : 1/21/1999<br>Victor A. McKusick - updated : 1/8/1998<br>Victor A. McKusick - updated : 5/16/1997<br>Victor A. McKusick - updated : 2/26/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 02/19/2025
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 11/05/2019<br>carol : 11/04/2019<br>carol : 11/01/2019<br>carol : 04/20/2016<br>carol : 8/18/2015<br>carol : 10/2/2012<br>terry : 10/1/2012<br>carol : 6/21/2011<br>wwang : 10/12/2010<br>terry : 10/12/2010<br>wwang : 1/9/2009<br>wwang : 4/17/2008<br>terry : 4/17/2008<br>wwang : 1/28/2008<br>ckniffin : 1/8/2008<br>wwang : 12/14/2007<br>ckniffin : 11/14/2007<br>carol : 8/19/2004<br>alopez : 6/6/2002<br>alopez : 4/10/2002<br>alopez : 4/10/2002<br>alopez : 4/10/2002<br>terry : 4/8/2002<br>mcapotos : 5/23/2001<br>terry : 5/16/2001<br>mgross : 12/9/1999<br>terry : 12/6/1999<br>carol : 8/6/1999<br>terry : 6/11/1999<br>carol : 3/22/1999<br>alopez : 3/14/1999<br>terry : 2/25/1999<br>carol : 2/1/1999<br>terry : 1/21/1999<br>carol : 10/15/1998<br>mark : 1/13/1998<br>terry : 1/8/1998<br>mark : 5/16/1997<br>terry : 5/12/1997<br>mark : 2/26/1997<br>terry : 2/24/1997<br>mimadm : 11/12/1995<br>mark : 10/2/1995<br>jason : 6/24/1994<br>carol : 3/11/1993<br>supermim : 3/16/1992<br>carol : 10/4/1991
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<h3>
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<span class="mim-font">
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<strong>#</strong> 203800
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<h3>
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ALSTROM SYNDROME; ALMS
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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ALSS
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<strong>SNOMEDCT:</strong> 63702009;
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<strong>ORPHA:</strong> 64;
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<strong>DO:</strong> 0050473;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2p13.1
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<span class="mim-font">
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Alstrom syndrome
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<td>
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<span class="mim-font">
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203800
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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ALMS1
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<span class="mim-font">
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606844
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Alstrom syndrome (ALMS) is caused by homozygous or compound heterozygous mutation in the ALMS1 gene (606844) on chromosome 2p13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure and pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by Collin et al., 2002; Marshall et al., 2007). </p>
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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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<p>Although Alstrom syndrome bears many similarities (retinitis pigmentosa, deafness, obesity, and diabetes mellitus) to the Bardet-Biedl syndrome (209900), there is no mental defect, polydactyly, or hypogonadism (Alstrom et al., 1959). The retinal lesion causes nystagmus and early loss of central vision in contrast to loss of peripheral vision first, as in other pigmentary retinopathies. </p><p>Weinstein et al. (1969) described 2 brothers with a disorder that they suggested 'resembles that described by Alstrom and his co-workers.' In spite of the presence of small testes and elevated urinary gonadotropin levels, secondary sexual characteristics were normal. Associated findings were blindness, deafness, obesity, and several metabolic abnormalities including hyperuricemia and elevated serum triglyceride and pre-beta-lipoprotein. Warren et al. (1987) gave follow-up on the brothers reported by Weinstein et al. (1969). Both developed manifestations of dilated cardiomyopathy at about the same age, 36 and 37 years. Myocardial fibrosis was demonstrated at autopsy and on myocardial biopsy; not enough in the way of coronary artery disease was found to explain the heart disease. </p><p>Charles et al. (1990) described Alstrom syndrome in the offspring of a couple related as first cousins once removed. </p><p>Connolly et al. (1991) described an 11-year-old girl from an isolated Mennonite community in British Columbia who, in addition to having pigmentary retinopathy, sensorineural deafness, obesity, type 2 diabetes mellitus, hyperlipidemia, and acanthosis nigricans, developed chronic active hepatitis at the age of 8 years. This disorder is unusually frequent among French Acadians, both those living in Yarmouth County, Nova Scotia, and in Louisiana, where the syndrome may have been confused with Bardet-Biedl syndrome. See later for a description of Acadian cases (Marshall et al., 1997). </p><p>Alter and Moshang (1993) described an 11.5-year-old boy and his 9-year and 10-month-old sister with Alstrom disease. Both had deficiency of growth hormone as indicated by deficient response to provocative tests as well as by low concentrations in frequent overnight samplings of serum growth hormone. However, the patients had advanced bone ages, normal early growth, and normal concentrations of IGF1. Glucose tolerance tests demonstrated marked elevations of insulin and glucose intolerance consistent with insulin resistance. In addition to early pigmentary degeneration of the retina and neurosensory hearing loss and obesity, the boy had acanthosis nigricans. Both were of normal intelligence. </p><p>Cohen and Kisch (1994) described 2 sisters and a brother with a possible variant form of Alstrom syndrome. The 3 sibs examined by Cohen and Kisch (1994) and a fourth sib who was not available for study presented the features incorporated in the original description of the syndrome (retinal degeneration, diabetes mellitus, and neural deafness), but all had onset much later than in previously reported patients and all were fertile, producing normal offspring, in contrast to the statement of Millay et al. (1986) who, in reviewing 15 cases of Alstrom syndrome, stated that 'no patient with Alstrom's disease, male or female, has ever been known to reproduce.' In closely studied cases, the diagnosis of diabetes was preceded by or coincided with neuropathic complaints, possibly linking the nerve deafness with a common vulnerability of the nervous system within this syndrome. Insulin resistance was suggested by elevated fasting insulin levels. The affected male became hypergonadal at a later age, consistent with late onset of components of the syndrome. </p><p>Aynaci et al. (1995) described diabetes insipidus in association with Alstrom syndrome in a 16-year-old male patient. One sib who was probably affected died at 3 years of age. Features of Alstrom syndrome included blindness from an early age, with retinal atrophy, profound obesity, and diabetes mellitus. </p><p>Awazu et al. (1997) described hepatic dysfunction in a brother and sister with Alstrom syndrome. The brother developed elevation of liver enzymes at 29 years of age. Liver biopsy showed fatty liver, lymphocytic infiltration, and piecemeal necrosis. The sister had elevated gamma-glutamyltransferase (137181) levels from the age of 10 years. She developed ascites, esophageal varices, and splenomegaly in her twenties. She died at 26 years of age and autopsy confirmed the presence of cirrhosis. Awazu et al. (1997) found reports of 2 Japanese patients with Alstrom syndrome who had liver cirrhosis. Liver involvement in Alstrom syndrome appears to have been first described by Connolly et al. (1991). </p><p>Marshall et al. (1997) described a large Acadian kindred with 8 patients with Alstrom syndrome, ranging in age from 4 to 26 years at the time of clinical assessment. The affected individuals came from 5 nuclear families within this kindred and were descendants of a common ancestral pair. The single ancestral pair was shared by all 10 parents of the 5 sibships. The phenotype included early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with normal cholesterol levels were observed in most affected individuals tested. Noninsulin-dependent diabetes mellitus (NIDDM) and growth retardation appeared to be age-related manifestations that occurred after adolescence. Younger affected children were not overtly hyperglycemic and were normal or above average height for age. Of the 8 children, 4 had scoliosis, 2 had had infantile cardiomyopathy, 2 were hypothyroid, 1 had hepatic dysfunction and was hypertensive, and 4 developed asthma. Seven of the 8 exhibited developmental delay. All subjects tested showed advanced bone age. Marshall et al. (1997) reviewed 49 cases of Alstrom syndrome reported since the first description by Alstrom et al. (1959). The large pedigree from which the 8 individuals were derived contained at least 10 other cases of Alstrom syndrome. Members of the kindred had previously been reported by Tremblay et al. (1993). The patients described by Alter and Moshang (1993) were also from this kindred. Marshall et al. (1997) provided a useful 'time line' (their Figure 3) for the clinical manifestations seen consistently and findings present in some but not all Alstrom syndrome patients as age progresses. </p><p>Michaud et al. (1996) described the natural history of Alstrom syndrome in 8 patients followed 2 to 22 years. Five patients in 4 families were seen between the ages of 3 weeks and 4 months with dilated cardiomyopathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented between the ages of 5 and 15 months. Electroretinogram (ERG) initially showed a severe cone impairment with mild (2 of 8) or no (6 of 8) rod involvement. Repeat ERGs obtained between ages 9 and 22 years in 4 patients revealed extinguished rod and cone responses. Obesity developed in childhood in 7 patients, in 3 before age 2 years. Hearing impairment (5 of 8) and diabetes/glucose intolerance (4 of 8) were diagnosed by the end of the first or during the second decade. </p><p>Russell-Eggitt et al. (1998) stated that 37 cases of Alstrom syndrome had been reported in the world literature since 1959. They reviewed the clinical features of 22 cases, the largest series to that time, and compared them with those of Bardet-Biedl syndrome (209900). The 22 patients had been admitted to the Great Ormond Street Hospital for Children in London during the previous 10 years. Remarkably, 18 of the 22 cases had infantile cardiomyopathy. Russell-Eggitt et al. (1998) pointed out that at their institution there was an ascertainment bias toward younger patients and especially those with pathology such as cardiomyopathy. Alstrom syndrome in childhood is difficult to recognize without the development of infantile cardiomyopathy. Indeed, the disorder is often not recognized until diabetes mellitus develops in the second or third decade. There is a severe infantile retinal dystrophy. The ERG is absent or attenuated with better preserved rod than cone function. The retinal dystrophy is progressive, with the patient's visual acuity of 6/60 or less by 10 years of age and no light perception by 20 years of age. The diagnosis of Alstrom syndrome should be considered in infantile cone and rod retinal dystrophy, particularly if the weight is above the 90th percentile (as it was in 16 of 18 cases) or if there is infantile cardiomyopathy. </p><p>Quiros-Tejeira et al. (2001) reported a patient with Alstrom syndrome with evidence of extensive hepatic disease diagnosed at 5 years of age, who subsequently developed acute liver failure and died at 8 years of age. They raised the possibility of a mitochondrial defect in this disorder. </p><p>Ozgul et al. (2007) reported 3 Turkish sisters with Alstrom syndrome who had been followed clinically for 20 years. All had early-onset retinal degeneration with no light perception, cataracts, truncal obesity, hyperlipidemia, alopecia, and hyperostosis frontalis interna. Other features included mildly increased serum cortisol, renal failure, oligomenorrhea, recurrent pulmonary infections, insulin resistance, and hepatomegaly. All had urologic anomalies, including narrowing of the ureteropelvic junctions and deformities of the calyceal system. Renal biopsy in 1 patient showed mesangial proliferative glomerulopathy with hyaline arteriosclerosis and mild interstitial fibrosis. Two developed sensorineural hearing loss. Age at onset of diabetes, blindness, and renal failure differed among the girls, suggesting the influence of other genes or environmental factors. Unusual features included pes planus, gingivitis, light yellow-brown discolored enamel on the anterior teeth, multinodular goiter, and the structural renal anomalies. </p><p>Marshall et al. (2007) stated that approximately 450 cases of Alstrom syndrome had been diagnosed since the condition was first described in 1959. They reviewed the clinical features, diagnostic criteria, and management of the disorder. </p><p>Khan et al. (2015) described the clinical ocular features of 19 consecutive children in a retrospective case series (2010-2014) before they were diagnosed with Alstrom syndrome. All of the children, referred at age 2 to 18 years (median, 3 years), were noted to have had nystagmus in the first few months of life, significant photophobia within the first year of life, and symmetric hyperopia at presentation (3.50-8.00 diopters; median 5.5). Twelve were seen at 2 to 3 years of age, at which time most had a normal or near-normal fundus appearance. ERGs, always recordable at this age (and up to age 7 years), showed cone-rod dysfunction, often with a nearly electronegative waveform. Children older than age 7 years had retinal pigment epithelium mottling typically without intraretinal pigment migration, bull's eye maculopathy, waxy disc pallor, and nonrecordable ERGs. Bilateral posterior subcapsular cataract was noted in 5 older children, aged 12 to 16 years. At initial presentation, 11 of the 19 children had one or more extraocular features typical of Alstrom syndrome (excluding obesity), but 8 of the 19 had only ophthalmic findings (excluding obesity). </p>
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<strong>Inheritance</strong>
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<p>From the pedigree data of Alstrom et al. (1959), autosomal recessive inheritance seemed likely. Goldstein and Fialkow (1973) concluded that autosomal recessive inheritance is indisputable. They described 3 affected sisters and pointed out that a slowly progressive chronic nephropathy and acanthosis nigricans are features. Diabetes mellitus in this condition is the result of resistance to the action of insulin. Target organ unresponsiveness to the action of other polypeptide hormones, including vasopressin and gonadotropins, is suspected. </p>
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<strong>Biochemical Features</strong>
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<p>Rudiger et al. (1985) demonstrated that in Alstrom syndrome cultured fibroblasts have normal insulin-receptor binding and normal insulin stimulation of both glucose uptake, an early effect, and RNA synthesis, a late effect. </p><p>Lee et al. (2009) described an 18-month-old Taiwanese boy with Alstrom syndrome in whom they identified a 19-bp deletion in exon 16 of the ALMS1 gene that had previously been found in another Taiwanese family with Alstrom syndrome (Marshall et al., 2007). The boy, who was obese but had normal insulin and glucose levels at 9 months of age, was begun on calorie restriction; over the next 9 months, his body mass index decreased from 25.0 to 20.7 and at 18 months of age his insulin and glucose levels remained normal. Lee et al. (2009) suggested that hyperinsulinemia is a secondary event in Alstrom syndrome that can be prevented with early treatment. </p>
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<strong>Mapping</strong>
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<p>As a result of a linkage study in a large French Acadian kindred with Alstrom syndrome and because of evidence of founder effect, Collin et al. (1997) were able to use homozygosity mapping to identify the disease locus. In a genomewide screen, haplotype sharing for a region on chromosome 2 was observed in all affected individuals. Two-point linkage analysis resulted in a maximum lod score of 3.84 at theta = 0.00 for marker D2S292. By testing additional markers, the disease gene was localized to a 14.9 cM region on 2p14-p13 (see Figure 3 of Collin et al., 1997). In a North African family in Algeria, Macari et al. (1998) refined the localization of the Alstrom syndrome locus to 2p13-p12, reducing the genetic interval to 6.1 cM. Collin et al. (1999) confirmed the mapping to 2p13 by performing a linkage study in 12 additional families. A maximum 2-point lod score of 7.13 (theta = 0.00) for marker D2S2110 and a maximum cumulative multipoint lod score of 9.16 for marker D2S2110 were observed. Meiotic recombination events localized the critical region containing the ALMS1 locus to a 6.1-cM interval flanked by markers D2S327 and D2S286. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 6 unrelated families with Alstrom syndrome, Collin et al. (2002) identified homozygous or compound heterozygous mutations in the ALMS1 gene (see, e.g., 606844.0001-606844.0003). The authors suggested that the ALMS1 gene probably interacts with genetic modifiers, as subsets of affected individuals present with additional features such as dilated cardiomyopathy (Michaud et al., 1996), hepatic dysfunction (Connolly et al., 1991), hypothyroidism (Charles et al., 1990), male hypogonadism, short stature, and mild to moderate developmental delay, and with secondary complications normally associated with type 2 diabetes, such as hyperlipidemia and atherosclerosis. </p><p>Hearn et al. (2002) studied an individual with Alstrom syndrome carrying a familial balanced reciprocal chromosome translocation involving the previously implicated Alstrom critical region: 46,XY,t(2;11)(p13;q21)mat. They postulated that this individual was a compound heterozygote, carrying one copy of the gene disrupted by the translocation and the other copy disrupted by an intragenic mutation. They mapped the 2p13 breakpoint on the maternal allele to a genomic fragment of 1.7 kb which contained exon 4 and the start of exon 5 of the ALMS1 gene; in the paternal copy of the gene, they detected a frameshift mutation. In 7 affected families, Hearn et al. (2002) detected 6 different truncating mutations in the ALMS1 gene (see, e.g., 606844.0004-606844.0006). Hearn et al. (2002) stated that ALMS1 was the first autosomal recessive human disease gene to be identified as a result of a balanced reciprocal translocation. </p><p>Marshall et al. (2007) identified a total of 79 mutations in the ALMS1 gene, including 55 novel mutations, among 250 individuals with a clinical diagnosis of Alstrom syndrome from 206 unrelated kindreds. There were 32 mutations in exon 16, 19 mutations in exon 10, and 17 mutations in exon 8, suggesting that these regions represent mutation hotspots. The most common allele was a 1-bp deletion (10775delC; 606844.0003), identified in 12% of mutated alleles. Common haplotypes were observed in kindreds of English descent who carried this allele, suggesting a founder effect. A genotype-phenotype correlation analysis in a subset of 58 patients found a trend for disease-causing variants in exon 16 and a more severe phenotype. These patients tended to have onset of retinal degeneration before age 1 year (p = 0.02), urologic dysfunction (p = 0.02), dilated cardiomyopathy (p = 0.03), and diabetes (p = 0.03). A significant association was found between alterations in exon 8 and absent, mild, or delayed renal disease (p = 0.0007). </p><p>In 3 Turkish sisters with Alstrom syndrome, Ozgul et al. (2007) identified a homozygous mutation in the ALMS1 gene (606844.0007). </p><p>In 2 cousins with Alstrom syndrome from a consanguineous Turkish pedigree, Taskesen et al. (2012) identified homozygosity for insertion of a novel Alu retrotransposon into exon 16 of the ALMS1 gene (606844.0008). The severely affected male proband was totally blind and had bilateral sensorineural hearing loss, truncal obesity, short stature, mild hypertension, hypogonadism, insulin resistance, hyperinsulinemia, type 2 diabetes mellitus, hyperlipidemia, subclinical hypothyroidism, left ventricular hypertrophy, hepatosplenomegaly, and renal failure; he died at 14 years of age of multiple organ failure after an episode of acute gastroenteritis. He had 4 older brothers who had died of unknown causes within the first year of life. His 6-year-old female cousin developed vision loss and obesity in early childhood and had hypertriglyceridemia but otherwise normal hepatic, pulmonary, cardiac, and renal function and normal hearing. She had an older brother who had died at 6 months of age from unknown causes. The ALMS1(Alu) allele was detected in 2 (6.9%) of 29 unaffected individuals from the same Turkish village as the affected pedigree, but was not found in 50 unrelated Turkish controls. No clinical features consistent with Alstrom syndrome had been reported in previous generations of the pedigree, and no other affected individuals were identified in the village. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Collin et al. (1999) excluded the transforming growth factor-alpha gene (190170) as a candidate for Alstrom syndrome. </p>
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<strong>Animal Model</strong>
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<p>Collin et al. (2005) generated a mouse model of Alstrom syndrome using an Alms1 gene-trapped ES cell line. Alms1 -/- mice developed features similar to human patients with ALMS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction, and late-onset hearing loss. Insulin resistance and increased body weight were apparent at 8 to 12 weeks of age, with hyperglycemia manifesting at 16 weeks of age. Alms1 -/- mice displayed abnormal auditory brainstem responses after 8 months of age. Diminished cone ERG b-wave response was observed early, followed by the degeneration of photoreceptor cells. Electron microscopy revealed accumulation of intracellular vesicles in the inner segments of photoreceptors, whereas immunohistochemical analysis showed mislocalization of rhodopsin (RHO; 180380) to the outer nuclear layer. Collin et al. (2005) suggested that ALMS1 may play a role in intracellular trafficking. </p><p>Li et al. (2007) studied a mouse model of Alstrom syndrome in which the Alms1 protein was prematurely terminated at 2,130 amino acids. Primary fibroblasts and kidney cells from homozygous mutant mice expressed both mutant mRNA and protein, and they showed normal primary cilia and normal localization of the mutant protein. Homozygous mutant mice increased in weight faster than wildtype mice due to increased fat mass, and they had abnormal blood lipid chemistry, defective sperm formation, and defective rhodopsin transport in the retina. By 6 months of age, homozygous mutant mice developed multiple dilated cortical tubules, and older animals showed loss of cilia from kidney proximal tubules, which was associated with foci of apoptosis or proliferation. </p>
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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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Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H.
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<strong>Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome: a clinical endocrinological and genetic examination based on a large pedigree.</strong>
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Acta Psychiat. Neurol. Scand. Suppl. 129: 1-35, 1959.
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[PubMed: 13649370]
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<p class="mim-text-font">
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Alter, C. A., Moshang, T., Jr.
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<strong>Growth hormone deficiency in two siblings with Alstrom syndrome.</strong>
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Am. J. Dis. Child. 147: 97-99, 1993.
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[PubMed: 8418611]
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Awazu, M., Tanaka, T., Sato, S., Anzo, M., Higuchi, M., Yamazaki, K., Matsuo, N.
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<strong>Hepatic dysfunction in two sibs with Alstrom syndrome: case report and review of the literature.</strong>
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Aynaci, F. M., Okten, A., Mocan, H., Gedik, Y., Sarpkaya, A. O.
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<strong>A case of Alstrom syndrome associated with diabetes insipidus. (Letter)</strong>
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Clin. Genet. 48: 164-166, 1995.
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Charles, S. J., Moore, A. T., Yates, J. R. W., Green, T., Clark, P.
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<strong>Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.</strong>
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J. Med. Genet. 27: 590-592, 1990.
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[PubMed: 2231654]
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[Full Text: https://doi.org/10.1136/jmg.27.9.590]
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Cohen, J., Kisch, E. S.
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<strong>The Alstrom syndrome: a new variant?</strong>
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Israel J. Med. Sci. 30: 234-236, 1994.
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[PubMed: 8181924]
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<p class="mim-text-font">
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Collin, G. B., Cyr, E., Bronson, R., Marshall, J. D., Gifford, E. J., Hicks, W., Murray, S. A., Zheng, Q. Y., Smith, R. S., Nishina, P. M., Naggert, J. K.
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<strong>Alms1-disrupted mice recapitulate human Alstrom syndrome.</strong>
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Hum. Molec. Genet. 14: 2323-2333, 2005.
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[PubMed: 16000322]
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[Full Text: https://doi.org/10.1093/hmg/ddi235]
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Collin, G. B., Marshall, J. D., Boerkoel, C. F., Levin, A. V., Weksberg, R., Greenberg, J., Michaud, J. L., Naggert, J. K., Nishina, P. M.
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<strong>Alstrom syndrome: further evidence for linkage to human chromosome 2p13.</strong>
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Hum. Genet. 105: 474-479, 1999.
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[PubMed: 10598815]
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[Full Text: https://doi.org/10.1007/s004390051133]
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Collin, G. B., Marshall, J. D., Cardon, L. R., Nishina, P. M.
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<strong>Homozygosity mapping of Alstrom syndrome to chromosome 2p.</strong>
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Hum. Molec. Genet. 6: 213-219, 1997.
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[PubMed: 9063741]
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[Full Text: https://doi.org/10.1093/hmg/6.2.213]
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<p class="mim-text-font">
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Collin, G. B., Marshall, J. D., Ikeda, A., So, W. V., Russell-Eggitt, I., Maffei, P., Beck, S., Boerkoel, C. F., Sicolo, N., Martin, M., Nishina, P. M., Naggert, J. K.
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<strong>Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.</strong>
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Nature Genet. 31: 74-78, 2002.
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[PubMed: 11941369]
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<p class="mim-text-font">
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Collin, G. B., Marshall, J. D., Naggert, J. K., Nishina, P. M.
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<strong>TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (Letter)</strong>
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Clin. Genet. 55: 61-62, 1999.
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[PubMed: 10066034]
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[Full Text: https://doi.org/10.1034/j.1399-0004.1999.550111.x]
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<li>
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<p class="mim-text-font">
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Connolly, M. B., Jan, J. E., Couch, R. M., Wong, L. T. K., Dimmick, J. E., Rigg, J. M.
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<strong>Hepatic dysfunction in Alstrom disease.</strong>
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Am. J. Med. Genet. 40: 421-424, 1991.
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[PubMed: 1746604]
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[Full Text: https://doi.org/10.1002/ajmg.1320400408]
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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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Goldstein, J. L., Fialkow, P. J.
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<strong>The Alstrom syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder.</strong>
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Medicine 52: 53-71, 1973.
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[PubMed: 4689172]
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[Full Text: https://doi.org/10.1097/00005792-197301000-00003]
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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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Ozgul, R. K., Satman, I., Collin, G. B., Hinman, E. G., Marshall, J. D., Kocaman, O., Tutuncu, Y., Yilmaz, T., Naggert, J. K.
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<strong>Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.</strong>
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