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Entry
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- *300658 - NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300658</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300658">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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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>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000124479;t=ENST00000642620" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4693" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300658" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</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="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000124479;t=ENST00000642620" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000266" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000266" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300658" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</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="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=02404&isoform_id=02404_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/NDP" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/29947,35017,548342,4557789,20987432,119579780,189066656" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q00604" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</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="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=4693" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000124479;t=ENST00000642620" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=NDP" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=NDP" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4693" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/NDP" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4693" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4693" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000642620.1&hgg_start=43948776&hgg_end=43973390&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></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="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="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="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 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://search.clinicalgenome.org/kb/gene-dosage/HGNC:7678" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7678" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ndp" 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=300658[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>
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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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300658[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/NDP/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000124479" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=NDP" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=NDP" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=NDP" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.retina-international.org/files/sci-news/ndgmut.htm" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=NDP&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA31481" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</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/gene/HGNC:7678" 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="https://www.mousephenotype.org/data/genes/MGI:102570" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/NDP#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:102570" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4693/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002348/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4693" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060216-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</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="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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://reactome.org/content/query?q=NDP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></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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</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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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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> 15228007<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="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300658
|
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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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NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
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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>
|
|
</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
NDP GENE<br />
|
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NORRIN
|
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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="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NDP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NDP</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/194?start=-3&limit=10&highlight=194">Xp11.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:43948776-43973390&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:43,948,776-43,973,390</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=305390,310600" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/194?start=-3&limit=10&highlight=194">
|
|
Xp11.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Exudative vitreoretinopathy 2, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/305390"> 305390 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Norrie disease
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/310600"> 310600 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
|
|
|
|
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<p>The NDP gene encodes norrin, a secreted cysteine-rich protein that belongs to the cystine knot growth factor family (<a href="#25" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" 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>By positional cloning, <a href="#2" class="mim-tip-reference" title="Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T. <strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong> Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303235</a>] [<a href="https://doi.org/10.1038/ng0692-199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303235">Berger et al. (1992)</a> and <a href="#10" class="mim-tip-reference" title="Chen, Z.-Y., Hendriks, R. W., Jobling, M. A., Powell, J. F., Breakefield, X. O., Sims, K. B., Craig, I. W. <strong>Isolation and characterization of a candidate gene for Norrie disease.</strong> Nature Genet. 1: 204-208, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303236</a>] [<a href="https://doi.org/10.1038/ng0692-204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303236">Chen et al. (1992)</a> isolated a likely candidate gene for the site of mutation in Norrie disease (ND; <a href="/entry/310600">310600</a>). The gene was found to be expressed in retina, choroid, and fetal brain by <a href="#2" class="mim-tip-reference" title="Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T. <strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong> Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303235</a>] [<a href="https://doi.org/10.1038/ng0692-199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303235">Berger et al. (1992)</a> and in fetal and adult brain by <a href="#10" class="mim-tip-reference" title="Chen, Z.-Y., Hendriks, R. W., Jobling, M. A., Powell, J. F., Breakefield, X. O., Sims, K. B., Craig, I. W. <strong>Isolation and characterization of a candidate gene for Norrie disease.</strong> Nature Genet. 1: 204-208, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303236</a>] [<a href="https://doi.org/10.1038/ng0692-204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303236">Chen et al. (1992)</a>. It was evolutionarily conserved and encoded a predicted protein of 133 amino acids. The genomic equivalent of the cDNA spanned a maximum of 50 kb (<a href="#10" class="mim-tip-reference" title="Chen, Z.-Y., Hendriks, R. W., Jobling, M. A., Powell, J. F., Breakefield, X. O., Sims, K. B., Craig, I. W. <strong>Isolation and characterization of a candidate gene for Norrie disease.</strong> Nature Genet. 1: 204-208, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303236</a>] [<a href="https://doi.org/10.1038/ng0692-204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303236">Chen et al., 1992</a>) and was partly deleted in several typical Norrie disease patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1303235+1303236" 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>By studying the number and spacing of cysteine residues, <a href="#25" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al. (1992)</a> detected homologies between the NDP gene product and a C-terminal domain that is common to a group of proteins including mucins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" 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="#8" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Hendriks, R. W., Powell, J. F., Middleton-Price, H., Sims, K. B., Breakefield, X. O., Craig, I. W. <strong>Norrie disease gene: characterization of deletions and possible function.</strong> Genomics 16: 533-535, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8314592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8314592</a>] [<a href="https://doi.org/10.1006/geno.1993.1224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8314592">Chen et al. (1993)</a> found that expression of the NDP gene is not confined to the eye or to the brain. They found homology with cysteine-rich protein-binding domains of intermediate-early genes implicated in the regulation of cell proliferation. This led them to propose that the NDP molecule likewise may be involved in the pathway that regulates neural cell differentiation and proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8314592" 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="#27" class="mim-tip-reference" title="Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M., Murken, J. <strong>Molecular modeling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.</strong> Nature Genet. 5: 376-380, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298646</a>] [<a href="https://doi.org/10.1038/ng1293-376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298646">Meitinger et al. (1993)</a> reported that sequence pattern searches and 3-dimensional modeling suggested that the NDP protein has a tertiary structure similar to that of transforming growth factor-beta (see TGFB1, <a href="/entry/190180">190180</a>). The model identified NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiologic role of NDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Berger, W., van de Pol, D., Bachner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W., Ropers, H.-H. <strong>An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.</strong> Hum. Molec. Genet. 5: 51-59, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789439</a>] [<a href="https://doi.org/10.1093/hmg/5.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789439">Berger et al. (1996)</a> cloned the mouse Ndp gene, which encodes a polypeptide that shares 94% sequence identity with the human protein. RNA in situ hybridization revealed expression in retina, brain, and olfactory bulb and epithelium of 2-week-old mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789439" 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="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al. (1992)</a> found that only exons 2 and 3 of the NDP gene are translated. Exon 2 contains the first 58 codons of the open reading frame. The intron that follows it is roughly 14.5 kb. Exon 3 is the largest exon and contains residues 59-133 of the open reading frame and a 917-bp 3-prime untranslated region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" 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="#8" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Hendriks, R. W., Powell, J. F., Middleton-Price, H., Sims, K. B., Breakefield, X. O., Craig, I. W. <strong>Norrie disease gene: characterization of deletions and possible function.</strong> Genomics 16: 533-535, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8314592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8314592</a>] [<a href="https://doi.org/10.1006/geno.1993.1224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8314592">Chen et al. (1993)</a> determined that the NDP gene spans 28 kb and contains 3 exons, the first of which is entirely contained within the 5-prime untranslated region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8314592" 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="#35" class="mim-tip-reference" title="Sims, K. B., Lebo, R. V., Benson, G., Shalish, C., Schuback, D., Chen, Z. Y., Bruns, G., Craig, I. W., Golbus, M. S., Breakefield, X. O. <strong>The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.</strong> Hum. Molec. Genet. 1: 83-89, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301161</a>] [<a href="https://doi.org/10.1093/hmg/1.2.83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301161">Sims et al. (1992)</a> narrowed the mapping of the NDP gene to a 150-kb region on chromosome Xp defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease. They concluded that the order of loci was: pter--DXS7--MAOA--MAOB--NDP--cen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Berger, W., van de Pol, D., Bachner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W., Ropers, H.-H. <strong>An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.</strong> Hum. Molec. Genet. 5: 51-59, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789439</a>] [<a href="https://doi.org/10.1093/hmg/5.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789439">Berger et al. (1996)</a> mapped the mouse Ndp gene to the X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789439" 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 studies in COS-7 cells, <a href="#28" class="mim-tip-reference" title="Perez-Vilar, J., Hill, R. L. <strong>Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.</strong> J. Biol. Chem. 272: 33410-33415, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9407136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9407136</a>] [<a href="https://doi.org/10.1074/jbc.272.52.33410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9407136">Perez-Vilar and Hill (1997)</a> found that norrin was present only in cell lysates and the extracellular matrix. Further analysis showed that most of the norrin in the extracellular matrix formed cross-linked disulfide-bonded oligomers that contained up to 20 monomers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9407136" 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>By in situ hybridization of NDP mRNA, <a href="#18" class="mim-tip-reference" title="Hartzer, M. K., Cheng, M., Liu, X., Shastry, B. S. <strong>Localization of the Norrie disease gene mRNA by in situ hybridization.</strong> Brain Res. Bull. 49: 355-358, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10452356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10452356</a>] [<a href="https://doi.org/10.1016/s0361-9230(99)00071-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10452356">Hartzer et al. (1999)</a> found abundant signals in the outer nuclear, inner nuclear, and ganglion cell layers of the retina in all 3 species (mouse, rabbit, and human) examined. There was no significant expression in the vitreous humor, lens, or rod outer segment. High expression levels were also observed in the cerebellar granular layer, hippocampus, olfactory bulb, cortex, and epithelium of the rabbit brain. These data suggested that the NDP gene could play a critical role in the differentiation or maintenance of the differentiated state of the retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10452356" 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>Incomplete retinal vascularization occurs in both Norrie disease and familial exudative vitreoretinopathy (FEVR). One form of FEVR (EVR1; <a href="/entry/133780">133780</a>) is caused by defects in frizzled-4 (FZD4; <a href="/entry/604579">604579</a>), a presumptive Wnt receptor. <a href="#40" class="mim-tip-reference" title="Xu, Q., Wang, Y., Dabdoub, A., Smallwood, P. M., Williams, J., Woods, C., Kelley, M. W., Jiang, L., Tasman, W., Zhang, K., Nathans, J. <strong>Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.</strong> Cell 116: 883-895, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15035989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15035989</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00216-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15035989">Xu et al. (2004)</a> determined that norrin and FZD4 function as a ligand-receptor pair based on the similarity in vascular phenotypes caused by norrin and FZD4 mutations in humans and mice; the specificity and high affinity of norrin-FZD4 binding; the high efficiency with which norrin induces FZD4- and LRP (see <a href="/entry/107770">107770</a>)-dependent activation of the classic Wnt pathway; and the signaling defects displayed by disease-associated variants of norrin and FZD4. These data defined a norrin-FZD4 signaling system that plays a central role in vascular development in the eye and ear, and they indicated that ligands unrelated to Wnts can act through frizzled receptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15035989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#2" class="mim-tip-reference" title="Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T. <strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong> Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303235</a>] [<a href="https://doi.org/10.1038/ng0692-199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303235">Berger et al. (1992)</a> identified small deletions in the NDP gene in several patients with Norrie disease. In 12 of 17 unrelated patients with Norrie disease, <a href="#4" class="mim-tip-reference" title="Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H. <strong>Mutations in the candidate gene for Norrie disease.</strong> Hum. Molec. Genet. 1: 461-465, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1307245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1307245</a>] [<a href="https://doi.org/10.1093/hmg/1.7.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1307245">Berger et al. (1992)</a> identified 11 different mutations in the NDP gene (see, e.g., <a href="#0001">300658.0001</a>-<a href="#0002">300658.0002</a>). Most of the mutations were located in exon 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1307245+1303235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with Norrie disease, <a href="#25" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al. (1992)</a> identified 3 missense mutations in the NDP gene (<a href="#0003">300658.0003</a>-<a href="#0005">300658.0005</a>). All 3 mutations replaced evolutionarily conserved cysteines or created new cysteine codons, emphasizing the functional importance of these sites. These findings and the clinical features of Norrie disease suggested a possible role for the NDP gene in a neuroectodermal cell-cell interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Familial Exudative Vitreoretinopathy</em></strong></p><p>
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<a href="#33" class="mim-tip-reference" title="Shastry, B. S., Hejtmancik, J. F., Trese, M. T. <strong>Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.</strong> Hum. Mutat. 9: 396-401, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143917</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143917">Shastry et al. (1997)</a> reported 4 novel missense mutations in the NDP gene associated with 1 X-linked and 4 sporadic cases of familial exudative vitreoretinopathy (EVR2; <a href="/entry/305390">305390</a>) (see <a href="#0013">300658.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143917" 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>Among 109 patients with pediatric vitreoretinopathies, <a href="#39" class="mim-tip-reference" title="Wu, W.-C., Drenser, K., Trese, M., Capone, A., Jr., Dailey, W. <strong>Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.</strong> Arch. Ophthal. 125: 225-230, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17296899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17296899</a>] [<a href="https://doi.org/10.1001/archopht.125.2.225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17296899">Wu et al. (2007)</a> identified 11 with a mutation in the NDP gene. They found that NDP mutations disrupting the cysteine-knot motif corresponded to severe retinal dysgenesis and a diagnosis of Norrie disease, whereas patients with noncysteine mutations had varying degrees of avascular peripheral retina, extraretinal vasculature, and subretinal exudate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17296899" 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="#23" class="mim-tip-reference" title="Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K. <strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong> Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325173</a>] [<a href="https://doi.org/10.1167/iovs.06-1042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17325173">Kondo et al. (2007)</a> screened 62 FEVR and 3 ND Japanese probands and family members for mutations in the NDP gene and identified 5 different mutations (1 splicing and 4 missense) in 4 FEVR patients and 2 ND patients. One proband with a missense mutation in the signal sequence of NDP had significant phenotypic heterogeneity between the affected eyes, indicating a diagnosis of FEVR or ND. Another proband, who had a splicing mutation, exhibited typical features of ND, whereas a maternal nephew was diagnosed with FEVR. In addition, 1 FEVR family with a missense mutation had affected female carriers: the 5-year-old proband's 42-year-old mother and a 13-year-old sister had milder-appearing FEVR, whereas 2 other carrier sisters exhibited only retinal vascular tortuosity. However, in another FEVR family with the same missense mutation, a 39-year-old female carrier had normal fundi bilaterally. <a href="#23" class="mim-tip-reference" title="Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K. <strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong> Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325173</a>] [<a href="https://doi.org/10.1167/iovs.06-1042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17325173">Kondo et al. (2007)</a> noted that although ND and FEVR are viewed as distinct diseases, the phenotypic spectrum of each is diverse, and they share multiple common features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17325173" 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>Using a norrin-based reporter assay to analyze the effects of FEVR-causing mutations, <a href="#29" class="mim-tip-reference" title="Qin, M., Kondo, H., Tahira, T., Hayashi, K. <strong>Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.</strong> Hum. Genet. 122: 615-623, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17955262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17955262</a>] [<a href="https://doi.org/10.1007/s00439-007-0438-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17955262">Qin et al. (2008)</a> demonstrated that a nonsense mutation in FZD4 completely abolished signaling activity, whereas missense mutations in FZD4 and LRP5 caused a moderate level of reduction, and a double missense mutation in both genes caused a severe reduction in activity, correlating roughly with clinical phenotypes. Norrin mutants, however, showed variable effects on signal transduction, and no correlation with clinical phenotypes was observed; norrin mutants also showed impaired cell surface binding. <a href="#29" class="mim-tip-reference" title="Qin, M., Kondo, H., Tahira, T., Hayashi, K. <strong>Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.</strong> Hum. Genet. 122: 615-623, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17955262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17955262</a>] [<a href="https://doi.org/10.1007/s00439-007-0438-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17955262">Qin et al. (2008)</a> concluded that norrin signaling is involved in FEVR pathogenesis, but suggested the presence of an unknown parallel pathway at the level of receptor/ligand binding as evidenced by the moderate and variable signal reduction lacking a clear genotype/phenotype correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17955262" 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="Berger, W., van de Pol, D., Bachner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W., Ropers, H.-H. <strong>An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.</strong> Hum. Molec. Genet. 5: 51-59, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789439</a>] [<a href="https://doi.org/10.1093/hmg/5.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789439">Berger et al. (1996)</a> used gene targeting technology to generate Ndp mutant mice. Hemizygous mice carrying a replacement mutation in exon 2 of the Ndp gene developed retrolental structures in the vitreous body and showed an overall disorganization of the retinal ganglion cell layer. The outer plexiform layer disappeared occasionally, resulting in a juxtaposed inner and outer nuclear layer. The ocular findings were consistent with observations in patients with Norrie disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789439" 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="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894867 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894867;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894867?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011425 OR RCV001545665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011425, RCV001545665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011425...</a>
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<p>In a patient with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#4" class="mim-tip-reference" title="Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H. <strong>Mutations in the candidate gene for Norrie disease.</strong> Hum. Molec. Genet. 1: 461-465, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1307245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1307245</a>] [<a href="https://doi.org/10.1093/hmg/1.7.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1307245">Berger et al. (1992)</a> identified a 685G-C transversion in exon 3 of the NDP gene, resulting in an arg90-to-pro (R90P) substitution. The patient had no hearing impairment or mental disturbances, but had a family history of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1307245" 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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<strong>.0002 NORRIE DISEASE</strong>
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NDP, SER75CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894868 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894868;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011426 OR RCV003313916" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011426, RCV003313916" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011426...</a>
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<span class="mim-text-font">
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<p>In a patient with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#4" class="mim-tip-reference" title="Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H. <strong>Mutations in the candidate gene for Norrie disease.</strong> Hum. Molec. Genet. 1: 461-465, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1307245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1307245</a>] [<a href="https://doi.org/10.1093/hmg/1.7.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1307245">Berger et al. (1992)</a> identified a 640C-G transversion in exon 3 of the NDP gene, resulting in a ser75-to-cys (S75C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1307245" 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="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 NORRIE DISEASE</strong>
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NDP, VAL60GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894869;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011427" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011427" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011427</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a patient with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#25" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al. (1992)</a> identified a 595T-A in the NDP gene, resulting in a val60-to-glu (V60E) substitution, inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" 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="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 NORRIE DISEASE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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NDP, TYR44CYS
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894870;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011428 OR RCV001857330" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011428, RCV001857330" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011428...</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#25" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al. (1992)</a> identified a 547A-G transition in the NDP gene, resulting in a tyr44-to-cys (Y44C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 NORRIE DISEASE</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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NDP, CYS96TYR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894871;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011429" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011429" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011429</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#25" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. <strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong> Nature Genet. 2: 139-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>] [<a href="https://doi.org/10.1038/ng1092-139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303264">Meindl et al. (1992)</a> identified a 703G-A transition in the NDP gene, resulting in a cys96-to-tyr (C96Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" 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>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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NDP, LEU124PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28933684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933684;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28933684?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28933684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28933684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011430 OR RCV001851794" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011430, RCV001851794" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011430...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with X-linked exudative vitreoretinopathy (EVR2; <a href="/entry/305390">305390</a>) manifested by members of 4 generations (<a href="#13" class="mim-tip-reference" title="Dudgeon, J. <strong>Familial exudative vitreo-retinopathy.</strong> Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/95062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">95062</a>]" pmid="95062">Dudgeon, 1979</a>) and found to have possible linkage to markers in the region of the Norrie disease locus (<a href="#16" class="mim-tip-reference" title="Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W. <strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong> Brit. J. Ophthal. 77: 168-170, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8457509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8457509</a>] [<a href="https://doi.org/10.1136/bjo.77.3.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8457509">Fullwood et al., 1993</a>), <a href="#7" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W. <strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong> Nature Genet. 5: 180-183, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252044</a>] [<a href="https://doi.org/10.1038/ng1093-180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252044">Chen et al. (1993)</a> demonstrated a C-to-T transition in the NDP gene, resulting in a leu124-to-phe (L124F) substitution in the highly conserved region of the NDP gene. The mutation was absent in unaffected family members and in normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=95062+8252044+8457509" 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="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894872 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894872;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011431" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011431" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011431</a>
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<p>In a family with a manifesting female carrier of Norrie disease (<a href="/entry/310600">310600</a>), <a href="#9" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Woodruff, G., Young, I., Breakefield, X. O., Craig, I. W. <strong>Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.</strong> Hum. Molec. Genet. 2: 1727-1729, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268931</a>] [<a href="https://doi.org/10.1093/hmg/2.10.1727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8268931">Chen et al. (1993)</a> identified a 614G-C transversion in the NDP gene, resulting in a cys69-to-ser (C69S) substitution. The carrier female had been noted to have severely impaired vision at age 2. Examination revealed a cataract in the right eye and total retinal detachment with a vascularized mass behind the lens. In the left eye, a retinal fold and traction retinal detachment in the temporal periphery were evident. The child was otherwise normal. Her carrier mother was normal. Two of the mother's brothers had Norrie disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8268931" 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="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894873 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894873;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894873?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011432 OR RCV000418772" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011432, RCV000418772" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011432...</a>
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<p>In a patient with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#38" class="mim-tip-reference" title="Wong, F., Goldberg, M. F., Hao, Y. <strong>Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.</strong> Arch. Ophthal. 111: 1553-1557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240113</a>] [<a href="https://doi.org/10.1001/archopht.1993.01090110119036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8240113">Wong et al. (1993)</a> identified a dinucleotide GC-to-AA change in the NDP gene, resulting in a cys128-to-ter (C128X) substitution. The mutant protein lacked the last 6 amino acids of the carboxyl terminus. <a href="#38" class="mim-tip-reference" title="Wong, F., Goldberg, M. F., Hao, Y. <strong>Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.</strong> Arch. Ophthal. 111: 1553-1557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240113</a>] [<a href="https://doi.org/10.1001/archopht.1993.01090110119036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8240113">Wong et al. (1993)</a> pointed out that the NDP protein normally has 11 cysteines, that the codon 128 mutation involved the tenth cysteine, and that most reported mutations have involved this amino acid residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240113" 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="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28933685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933685;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28933685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28933685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011433 OR RCV001857331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011433, RCV001857331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011433...</a>
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<p>In 2 Japanese males with Norrie disease (<a href="/entry/310600">310600</a>) from apparently unrelated families, <a href="#20" class="mim-tip-reference" title="Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., Kuroda, N. <strong>Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.</strong> Hum. Genet. 95: 105-108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7814011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7814011</a>] [<a href="https://doi.org/10.1007/BF00225085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7814011">Isashiki et al. (1995)</a> identified an A-to-G transition at the initiation codon of exon 2 of the NDP gene, resulting in a met1-to-val (M1V) substitution. Both mothers were heterozygous for the mutation. Neither patient showed mental retardation or hearing impairment. Although the 2 families had lived in the same prefecture in southwestern Japan for at least 2 centuries, no relationship between the 2 families could be identified. All previously identified mutations had occurred in single families, indicating a marked heterogeneity of mutations. The finding of the same mutation in 2 apparently unrelated families, taken with the rarity of the disease, suggested that they shared a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7814011" 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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<strong>.0010 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894878 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894878;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011434 OR RCV000484893 OR RCV003334376 OR RCV004814881" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011434, RCV000484893, RCV003334376, RCV004814881" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011434...</a>
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<p>In a 29-year-old male patient with X-linked exudative vitreoretinopathy (EVR2; <a href="/entry/305390">305390</a>), <a href="#14" class="mim-tip-reference" title="Fuchs, S., Kellner, U., Wedemann, H., Gal, A. <strong>Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy.</strong> Hum. Mutat. 6: 257-259, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8535448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8535448</a>] [<a href="https://doi.org/10.1002/humu.1380060312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8535448">Fuchs et al. (1995)</a> found an arg121-to-trp (R121W) mutation in the NDP gene. Low visual acuity had been noted since birth. When the patient was 3 years old, the right eye was enucleated because an intraocular tumor was suspected. Histologic examination showed severe intraocular inflammation without malignancy. Visual acuity in the left eye remained unchanged until adulthood. The retina showed severe temporal dragging of the vessels, including the macula. Severely reduced visual acuity was known in several maternal male relatives; the mother and maternal grandmother had normal visual acuity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535448" 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="#32" class="mim-tip-reference" title="Shastry, B. S., Hejtmancik, J. F., Plager, D. A., Hartzer, M. K., Trese, M. T. <strong>Linkage and candidate gene analysis in X-linked familial exudative vitreoretinopathy.</strong> Genomics 27: 341-344, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558002</a>] [<a href="https://doi.org/10.1006/geno.1995.1052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558002">Shastry et al. (1995)</a> identified the same mutation in affected members in 3 generations of a family segregating X-linked exudative vitreoretinopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558002" 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="#34" class="mim-tip-reference" title="Shastry, B. S. <strong>Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.</strong> Biochem. Biophys. Res. Commun. 246: 35-38, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618247</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618247">Shastry (1998)</a> identified the R121W mutation in a 'simplex' case of exudative vitreoretinopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618247" 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 different substitution at the same codon (R121L) has been described (<a href="#0017">300658.0017</a>).</p>
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<strong>.0011 NORRIE DISEASE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894879;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011435" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011435" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011435</a>
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<p>In affected members of a large Cuban kindred with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#15" class="mim-tip-reference" title="Fuchs, S., Xu, S. Y., Caballero, M., Salcedo, M., La O, A., Wedemann, H., Gal, A. <strong>A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.</strong> Hum. Molec. Genet. 3: 655-656, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8069314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8069314</a>] [<a href="https://doi.org/10.1093/hmg/3.4.655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8069314">Fuchs et al. (1994)</a> identified a 454T-G transversion in the NDP gene, resulting in a leu13-to-arg (L13R) substitution. The nucleotide substitution creates a new HhaI restriction site. This mutation was identified in a large Cuban pedigree which consisted of 380 members, 46 of whom were affected. The disorder showed a typical pattern of X-linked inheritance over 7 generations. Eighteen patients examined shared similar clinical features. Pseudoglioma was always present in both eyes, frequently with phthisis bulbi, enophthalmos, opaque cornea, and cataract. In addition, about 45% of the patients showed moderate or severe mental retardation. Hearing loss was recognized in 78% of the patients, with different ages of onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8069314" 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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<strong>.0012 NORRIE DISEASE</strong>
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NDP, LEU61PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894880;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011436 OR RCV004814882 OR RCV005089227" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011436, RCV004814882, RCV005089227" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011436...</a>
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<p><a href="#30" class="mim-tip-reference" title="Rehm, H. L., Gutierrez-Espeleta, G. A., Garcia, R., Jimenez, G., Khetarpal, U., Priest, J. M., Sims, K. B., Keats, B. J. B., Morton, C. C. <strong>Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.</strong> Hum. Mutat. 9: 402-408, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143918</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143918">Rehm et al. (1997)</a> identified a large Costa Rican kindred in which 15 males were afflicted with congenital blindness, progressive hearing loss, and venous insufficiency. Because of an X-linked pattern of inheritance and the ophthalmologic and otologic findings, including bilateral retinal dysplasia and detachment and progressive bilateral sensorineural hearing loss, a tentative diagnosis of Norrie disease (<a href="/entry/310600">310600</a>) was considered. However, venous insufficiency was a clinical finding apparently not previously recognized in association with Norrie disease. Linkage analysis using microsatellite repeat markers demonstrated linkage to the Norrie disease region and studies of the NDP gene showed a point mutation in the third exon resulting in an leu61-to-phe (L61F) substitution. No obligate carrier females had any ocular or relevant pathology, but all affected males had varicose veins with peripheral venous stasis ulcers. Phlebography and other radiologic examinations showed deep venous system insufficiency and moderate dilatation of veins. Transfemoral arteriography showed patency of the femoral and distal arterial system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143918" 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="0013" class="mim-anchor"></a>
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<strong>.0013 EXUDATIVE VITREORETINOPATHY, X-LINKED</strong>
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NDP, HIS42ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894874;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894874?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011437 OR RCV000520034 OR RCV004585995 OR RCV005049330" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011437, RCV000520034, RCV004585995, RCV005049330" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011437...</a>
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<p><a href="#33" class="mim-tip-reference" title="Shastry, B. S., Hejtmancik, J. F., Trese, M. T. <strong>Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.</strong> Hum. Mutat. 9: 396-401, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143917</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143917">Shastry et al. (1997)</a> found an H42R mutation of the NDP gene segregating with exudative vitreoretinopathy (<a href="/entry/305390">305390</a>) in 3 generations of a family. They also identified mutations in the NDP gene in 4 sporadic cases of FEVR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143917" 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="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 NORRIE DISEASE</strong>
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</h4>
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NDP, 1-BP DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2147209204 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147209204;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2147209204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2147209204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011438" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011438" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011438</a>
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<p>In a boy with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#12" class="mim-tip-reference" title="Chynn, E. W., Walton, D. S., Hahn, L. B., Dryja, T. P. <strong>Norrie disease: diagnosis of a simplex case by DNA analysis.</strong> Arch. Ophthal. 114: 1136-1138, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8790105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8790105</a>] [<a href="https://doi.org/10.1001/archopht.1996.01100140338018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8790105">Chynn et al. (1996)</a> identified a 1-bp deletion in codon 35 of the NDP gene. The deletion changed the amino acids encoded by codons 35 through 39 and resulted in a premature stop at codon 40. The unaffected mother was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8790105" 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="0015" class="mim-anchor"></a>
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<h4>
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<strong>.0015 NORRIE DISEASE</strong>
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NDP, ALA105THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894875;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894875?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011439" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011439" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011439</a>
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<p>In an Italian family in which 5 males in 4 generations had characteristic ophthalmologic findings of Norrie disease (<a href="/entry/310600">310600</a>), <a href="#36" class="mim-tip-reference" title="Torrente, I., Mangino, M., Gennarelli, M., Novelli, G., Giannotti, A., Vadala, P., Dallapiccola, B. <strong>Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. (Letter)</strong> Am. J. Med. Genet. 72: 242-244, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382152</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382152">Torrente et al. (1997)</a> identified an ala105-to-thr (A105T) missense mutation in the NDP gene. Affected individuals had no mental retardation or hearing abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382152" 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="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
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NDP, CYS110GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894876;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011440" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011440" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011440</a>
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<p>In an Italian family with exudative vitreoretinopathy (EVR2; <a href="/entry/305390">305390</a>) in an X-linked pedigree pattern, <a href="#36" class="mim-tip-reference" title="Torrente, I., Mangino, M., Gennarelli, M., Novelli, G., Giannotti, A., Vadala, P., Dallapiccola, B. <strong>Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. (Letter)</strong> Am. J. Med. Genet. 72: 242-244, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382152</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382152">Torrente et al. (1997)</a> demonstrated a cys110-to-gly (C110G) mutation in the NDP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382152" 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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<strong>.0017 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852220 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852220;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011441" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011441" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011441</a>
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<p>In a large kindred with X-linked recessive exudative vitreoretinopathy (EVR2; <a href="/entry/305390">305390</a>), <a href="#22" class="mim-tip-reference" title="Johnson, K., Mintz-Hittner, H. A., Conley, Y. P., Ferrell, R. E. <strong>X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.</strong> Clin. Genet. 50: 113-115, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946107</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02363.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946107">Johnson et al. (1996)</a> identified an arg121-to-leu (R121L) mutation in the NDP gene. The clinical phenotype and rate of disease progression were extremely variable, with progression to total retinal detachment occurring before the age of 2 years in some and later than 21 years in others. <a href="#22" class="mim-tip-reference" title="Johnson, K., Mintz-Hittner, H. A., Conley, Y. P., Ferrell, R. E. <strong>X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.</strong> Clin. Genet. 50: 113-115, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946107</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02363.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946107">Johnson et al. (1996)</a> pointed out that all mutations identified in X-linked vitreoretinopathy have been missense mutations, presumably not affecting the 3-dimensional structure of the NDP gene product. Note that the same codon is involved in the arg121-to-trp mutation (<a href="#0010">300658.0010</a>). <a href="#22" class="mim-tip-reference" title="Johnson, K., Mintz-Hittner, H. A., Conley, Y. P., Ferrell, R. E. <strong>X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.</strong> Clin. Genet. 50: 113-115, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946107</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02363.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946107">Johnson et al. (1996)</a> suggested that the mutations causing X-linked vitreoretinopathy cluster around residues 121-126, but this is not entirely true, as indicated by the cys110-to-gly mutation (<a href="#0016">300658.0016</a>) and the his42-to-arg mutation (<a href="#0013">300658.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946107" 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="0018" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0018 NORRIE DISEASE</strong>
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NDP, CYS96TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894877 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894877;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011442" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011442" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011442</a>
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<p><a href="#5" class="mim-tip-reference" title="Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D. <strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong> Hum. Molec. Genet. 8: 2031-2035, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484772">Black et al. (1999)</a> reported a woman with a unilateral variant of Coats disease (<a href="/entry/300216">300216</a>) who gave birth to a son affected by Norrie disease (<a href="/entry/310600">310600</a>). Both carried a 704C-G transversion in the NDP gene, resulting in a cys96-to-trp (C96W) substitution. Subsequent analysis of the retinas of 9 enucleated eyes from males with Coats disease demonstrated a somatic C96W mutation in the NDP gene in 1 that was not present in nonretinal tissue. <a href="#5" class="mim-tip-reference" title="Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D. <strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong> Hum. Molec. Genet. 8: 2031-2035, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484772">Black et al. (1999)</a> suggested that Coats telangiectasis is secondary to somatic mutation in the NDP gene, which results in a deficiency of norrin within the developing retina. This supported observations that the protein is critical for normal retinal vasculogenesis. The authors noted that a cys96-to-tyr substitution (<a href="#0005">300658.0005</a>) had previously been described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484772" 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="0019" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0019 NORRIE DISEASE</strong>
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NDP, VAL45GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852221 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852221;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011443" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011443" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011443</a>
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<span class="mim-text-font">
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<p>In a boy with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#24" class="mim-tip-reference" title="Lev, D., Weigl, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T., Watemberg, N. <strong>A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.</strong> Am. J. Med. Genet. 143A: 921-924, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334993</a>] [<a href="https://doi.org/10.1002/ajmg.a.31531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17334993">Lev et al. (2007)</a> identified a 134T-A transversion in the NDP gene, resulting in a val45-to-glu (V45E) substitution. He had profound mental retardation and myoclonic seizures with hypsarrhythmia on EEG. His asymptomatic mother was heterozygous for the mutation. Bioinformatic analysis indicated that V45E lies within an extracellular localization motif and may alter the distribution pattern of norrin, which in turn may alter norrin-mediated cell-cell communication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334993" 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="0020" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0020 NORRIE DISEASE</strong>
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</span>
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</h4>
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NDP, SER73TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894882 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894882;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011444" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011444" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011444</a>
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<p>In affected male members of a family with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#37" class="mim-tip-reference" title="Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W. <strong>Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.</strong> Hum. Mutat. 9: 53-56, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990009</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990009">Walker et al. (1997)</a> identified a 626C-A transversion in exon 3 of the NDP gene, resulting in a ser73-to-ter (S73X) substitution. Affected members had a severe ocular phenotype, but no mental retardation or deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990009" 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="0021" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0021 NORRIE DISEASE</strong>
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</h4>
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NDP, SER101PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894883 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894883;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011445" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011445" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011445</a>
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<p>In affected male members of a family with Norrie disease (<a href="/entry/310600">310600</a>), <a href="#37" class="mim-tip-reference" title="Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W. <strong>Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.</strong> Hum. Mutat. 9: 53-56, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990009</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990009">Walker et al. (1997)</a> identified a 710C-T transition in exon 3 of the NDP gene, resulting in a ser101-to-phe (S101F) substitution. Affected members had a less severe ocular phenotype compared to other patients with Norrie disease and no mental retardation or deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Bergen1993" class="mim-tip-reference" title="Bergen, A. A. B., Wapenaar, M. C., Schuurman, E. J. M., Diergaarde, P. J., Lerach, H., Monaco, A. P., Bakker, E., Bleeker-Wagemakers, E. M., van Ommen, G. J. B. <strong>Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.</strong> Cytogenet. Cell Genet. 62: 231-235, 1993.">Bergen et al. (1993)</a>; <a href="#Bleeker-Wagemakers1985" class="mim-tip-reference" title="Bleeker-Wagemakers, L. M., Friedrich, U., Gal, A., Wienker, T. F., Warburg, M., Ropers, H.-H. <strong>Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.</strong> Hum. Genet. 71: 211-214, 1985.">Bleeker-Wagemakers et al. (1985)</a>; <a href="#Chen1992" class="mim-tip-reference" title="Chen, Z.-Y., Sims, K. B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X. O., Davies, K. E., Craig, I. W. <strong>Characterization of a YAC containing part or all of the Norrie disease locus.</strong> Hum. Molec. Genet. 1: 161-164, 1992.">Chen et al.
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(1992)</a>; <a href="#Harmon1993" class="mim-tip-reference" title="Harmon, D. L., Gardner-Medwin, D., Stirling, J. L. <strong>Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.</strong> J. Med. Genet. 30: 123-128, 1993.">Harmon et al. (1993)</a>; <a href="#Hattori1991" class="mim-tip-reference" title="Hattori, Y., Yamashiro, Y., Ohba, Y., Miyaji, T., Morishita, M., Yamamoto, K., Yamamoto, K., Narai, S., Kimura, A. <strong>A new beta-thalassemia mutation (initiation codon ATG-to-GTG) found in the Japanese population.</strong> Hemoglobin 15: 317-325, 1991.">Hattori et al. (1991)</a>; <a href="#Isashiki1995" class="mim-tip-reference" title="Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., Tanabe, U. <strong>Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter)</strong> Brit. J. Ophthal. 79: 703-708, 1995.">Isashiki et al.
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(1995)</a>; <a href="#Meindl1995" class="mim-tip-reference" title="Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., Meitinger, T. <strong>Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.</strong> Hum. Molec. Genet. 4: 489-490, 1995.">Meindl et al. (1995)</a>; <a href="#Schuback1995" class="mim-tip-reference" title="Schuback, D. E., Chen, Z. Y., Craig, I. W., Breakefield, X. O., Sims, K. B. <strong>Mutations in the Norrie disease gene.</strong> Hum. Mutat. 5: 285-292, 1995.">Schuback et al. (1995)</a>
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Bergen, A. A. B., Wapenaar, M. C., Schuurman, E. J. M., Diergaarde, P. J., Lerach, H., Monaco, A. P., Bakker, E., Bleeker-Wagemakers, E. M., van Ommen, G. J. B.
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<strong>Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.</strong>
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Cytogenet. Cell Genet. 62: 231-235, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8440142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8440142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8440142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000133484" target="_blank">Full Text</a>]
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Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T.
|
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<strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong>
|
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Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303235" 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/10.1038/ng0692-199" target="_blank">Full Text</a>]
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<a id="Berger1996" class="mim-anchor"></a>
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Berger, W., van de Pol, D., Bachner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W., Ropers, H.-H.
|
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<strong>An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.</strong>
|
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Hum. Molec. Genet. 5: 51-59, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789439" 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/5.1.51" target="_blank">Full Text</a>]
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Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H.
|
|
<strong>Mutations in the candidate gene for Norrie disease.</strong>
|
|
Hum. Molec. Genet. 1: 461-465, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1307245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1307245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1307245" 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/1.7.461" target="_blank">Full Text</a>]
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<a id="Black1999" class="mim-anchor"></a>
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Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D.
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<strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong>
|
|
Hum. Molec. Genet. 8: 2031-2035, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484772" 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/8.11.2031" target="_blank">Full Text</a>]
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<a id="Bleeker-Wagemakers1985" class="mim-anchor"></a>
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Bleeker-Wagemakers, L. M., Friedrich, U., Gal, A., Wienker, T. F., Warburg, M., Ropers, H.-H.
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<strong>Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.</strong>
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Hum. Genet. 71: 211-214, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2998969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2998969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2998969" 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/BF00284575" target="_blank">Full Text</a>]
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<a id="Chen1993" class="mim-anchor"></a>
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Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W.
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<strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong>
|
|
Nature Genet. 5: 180-183, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8252044" 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/10.1038/ng1093-180" target="_blank">Full Text</a>]
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Chen, Z.-Y., Battinelli, E. M., Hendriks, R. W., Powell, J. F., Middleton-Price, H., Sims, K. B., Breakefield, X. O., Craig, I. W.
|
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<strong>Norrie disease gene: characterization of deletions and possible function.</strong>
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Genomics 16: 533-535, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8314592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8314592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8314592" 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/10.1006/geno.1993.1224" target="_blank">Full Text</a>]
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Chen, Z.-Y., Battinelli, E. M., Woodruff, G., Young, I., Breakefield, X. O., Craig, I. W.
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<strong>Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.</strong>
|
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Hum. Molec. Genet. 2: 1727-1729, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8268931" 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/2.10.1727" target="_blank">Full Text</a>]
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Chen, Z.-Y., Hendriks, R. W., Jobling, M. A., Powell, J. F., Breakefield, X. O., Sims, K. B., Craig, I. W.
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<strong>Isolation and characterization of a candidate gene for Norrie disease.</strong>
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Nature Genet. 1: 204-208, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303236" 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/10.1038/ng0692-204" target="_blank">Full Text</a>]
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Chen, Z.-Y., Sims, K. B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X. O., Davies, K. E., Craig, I. W.
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<strong>Characterization of a YAC containing part or all of the Norrie disease locus.</strong>
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Hum. Molec. Genet. 1: 161-164, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303171" 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/1.3.161" target="_blank">Full Text</a>]
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Chynn, E. W., Walton, D. S., Hahn, L. B., Dryja, T. P.
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<strong>Norrie disease: diagnosis of a simplex case by DNA analysis.</strong>
|
|
Arch. Ophthal. 114: 1136-1138, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8790105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8790105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8790105" 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/archopht.1996.01100140338018" target="_blank">Full Text</a>]
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|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Dudgeon1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dudgeon, J.
|
|
<strong>Familial exudative vitreo-retinopathy.</strong>
|
|
Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/95062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">95062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=95062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Fuchs1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fuchs, S., Kellner, U., Wedemann, H., Gal, A.
|
|
<strong>Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy.</strong>
|
|
Hum. Mutat. 6: 257-259, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8535448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8535448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.1380060312" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Fuchs1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fuchs, S., Xu, S. Y., Caballero, M., Salcedo, M., La O, A., Wedemann, H., Gal, A.
|
|
<strong>A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.</strong>
|
|
Hum. Molec. Genet. 3: 655-656, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8069314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8069314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8069314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/3.4.655" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Fullwood1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W.
|
|
<strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong>
|
|
Brit. J. Ophthal. 77: 168-170, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8457509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8457509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8457509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bjo.77.3.168" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Harmon1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harmon, D. L., Gardner-Medwin, D., Stirling, J. L.
|
|
<strong>Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.</strong>
|
|
J. Med. Genet. 30: 123-128, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8445615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8445615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8445615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.30.2.123" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Hartzer1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hartzer, M. K., Cheng, M., Liu, X., Shastry, B. S.
|
|
<strong>Localization of the Norrie disease gene mRNA by in situ hybridization.</strong>
|
|
Brain Res. Bull. 49: 355-358, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10452356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10452356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10452356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0361-9230(99)00071-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Hattori1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hattori, Y., Yamashiro, Y., Ohba, Y., Miyaji, T., Morishita, M., Yamamoto, K., Yamamoto, K., Narai, S., Kimura, A.
|
|
<strong>A new beta-thalassemia mutation (initiation codon ATG-to-GTG) found in the Japanese population.</strong>
|
|
Hemoglobin 15: 317-325, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1686262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1686262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1686262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/03630269109027886" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Isashiki1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., Kuroda, N.
|
|
<strong>Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.</strong>
|
|
Hum. Genet. 95: 105-108, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7814011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7814011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7814011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00225085" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Isashiki1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., Tanabe, U.
|
|
<strong>Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter)</strong>
|
|
Brit. J. Ophthal. 79: 703-708, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7662640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7662640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7662640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bjo.79.7.703" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Johnson1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Johnson, K., Mintz-Hittner, H. A., Conley, Y. P., Ferrell, R. E.
|
|
<strong>X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.</strong>
|
|
Clin. Genet. 50: 113-115, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02363.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Kondo2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K.
|
|
<strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17325173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.06-1042" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Lev2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lev, D., Weigl, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T., Watemberg, N.
|
|
<strong>A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.</strong>
|
|
Am. J. Med. Genet. 143A: 921-924, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17334993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17334993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.31531" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Meindl1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H.
|
|
<strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong>
|
|
Nature Genet. 2: 139-143, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1092-139" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Meindl1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., Meitinger, T.
|
|
<strong>Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.</strong>
|
|
Hum. Molec. Genet. 4: 489-490, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7795608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.3.489" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Meitinger1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M., Murken, J.
|
|
<strong>Molecular modeling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.</strong>
|
|
Nature Genet. 5: 376-380, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1293-376" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Perez-Vilar1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Perez-Vilar, J., Hill, R. L.
|
|
<strong>Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.</strong>
|
|
J. Biol. Chem. 272: 33410-33415, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9407136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9407136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9407136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.272.52.33410" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Qin2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Qin, M., Kondo, H., Tahira, T., Hayashi, K.
|
|
<strong>Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.</strong>
|
|
Hum. Genet. 122: 615-623, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17955262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17955262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17955262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-007-0438-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Rehm1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rehm, H. L., Gutierrez-Espeleta, G. A., Garcia, R., Jimenez, G., Khetarpal, U., Priest, J. M., Sims, K. B., Keats, B. J. B., Morton, C. C.
|
|
<strong>Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.</strong>
|
|
Hum. Mutat. 9: 402-408, 1997.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5" target="_blank">Full Text</a>]
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</p>
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<a id="31" class="mim-anchor"></a>
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<a id="Schuback1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuback, D. E., Chen, Z. Y., Craig, I. W., Breakefield, X. O., Sims, K. B.
|
|
<strong>Mutations in the Norrie disease gene.</strong>
|
|
Hum. Mutat. 5: 285-292, 1995.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7627181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7627181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7627181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1380050403" target="_blank">Full Text</a>]
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</p>
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<a id="32" class="mim-anchor"></a>
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<a id="Shastry1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shastry, B. S., Hejtmancik, J. F., Plager, D. A., Hartzer, M. K., Trese, M. T.
|
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<strong>Linkage and candidate gene analysis in X-linked familial exudative vitreoretinopathy.</strong>
|
|
Genomics 27: 341-344, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558002" 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/10.1006/geno.1995.1052" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Shastry1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shastry, B. S., Hejtmancik, J. F., Trese, M. T.
|
|
<strong>Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.</strong>
|
|
Hum. Mutat. 9: 396-401, 1997.
|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Shastry1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shastry, B. S.
|
|
<strong>Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 246: 35-38, 1998.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618247" 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/10.1006/bbrc.1998.8565" target="_blank">Full Text</a>]
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</p>
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<a id="35" class="mim-anchor"></a>
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<a id="Sims1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sims, K. B., Lebo, R. V., Benson, G., Shalish, C., Schuback, D., Chen, Z. Y., Bruns, G., Craig, I. W., Golbus, M. S., Breakefield, X. O.
|
|
<strong>The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.</strong>
|
|
Hum. Molec. Genet. 1: 83-89, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301161" 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/1.2.83" target="_blank">Full Text</a>]
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Torrente1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Torrente, I., Mangino, M., Gennarelli, M., Novelli, G., Giannotti, A., Vadala, P., Dallapiccola, B.
|
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<strong>Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. (Letter)</strong>
|
|
Am. J. Med. Genet. 72: 242-244, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m" target="_blank">Full Text</a>]
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Walker1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W.
|
|
<strong>Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.</strong>
|
|
Hum. Mutat. 9: 53-56, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q" target="_blank">Full Text</a>]
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Wong1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wong, F., Goldberg, M. F., Hao, Y.
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<strong>Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.</strong>
|
|
Arch. Ophthal. 111: 1553-1557, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8240113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8240113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8240113" 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/archopht.1993.01090110119036" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Wu2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, W.-C., Drenser, K., Trese, M., Capone, A., Jr., Dailey, W.
|
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<strong>Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.</strong>
|
|
Arch. Ophthal. 125: 225-230, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17296899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17296899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17296899" 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/archopht.125.2.225" target="_blank">Full Text</a>]
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Xu2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, Q., Wang, Y., Dabdoub, A., Smallwood, P. M., Williams, J., Woods, C., Kelley, M. W., Jiang, L., Tasman, W., Zhang, K., Nathans, J.
|
|
<strong>Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.</strong>
|
|
Cell 116: 883-895, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15035989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15035989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15035989" 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/s0092-8674(04)00216-8" target="_blank">Full Text</a>]
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</ol>
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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="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Marla J. F. O'Neill - updated : 7/22/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Marla J. F. O'Neill - updated : 3/12/2008<br>Jane Kelly - updated : 11/27/2007<br>Jane Kelly - updated : 10/19/2007
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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="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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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Cassandra L. Kniffin : 7/17/2007
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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 : 03/11/2021
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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alopez : 07/22/2015<br>mcolton : 7/22/2015<br>alopez : 6/15/2015<br>wwang : 1/24/2011<br>carol : 12/19/2008<br>wwang : 3/17/2008<br>terry : 3/12/2008<br>carol : 11/27/2007<br>carol : 10/19/2007<br>carol : 7/27/2007<br>ckniffin : 7/27/2007<br>ckniffin : 7/26/2007
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</span>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300658
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
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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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<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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<h4>
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<span class="mim-font">
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NDP GENE<br />
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NORRIN
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NDP</em></strong>
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</span>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 15228007;
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</span>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: Xp11.3
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Genomic coordinates <span class="small">(GRCh38)</span> : X:43,948,776-43,973,390 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
Xp11.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Exudative vitreoretinopathy 2, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
305390
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked dominant; X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Norrie disease
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
310600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The NDP gene encodes norrin, a secreted cysteine-rich protein that belongs to the cystine knot growth factor family (Meindl et al., 1992). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By positional cloning, Berger et al. (1992) and Chen et al. (1992) isolated a likely candidate gene for the site of mutation in Norrie disease (ND; 310600). The gene was found to be expressed in retina, choroid, and fetal brain by Berger et al. (1992) and in fetal and adult brain by Chen et al. (1992). It was evolutionarily conserved and encoded a predicted protein of 133 amino acids. The genomic equivalent of the cDNA spanned a maximum of 50 kb (Chen et al., 1992) and was partly deleted in several typical Norrie disease patients. </p><p>By studying the number and spacing of cysteine residues, Meindl et al. (1992) detected homologies between the NDP gene product and a C-terminal domain that is common to a group of proteins including mucins. </p><p>Chen et al. (1993) found that expression of the NDP gene is not confined to the eye or to the brain. They found homology with cysteine-rich protein-binding domains of intermediate-early genes implicated in the regulation of cell proliferation. This led them to propose that the NDP molecule likewise may be involved in the pathway that regulates neural cell differentiation and proliferation. </p><p>Meitinger et al. (1993) reported that sequence pattern searches and 3-dimensional modeling suggested that the NDP protein has a tertiary structure similar to that of transforming growth factor-beta (see TGFB1, 190180). The model identified NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiologic role of NDP. </p><p>Berger et al. (1996) cloned the mouse Ndp gene, which encodes a polypeptide that shares 94% sequence identity with the human protein. RNA in situ hybridization revealed expression in retina, brain, and olfactory bulb and epithelium of 2-week-old mice. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Meindl et al. (1992) found that only exons 2 and 3 of the NDP gene are translated. Exon 2 contains the first 58 codons of the open reading frame. The intron that follows it is roughly 14.5 kb. Exon 3 is the largest exon and contains residues 59-133 of the open reading frame and a 917-bp 3-prime untranslated region. </p><p>Chen et al. (1993) determined that the NDP gene spans 28 kb and contains 3 exons, the first of which is entirely contained within the 5-prime untranslated region. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sims et al. (1992) narrowed the mapping of the NDP gene to a 150-kb region on chromosome Xp defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease. They concluded that the order of loci was: pter--DXS7--MAOA--MAOB--NDP--cen. </p><p>Berger et al. (1996) mapped the mouse Ndp gene to the X chromosome. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In studies in COS-7 cells, Perez-Vilar and Hill (1997) found that norrin was present only in cell lysates and the extracellular matrix. Further analysis showed that most of the norrin in the extracellular matrix formed cross-linked disulfide-bonded oligomers that contained up to 20 monomers. </p><p>By in situ hybridization of NDP mRNA, Hartzer et al. (1999) found abundant signals in the outer nuclear, inner nuclear, and ganglion cell layers of the retina in all 3 species (mouse, rabbit, and human) examined. There was no significant expression in the vitreous humor, lens, or rod outer segment. High expression levels were also observed in the cerebellar granular layer, hippocampus, olfactory bulb, cortex, and epithelium of the rabbit brain. These data suggested that the NDP gene could play a critical role in the differentiation or maintenance of the differentiated state of the retina. </p><p>Incomplete retinal vascularization occurs in both Norrie disease and familial exudative vitreoretinopathy (FEVR). One form of FEVR (EVR1; 133780) is caused by defects in frizzled-4 (FZD4; 604579), a presumptive Wnt receptor. Xu et al. (2004) determined that norrin and FZD4 function as a ligand-receptor pair based on the similarity in vascular phenotypes caused by norrin and FZD4 mutations in humans and mice; the specificity and high affinity of norrin-FZD4 binding; the high efficiency with which norrin induces FZD4- and LRP (see 107770)-dependent activation of the classic Wnt pathway; and the signaling defects displayed by disease-associated variants of norrin and FZD4. These data defined a norrin-FZD4 signaling system that plays a central role in vascular development in the eye and ear, and they indicated that ligands unrelated to Wnts can act through frizzled receptors. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Norrie Disease</em></strong></p><p>
|
|
Berger et al. (1992) identified small deletions in the NDP gene in several patients with Norrie disease. In 12 of 17 unrelated patients with Norrie disease, Berger et al. (1992) identified 11 different mutations in the NDP gene (see, e.g., 300658.0001-300658.0002). Most of the mutations were located in exon 3. </p><p>In 3 unrelated patients with Norrie disease, Meindl et al. (1992) identified 3 missense mutations in the NDP gene (300658.0003-300658.0005). All 3 mutations replaced evolutionarily conserved cysteines or created new cysteine codons, emphasizing the functional importance of these sites. These findings and the clinical features of Norrie disease suggested a possible role for the NDP gene in a neuroectodermal cell-cell interaction. </p><p><strong><em>Familial Exudative Vitreoretinopathy</em></strong></p><p>
|
|
Shastry et al. (1997) reported 4 novel missense mutations in the NDP gene associated with 1 X-linked and 4 sporadic cases of familial exudative vitreoretinopathy (EVR2; 305390) (see 300658.0013). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Among 109 patients with pediatric vitreoretinopathies, Wu et al. (2007) identified 11 with a mutation in the NDP gene. They found that NDP mutations disrupting the cysteine-knot motif corresponded to severe retinal dysgenesis and a diagnosis of Norrie disease, whereas patients with noncysteine mutations had varying degrees of avascular peripheral retina, extraretinal vasculature, and subretinal exudate. </p><p>Kondo et al. (2007) screened 62 FEVR and 3 ND Japanese probands and family members for mutations in the NDP gene and identified 5 different mutations (1 splicing and 4 missense) in 4 FEVR patients and 2 ND patients. One proband with a missense mutation in the signal sequence of NDP had significant phenotypic heterogeneity between the affected eyes, indicating a diagnosis of FEVR or ND. Another proband, who had a splicing mutation, exhibited typical features of ND, whereas a maternal nephew was diagnosed with FEVR. In addition, 1 FEVR family with a missense mutation had affected female carriers: the 5-year-old proband's 42-year-old mother and a 13-year-old sister had milder-appearing FEVR, whereas 2 other carrier sisters exhibited only retinal vascular tortuosity. However, in another FEVR family with the same missense mutation, a 39-year-old female carrier had normal fundi bilaterally. Kondo et al. (2007) noted that although ND and FEVR are viewed as distinct diseases, the phenotypic spectrum of each is diverse, and they share multiple common features. </p><p>Using a norrin-based reporter assay to analyze the effects of FEVR-causing mutations, Qin et al. (2008) demonstrated that a nonsense mutation in FZD4 completely abolished signaling activity, whereas missense mutations in FZD4 and LRP5 caused a moderate level of reduction, and a double missense mutation in both genes caused a severe reduction in activity, correlating roughly with clinical phenotypes. Norrin mutants, however, showed variable effects on signal transduction, and no correlation with clinical phenotypes was observed; norrin mutants also showed impaired cell surface binding. Qin et al. (2008) concluded that norrin signaling is involved in FEVR pathogenesis, but suggested the presence of an unknown parallel pathway at the level of receptor/ligand binding as evidenced by the moderate and variable signal reduction lacking a clear genotype/phenotype correlation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Berger et al. (1996) used gene targeting technology to generate Ndp mutant mice. Hemizygous mice carrying a replacement mutation in exon 2 of the Ndp gene developed retrolental structures in the vitreous body and showed an overall disorganization of the retinal ganglion cell layer. The outer plexiform layer disappeared occasionally, resulting in a juxtaposed inner and outer nuclear layer. The ocular findings were consistent with observations in patients with Norrie disease. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>21 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, ARG90PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894867,
|
|
|
|
|
|
gnomAD: rs104894867,
|
|
|
|
|
|
ClinVar: RCV000011425, RCV001545665
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Norrie disease (310600), Berger et al. (1992) identified a 685G-C transversion in exon 3 of the NDP gene, resulting in an arg90-to-pro (R90P) substitution. The patient had no hearing impairment or mental disturbances, but had a family history of the disorder. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, SER75CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894868,
|
|
|
|
|
|
|
|
ClinVar: RCV000011426, RCV003313916
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Norrie disease (310600), Berger et al. (1992) identified a 640C-G transversion in exon 3 of the NDP gene, resulting in a ser75-to-cys (S75C) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, VAL60GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894869,
|
|
|
|
|
|
|
|
ClinVar: RCV000011427
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Norrie disease (310600), Meindl et al. (1992) identified a 595T-A in the NDP gene, resulting in a val60-to-glu (V60E) substitution, inherited from the mother. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, TYR44CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894870,
|
|
|
|
|
|
|
|
ClinVar: RCV000011428, RCV001857330
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Norrie disease (310600), Meindl et al. (1992) identified a 547A-G transition in the NDP gene, resulting in a tyr44-to-cys (Y44C) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, CYS96TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894871,
|
|
|
|
|
|
|
|
ClinVar: RCV000011429
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Norrie disease (310600), Meindl et al. (1992) identified a 703G-A transition in the NDP gene, resulting in a cys96-to-tyr (C96Y) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, LEU124PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28933684,
|
|
|
|
|
|
gnomAD: rs28933684,
|
|
|
|
|
|
ClinVar: RCV000011430, RCV001851794
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked exudative vitreoretinopathy (EVR2; 305390) manifested by members of 4 generations (Dudgeon, 1979) and found to have possible linkage to markers in the region of the Norrie disease locus (Fullwood et al., 1993), Chen et al. (1993) demonstrated a C-to-T transition in the NDP gene, resulting in a leu124-to-phe (L124F) substitution in the highly conserved region of the NDP gene. The mutation was absent in unaffected family members and in normal controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, CYS69SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894872,
|
|
|
|
|
|
|
|
ClinVar: RCV000011431
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with a manifesting female carrier of Norrie disease (310600), Chen et al. (1993) identified a 614G-C transversion in the NDP gene, resulting in a cys69-to-ser (C69S) substitution. The carrier female had been noted to have severely impaired vision at age 2. Examination revealed a cataract in the right eye and total retinal detachment with a vascularized mass behind the lens. In the left eye, a retinal fold and traction retinal detachment in the temporal periphery were evident. The child was otherwise normal. Her carrier mother was normal. Two of the mother's brothers had Norrie disease. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, CYS128TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894873,
|
|
|
|
|
|
gnomAD: rs104894873,
|
|
|
|
|
|
ClinVar: RCV000011432, RCV000418772
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Norrie disease (310600), Wong et al. (1993) identified a dinucleotide GC-to-AA change in the NDP gene, resulting in a cys128-to-ter (C128X) substitution. The mutant protein lacked the last 6 amino acids of the carboxyl terminus. Wong et al. (1993) pointed out that the NDP protein normally has 11 cysteines, that the codon 128 mutation involved the tenth cysteine, and that most reported mutations have involved this amino acid residue. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, MET1VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28933685,
|
|
|
|
|
|
|
|
ClinVar: RCV000011433, RCV001857331
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Japanese males with Norrie disease (310600) from apparently unrelated families, Isashiki et al. (1995) identified an A-to-G transition at the initiation codon of exon 2 of the NDP gene, resulting in a met1-to-val (M1V) substitution. Both mothers were heterozygous for the mutation. Neither patient showed mental retardation or hearing impairment. Although the 2 families had lived in the same prefecture in southwestern Japan for at least 2 centuries, no relationship between the 2 families could be identified. All previously identified mutations had occurred in single families, indicating a marked heterogeneity of mutations. The finding of the same mutation in 2 apparently unrelated families, taken with the rarity of the disease, suggested that they shared a common ancestor. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, ARG121TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894878,
|
|
|
|
|
|
|
|
ClinVar: RCV000011434, RCV000484893, RCV003334376, RCV004814881
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 29-year-old male patient with X-linked exudative vitreoretinopathy (EVR2; 305390), Fuchs et al. (1995) found an arg121-to-trp (R121W) mutation in the NDP gene. Low visual acuity had been noted since birth. When the patient was 3 years old, the right eye was enucleated because an intraocular tumor was suspected. Histologic examination showed severe intraocular inflammation without malignancy. Visual acuity in the left eye remained unchanged until adulthood. The retina showed severe temporal dragging of the vessels, including the macula. Severely reduced visual acuity was known in several maternal male relatives; the mother and maternal grandmother had normal visual acuity. </p><p>Shastry et al. (1995) identified the same mutation in affected members in 3 generations of a family segregating X-linked exudative vitreoretinopathy. </p><p>Shastry (1998) identified the R121W mutation in a 'simplex' case of exudative vitreoretinopathy. </p><p>A different substitution at the same codon (R121L) has been described (300658.0017).</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, LEU13ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894879,
|
|
|
|
|
|
|
|
ClinVar: RCV000011435
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Cuban kindred with Norrie disease (310600), Fuchs et al. (1994) identified a 454T-G transversion in the NDP gene, resulting in a leu13-to-arg (L13R) substitution. The nucleotide substitution creates a new HhaI restriction site. This mutation was identified in a large Cuban pedigree which consisted of 380 members, 46 of whom were affected. The disorder showed a typical pattern of X-linked inheritance over 7 generations. Eighteen patients examined shared similar clinical features. Pseudoglioma was always present in both eyes, frequently with phthisis bulbi, enophthalmos, opaque cornea, and cataract. In addition, about 45% of the patients showed moderate or severe mental retardation. Hearing loss was recognized in 78% of the patients, with different ages of onset. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, LEU61PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894880,
|
|
|
|
|
|
|
|
ClinVar: RCV000011436, RCV004814882, RCV005089227
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Rehm et al. (1997) identified a large Costa Rican kindred in which 15 males were afflicted with congenital blindness, progressive hearing loss, and venous insufficiency. Because of an X-linked pattern of inheritance and the ophthalmologic and otologic findings, including bilateral retinal dysplasia and detachment and progressive bilateral sensorineural hearing loss, a tentative diagnosis of Norrie disease (310600) was considered. However, venous insufficiency was a clinical finding apparently not previously recognized in association with Norrie disease. Linkage analysis using microsatellite repeat markers demonstrated linkage to the Norrie disease region and studies of the NDP gene showed a point mutation in the third exon resulting in an leu61-to-phe (L61F) substitution. No obligate carrier females had any ocular or relevant pathology, but all affected males had varicose veins with peripheral venous stasis ulcers. Phlebography and other radiologic examinations showed deep venous system insufficiency and moderate dilatation of veins. Transfemoral arteriography showed patency of the femoral and distal arterial system. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 EXUDATIVE VITREORETINOPATHY, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, HIS42ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894874,
|
|
|
|
|
|
gnomAD: rs104894874,
|
|
|
|
|
|
ClinVar: RCV000011437, RCV000520034, RCV004585995, RCV005049330
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Shastry et al. (1997) found an H42R mutation of the NDP gene segregating with exudative vitreoretinopathy (305390) in 3 generations of a family. They also identified mutations in the NDP gene in 4 sporadic cases of FEVR. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, 1-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2147209204,
|
|
|
|
|
|
|
|
ClinVar: RCV000011438
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with Norrie disease (310600), Chynn et al. (1996) identified a 1-bp deletion in codon 35 of the NDP gene. The deletion changed the amino acids encoded by codons 35 through 39 and resulted in a premature stop at codon 40. The unaffected mother was heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, ALA105THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894875,
|
|
|
|
|
|
gnomAD: rs104894875,
|
|
|
|
|
|
ClinVar: RCV000011439
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian family in which 5 males in 4 generations had characteristic ophthalmologic findings of Norrie disease (310600), Torrente et al. (1997) identified an ala105-to-thr (A105T) missense mutation in the NDP gene. Affected individuals had no mental retardation or hearing abnormality. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, CYS110GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894876,
|
|
|
|
|
|
|
|
ClinVar: RCV000011440
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian family with exudative vitreoretinopathy (EVR2; 305390) in an X-linked pedigree pattern, Torrente et al. (1997) demonstrated a cys110-to-gly (C110G) mutation in the NDP gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 EXUDATIVE VITREORETINOPATHY 2, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, ARG121LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852220,
|
|
|
|
|
|
|
|
ClinVar: RCV000011441
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large kindred with X-linked recessive exudative vitreoretinopathy (EVR2; 305390), Johnson et al. (1996) identified an arg121-to-leu (R121L) mutation in the NDP gene. The clinical phenotype and rate of disease progression were extremely variable, with progression to total retinal detachment occurring before the age of 2 years in some and later than 21 years in others. Johnson et al. (1996) pointed out that all mutations identified in X-linked vitreoretinopathy have been missense mutations, presumably not affecting the 3-dimensional structure of the NDP gene product. Note that the same codon is involved in the arg121-to-trp mutation (300658.0010). Johnson et al. (1996) suggested that the mutations causing X-linked vitreoretinopathy cluster around residues 121-126, but this is not entirely true, as indicated by the cys110-to-gly mutation (300658.0016) and the his42-to-arg mutation (300658.0013). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, CYS96TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894877,
|
|
|
|
|
|
|
|
ClinVar: RCV000011442
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Black et al. (1999) reported a woman with a unilateral variant of Coats disease (300216) who gave birth to a son affected by Norrie disease (310600). Both carried a 704C-G transversion in the NDP gene, resulting in a cys96-to-trp (C96W) substitution. Subsequent analysis of the retinas of 9 enucleated eyes from males with Coats disease demonstrated a somatic C96W mutation in the NDP gene in 1 that was not present in nonretinal tissue. Black et al. (1999) suggested that Coats telangiectasis is secondary to somatic mutation in the NDP gene, which results in a deficiency of norrin within the developing retina. This supported observations that the protein is critical for normal retinal vasculogenesis. The authors noted that a cys96-to-tyr substitution (300658.0005) had previously been described. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, VAL45GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852221,
|
|
|
|
|
|
|
|
ClinVar: RCV000011443
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with Norrie disease (310600), Lev et al. (2007) identified a 134T-A transversion in the NDP gene, resulting in a val45-to-glu (V45E) substitution. He had profound mental retardation and myoclonic seizures with hypsarrhythmia on EEG. His asymptomatic mother was heterozygous for the mutation. Bioinformatic analysis indicated that V45E lies within an extracellular localization motif and may alter the distribution pattern of norrin, which in turn may alter norrin-mediated cell-cell communication. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 NORRIE DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NDP, SER73TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894882,
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ClinVar: RCV000011444
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected male members of a family with Norrie disease (310600), Walker et al. (1997) identified a 626C-A transversion in exon 3 of the NDP gene, resulting in a ser73-to-ter (S73X) substitution. Affected members had a severe ocular phenotype, but no mental retardation or deafness. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0021 NORRIE DISEASE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NDP, SER101PHE
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<br />
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SNP: rs104894883,
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ClinVar: RCV000011445
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected male members of a family with Norrie disease (310600), Walker et al. (1997) identified a 710C-T transition in exon 3 of the NDP gene, resulting in a ser101-to-phe (S101F) substitution. Affected members had a less severe ocular phenotype compared to other patients with Norrie disease and no mental retardation or deafness. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
|
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Bergen et al. (1993); Bleeker-Wagemakers et al. (1985); Chen et al.
|
|
(1992); Harmon et al. (1993); Hattori et al. (1991); Isashiki et al.
|
|
(1995); Meindl et al. (1995); Schuback et al. (1995)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Bergen, A. A. B., Wapenaar, M. C., Schuurman, E. J. M., Diergaarde, P. J., Lerach, H., Monaco, A. P., Bakker, E., Bleeker-Wagemakers, E. M., van Ommen, G. J. B.
|
|
<strong>Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.</strong>
|
|
Cytogenet. Cell Genet. 62: 231-235, 1993.
|
|
|
|
|
|
[PubMed: 8440142]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000133484]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T.
|
|
<strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong>
|
|
Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.
|
|
|
|
|
|
[PubMed: 1303235]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0692-199]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berger, W., van de Pol, D., Bachner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W., Ropers, H.-H.
|
|
<strong>An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.</strong>
|
|
Hum. Molec. Genet. 5: 51-59, 1996.
|
|
|
|
|
|
[PubMed: 8789439]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.1.51]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H.
|
|
<strong>Mutations in the candidate gene for Norrie disease.</strong>
|
|
Hum. Molec. Genet. 1: 461-465, 1992.
|
|
|
|
|
|
[PubMed: 1307245]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/1.7.461]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., McLeod, D.
|
|
<strong>Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.</strong>
|
|
Hum. Molec. Genet. 8: 2031-2035, 1999.
|
|
|
|
|
|
[PubMed: 10484772]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/8.11.2031]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bleeker-Wagemakers, L. M., Friedrich, U., Gal, A., Wienker, T. F., Warburg, M., Ropers, H.-H.
|
|
<strong>Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.</strong>
|
|
Hum. Genet. 71: 211-214, 1985.
|
|
|
|
|
|
[PubMed: 2998969]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00284575]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W.
|
|
<strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong>
|
|
Nature Genet. 5: 180-183, 1993.
|
|
|
|
|
|
[PubMed: 8252044]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1093-180]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Battinelli, E. M., Hendriks, R. W., Powell, J. F., Middleton-Price, H., Sims, K. B., Breakefield, X. O., Craig, I. W.
|
|
<strong>Norrie disease gene: characterization of deletions and possible function.</strong>
|
|
Genomics 16: 533-535, 1993.
|
|
|
|
|
|
[PubMed: 8314592]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1993.1224]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Battinelli, E. M., Woodruff, G., Young, I., Breakefield, X. O., Craig, I. W.
|
|
<strong>Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.</strong>
|
|
Hum. Molec. Genet. 2: 1727-1729, 1993.
|
|
|
|
|
|
[PubMed: 8268931]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.10.1727]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Hendriks, R. W., Jobling, M. A., Powell, J. F., Breakefield, X. O., Sims, K. B., Craig, I. W.
|
|
<strong>Isolation and characterization of a candidate gene for Norrie disease.</strong>
|
|
Nature Genet. 1: 204-208, 1992.
|
|
|
|
|
|
[PubMed: 1303236]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0692-204]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Sims, K. B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X. O., Davies, K. E., Craig, I. W.
|
|
<strong>Characterization of a YAC containing part or all of the Norrie disease locus.</strong>
|
|
Hum. Molec. Genet. 1: 161-164, 1992.
|
|
|
|
|
|
[PubMed: 1303171]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/1.3.161]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chynn, E. W., Walton, D. S., Hahn, L. B., Dryja, T. P.
|
|
<strong>Norrie disease: diagnosis of a simplex case by DNA analysis.</strong>
|
|
Arch. Ophthal. 114: 1136-1138, 1996.
|
|
|
|
|
|
[PubMed: 8790105]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1996.01100140338018]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dudgeon, J.
|
|
<strong>Familial exudative vitreo-retinopathy.</strong>
|
|
Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.
|
|
|
|
|
|
[PubMed: 95062]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fuchs, S., Kellner, U., Wedemann, H., Gal, A.
|
|
<strong>Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked exudative vitreoretinopathy.</strong>
|
|
Hum. Mutat. 6: 257-259, 1995.
|
|
|
|
|
|
[PubMed: 8535448]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380060312]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fuchs, S., Xu, S. Y., Caballero, M., Salcedo, M., La O, A., Wedemann, H., Gal, A.
|
|
<strong>A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.</strong>
|
|
Hum. Molec. Genet. 3: 655-656, 1994.
|
|
|
|
|
|
[PubMed: 8069314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.4.655]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W.
|
|
<strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong>
|
|
Brit. J. Ophthal. 77: 168-170, 1993.
|
|
|
|
|
|
[PubMed: 8457509]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bjo.77.3.168]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harmon, D. L., Gardner-Medwin, D., Stirling, J. L.
|
|
<strong>Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.</strong>
|
|
J. Med. Genet. 30: 123-128, 1993.
|
|
|
|
|
|
[PubMed: 8445615]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.30.2.123]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartzer, M. K., Cheng, M., Liu, X., Shastry, B. S.
|
|
<strong>Localization of the Norrie disease gene mRNA by in situ hybridization.</strong>
|
|
Brain Res. Bull. 49: 355-358, 1999.
|
|
|
|
|
|
[PubMed: 10452356]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0361-9230(99)00071-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hattori, Y., Yamashiro, Y., Ohba, Y., Miyaji, T., Morishita, M., Yamamoto, K., Yamamoto, K., Narai, S., Kimura, A.
|
|
<strong>A new beta-thalassemia mutation (initiation codon ATG-to-GTG) found in the Japanese population.</strong>
|
|
Hemoglobin 15: 317-325, 1991.
|
|
|
|
|
|
[PubMed: 1686262]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/03630269109027886]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., Kuroda, N.
|
|
<strong>Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.</strong>
|
|
Hum. Genet. 95: 105-108, 1995.
|
|
|
|
|
|
[PubMed: 7814011]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00225085]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., Tanabe, U.
|
|
<strong>Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter)</strong>
|
|
Brit. J. Ophthal. 79: 703-708, 1995.
|
|
|
|
|
|
[PubMed: 7662640]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bjo.79.7.703]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Johnson, K., Mintz-Hittner, H. A., Conley, Y. P., Ferrell, R. E.
|
|
<strong>X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.</strong>
|
|
Clin. Genet. 50: 113-115, 1996.
|
|
|
|
|
|
[PubMed: 8946107]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb02363.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K.
|
|
<strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.
|
|
|
|
|
|
[PubMed: 17325173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.06-1042]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lev, D., Weigl, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T., Watemberg, N.
|
|
<strong>A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.</strong>
|
|
Am. J. Med. Genet. 143A: 921-924, 2007.
|
|
|
|
|
|
[PubMed: 17334993]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31531]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H.
|
|
<strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong>
|
|
Nature Genet. 2: 139-143, 1992.
|
|
|
|
|
|
[PubMed: 1303264]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1092-139]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., Meitinger, T.
|
|
<strong>Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.</strong>
|
|
Hum. Molec. Genet. 4: 489-490, 1995.
|
|
|
|
|
|
[PubMed: 7795608]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.3.489]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M., Murken, J.
|
|
<strong>Molecular modeling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.</strong>
|
|
Nature Genet. 5: 376-380, 1993.
|
|
|
|
|
|
[PubMed: 8298646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1293-376]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Perez-Vilar, J., Hill, R. L.
|
|
<strong>Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.</strong>
|
|
J. Biol. Chem. 272: 33410-33415, 1997.
|
|
|
|
|
|
[PubMed: 9407136]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.272.52.33410]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Qin, M., Kondo, H., Tahira, T., Hayashi, K.
|
|
<strong>Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.</strong>
|
|
Hum. Genet. 122: 615-623, 2008.
|
|
|
|
|
|
[PubMed: 17955262]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-007-0438-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rehm, H. L., Gutierrez-Espeleta, G. A., Garcia, R., Jimenez, G., Khetarpal, U., Priest, J. M., Sims, K. B., Keats, B. J. B., Morton, C. C.
|
|
<strong>Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.</strong>
|
|
Hum. Mutat. 9: 402-408, 1997.
|
|
|
|
|
|
[PubMed: 9143918]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schuback, D. E., Chen, Z. Y., Craig, I. W., Breakefield, X. O., Sims, K. B.
|
|
<strong>Mutations in the Norrie disease gene.</strong>
|
|
Hum. Mutat. 5: 285-292, 1995.
|
|
|
|
|
|
[PubMed: 7627181]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380050403]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shastry, B. S., Hejtmancik, J. F., Plager, D. A., Hartzer, M. K., Trese, M. T.
|
|
<strong>Linkage and candidate gene analysis in X-linked familial exudative vitreoretinopathy.</strong>
|
|
Genomics 27: 341-344, 1995.
|
|
|
|
|
|
[PubMed: 7558002]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1995.1052]
|
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|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Shastry, B. S., Hejtmancik, J. F., Trese, M. T.
|
|
<strong>Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.</strong>
|
|
Hum. Mutat. 9: 396-401, 1997.
|
|
|
|
|
|
[PubMed: 9143917]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2]
|
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|
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|
|
|
|
<li>
|
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<p class="mim-text-font">
|
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Shastry, B. S.
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<strong>Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 246: 35-38, 1998.
|
|
|
|
|
|
[PubMed: 9618247]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1998.8565]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Sims, K. B., Lebo, R. V., Benson, G., Shalish, C., Schuback, D., Chen, Z. Y., Bruns, G., Craig, I. W., Golbus, M. S., Breakefield, X. O.
|
|
<strong>The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.</strong>
|
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Hum. Molec. Genet. 1: 83-89, 1992.
|
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|
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[PubMed: 1301161]
|
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|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/1.2.83]
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|
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</li>
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|
|
<li>
|
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|
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Torrente, I., Mangino, M., Gennarelli, M., Novelli, G., Giannotti, A., Vadala, P., Dallapiccola, B.
|
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<strong>Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. (Letter)</strong>
|
|
Am. J. Med. Genet. 72: 242-244, 1997.
|
|
|
|
|
|
[PubMed: 9382152]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m]
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Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W.
|
|
<strong>Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.</strong>
|
|
Hum. Mutat. 9: 53-56, 1997.
|
|
|
|
|
|
[PubMed: 8990009]
|
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|
|
|
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q]
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</li>
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<li>
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Wong, F., Goldberg, M. F., Hao, Y.
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<strong>Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.</strong>
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Arch. Ophthal. 111: 1553-1557, 1993.
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[PubMed: 8240113]
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[Full Text: https://doi.org/10.1001/archopht.1993.01090110119036]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
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Wu, W.-C., Drenser, K., Trese, M., Capone, A., Jr., Dailey, W.
|
|
<strong>Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.</strong>
|
|
Arch. Ophthal. 125: 225-230, 2007.
|
|
|
|
|
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[PubMed: 17296899]
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[Full Text: https://doi.org/10.1001/archopht.125.2.225]
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Xu, Q., Wang, Y., Dabdoub, A., Smallwood, P. M., Williams, J., Woods, C., Kelley, M. W., Jiang, L., Tasman, W., Zhang, K., Nathans, J.
|
|
<strong>Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.</strong>
|
|
Cell 116: 883-895, 2004.
|
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[PubMed: 15035989]
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[Full Text: https://doi.org/10.1016/s0092-8674(04)00216-8]
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