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Entry
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- #267430 - RENAL TUBULAR DYSGENESIS; RTD
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- OMIM
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<span class="h4">#267430</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/267430"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(RENAL TUBULAR DYSGENESIS) OR (AGTR1 OR AGT OR REN OR ACE)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2726&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Renal tubular dysgenesis </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12920&Typ=Pat" title="Renal tubular dysgenesis of genetic origin" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Renal tubular dysgenesis o… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9216" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis" 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=267430[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Renal tubular dysgenesis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97369" title="Renal tubular dysgenesis of genetic origin" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Renal tubular dysgenesis o…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/246199d5-e363-4336-b159-a3e53a1a5bcf/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702397002<br />
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<strong>ORPHA:</strong> 3033, 97369<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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267430
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</span>
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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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RENAL TUBULAR DYSGENESIS; RTD
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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PRIMITIVE RENAL TUBULE SYNDROME
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</h4>
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<div>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED
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</span>
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1606?start=-3&limit=10&highlight=1606">
|
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1q32.1
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</a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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Renal tubular dysgenesis
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/267430"> 267430 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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REN
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</span>
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<span class="mim-font">
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<a href="/entry/179820"> 179820 </a>
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</span>
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</td>
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</tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1794?start=-3&limit=10&highlight=1794">
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1q42.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Renal tubular dysgenesis
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/267430"> 267430 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
AGT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/106150"> 106150 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/760?start=-3&limit=10&highlight=760">
|
|
3q24
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Renal tubular dysgenesis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/267430"> 267430 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
AGTR1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/106165"> 106165 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/834?start=-3&limit=10&highlight=834">
|
|
17q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Renal tubular dysgenesis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/267430"> 267430 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ACE
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/106180"> 106180 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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|
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/267430" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/267430" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/267430" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Potter facies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24814002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24814002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266619</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002009</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotension, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678378</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45007003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45007003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/458.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002615</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pulmonary hypoplasia secondary to oligohydramnios <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678376</a>]</span><br /> -
|
|
Neonatal respiratory failure due to pulmonary hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678377</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95619009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95619009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P28.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P28.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/770.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">770.84</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal tubular dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702397002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702397002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266313</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008660</a>]</span><br /> -
|
|
Kidney biopsy shows absence of differentiated proximal tubules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678368&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678368</a>]</span><br /> -
|
|
Primitive renal tubules may exist <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678369</a>]</span><br /> -
|
|
Thickening of renal arterial walls <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678370</a>]</span><br /> -
|
|
Anuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2472002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2472002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2188545&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2188545</a>, <a href="https://bioportal.bioontology.org/search?q=C0003460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100519</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Skull </em>
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- Hypoplasia of the membranous bones of the skull <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678373&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678373</a>]</span><br /> -
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Underdeveloped membranous cranial bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678374</a>]</span><br /> -
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Calvaria hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678375</a>]</span><br /> -
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Wide cranial sutures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268855009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268855009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010537</a>]</span><br /> -
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Large fontanelles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276709006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276709006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000239</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> PRENATAL MANIFESTATIONS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Amniotic Fluid </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Oligohydramnios, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678371</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59566000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59566000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/658.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">658.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span><br /> -
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Fetal anuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678372</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Affected infants often die in utero or in the postnatal period<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the renin gene (REN, <a href="/entry/179820#0002">179820.0002</a>)<br /> -
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Caused by mutation in the angiotensinogen gene (AGT, <a href="/entry/106150#0003">106150.0003</a>)<br /> -
|
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Caused by mutation in the angiotensin-converting enzyme gene (ACE, <a href="/entry/106180#0003">106180.0003</a>)<br /> -
|
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Caused by mutation in the angiotensin II receptor type 1 gene (AGTR1, <a href="/entry/106165#0003">106165.0003</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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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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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because renal tubular dysgenesis is caused by homozygous or compound heterozygous mutation in genes encoding components of the renin-angiotensin system: renin (<a href="/entry/179820">179820</a>) on chromosome 1q32, angiotensinogen (<a href="/entry/106150">106150</a>) on chromosome 1q42, angiotensin-converting enzyme (<a href="/entry/106180">106180</a>) on chromosome 17q23, or angiotensin II receptor type 1 (<a href="/entry/106165">106165</a>) on chromosome 3q24.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (<a href="#5" class="mim-tip-reference" title="Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M. C. <strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong> Nature Genet. 37: 964-968, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>] [<a href="https://doi.org/10.1038/ng1623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116425">Gribouval et al., 2005</a>). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116425" 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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</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Allanson, J. E., Pantzar, J. T., MacLeod, P. M. <strong>Possible new autosomal recessive syndrome with unusual renal histopathological changes.</strong> Am. J. Med. Genet. 16: 57-60, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6638071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6638071</a>] [<a href="https://doi.org/10.1002/ajmg.1320160110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6638071">Allanson et al. (1983)</a> described 2 stillborn females born consecutively of a nonconsanguineous Chinese couple. Both had the Potter syndrome resulting from oligohydramnios and showed a seemingly unique histologic change in the kidneys. Normal proximal convoluted tubules were absent and all tubules appeared abnormally developed, primitive and reminiscent of collecting tubules. The father had suffered from 'minimal change' glomerulonephritis. <a href="#13" class="mim-tip-reference" title="Swinford, A. E., Bernstein, J., Higgins, J. V., Pradhan, S. <strong>Confirmation of an autosomal recessive renal syndrome characterized by primitive renal tubules. (Abstract)</strong> Am. J. Hum. Genet. 39: A83 only, 1986."None>Swinford et al. (1986)</a> described a second nonconsanguineous family of northern European and American descent in which 2 males and 1 female died with oligohydramnios sequence and pulmonary hypoplasia. The renal tissue in these children demonstrated abnormally developed, primitive renal tubules and interstitial fibrous connective tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6638071" 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="#12" class="mim-tip-reference" title="Schwartz, B. R., Lage, J. M., Pober, B. R., Driscoll, S. G. <strong>Isolated congenital renal tubular immaturity in siblings.</strong> Hum. Path. 17: 1259-1263, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3539761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3539761</a>] [<a href="https://doi.org/10.1016/s0046-8177(86)80570-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3539761">Schwartz et al. (1986)</a> described male and female sibs with congenital renal tubular immaturity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3539761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="MacMahon, P., Blackie, R. A. S., House, M. J., Risdon, R. A., Crawfurd, M. d'A. <strong>A further family with congenital renal proximal tubular dysgenesis.</strong> J. Med. Genet. 27: 395-398, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359105</a>] [<a href="https://doi.org/10.1136/jmg.27.6.395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2359105">MacMahon et al. (1990)</a> reported a typical case in an infant born of unrelated parents and reviewed 12 previous cases distributed in 5 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Russo, R., D'Armiento, M., Vecchione, R. <strong>Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.</strong> Am. J. Med. Genet. 39: 482-485, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877630</a>] [<a href="https://doi.org/10.1002/ajmg.1320390423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1877630">Russo et al. (1991)</a> reported an infant with this disorder who survived for 15 days after birth. The infant also had acrocephalosyndactyly of the Saethre-Chotzen type (<a href="/entry/101400">101400</a>), which was present in other members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1877630" 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="#1" class="mim-tip-reference" title="Allanson, J. E., Hunter, A. G. W., Mettler, G. S., Jimenez, C. <strong>Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.</strong> Am. J. Med. Genet. 43: 811-814, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642268</a>] [<a href="https://doi.org/10.1002/ajmg.1320430512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642268">Allanson et al. (1992)</a> reported an additional 9 cases from one pediatric center. Early prenatal diagnosis may be difficult because amniotic fluid volumes have been shown to be normal in affected pregnancies before 22 weeks' gestation. Late second trimester sonographic demonstration of oligohydramnios, with structurally normal kidneys, should suggest the diagnosis and the need for detailed postmortem pathologic examination for this disorder, which may not be as rare as was previously thought. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642268" 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="Ariel, I., Wells, T. R., Landing, B. H., Sagi, M., Bar-Oz, B., Ron, N., Rosenmann, E. <strong>Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules.</strong> Pediat. Path. Lab. Med. 15: 915-922, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8705201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8705201</a>] [<a href="https://doi.org/10.3109/15513819509027027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8705201">Ariel et al. (1995)</a> described a family in which consanguineous Palestinian Muslim Arab parents had 3 affected children. Microdissection of the nephrons in a male infant who died 30 hours after birth showed marked hypoplasia of all segments of the nephron, from the glomerulus to the collecting tubule. The authors suggested that hypoplasia of the distal parts of nephron, as well as the proximal convoluted tubule, is characteristic for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8705201" 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="#10" class="mim-tip-reference" title="McFadden, D. E., Pantzar, J. T., Van Allen, M. I., Langlois, S. <strong>Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.</strong> J. Med. Genet. 34: 846-848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350819</a>] [<a href="https://doi.org/10.1136/jmg.34.10.846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9350819">McFadden et al. (1997)</a> reported 2 cases of renal tubular dysgenesis, both of whom had calvarial hypoplasia. They noted that 6 of the 24 cases reported by <a href="#1" class="mim-tip-reference" title="Allanson, J. E., Hunter, A. G. W., Mettler, G. S., Jimenez, C. <strong>Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.</strong> Am. J. Med. Genet. 43: 811-814, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642268</a>] [<a href="https://doi.org/10.1002/ajmg.1320430512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642268">Allanson et al. (1992)</a> had associated microcephaly, underdeveloped cranial bones, or widely patent fontanels, and that a number of other reported cases had skull abnormalities. <a href="#10" class="mim-tip-reference" title="McFadden, D. E., Pantzar, J. T., Van Allen, M. I., Langlois, S. <strong>Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.</strong> J. Med. Genet. 34: 846-848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350819</a>] [<a href="https://doi.org/10.1136/jmg.34.10.846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9350819">McFadden et al. (1997)</a> suggested that skull abnormalities are a common component of the inherited form of renal tubular dysgenesis, as they are in the acquired form of renal tubular dysgenesis associated with maternal use of angiotensin-converting enzyme (ACE; <a href="/entry/106180">106180</a>) inhibitors. <a href="#10" class="mim-tip-reference" title="McFadden, D. E., Pantzar, J. T., Van Allen, M. I., Langlois, S. <strong>Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.</strong> J. Med. Genet. 34: 846-848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350819</a>] [<a href="https://doi.org/10.1136/jmg.34.10.846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9350819">McFadden et al. (1997)</a> concluded that skull abnormalities may be important in suggesting the diagnosis of renal tubular dysgenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9350819+1642268" 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="#14" class="mim-tip-reference" title="Uematsu, M., Sakamoto, O., Nishio, T., Ohura, T., Matsuda, T., Inagaki, T., Abe, T., Okamura, K., Kondo, Y., Tsuchiya, S. <strong>A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.</strong> Am. J. Med. Genet. 140A: 2355-2360, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036344</a>] [<a href="https://doi.org/10.1002/ajmg.a.31448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036344">Uematsu et al. (2006)</a> reported a Japanese female infant with renal tubular dysgenesis. The patient was born at 35 weeks gestation with Potter syndrome, hypoplastic lungs, and severe hypotension. Treatment with fresh frozen plasma and peritoneal dialysis resulted in clinical improvement and she had spontaneous urination at day 29. Endocrine studies showed a discrepancy between low plasma renin activity and high active renin concentrations, suggesting a negative feedback loop response in the renin-angiotensin system. At age 18 months, she had no obvious motor or mental retardation. An older brother with similar features had died a few days after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17036344" 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>Renal Tubular Dysgenesis with Choanal Atresia and Athelia</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Hisama, F. M., Reyes-Mugica, M., Wargowski, D. S., Thompson, K. J., Mahoney, M. J. <strong>Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.</strong> Am. J. Med. Genet. 80: 335-342, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856560</a>]" pmid="9856560">Hisama et al. (1998)</a> reported a lethal syndrome in 3 brothers which was characterized particularly by renal tubular dysgenesis and absent nipples (athelia). All 3 infants died neonatally and each had other malformations including preauricular pits and a preauricular tag, branchial clefts, choanal atresia, pulmonary lobation anomaly, ventricular septal defect, type IIB interrupted aortic arch, absent gallbladder, absent thymus, parathyroid gland, accessory spleen, imperforate anus, clinodactyly, and broad digits and small nails. One had a marker chromosome which appeared to be mainly Y heterochromatin and was probably unrelated to the syndrome because it was absent in the other 2 patients. X-linked recessive inheritance was possible; however, there were 4 healthy maternal uncles. Autosomal dominant inheritance with gonadal mosaicism also could not be excluded. Furthermore, a subtle chromosomal abnormality leading to contiguous gene effects could not be ruled out. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856560" 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="Horvath, G. A., Armstrong, L. <strong>Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.</strong> Am. J. Hum. Genet. 143A: 1231-1235, 2007."None>Horvath and Armstrong (2007)</a> described a female infant, born to a nonconsanguineous couple who had 2 previous miscarriages, who appeared to share a syndrome with the 3 brothers reported by <a href="#7" class="mim-tip-reference" title="Hisama, F. M., Reyes-Mugica, M., Wargowski, D. S., Thompson, K. J., Mahoney, M. J. <strong>Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.</strong> Am. J. Med. Genet. 80: 335-342, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856560</a>]" pmid="9856560">Hisama et al. (1998)</a>. Her renal function was initially impaired, but improved over the first weeks of life, although there was persistent renal magnesium wasting. Her craniofacial appearance with infraorbital creases and low-set, dysplastic ears was similar to that described by <a href="#7" class="mim-tip-reference" title="Hisama, F. M., Reyes-Mugica, M., Wargowski, D. S., Thompson, K. J., Mahoney, M. J. <strong>Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.</strong> Am. J. Med. Genet. 80: 335-342, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856560</a>]" pmid="9856560">Hisama et al. (1998)</a>; she also had choanal atresia, gingival cysts, a preauricular pit, athelia, right aortic arch with a vascular ring, broad digits with small nails, impaired glucose homeostasis, hypoadrenalism, neurologic impairment, and brain calcifications and periventricular leukomalacia on CT scan. She died at 13 weeks due to progressive central respiratory failure. There was a family history of neck cysts, renal failure, and adult-onset nasal passage problems. <a href="#8" class="mim-tip-reference" title="Horvath, G. A., Armstrong, L. <strong>Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.</strong> Am. J. Hum. Genet. 143A: 1231-1235, 2007."None>Horvath and Armstrong (2007)</a> considered the 4 salient features of this apparent syndrome to be choanal atresia/stenosis, athelia, renal tubular dysfunction, and family and/or personal history of neck cysts or branchial clefts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856560" 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="#5" class="mim-tip-reference" title="Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M. C. <strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong> Nature Genet. 37: 964-968, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>] [<a href="https://doi.org/10.1038/ng1623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116425">Gribouval et al. (2005)</a> studied 11 individuals with renal tubular dysgenesis (RTD) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding renin (REN; <a href="/entry/179820#0002">179820.0002</a>), angiotensinogen (AGT; <a href="/entry/106150#0003">106150.0003</a>), angiotensin-converting enzyme (ACE; <a href="/entry/106180#0003">106180.0003</a>), or angiotensin II receptor type 1 (AGTR1; <a href="/entry/106165#0003">106165.0003</a>). They proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This appeared to be the first identification of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. Hypoperfusion of the fetal kidneys had been suggested as the mechanism of RTD by findings in the twin-twin transfusion syndrome in monochorionic twin gestations (in which the donor fetus may develop RTD), major cardiac malformations, and severe liver diseases. RTD with large fontanels has also been observed in fetuses exposed in utero to ACE inhibitors or angiotensin II receptor antagonists. Severe fetal hypotension may also account for hypocalvaria, another feature of RTD of both the primary and secondary types. In contrast with endochondral bones, unaffected in RTD, persistent low blood pressure may affect skull membrane bone, which is highly vascular and requires high oxygen tension for normal growth and ossification (<a href="#4" class="mim-tip-reference" title="Barr, M., Jr., Cohen, M. M., Jr. <strong>ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection.</strong> Teratology 44: 485-495, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1771591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1771591</a>] [<a href="https://doi.org/10.1002/tera.1420440503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1771591">Barr and Cohen, 1991</a>). Wide fontanels were described in several of the cases of renal tubular dysgenesis studied by <a href="#5" class="mim-tip-reference" title="Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M. C. <strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong> Nature Genet. 37: 964-968, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>] [<a href="https://doi.org/10.1038/ng1623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116425">Gribouval et al. (2005)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16116425+1771591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese infant with renal tubular dysgenesis, <a href="#14" class="mim-tip-reference" title="Uematsu, M., Sakamoto, O., Nishio, T., Ohura, T., Matsuda, T., Inagaki, T., Abe, T., Okamura, K., Kondo, Y., Tsuchiya, S. <strong>A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.</strong> Am. J. Med. Genet. 140A: 2355-2360, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036344</a>] [<a href="https://doi.org/10.1002/ajmg.a.31448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17036344">Uematsu et al. (2006)</a> identified compound heterozygosity for 2 mutations in the AGT gene (<a href="/entry/106150#0004">106150.0004</a> and <a href="/entry/106150#0005">106150.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17036344" 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="#6" class="mim-tip-reference" title="Gribouval, O., Moriniere, V., Pawtowski, A., Arrondel, C., Sallinen, S.-L., Saloranta, C., Clericuzio, C., Viot, G., Tantau, J., Blesson, S., Cloarec, S., Machet, M. C., and 43 others. <strong>Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.</strong> Hum. Mutat. 33: 316-326, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22095942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22095942</a>] [<a href="https://doi.org/10.1002/humu.21661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22095942">Gribouval et al. (2012)</a> reviewed 54 distinct mutations identified in 48 unrelated families with renal tubular dysgenesis, some of whom had previously been reported. Mutations in the ACE gene were the most common, found in 64.4% of families. Mutations in the REN gene were found in 20% of families, whereas AGT mutations were found in only 4 families, and AGTR1 mutations in 3 (8.3%). There were no genotype/phenotype correlations. The findings indicated that the disorder is due to defects affecting the common RAS pathway, regardless of the specific gene involved. Inactivation of the RAS pathway results in low systemic blood pressure and renal blood flow during fetal life, precluding normal development of the renal tubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22095942" 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>Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.</strong>
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Am. J. Med. Genet. 43: 811-814, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430512" target="_blank">Full Text</a>]
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<strong>Possible new autosomal recessive syndrome with unusual renal histopathological changes.</strong>
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Am. J. Med. Genet. 16: 57-60, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6638071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6638071</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6638071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320160110" target="_blank">Full Text</a>]
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Ariel, I., Wells, T. R., Landing, B. H., Sagi, M., Bar-Oz, B., Ron, N., Rosenmann, E.
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<strong>Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules.</strong>
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Pediat. Path. Lab. Med. 15: 915-922, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8705201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8705201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8705201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection.</strong>
|
|
Teratology 44: 485-495, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1771591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1771591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1771591" 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/tera.1420440503" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Gribouval2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M. C.
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<strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong>
|
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Nature Genet. 37: 964-968, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116425" 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/ng1623" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Gribouval2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gribouval, O., Moriniere, V., Pawtowski, A., Arrondel, C., Sallinen, S.-L., Saloranta, C., Clericuzio, C., Viot, G., Tantau, J., Blesson, S., Cloarec, S., Machet, M. C., and 43 others.
|
|
<strong>Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.</strong>
|
|
Hum. Mutat. 33: 316-326, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22095942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22095942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22095942" 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.21661" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Hisama1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hisama, F. M., Reyes-Mugica, M., Wargowski, D. S., Thompson, K. J., Mahoney, M. J.
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<strong>Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.</strong>
|
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Am. J. Med. Genet. 80: 335-342, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Horvath2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horvath, G. A., Armstrong, L.
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<strong>Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.</strong>
|
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Am. J. Hum. Genet. 143A: 1231-1235, 2007.
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<a id="9" class="mim-anchor"></a>
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<a id="MacMahon1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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MacMahon, P., Blackie, R. A. S., House, M. J., Risdon, R. A., Crawfurd, M. d'A.
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<strong>A further family with congenital renal proximal tubular dysgenesis.</strong>
|
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J. Med. Genet. 27: 395-398, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.27.6.395" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="McFadden1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McFadden, D. E., Pantzar, J. T., Van Allen, M. I., Langlois, S.
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<strong>Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.</strong>
|
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J. Med. Genet. 34: 846-848, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9350819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9350819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9350819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.34.10.846" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Russo1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Russo, R., D'Armiento, M., Vecchione, R.
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<strong>Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.</strong>
|
|
Am. J. Med. Genet. 39: 482-485, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1877630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390423" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Schwartz1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schwartz, B. R., Lage, J. M., Pober, B. R., Driscoll, S. G.
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<strong>Isolated congenital renal tubular immaturity in siblings.</strong>
|
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Hum. Path. 17: 1259-1263, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3539761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3539761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3539761" 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/s0046-8177(86)80570-6" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Swinford1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Swinford, A. E., Bernstein, J., Higgins, J. V., Pradhan, S.
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<strong>Confirmation of an autosomal recessive renal syndrome characterized by primitive renal tubules. (Abstract)</strong>
|
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Am. J. Hum. Genet. 39: A83 only, 1986.
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Uematsu2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Uematsu, M., Sakamoto, O., Nishio, T., Ohura, T., Matsuda, T., Inagaki, T., Abe, T., Okamura, K., Kondo, Y., Tsuchiya, S.
|
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<strong>A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.</strong>
|
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Am. J. Med. Genet. 140A: 2355-2360, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17036344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17036344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17036344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31448" 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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<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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Cassandra L. Kniffin - updated : 5/1/2013
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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 : 2/1/2008<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Victor A. McKusick - updated : 9/27/2005<br>Victor A. McKusick - updated : 12/30/1998<br>Michael J. Wright - updated : 6/5/1998<br>Iosif W. Lurie - updated : 1/8/1997
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</span>
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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="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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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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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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>
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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 : 05/02/2013
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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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ckniffin : 5/1/2013<br>terry : 3/20/2012<br>wwang : 2/3/2010<br>wwang : 2/5/2008<br>terry : 2/1/2008<br>wwang : 1/22/2007<br>ckniffin : 12/21/2006<br>terry : 12/14/2005<br>alopez : 9/28/2005<br>terry : 9/27/2005<br>alopez : 7/14/2005<br>tkritzer : 1/20/2005<br>mgross : 3/17/2004<br>carol : 1/6/1999<br>terry : 12/30/1998<br>alopez : 6/17/1998<br>terry : 6/5/1998<br>terry : 3/6/1997<br>terry : 3/6/1997<br>jenny : 3/4/1997<br>jenny : 1/21/1997<br>jenny : 1/8/1997<br>mimadm : 3/12/1994<br>carol : 8/24/1992<br>supermim : 3/17/1992<br>carol : 6/25/1991<br>carol : 7/3/1990<br>supermim : 3/20/1990
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 267430
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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RENAL TUBULAR DYSGENESIS; RTD
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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PRIMITIVE RENAL TUBULE SYNDROME
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</span>
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<div>
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<br />
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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<div>
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<span class="h3 mim-font">
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RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED
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</span>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702397002;
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<strong>ORPHA:</strong> 3033, 97369;
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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1q32.1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Renal tubular dysgenesis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
267430
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
REN
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
179820
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
1q42.2
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Renal tubular dysgenesis
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
267430
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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<td>
|
|
<span class="mim-font">
|
|
AGT
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
106150
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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3q24
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Renal tubular dysgenesis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
267430
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
AGTR1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
106165
|
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</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">
|
|
17q23.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Renal tubular dysgenesis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
267430
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
ACE
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
106180
|
|
</span>
|
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</td>
|
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</tr>
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|
|
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because renal tubular dysgenesis is caused by homozygous or compound heterozygous mutation in genes encoding components of the renin-angiotensin system: renin (179820) on chromosome 1q32, angiotensinogen (106150) on chromosome 1q42, angiotensin-converting enzyme (106180) on chromosome 17q23, or angiotensin II receptor type 1 (106165) on chromosome 3q24.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Allanson et al. (1983) described 2 stillborn females born consecutively of a nonconsanguineous Chinese couple. Both had the Potter syndrome resulting from oligohydramnios and showed a seemingly unique histologic change in the kidneys. Normal proximal convoluted tubules were absent and all tubules appeared abnormally developed, primitive and reminiscent of collecting tubules. The father had suffered from 'minimal change' glomerulonephritis. Swinford et al. (1986) described a second nonconsanguineous family of northern European and American descent in which 2 males and 1 female died with oligohydramnios sequence and pulmonary hypoplasia. The renal tissue in these children demonstrated abnormally developed, primitive renal tubules and interstitial fibrous connective tissue. </p><p>Schwartz et al. (1986) described male and female sibs with congenital renal tubular immaturity. </p><p>MacMahon et al. (1990) reported a typical case in an infant born of unrelated parents and reviewed 12 previous cases distributed in 5 families. </p><p>Russo et al. (1991) reported an infant with this disorder who survived for 15 days after birth. The infant also had acrocephalosyndactyly of the Saethre-Chotzen type (101400), which was present in other members of the family. </p><p>Allanson et al. (1992) reported an additional 9 cases from one pediatric center. Early prenatal diagnosis may be difficult because amniotic fluid volumes have been shown to be normal in affected pregnancies before 22 weeks' gestation. Late second trimester sonographic demonstration of oligohydramnios, with structurally normal kidneys, should suggest the diagnosis and the need for detailed postmortem pathologic examination for this disorder, which may not be as rare as was previously thought. </p><p>Ariel et al. (1995) described a family in which consanguineous Palestinian Muslim Arab parents had 3 affected children. Microdissection of the nephrons in a male infant who died 30 hours after birth showed marked hypoplasia of all segments of the nephron, from the glomerulus to the collecting tubule. The authors suggested that hypoplasia of the distal parts of nephron, as well as the proximal convoluted tubule, is characteristic for this disorder. </p><p>McFadden et al. (1997) reported 2 cases of renal tubular dysgenesis, both of whom had calvarial hypoplasia. They noted that 6 of the 24 cases reported by Allanson et al. (1992) had associated microcephaly, underdeveloped cranial bones, or widely patent fontanels, and that a number of other reported cases had skull abnormalities. McFadden et al. (1997) suggested that skull abnormalities are a common component of the inherited form of renal tubular dysgenesis, as they are in the acquired form of renal tubular dysgenesis associated with maternal use of angiotensin-converting enzyme (ACE; 106180) inhibitors. McFadden et al. (1997) concluded that skull abnormalities may be important in suggesting the diagnosis of renal tubular dysgenesis. </p><p>Uematsu et al. (2006) reported a Japanese female infant with renal tubular dysgenesis. The patient was born at 35 weeks gestation with Potter syndrome, hypoplastic lungs, and severe hypotension. Treatment with fresh frozen plasma and peritoneal dialysis resulted in clinical improvement and she had spontaneous urination at day 29. Endocrine studies showed a discrepancy between low plasma renin activity and high active renin concentrations, suggesting a negative feedback loop response in the renin-angiotensin system. At age 18 months, she had no obvious motor or mental retardation. An older brother with similar features had died a few days after birth. </p><p><strong><em>Renal Tubular Dysgenesis with Choanal Atresia and Athelia</em></strong></p><p>
|
|
Hisama et al. (1998) reported a lethal syndrome in 3 brothers which was characterized particularly by renal tubular dysgenesis and absent nipples (athelia). All 3 infants died neonatally and each had other malformations including preauricular pits and a preauricular tag, branchial clefts, choanal atresia, pulmonary lobation anomaly, ventricular septal defect, type IIB interrupted aortic arch, absent gallbladder, absent thymus, parathyroid gland, accessory spleen, imperforate anus, clinodactyly, and broad digits and small nails. One had a marker chromosome which appeared to be mainly Y heterochromatin and was probably unrelated to the syndrome because it was absent in the other 2 patients. X-linked recessive inheritance was possible; however, there were 4 healthy maternal uncles. Autosomal dominant inheritance with gonadal mosaicism also could not be excluded. Furthermore, a subtle chromosomal abnormality leading to contiguous gene effects could not be ruled out. </p><p>Horvath and Armstrong (2007) described a female infant, born to a nonconsanguineous couple who had 2 previous miscarriages, who appeared to share a syndrome with the 3 brothers reported by Hisama et al. (1998). Her renal function was initially impaired, but improved over the first weeks of life, although there was persistent renal magnesium wasting. Her craniofacial appearance with infraorbital creases and low-set, dysplastic ears was similar to that described by Hisama et al. (1998); she also had choanal atresia, gingival cysts, a preauricular pit, athelia, right aortic arch with a vascular ring, broad digits with small nails, impaired glucose homeostasis, hypoadrenalism, neurologic impairment, and brain calcifications and periventricular leukomalacia on CT scan. She died at 13 weeks due to progressive central respiratory failure. There was a family history of neck cysts, renal failure, and adult-onset nasal passage problems. Horvath and Armstrong (2007) considered the 4 salient features of this apparent syndrome to be choanal atresia/stenosis, athelia, renal tubular dysfunction, and family and/or personal history of neck cysts or branchial clefts. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gribouval et al. (2005) studied 11 individuals with renal tubular dysgenesis (RTD) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding renin (REN; 179820.0002), angiotensinogen (AGT; 106150.0003), angiotensin-converting enzyme (ACE; 106180.0003), or angiotensin II receptor type 1 (AGTR1; 106165.0003). They proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This appeared to be the first identification of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. Hypoperfusion of the fetal kidneys had been suggested as the mechanism of RTD by findings in the twin-twin transfusion syndrome in monochorionic twin gestations (in which the donor fetus may develop RTD), major cardiac malformations, and severe liver diseases. RTD with large fontanels has also been observed in fetuses exposed in utero to ACE inhibitors or angiotensin II receptor antagonists. Severe fetal hypotension may also account for hypocalvaria, another feature of RTD of both the primary and secondary types. In contrast with endochondral bones, unaffected in RTD, persistent low blood pressure may affect skull membrane bone, which is highly vascular and requires high oxygen tension for normal growth and ossification (Barr and Cohen, 1991). Wide fontanels were described in several of the cases of renal tubular dysgenesis studied by Gribouval et al. (2005). </p><p>In a Japanese infant with renal tubular dysgenesis, Uematsu et al. (2006) identified compound heterozygosity for 2 mutations in the AGT gene (106150.0004 and 106150.0005). </p><p>Gribouval et al. (2012) reviewed 54 distinct mutations identified in 48 unrelated families with renal tubular dysgenesis, some of whom had previously been reported. Mutations in the ACE gene were the most common, found in 64.4% of families. Mutations in the REN gene were found in 20% of families, whereas AGT mutations were found in only 4 families, and AGTR1 mutations in 3 (8.3%). There were no genotype/phenotype correlations. The findings indicated that the disorder is due to defects affecting the common RAS pathway, regardless of the specific gene involved. Inactivation of the RAS pathway results in low systemic blood pressure and renal blood flow during fetal life, precluding normal development of the renal tubules. </p>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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|
<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Allanson, J. E., Hunter, A. G. W., Mettler, G. S., Jimenez, C.
|
|
<strong>Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.</strong>
|
|
Am. J. Med. Genet. 43: 811-814, 1992.
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[PubMed: 1642268]
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[Full Text: https://doi.org/10.1002/ajmg.1320430512]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Allanson, J. E., Pantzar, J. T., MacLeod, P. M.
|
|
<strong>Possible new autosomal recessive syndrome with unusual renal histopathological changes.</strong>
|
|
Am. J. Med. Genet. 16: 57-60, 1983.
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[PubMed: 6638071]
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[Full Text: https://doi.org/10.1002/ajmg.1320160110]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ariel, I., Wells, T. R., Landing, B. H., Sagi, M., Bar-Oz, B., Ron, N., Rosenmann, E.
|
|
<strong>Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules.</strong>
|
|
Pediat. Path. Lab. Med. 15: 915-922, 1995.
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[PubMed: 8705201]
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[Full Text: https://doi.org/10.3109/15513819509027027]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Barr, M., Jr., Cohen, M. M., Jr.
|
|
<strong>ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection.</strong>
|
|
Teratology 44: 485-495, 1991.
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[PubMed: 1771591]
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[Full Text: https://doi.org/10.1002/tera.1420440503]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Gribouval, O., Gonzales, M., Neuhaus, T., Aziza, J., Bieth, E., Laurent, N., Bouton, J. M., Feuillet, F., Makni, S., Ben Amar, H., Laube, G., Delezoide, A.-L., Bouvier, R., Dijoud, F., Ollagnon-Roman, E., Roume, J., Joubert, M., Antignac, C., Gubler, M. C.
|
|
<strong>Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.</strong>
|
|
Nature Genet. 37: 964-968, 2005.
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[PubMed: 16116425]
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[Full Text: https://doi.org/10.1038/ng1623]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gribouval, O., Moriniere, V., Pawtowski, A., Arrondel, C., Sallinen, S.-L., Saloranta, C., Clericuzio, C., Viot, G., Tantau, J., Blesson, S., Cloarec, S., Machet, M. C., and 43 others.
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|
<strong>Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.</strong>
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|
Hum. Mutat. 33: 316-326, 2012.
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[PubMed: 22095942]
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[Full Text: https://doi.org/10.1002/humu.21661]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hisama, F. M., Reyes-Mugica, M., Wargowski, D. S., Thompson, K. J., Mahoney, M. J.
|
|
<strong>Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.</strong>
|
|
Am. J. Med. Genet. 80: 335-342, 1998.
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[PubMed: 9856560]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Horvath, G. A., Armstrong, L.
|
|
<strong>Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.</strong>
|
|
Am. J. Hum. Genet. 143A: 1231-1235, 2007.
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|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
MacMahon, P., Blackie, R. A. S., House, M. J., Risdon, R. A., Crawfurd, M. d'A.
|
|
<strong>A further family with congenital renal proximal tubular dysgenesis.</strong>
|
|
J. Med. Genet. 27: 395-398, 1990.
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|
[PubMed: 2359105]
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[Full Text: https://doi.org/10.1136/jmg.27.6.395]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
McFadden, D. E., Pantzar, J. T., Van Allen, M. I., Langlois, S.
|
|
<strong>Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.</strong>
|
|
J. Med. Genet. 34: 846-848, 1997.
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|
|
[PubMed: 9350819]
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[Full Text: https://doi.org/10.1136/jmg.34.10.846]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Russo, R., D'Armiento, M., Vecchione, R.
|
|
<strong>Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.</strong>
|
|
Am. J. Med. Genet. 39: 482-485, 1991.
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|
[PubMed: 1877630]
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[Full Text: https://doi.org/10.1002/ajmg.1320390423]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, B. R., Lage, J. M., Pober, B. R., Driscoll, S. G.
|
|
<strong>Isolated congenital renal tubular immaturity in siblings.</strong>
|
|
Hum. Path. 17: 1259-1263, 1986.
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|
|
|
|
[PubMed: 3539761]
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|
[Full Text: https://doi.org/10.1016/s0046-8177(86)80570-6]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Swinford, A. E., Bernstein, J., Higgins, J. V., Pradhan, S.
|
|
<strong>Confirmation of an autosomal recessive renal syndrome characterized by primitive renal tubules. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 39: A83 only, 1986.
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Uematsu, M., Sakamoto, O., Nishio, T., Ohura, T., Matsuda, T., Inagaki, T., Abe, T., Okamura, K., Kondo, Y., Tsuchiya, S.
|
|
<strong>A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.</strong>
|
|
Am. J. Med. Genet. 140A: 2355-2360, 2006.
|
|
|
|
|
|
[PubMed: 17036344]
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|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31448]
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</p>
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</li>
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</ol>
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<div>
|
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<br />
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Cassandra L. Kniffin - updated : 5/1/2013<br>Marla J. F. O'Neill - updated : 2/1/2008<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Victor A. McKusick - updated : 9/27/2005<br>Victor A. McKusick - updated : 12/30/1998<br>Michael J. Wright - updated : 6/5/1998<br>Iosif W. Lurie - updated : 1/8/1997
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Victor A. McKusick : 6/4/1986
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carol : 05/02/2013<br>ckniffin : 5/1/2013<br>terry : 3/20/2012<br>wwang : 2/3/2010<br>wwang : 2/5/2008<br>terry : 2/1/2008<br>wwang : 1/22/2007<br>ckniffin : 12/21/2006<br>terry : 12/14/2005<br>alopez : 9/28/2005<br>terry : 9/27/2005<br>alopez : 7/14/2005<br>tkritzer : 1/20/2005<br>mgross : 3/17/2004<br>carol : 1/6/1999<br>terry : 12/30/1998<br>alopez : 6/17/1998<br>terry : 6/5/1998<br>terry : 3/6/1997<br>terry : 3/6/1997<br>jenny : 3/4/1997<br>jenny : 1/21/1997<br>jenny : 1/8/1997<br>mimadm : 3/12/1994<br>carol : 8/24/1992<br>supermim : 3/17/1992<br>carol : 6/25/1991<br>carol : 7/3/1990<br>supermim : 3/20/1990
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