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<title>
Entry
- #620253 - CATARACT 50 WITH OR WITHOUT GLAUCOMA; CTRCT50
- OMIM
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<span class="h4">#620253</span>
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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/620253"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS116200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CATARACT 50 WITH WITHOUT GLAUCOMA) OR (TRPM3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
620253
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<h3>
<span class="mim-font">
CATARACT 50 WITH OR WITHOUT GLAUCOMA; CTRCT50
</span>
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<br />
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
<a href="/geneMap/9/236?start=-3&limit=10&highlight=236">
9q21.12-q21.13
</a>
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<span class="mim-font">
?Cataract 50 with or without glaucoma
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="mim-font">
<a href="/entry/620253"> 620253 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
TRPM3
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<span class="mim-font">
<a href="/entry/608961"> 608961 </a>
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<li><a href="/graph/linear/620253" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
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<div>
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<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
<em> Eyes </em>
</span>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Glaucoma, high-tension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5883846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5883846</a>]</span><br /> -
Persistent pupillary membrane (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95500008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95500008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009917</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009917</a>]</span><br /> -
Retinal detachment (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Intrafamilial variability<br /> -
Over half of patients with cataract also have glaucoma<br /> -
Age of diagnosis of cataract ranges from birth to fourth decade<br /> -
Age of diagnosis of glaucoma ranges from birth to fifth decade<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the transient receptor potential cation channel, subfamily M, member-3 gene (TRPM3, <a href="/entry/608961#0002">608961.0002</a>)<br />
</span>
</div>
</div>
</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<h5>
Cataract
- <a href="/phenotypicSeries/PS116200">PS116200</a>
- 51 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/7?start=-3&limit=10&highlight=7"> 1pter-p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115665"> Cataract 8, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115665"> 115665 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115665"> CTRCT8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115665"> 115665 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/70?start=-3&limit=10&highlight=70"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619593"> ?Cataract 49 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619593"> 619593 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606162"> PANK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606162"> 606162 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/196?start=-3&limit=10&highlight=196"> 1p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116600"> Cataract 6, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116600"> 116600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176946"> EPHA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176946"> 176946 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/595?start=-3&limit=10&highlight=595"> 1p33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612968"> Cataract 34, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612968"> 612968 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601094"> FOXE3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601094"> 601094 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1040?start=-3&limit=10&highlight=1040"> 1q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116200"> Cataract 1, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116200"> 116200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600897"> GJA8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600897"> 600897 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/2?start=-3&limit=10&highlight=2"> 2pter-p24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115800"> Cataract 29, coralliform </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115800"> 115800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115800"> CTRCT29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115800"> 115800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/394?start=-3&limit=10&highlight=394"> 2p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607304"> Cataract 27, nuclear progressive </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607304"> 607304 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607304"> CTRCT27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607304"> 607304 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/956?start=-3&limit=10&highlight=956"> 2q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115700"> Cataract 4, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115700"> 115700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123690"> CRYGD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123690"> 123690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/957?start=-3&limit=10&highlight=957"> 2q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604307"> Cataract 2, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604307"> 604307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123680"> CRYGC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123680"> 123680 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/958?start=-3&limit=10&highlight=958"> 2q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615188"> Cataract 39, multiple types, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615188"> 615188 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123670"> CRYGB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123670"> 123670 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1024?start=-3&limit=10&highlight=1024"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115900"> ?Cataract 42 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115900"> 115900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600836"> CRYBA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600836"> 600836 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/244?start=-3&limit=10&highlight=244"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610019"> Cataract 18, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610019"> 610019 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607182"> FYCO1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607182"> 607182 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/692?start=-3&limit=10&highlight=692"> 3q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611597"> Cataract 12, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611597"> 611597 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603212"> BFSP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603212"> 603212 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/934?start=-3&limit=10&highlight=934"> 3q27.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116100"> Cataract 20, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116100"> 116100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123730"> CRYGS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123730"> 123730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/69?start=-3&limit=10&highlight=69"> 4p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116400"> ?Cataract 41 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116400"> 116400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606201"> WFS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606201"> 606201 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/52?start=-3&limit=10&highlight=52"> 6p24.3-p24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116700"> Cataract 13 with adult i phenotype </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116700"> 116700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600429"> GCNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600429"> 600429 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/408?start=-3&limit=10&highlight=408"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212500"> Cataract 46, juvenile-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212500"> 212500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616312"> LEMD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616312"> 616312 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/552?start=-3&limit=10&highlight=552"> 6p12-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609026"> {Cataract 28, age-related cortical, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609026"> 609026 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609026"> CTRCT28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609026"> 609026 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/744?start=-3&limit=10&highlight=744"> 7q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614691"> Cataract 38, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614691"> 614691 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610345"> AGK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610345"> 610345 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/214?start=-3&limit=10&highlight=214"> 9q13-q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605749"> Cataract 26, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605749"> 605749 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605749"> CTRCT26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605749"> 605749 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/236?start=-3&limit=10&highlight=236"> 9q21.12-q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620253"> ?Cataract 50 with or without glaucoma </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620253"> 620253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608961"> TRPM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608961"> 608961 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/340?start=-3&limit=10&highlight=340"> 9q22.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613887"> Cataract 36 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613887"> 613887 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611258"> TDRD7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611258"> 611258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/82?start=-3&limit=10&highlight=82"> 10p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116300"> Cataract 30, pulverulent </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116300"> 116300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193060"> VIM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193060"> 193060 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/384?start=-3&limit=10&highlight=384"> 10q23.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612018"> Cataract 47, juvenile, with microcornea </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612018"> 612018 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611910"> SLC16A12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611910"> 611910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/471?start=-3&limit=10&highlight=471"> 10q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618415"> Cataract 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618415"> 618415 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611282"> DNMBP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611282"> 611282 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/512?start=-3&limit=10&highlight=512"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610623"> Cataract 11, syndromic, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610623"> 610623 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602669"> PITX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602669"> 602669 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/512?start=-3&limit=10&highlight=512"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610623"> Cataract 11, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610623"> 610623 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602669"> PITX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602669"> 602669 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613763"> Cataract 16, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613763"> 613763 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/515?start=-3&limit=10&highlight=515"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615274"> Cataract 15, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615274"> 615274 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154050"> MIP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154050"> 154050 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/839?start=-3&limit=10&highlight=839"> 12q24.2-q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614422"> Cataract 37, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614422"> 614422 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614422"> CTRCT37 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614422"> 614422 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/14?start=-3&limit=10&highlight=14"> 13q12.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601885"> Cataract 14, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601885"> 601885 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/121015"> GJA3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/121015"> 121015 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/222?start=-3&limit=10&highlight=222"> 14q22-q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115650"> Cataract 32, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115650"> 115650 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115650"> CTRCT32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115650"> 115650 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/166?start=-3&limit=10&highlight=166"> 15q21-q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605728"> Cataract 25 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605728"> 605728 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605728"> CTRCT25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605728"> 605728 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/535?start=-3&limit=10&highlight=535"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116800"> Cataract 5, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116800"> 116800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602438"> HSF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602438"> 602438 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/667?start=-3&limit=10&highlight=667"> 16q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610202"> Cataract 21, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610202"> 610202 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/177075"> MAF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/177075"> 177075 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/3?start=-3&limit=10&highlight=3"> 17p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601202"> Cataract 24, anterior polar </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601202"> 601202 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601202"> CTRCT24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601202"> 601202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/363?start=-3&limit=10&highlight=363"> 17q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600881"> Cataract 10, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600881"> 600881 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123610"> CRYBA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123610"> 123610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616279"> ?Cataract 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616279"> 616279 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/860?start=-3&limit=10&highlight=860"> 17q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115660"> Cataract 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115660"> 115660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115660"> CTRCT7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115660"> 115660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/533?start=-3&limit=10&highlight=533"> 19q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609376"> Cataract 35, congenital nuclear </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609376"> 609376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609376"> CTRCT35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609376"> 609376 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/634?start=-3&limit=10&highlight=634"> 19q13.13-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616851"> ?Cataract 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616851"> 616851 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616655"> SIPA1L3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616655"> 616655 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1027?start=-3&limit=10&highlight=1027"> 19q13.41 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615277"> Cataract 19, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615277"> 615277 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154045"> LIM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154045"> 154045 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/113?start=-3&limit=10&highlight=113"> 20p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611391"> Cataract 33, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611391"> 611391 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603307"> BFSP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603307"> 603307 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/220?start=-3&limit=10&highlight=220"> 20q11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605387"> Cataract 31, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605387"> 605387 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610897"> CHMP4B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610897"> 610897 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/144?start=-3&limit=10&highlight=144"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604219"> Cataract 9, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604219"> 604219 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123580"> CRYAA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123580"> 123580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/178?start=-3&limit=10&highlight=178"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616509"> Cataract 44 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616509"> 616509 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600909"> LSS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600909"> 600909 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/120?start=-3&limit=10&highlight=120"> 22q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609741"> Cataract 22 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609741"> 609741 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123630"> CRYBB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123630"> 123630 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/121?start=-3&limit=10&highlight=121"> 22q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601547"> Cataract 3, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601547"> 601547 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123620"> CRYBB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123620"> 123620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/134?start=-3&limit=10&highlight=134"> 22q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610425"> Cataract 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610425"> 610425 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123631"> CRYBA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123631"> 123631 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/135?start=-3&limit=10&highlight=135"> 22q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611544"> Cataract 17, multiple types </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611544"> 611544 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600929"> CRYBB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600929"> 600929 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/96?start=-3&limit=10&highlight=96"> Xp22.2-p22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302200"> Cataract 40, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302200"> 302200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300457"> NHS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300457"> 300457 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that cataract-50 with or without glaucoma (CTRCT50) is caused by heterozygous mutation in the TRPM3 gene (<a href="/entry/608961">608961</a>) on chromosome 9q21. One such family has been reported.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>CTRCT50 is characterized by pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Variable anterior segment defects have also been reported (<a href="#1" class="mim-tip-reference" title="Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A. &lt;strong&gt;Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.&lt;/strong&gt; PLoS One 9: e104000, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25090642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25090642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25090642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pone.0104000&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25090642">Bennett et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25090642" 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="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A. &lt;strong&gt;Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.&lt;/strong&gt; PLoS One 9: e104000, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25090642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25090642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25090642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pone.0104000&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25090642">Bennett et al. (2014)</a> reported a large 5-generation Caucasian American family segregating autosomal dominant cataract with or without glaucoma and with mutation in the TRPM3 gene. The family was ascertained through medical records, and retrospective review of those records revealed that of 25 individuals over 4 generations who were considered affected, 15 (60%) had cataract and glaucoma, 9 had cataract without glaucoma, and a 24-year-old woman had only persistent pupillary membrane. In addition, a 7-year-old boy, whose twin brother had unilateral cataract, was undiagnosed, and an 8-year-old girl who did not undergo genetic testing had infantile glaucoma without cataract, as well as anterior segment dysgenesis, megalocornea, corectopia, and persistent pupillary membrane. Three patients had persistent pupillary membrane, and 3 patients had retinal detachment. All family members with cataract had visually significant lens opacities and underwent lens extraction. Cataract was usually bilateral, and age at diagnosis ranged from birth to 35 years, with age at first surgery ranging from 4 to 40 years. Slit-lamp images of cataracts were not available; however, opacities had been described as punctate cortical in 1 patient and posterior subcapsular in another. A diagnosis of glaucoma was made based on significantly elevated intraocular pressure (greater than 30 mmHg) and in some cases was accompanied by visual field and/or optic nerve abnormalities; age at diagnosis ranged from birth into the fifth decade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25090642" 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>
<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CTRCT50 in a large 5-generation family reported by <a href="#1" class="mim-tip-reference" title="Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A. &lt;strong&gt;Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.&lt;/strong&gt; PLoS One 9: e104000, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25090642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25090642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25090642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pone.0104000&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25090642">Bennett et al. (2014)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25090642" 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="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<span class="mim-text-font">
<p>In affected members of a large 5-generation family with autosomal dominant cataract with or without glaucoma, who were negative for mutation in genes encoding ocular transcription factors and other candidate genes, <a href="#1" class="mim-tip-reference" title="Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A. &lt;strong&gt;Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.&lt;/strong&gt; PLoS One 9: e104000, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25090642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25090642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25090642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pone.0104000&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25090642">Bennett et al. (2014)</a> performed genomewide linkage analysis and detected significant evidence of linkage on chromosome 9q. Haplotype analysis defined a 46-Mb common disease interval spanning the pericentric region that cosegregated with disease in all affected relatives. After analysis of recombination events, the authors narrowed the disease interval to a 39.7-Mb interval between markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2073478;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2073478</a> and D9S284, noting that it excluded the adjacent locus for autosomal recessive pulverulent cataract (CTRCT26; <a href="/entry/605749">605749</a>) and the cataract (CTRCT36; <a href="/entry/613887">613887</a>)-associated gene TDRD7 (<a href="/entry/611258">611258</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25090642" 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="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In affected members of a large 5-generation family autosomal dominant cataract with or without glaucoma mapped to chromosome 9q, <a href="#1" class="mim-tip-reference" title="Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A. &lt;strong&gt;Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.&lt;/strong&gt; PLoS One 9: e104000, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25090642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25090642&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25090642[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pone.0104000&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25090642">Bennett et al. (2014)</a> performed exome sequencing and identified a heterozygous missense mutation in the TRPM3 gene (I65M; <a href="/entry/608961#0002">608961.0002</a>). The variant segregated fully with disease in the family and was not found in 192 unrelated controls or in the 1000 Genomes Project or EVS databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25090642" 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="animalModel" class="mim-anchor"></a>
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Animal Model</strong>
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<p>Using CRISPR/Cas9 gene editing technology, <a href="#2" class="mim-tip-reference" title="Zhou, Y., Bennett, T. M., Shiels, A. &lt;strong&gt;Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses.&lt;/strong&gt; FASEB J. 35: e21288, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33484482/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33484482&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33484482[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1096/fj.202002037R&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33484482">Zhou et al. (2021)</a> generated knock-in mice with the TRPM3 cataract-associated I65M mutation (<a href="/entry/608961#0002">608961.0002</a>) and compared them to Trpm3-null mice, noting that the null mice exhibited only mild impairment of lens growth, whereas Trpm3 M/M homozygotes developed severe progressive anterior pyramid-like cataract with microphthalmia. In addition, heterozygous Trpm3 I/M and hemizygous Trpm3 M/- mutants developed anterior pyramidal cataract with delayed onset, consistent with a semidominant lens phenotype. Histochemical staining revealed abnormal accumulation of calcium phosphate-like deposits and collagen fibrils in Trpm3-mutant lenses, and immunoblotting detected increased alpha-II-spectrin (SPTAN1; <a href="/entry/182810">182810</a>) cleavage products consistent with calpain (see <a href="/entry/114220">114220</a>) hyperactivation. Immunofluorescence confocal microscopy of Trpm3-M/M mutant lenses revealed fiber cell membrane degeneration that was accompanied by accumulation of alpha-smooth muscle actin (see <a href="/entry/102620">102620</a>)-positive myofibroblast-like cells and macrosialin (CD68; <a href="/entry/153634">153634</a>)-positive macrophage-like cells. The authors concluded that Trpm3 deficiency impairs lens growth but not lens transparency, and that Trpm3 dysfunction results in progressive lens degeneration and calcification, coupled with profibrotic and immune cell responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33484482" 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>
<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
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<strong>REFERENCES</strong>
</span>
</h4>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Bennett2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A.
<strong>Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.</strong>
PLoS One 9: e104000, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25090642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25090642</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25090642[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=25090642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1371/journal.pone.0104000" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Zhou2021" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zhou, Y., Bennett, T. M., Shiels, A.
<strong>Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses.</strong>
FASEB J. 35: e21288, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33484482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33484482</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33484482[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=33484482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1096/fj.202002037R" target="_blank">Full Text</a>]
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O&#x27;Neill : 02/17/2023
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
carol : 02/20/2023
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carol : 02/17/2023
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<h3>
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<strong>#</strong> 620253
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<h3>
<span class="mim-font">
CATARACT 50 WITH OR WITHOUT GLAUCOMA; CTRCT50
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
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</thead>
<tbody>
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<td>
<span class="mim-font">
9q21.12-q21.13
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<td>
<span class="mim-font">
?Cataract 50 with or without glaucoma
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620253
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<td>
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Autosomal dominant
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<td>
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3
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</td>
<td>
<span class="mim-font">
TRPM3
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<td>
<span class="mim-font">
608961
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<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that cataract-50 with or without glaucoma (CTRCT50) is caused by heterozygous mutation in the TRPM3 gene (608961) on chromosome 9q21. One such family has been reported.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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<p>CTRCT50 is characterized by pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Variable anterior segment defects have also been reported (Bennett et al., 2014). </p>
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<p>Bennett et al. (2014) reported a large 5-generation Caucasian American family segregating autosomal dominant cataract with or without glaucoma and with mutation in the TRPM3 gene. The family was ascertained through medical records, and retrospective review of those records revealed that of 25 individuals over 4 generations who were considered affected, 15 (60%) had cataract and glaucoma, 9 had cataract without glaucoma, and a 24-year-old woman had only persistent pupillary membrane. In addition, a 7-year-old boy, whose twin brother had unilateral cataract, was undiagnosed, and an 8-year-old girl who did not undergo genetic testing had infantile glaucoma without cataract, as well as anterior segment dysgenesis, megalocornea, corectopia, and persistent pupillary membrane. Three patients had persistent pupillary membrane, and 3 patients had retinal detachment. All family members with cataract had visually significant lens opacities and underwent lens extraction. Cataract was usually bilateral, and age at diagnosis ranged from birth to 35 years, with age at first surgery ranging from 4 to 40 years. Slit-lamp images of cataracts were not available; however, opacities had been described as punctate cortical in 1 patient and posterior subcapsular in another. A diagnosis of glaucoma was made based on significantly elevated intraocular pressure (greater than 30 mmHg) and in some cases was accompanied by visual field and/or optic nerve abnormalities; age at diagnosis ranged from birth into the fifth decade. </p>
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<p>The transmission pattern of CTRCT50 in a large 5-generation family reported by Bennett et al. (2014) was consistent with autosomal dominant inheritance. </p>
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<p>In affected members of a large 5-generation family with autosomal dominant cataract with or without glaucoma, who were negative for mutation in genes encoding ocular transcription factors and other candidate genes, Bennett et al. (2014) performed genomewide linkage analysis and detected significant evidence of linkage on chromosome 9q. Haplotype analysis defined a 46-Mb common disease interval spanning the pericentric region that cosegregated with disease in all affected relatives. After analysis of recombination events, the authors narrowed the disease interval to a 39.7-Mb interval between markers rs2073478 and D9S284, noting that it excluded the adjacent locus for autosomal recessive pulverulent cataract (CTRCT26; 605749) and the cataract (CTRCT36; 613887)-associated gene TDRD7 (611258). </p>
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<p>In affected members of a large 5-generation family autosomal dominant cataract with or without glaucoma mapped to chromosome 9q, Bennett et al. (2014) performed exome sequencing and identified a heterozygous missense mutation in the TRPM3 gene (I65M; 608961.0002). The variant segregated fully with disease in the family and was not found in 192 unrelated controls or in the 1000 Genomes Project or EVS databases. </p>
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<p>Using CRISPR/Cas9 gene editing technology, Zhou et al. (2021) generated knock-in mice with the TRPM3 cataract-associated I65M mutation (608961.0002) and compared them to Trpm3-null mice, noting that the null mice exhibited only mild impairment of lens growth, whereas Trpm3 M/M homozygotes developed severe progressive anterior pyramid-like cataract with microphthalmia. In addition, heterozygous Trpm3 I/M and hemizygous Trpm3 M/- mutants developed anterior pyramidal cataract with delayed onset, consistent with a semidominant lens phenotype. Histochemical staining revealed abnormal accumulation of calcium phosphate-like deposits and collagen fibrils in Trpm3-mutant lenses, and immunoblotting detected increased alpha-II-spectrin (SPTAN1; 182810) cleavage products consistent with calpain (see 114220) hyperactivation. Immunofluorescence confocal microscopy of Trpm3-M/M mutant lenses revealed fiber cell membrane degeneration that was accompanied by accumulation of alpha-smooth muscle actin (see 102620)-positive myofibroblast-like cells and macrosialin (CD68; 153634)-positive macrophage-like cells. The authors concluded that Trpm3 deficiency impairs lens growth but not lens transparency, and that Trpm3 dysfunction results in progressive lens degeneration and calcification, coupled with profibrotic and immune cell responses. </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Bennett, T. M., Mackay, D. S., Siegfried, C. J., Shiels, A.
<strong>Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.</strong>
PLoS One 9: e104000, 2014.
[PubMed: 25090642]
[Full Text: https://doi.org/10.1371/journal.pone.0104000]
</p>
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<p class="mim-text-font">
Zhou, Y., Bennett, T. M., Shiels, A.
<strong>Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses.</strong>
FASEB J. 35: e21288, 2021.
[PubMed: 33484482]
[Full Text: https://doi.org/10.1096/fj.202002037R]
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