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- #137920 - RENAL CYSTS AND DIABETES SYNDROME; RCAD
- OMIM
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<span class="h4">#137920</span>
<br />
<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/137920"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS162000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<div><a href="https://clinicaltrials.gov/search?cond=RENAL CYSTS AND DIABETES SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://decipher.sanger.ac.uk/syndrome/47" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<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;">&#9658;</span>EuroGentest</div>
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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=10332&Typ=Pat" title="Autosomal dominant tubulointerstitial kidney disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant tubuloi…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12168&Typ=Pat" title="HNF1B-related autosomal dominant tubulointerstitial kidney disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">HNF1B-related autosomal do…&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK401562/" title="17q12 Recurrent Deletion Syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">17q12 Recurrent Deletion S…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK500456/" title="Maturity-Onset Diabetes of the Young Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Maturity-Onset Diabetes of…</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4510" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=137920[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>
<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;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34149" title="Autosomal dominant tubulointerstitial kidney disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant tubuloi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93111" title="HNF1B-related autosomal dominant tubulointerstitial kidney disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">HNF1B-related autosomal do…</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/165171de-fc17-4499-861d-ea0a7dfcbba6/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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111101" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/137920" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 253864004, 609572000<br />
<strong>ORPHA:</strong> 34149, 93111<br />
<strong>DO:</strong> 0111101<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
137920
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RENAL CYSTS AND DIABETES SYNDROME; RCAD
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5<br />HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL<br />FJHN, ATYPICAL<br /><div class="mim-changed mim-change">TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 3; ADTKD3</div>GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE<br />GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC<br />CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES<br />CAKUT WITH DIABETES<br />
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/459?start=-3&limit=10&highlight=459">
17q12
</a>
</span>
</td>
<td>
<span class="mim-font">
Renal cysts and diabetes syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137920"> 137920 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
HNF1B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189907"> 189907 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/137920" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS162000" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/137920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/137920" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- No obesity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855532</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Subclinical abnormal liver function tests <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pancreas atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88281007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88281007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K86.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K86.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000156</a>]</span><br /> -
Subclinical defect in pancreatic exocrine function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842004</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> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asthenospermia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24463005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24463005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403823</a>, <a href="https://bioportal.bioontology.org/search?q=C4082176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082176</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012207</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012207</a>]</span><br /> -
Epididymal cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43077002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43077002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N50.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N50.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5442141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5442141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030424" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030424</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030424" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030424</a>]</span><br /> -
Atresia of the vas deferens <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39513007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39513007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266445</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030997</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vagina aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003250</a>]</span><br /> -
Rudimentary uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br /> -
Bicornuate uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31401003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31401003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289637001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289637001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266387&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266387</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital anomalies of the kidney and urinary tract (CAKUT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968949</a>]</span><br /> -
Chronic renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/709044004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">709044004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/585.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1561643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1561643</a>, <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
Structural kidney abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551596</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012210" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012210</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012210" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012210</a>]</span><br /> -
Unilateral kidney agenesis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000122" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000122</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000122" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000122</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204942005</a>]</span><br /> -
Renal cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br /> -
Renal hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32659003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32659003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span><br /> -
Renal parenchymal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/767094002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">767094002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841992&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841992</a>]</span><br /> -
Interstitial fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125565008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125565008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887486</a>]</span><br /> -
Cortical atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551583</a>, <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002120</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002120</a>]</span><br /> -
Abnormal nephrogenesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841993</a>]</span><br /> -
Decreased numbers of glomeruli <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841994&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841994</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005563" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005563</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005563" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005563</a>]</span><br /> -
Enlarged glomeruli <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4022604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4022604</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030162</a>]</span><br /> -
Glomerular tufts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841996</a>]</span><br /> -
Glomerular cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841997&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841997</a>]</span><br /> -
Oligomeganephronia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18417009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18417009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431694</a>]</span><br /> -
Abnormal renal calyces <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841999</a>]</span><br /> -
Abnormal renal pelvises <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805621</a>]</span><br /> -
Pelviureteric junction obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95575002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95575002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q62.39" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q62.39</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521619</a>, <a href="https://bioportal.bioontology.org/search?q=C5574705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000074</a>]</span><br /> -
Hypoplastic glomerulocystic kidney disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805622</a>]</span><br /> -
Reduced fractional excretion of uric acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842002</a>]</span><br /> -
Renal calculi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95570007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95570007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/592.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">592.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392525</a>, <a href="https://bioportal.bioontology.org/search?q=C0022650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gout, early-onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842005</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br /> -
Impaired glucose tolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267426009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267426009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9414007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9414007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151671</a>, <a href="https://bioportal.bioontology.org/search?q=C0271650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040270</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040270</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Glucosuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45154002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45154002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017979</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003076</a>]</span><br /> -
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
Increased serum creatinine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166717003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166717003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003259</a>]</span><br /> -
Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Variable age at onset, range infancy to adult<br /> -
If onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (MODY5)<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the hepatocyte nuclear factor-1-beta gene (TCF2, <a href="/entry/189907#0001">189907.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Tubulointerstitial kidney disease
- <a href="/phenotypicSeries/PS162000">PS162000</a>
- 6 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1214?start=-3&limit=10&highlight=1214"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174000"> Tubulointerstitial kidney disease, autosomal dominant, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174000"> 174000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158340"> MUC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/158340"> 158340 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1606?start=-3&limit=10&highlight=1606"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613092"> Tubulointerstitial kidney disease, autosomal dominant, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613092"> 613092 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179820"> REN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179820"> 179820 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/647?start=-3&limit=10&highlight=647"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617056"> Tubulointerstitial kidney disease, autosomal dominant, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617056"> 617056 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609213"> SEC61A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609213"> 609213 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/958?start=-3&limit=10&highlight=958"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621106"> Tubulointerstitial kidney disease, autosomal dominant 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621106"> 621106 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107690"> APOA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107690"> 107690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/243?start=-3&limit=10&highlight=243"> 16p12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162000"> Tubulointerstitial kidney disease, autosomal dominant, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162000"> 162000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191845"> UMOD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191845"> 191845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/459?start=-3&limit=10&highlight=459"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137920"> Renal cysts and diabetes syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137920"> 137920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189907"> HNF1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189907"> 189907 </a>
</span>
</td>
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<p>A number sign (#) is used with this entry because of evidence that renal cysts and diabetes syndrome (RCAD) is caused by heterozygous mutation in the TCF2 gene (HNF1B; <a href="/entry/189907">189907</a>) on chromosome 17q12.</p>
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<p>Renal cysts and diabetes syndrome (RCAD) is an autosomal dominant multisystemic disorder with significant phenotypic heterogeneity. It is characterized by (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, and horseshoe kidney. Some patients with renal disease have hyperuricemic nephropathy with tubulointerstitial changes on biopsy, consistent with autosomal dominant tubulointerstitial kidney disease (ADTKD). Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (<a href="#3" class="mim-tip-reference" title="Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., van&#x27;t Hoff, W. G., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., Hattersley, A. T. &lt;strong&gt;Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease.&lt;/strong&gt; Am. J. Hum. Genet. 68: 219-224, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11085914/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11085914&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/316945&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11085914">Bingham et al., 2001</a>; <a href="#8" class="mim-tip-reference" title="Fajans, S. S., Bell, G. I., Polonsky, K. S. &lt;strong&gt;Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.&lt;/strong&gt; New Eng. J. Med. 345: 971-980, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11575290/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11575290&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMra002168&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11575290">Fajans et al., 2001</a>; <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noel, L.-H., Velho, G., Timsit, J. &lt;strong&gt;Clinical spectrum associated with hepatocyte nuclear factor-1B mutations.&lt;/strong&gt; Ann. Intern. Med. 140: 510-517, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15068978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15068978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-140-7-200404060-00009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15068978">Bellanne-Chantelot et al., 2004</a>; <a href="#7" class="mim-tip-reference" title="Edghill, E. L., Bingham, C., Ellard, S., Hattersley, A. T. &lt;strong&gt;Mutations in hepatocyte nuclear factor-1-beta and their related phenotypes.&lt;/strong&gt; J. Med. Genet. 43: 84-90, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15930087/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15930087&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15930087[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.032854&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15930087">Edghill et al., 2006</a>; summary by <a href="#6" class="mim-tip-reference" title="Devuyst, O., Olinger, E., Weber, S., Eckardt, K.-U., Kmoch, S., Rampoldi, L., Bleyer, A. J. &lt;strong&gt;Autosomal dominant tubulointerstitial kidney disease.&lt;/strong&gt; Nat. Rev. Dis. Primers. 5: 60, 2019. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31488840/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31488840&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41572-019-0109-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31488840">Devuyst et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15068978+11085914+15930087+31488840+11575290" 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>For a phenotypic description and a discussion of genetic heterogeneity of MODY, see <a href="/entry/606391">606391</a>.</p><p>For a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 (<a href="/entry/162000">162000</a>).</p><p>The renal abnormalities are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see <a href="/entry/610805">610805</a>) (summary by <a href="#16" class="mim-tip-reference" title="Nakayama, M., Nozu, K., Goto, Y., Kamei, K., Ito, S., Sato, H., Emi, M., Nakanishi, K., Tsuchiya, S., Iijima, K. &lt;strong&gt;HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.&lt;/strong&gt; Pediat. Nephrol. 25: 1073-1079, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20155289/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20155289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00467-010-1454-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20155289">Nakayama et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20155289" 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="#10" class="mim-tip-reference" title="Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I. &lt;strong&gt;Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)&lt;/strong&gt; Nature Genet. 17: 384-385, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398836/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9398836&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-384&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9398836">Horikawa et al. (1997)</a> reported a Japanese family in which 3 sibs developed MODY at ages 14, 10, and 15 years, respectively. Their mother and maternal uncle developed diabetes at ages 40 and 60, respectively; their father developed diabetes at age 50. A nonspecific nephropathy was described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398836" 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="Lindner, T. H., Njolstad, P. R., Horikawa, Y., Bostad, L., Bell, G. I., Sovik, O. &lt;strong&gt;A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta.&lt;/strong&gt; Hum. Molec. Genet. 8: 2001-2008, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10484768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10484768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.11.2001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10484768">Lindner et al. (1999)</a> reported a Norwegian family with autosomal dominant inheritance of a syndrome comprising mild diabetes and progressive nondiabetic renal disease; 2 of the 4 affected females also had severe genital malformations, consisting of vaginal aplasia and rudimentary uterus (see <a href="/entry/277000">277000</a>), but no virilization or hirsutism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484768" 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="#20" class="mim-tip-reference" title="Sovik, O., Sagen, J., Njolstad, P. R., Nyland, H., Myhr, K. M. &lt;strong&gt;Contributions to the MODY5 phenotype.&lt;/strong&gt; J. Inherit. Metab. Dis. 25: 597-598, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12638944/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12638944&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1022051609386&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12638944">Sovik et al. (2002)</a> reported follow-up on the family with MODY5 originally reported by <a href="#12" class="mim-tip-reference" title="Lindner, T. H., Njolstad, P. R., Horikawa, Y., Bostad, L., Bell, G. I., Sovik, O. &lt;strong&gt;A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta.&lt;/strong&gt; Hum. Molec. Genet. 8: 2001-2008, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10484768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10484768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.11.2001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10484768">Lindner et al. (1999)</a>. One of the female patients in that family had dental anomalies with enamel defects, vaginal aplasia, and rudimentary uterus. She developed renal failure necessitating renal transplantation at age 21 years. Postoperative immunosuppressive treatment with cyclosporin A was stopped after 1 year owing to possible neurotoxicity. On continued treatment with steroids, she developed manifest diabetes. Following renal transplantation she developed progressive neurologic symptoms, spastic paraparesis, visual disturbances, ataxia, hearing loss, and 1 epileptic seizure. Neurologic examination indicated multiple lesions in the central nervous system, and cerebrospinal fluid analysis showed elevated IgG and oligoclonal bands, but normal cell count. MRI was normal, but visual, auditory, and somatosensory evoked responses showed pathologic signals. No evidence of viral infection was detected. Overall, the neurologic evaluation showed a progressive multifocal disease compatible with primary progressive multiple sclerosis, although with normal brain MRI. She died at age 27 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10484768+12638944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney: a new entity?&lt;/strong&gt; Clin. Nephrol. 18: 263-268, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151342/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151342&lt;/a&gt;]" pmid="7151342">Rizzoni et al. (1982)</a> reported 2 Italian sisters with what they termed 'familial hypoplastic glomerulocystic kidney disease.' The kidneys were small, with absence of the renal papillae, and chronic renal failure was observed from the first months of life. The mother had chronic renal failure with similar urographic abnormalities. <a href="#11" class="mim-tip-reference" title="Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.&lt;/strong&gt; Am. J. Med. Genet. 34: 569-573, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2624270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2624270&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320340423&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2624270">Kaplan et al. (1989)</a> reported a mother and son with hypoplastic glomerulocystic kidney disease similar to that described by <a href="#18" class="mim-tip-reference" title="Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney: a new entity?&lt;/strong&gt; Clin. Nephrol. 18: 263-268, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151342/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151342&lt;/a&gt;]" pmid="7151342">Rizzoni et al. (1982)</a>. The kidneys were small, with cysts and abnormal calyces. Both mother and son had proportionate short stature; the mother also had pyloric stenosis and marked prognathism, the latter of which had been described in one of the patients of <a href="#18" class="mim-tip-reference" title="Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney: a new entity?&lt;/strong&gt; Clin. Nephrol. 18: 263-268, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151342/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151342&lt;/a&gt;]" pmid="7151342">Rizzoni et al. (1982)</a>. Five of the mother's 7 sibs had evidence of cysts on renal ultrasonography. <a href="#3" class="mim-tip-reference" title="Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., van&#x27;t Hoff, W. G., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., Hattersley, A. T. &lt;strong&gt;Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease.&lt;/strong&gt; Am. J. Hum. Genet. 68: 219-224, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11085914/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11085914&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/316945&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11085914">Bingham et al. (2001)</a> reported follow-up on the families described by <a href="#18" class="mim-tip-reference" title="Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney: a new entity?&lt;/strong&gt; Clin. Nephrol. 18: 263-268, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151342/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151342&lt;/a&gt;]" pmid="7151342">Rizzoni et al. (1982)</a> and <a href="#11" class="mim-tip-reference" title="Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.&lt;/strong&gt; Am. J. Med. Genet. 34: 569-573, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2624270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2624270&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320340423&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2624270">Kaplan et al. (1989)</a>. All affected members had small kidneys and renal impairment. Intravenous pyelogram showed absent calyces and irregular, enlarged collecting systems. Renal histology showed cortical cysts with cystic glomeruli and glomerular tufts. All patients developed early-onset diabetes mellitus with onset ranging from 17 to 39 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7151342+11085914+2624270" 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="#4" class="mim-tip-reference" title="Bingham, C., Ellard, S., van&#x27;t Hoff, W. G., Simmonds, H. A., Marinaki, A. M., Badman, M. K., Winocour, P. H., Stride, A., Lockwood, C. R., Nicholls, A. J., Owen, K. R., Spyer, G., Peason, E. R., Hattersley, A. T. &lt;strong&gt;Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1-beta gene mutation.&lt;/strong&gt; Kidney Int. 63: 1645-1651, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12675839/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12675839&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1755.2003.00903.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12675839">Bingham et al. (2003)</a> reported a family in which 7 individuals had juvenile-onset hyperuricemic nephropathy inherited in an autosomal dominant pattern. Three patients developed early-onset gout at ages 21, 23, and 27 years. Four of the patients developed diabetes at ages 40, 43, 38, and 12 years, 3 had renal cysts or other disorders of renal development, and 2 had small kidneys. All patients showed improved renal function on allopurinol treatment. The family had originally been reported by <a href="#5" class="mim-tip-reference" title="Calabrese, G., Simmonds, H. A., Cameron, J. S., Davies, P. M. &lt;strong&gt;Precocious familial gout with reduced fractional urate clearance and normal purine enzymes.&lt;/strong&gt; Quart. J. Med. 75: 441-450, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2388995/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2388995&lt;/a&gt;]" pmid="2388995">Calabrese et al. (1990)</a> as part of a large series of patients with hyperuricemia or gout due to subnormal renal tubular clearance of uric acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12675839+2388995" 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="#4" class="mim-tip-reference" title="Bingham, C., Ellard, S., van&#x27;t Hoff, W. G., Simmonds, H. A., Marinaki, A. M., Badman, M. K., Winocour, P. H., Stride, A., Lockwood, C. R., Nicholls, A. J., Owen, K. R., Spyer, G., Peason, E. R., Hattersley, A. T. &lt;strong&gt;Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1-beta gene mutation.&lt;/strong&gt; Kidney Int. 63: 1645-1651, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12675839/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12675839&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1755.2003.00903.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12675839">Bingham et al. (2003)</a> found that 9 unrelated patients with TCF2 mutations had significantly increased mean serum urate levels compared to 18 normal controls and 24 patients with type II diabetes (<a href="/entry/125853">125853</a>). Moreover, <a href="#4" class="mim-tip-reference" title="Bingham, C., Ellard, S., van&#x27;t Hoff, W. G., Simmonds, H. A., Marinaki, A. M., Badman, M. K., Winocour, P. H., Stride, A., Lockwood, C. R., Nicholls, A. J., Owen, K. R., Spyer, G., Peason, E. R., Hattersley, A. T. &lt;strong&gt;Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1-beta gene mutation.&lt;/strong&gt; Kidney Int. 63: 1645-1651, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12675839/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12675839&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1755.2003.00903.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12675839">Bingham et al. (2003)</a> found evidence of gout in young females in 3 of 9 other reported families with TCF2 mutations. The findings suggested that hyperuricemia and gout are additional independent features of the renal cysts and diabetes syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12675839" 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="Bellanne-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noel, L.-H., Velho, G., Timsit, J. &lt;strong&gt;Clinical spectrum associated with hepatocyte nuclear factor-1B mutations.&lt;/strong&gt; Ann. Intern. Med. 140: 510-517, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15068978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15068978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-140-7-200404060-00009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15068978">Bellanne-Chantelot et al. (2004)</a> reported 13 patients from 8 families with renal cysts and diabetes syndrome caused by heterozygous mutations in the TCF2 gene. The patients had various renal abnormalities, including agenesis, dysplasia, and cystic disease. Pancreas atrophy was observed in 5 of 6 probands. Some patients had genital tract abnormalities, including bicornuate uterus, epididymal cysts, and atresia of the vas deferens. Eleven patients had abnormal liver enzyme levels without impaired liver function. <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noel, L.-H., Velho, G., Timsit, J. &lt;strong&gt;Clinical spectrum associated with hepatocyte nuclear factor-1B mutations.&lt;/strong&gt; Ann. Intern. Med. 140: 510-517, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15068978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15068978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-140-7-200404060-00009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15068978">Bellanne-Chantelot et al. (2004)</a> concluded that the phenotype caused by mutations in the TCF2 gene encompasses a wide clinical spectrum, and that TCF2 gene mutation analysis is warranted even without a family history of diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15068978" 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>From a cohort of 160 patients with renal disease of unknown etiology, <a href="#7" class="mim-tip-reference" title="Edghill, E. L., Bingham, C., Ellard, S., Hattersley, A. T. &lt;strong&gt;Mutations in hepatocyte nuclear factor-1-beta and their related phenotypes.&lt;/strong&gt; J. Med. Genet. 43: 84-90, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15930087/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15930087&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15930087[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.032854&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15930087">Edghill et al. (2006)</a> described 23 patients (14%) with heterozygous mutations in the HNF1B (TCF2) gene, 10 of whom had previously been reported. Renal cysts were the most common manifestation, present in 19 (83%) of 23 individuals. Four of these patients had a specific diagnosis of glomerulocystic kidney disease. Although 11 (48%) of 23 patients had diabetes, only 6 (26%) met the minimal MODY diagnostic criteria of families with at least 2 generations of diabetes with at least 1 patient diagnosed under the age of 25 years. Nine probands (39%) had both renal cysts and diabetes. In addition to renal cysts and diabetes, 2 probands (9%) had genital tract malformations; uterus didelphys with single ovary and hemi-uterus, respectively, whereas another female mutation carrier had unexplained primary infertility. <a href="#7" class="mim-tip-reference" title="Edghill, E. L., Bingham, C., Ellard, S., Hattersley, A. T. &lt;strong&gt;Mutations in hepatocyte nuclear factor-1-beta and their related phenotypes.&lt;/strong&gt; J. Med. Genet. 43: 84-90, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15930087/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15930087&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15930087[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.032854&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15930087">Edghill et al. (2006)</a> emphasized the clinical variability of renal disease associated with mutation in the TCF2 gene and noted that MODY is not an essential finding in patients carrying mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930087" 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>Clinical Variability</em></strong></p><p>
<a href="#16" class="mim-tip-reference" title="Nakayama, M., Nozu, K., Goto, Y., Kamei, K., Ito, S., Sato, H., Emi, M., Nakanishi, K., Tsuchiya, S., Iijima, K. &lt;strong&gt;HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.&lt;/strong&gt; Pediat. Nephrol. 25: 1073-1079, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20155289/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20155289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00467-010-1454-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20155289">Nakayama et al. (2010)</a> identified heterozygous pathogenic HNF1B mutations in 5 (10%) of 50 Japanese children with congenital anomalies of the kidney and urinary tract, including 2 with hypodysplastic kidneys and 3 with unilateral multicystic dysplastic kidneys. No mutations were found in 4 patients with a single kidney. There were 3 whole-gene deletions, 1 truncating mutation, and 1 missense mutation. The clinical spectrum of renal disease was variable, ranging in severity from unilateral disease and normal renal function to bilateral disease necessitating transplant. However, none of the patients had evidence of diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20155289" 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="#21" class="mim-tip-reference" title="Thomas, R., Sanna-Cherchi, S., Warady, B. A., Furth, S. L., Kaskel, F. J., Gharavi, A. G. &lt;strong&gt;HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.&lt;/strong&gt; Pediat. Nephrol. 26: 897-903, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21380624/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21380624&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00467-011-1826-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21380624">Thomas et al. (2011)</a> identified heterozygous pathogenic HNF1B mutations in 4 of 73 children with chronic kidney disease due to renal hypodysplasia. It was not known if the patients with HNF1B mutations had features of diabetes, and <a href="#21" class="mim-tip-reference" title="Thomas, R., Sanna-Cherchi, S., Warady, B. A., Furth, S. L., Kaskel, F. J., Gharavi, A. G. &lt;strong&gt;HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.&lt;/strong&gt; Pediat. Nephrol. 26: 897-903, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21380624/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21380624&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00467-011-1826-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21380624">Thomas et al. (2011)</a> concluded that they should be followed for extrarenal manifestations. The findings also had implications for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21380624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of RCAD in the family reported by <a href="#10" class="mim-tip-reference" title="Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I. &lt;strong&gt;Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)&lt;/strong&gt; Nature Genet. 17: 384-385, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398836/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9398836&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-384&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9398836">Horikawa et al. (1997)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Japanese sibs with a phenotype consistent with RCAD, <a href="#10" class="mim-tip-reference" title="Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I. &lt;strong&gt;Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)&lt;/strong&gt; Nature Genet. 17: 384-385, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398836/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9398836&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-384&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9398836">Horikawa et al. (1997)</a> identified a heterozygous mutation in the TCF2 gene (<a href="/entry/189907#0001">189907.0001</a>). The sibs developed diabetes mellitus at ages 10 and 15 years, respectively, consistent with a diagnosis of MODY5. Although both parents also had late-onset diabetes, only the mother carried the TCF2 mutation. <a href="#10" class="mim-tip-reference" title="Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I. &lt;strong&gt;Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)&lt;/strong&gt; Nature Genet. 17: 384-385, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398836/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9398836&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-384&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9398836">Horikawa et al. (1997)</a> postulated that the early onset in the children reflected bilineal inheritance of 2 different diabetes susceptibility genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398836" 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 affected members of a Norwegian family with diabetes and progressive nondiabetic renal disease, <a href="#12" class="mim-tip-reference" title="Lindner, T. H., Njolstad, P. R., Horikawa, Y., Bostad, L., Bell, G. I., Sovik, O. &lt;strong&gt;A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta.&lt;/strong&gt; Hum. Molec. Genet. 8: 2001-2008, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10484768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10484768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.11.2001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10484768">Lindner et al. (1999)</a> identified a heterozygous 75-bp deletion in the TCF2 gene (<a href="/entry/189907#0002">189907.0002</a>). The presence of vaginal aplasia and rudimentary uterus (see <a href="/entry/277000">277000</a>) in 2 of 4 female mutation carriers suggested that additional clinical features are associated with TCF2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484768" 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 affected members of the families reported by <a href="#18" class="mim-tip-reference" title="Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney: a new entity?&lt;/strong&gt; Clin. Nephrol. 18: 263-268, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151342/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151342&lt;/a&gt;]" pmid="7151342">Rizzoni et al. (1982)</a> and <a href="#11" class="mim-tip-reference" title="Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M. &lt;strong&gt;Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.&lt;/strong&gt; Am. J. Med. Genet. 34: 569-573, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2624270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2624270&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320340423&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2624270">Kaplan et al. (1989)</a>, <a href="#3" class="mim-tip-reference" title="Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., van&#x27;t Hoff, W. G., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., Hattersley, A. T. &lt;strong&gt;Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease.&lt;/strong&gt; Am. J. Hum. Genet. 68: 219-224, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11085914/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11085914&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/316945&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11085914">Bingham et al. (2001)</a> identified 2 different heterozygous mutations in the TCF2 gene (<a href="/entry/189907#0004">189907.0004</a> and <a href="/entry/189907#0005">189907.0005</a>, respectively). <a href="#3" class="mim-tip-reference" title="Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., van&#x27;t Hoff, W. G., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., Hattersley, A. T. &lt;strong&gt;Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease.&lt;/strong&gt; Am. J. Hum. Genet. 68: 219-224, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11085914/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11085914&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/316945&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11085914">Bingham et al. (2001)</a> concluded that hypoplastic glomerulocystic kidney disease is part of the clinical spectrum of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7151342+11085914+2624270" 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 7 affected members of a family with renal cysts and diabetes syndrome and hyperuricemic nephropathy, <a href="#4" class="mim-tip-reference" title="Bingham, C., Ellard, S., van&#x27;t Hoff, W. G., Simmonds, H. A., Marinaki, A. M., Badman, M. K., Winocour, P. H., Stride, A., Lockwood, C. R., Nicholls, A. J., Owen, K. R., Spyer, G., Peason, E. R., Hattersley, A. T. &lt;strong&gt;Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1-beta gene mutation.&lt;/strong&gt; Kidney Int. 63: 1645-1651, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12675839/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12675839&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1755.2003.00903.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12675839">Bingham et al. (2003)</a> identified a heterozygous mutation in the TCF2 gene (<a href="/entry/189907#0010">189907.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12675839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bellanne-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.-F., Jadoul, M., Laloi-Michelin, M., Jacquesson, L., Larger, E., Louis, J., Nicolino, M., Subra, J.-F., Wilhem, J.-M., Young, J., Velho, G., Timsit, J. &lt;strong&gt;Large genomic rearrangements in the hepatocyte nuclear factor-1-beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.&lt;/strong&gt; Diabetes 54: 3126-3132, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16249435/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16249435&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2337/diabetes.54.11.3126&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16249435">Bellanne-Chantelot et al. (2005)</a> found molecular alterations of the TCF2 gene in 28 (70%) of 40 unrelated patients with a clinical phenotype consistent with MODY5. Point mutations were identified in 18 of the 28 patients and 10 had gross genomic rearrangements, which in 9 patients involved a deletion of at least 1.2 Mb, delimited by the TCF2 and TRIP3 (<a href="/entry/604500">604500</a>) genes and encompassing 7 other genes and 2 predicted proteins; 1 patient had a single-exon deletion of exon 5. Patients with mutations and patients with large deletions had a similar phenotype, whereas a different clinical profile was seen in patients with no detected abnormality of TCF2 despite a suggestive phenotype: the latter patients were older and had a higher BMI at diagnosis, less often required insulin therapy or had liver test abnormalities, were more likely to report a family history of diabetes, and in all but 1 patient the renal morphologic abnormalities were restricted to the presence of cysts. In patients with TCF2 alterations, various genital tract abnormalities were found in 80% of the patients tested. <a href="#2" class="mim-tip-reference" title="Bellanne-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.-F., Jadoul, M., Laloi-Michelin, M., Jacquesson, L., Larger, E., Louis, J., Nicolino, M., Subra, J.-F., Wilhem, J.-M., Young, J., Velho, G., Timsit, J. &lt;strong&gt;Large genomic rearrangements in the hepatocyte nuclear factor-1-beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.&lt;/strong&gt; Diabetes 54: 3126-3132, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16249435/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16249435&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2337/diabetes.54.11.3126&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16249435">Bellanne-Chantelot et al. (2005)</a> concluded that large genomic rearrangements of TCF2 can cause MODY5 and that whole-gene deletion is the most frequent molecular alteration in MODY5 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16249435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Edghill, E. L., Bingham, C., Ellard, S., Hattersley, A. T. &lt;strong&gt;Mutations in hepatocyte nuclear factor-1-beta and their related phenotypes.&lt;/strong&gt; J. Med. Genet. 43: 84-90, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15930087/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15930087&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15930087[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.032854&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15930087">Edghill et al. (2006)</a> stated that a total of 40 mutations in the TCF2 gene had been reported, with the majority occurring in the first 4 exons, particularly in exon 2. They found no clear genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
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<strong>Cytogenetics</strong>
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<p>In 155 autopsy samples from fetuses with well-defined developmental pathologies, <a href="#13" class="mim-tip-reference" title="Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H. H., Tommerup, N., Eichler, E. E., Bellanne-Chantelot, C. &lt;strong&gt;Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1057-1069, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17924346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17924346&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17924346[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522591&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17924346">Mefford et al. (2007)</a> studied chromosomal regions predisposed to recurrent rearrangements and identified a fetus with multicystic dysplastic kidneys and a 1.8-Mb deletion encompassing the TCF2 gene on chromosome 17q12 (see <a href="/entry/614517">614517</a>). Oligonucleotide array analysis of deletion breakpoints in 8 patients known to have deletions encompassing the TCF2 gene, including 5 patients with pediatric renal disease without diabetes and 3 patients with MODY5, revealed that 4 of the 5 pediatric patients and all 3 of the MODY5 patients had deletions 'nearly identical' to that of the fetal case, with breakpoints in all cases mapping to flanking segmental-duplication blocks. The deletion was not found in a control group of 960 unrelated Caucasian individuals. <a href="#13" class="mim-tip-reference" title="Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H. H., Tommerup, N., Eichler, E. E., Bellanne-Chantelot, C. &lt;strong&gt;Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1057-1069, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17924346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17924346&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17924346[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522591&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17924346">Mefford et al. (2007)</a> concluded that 17q12 deletion is a recurrent genomic disorder with breakpoints in flanking segmental duplications that results in renal disease and diabetes. The authors also identified the reciprocal duplication (see <a href="/entry/614516">614516</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17924346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Nagamani, S. C., Erez, A., Shen, J., Li, C., Roeder, E., Cox, S., Karaviti, L., Pearson, M., Kang, S.-H. L., Sahoo, T., Lalani, S. R., Stankiewicz, P., Sutton, V. R., Cheung, S. W. &lt;strong&gt;Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.&lt;/strong&gt; Europ. J. Hum. Genet. 18: 278-284, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19844256/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19844256&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19844256[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2009.174&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19844256">Nagamani et al. (2010)</a> studied 9 patients with genomic rearrangements in chromosome 17q12, including 4 patients with a deletion, of whom 2 had cystic renal disease with preserved renal function, 1 had multicystic renal dysplasia and a nonfunctioning right kidney, and 1 had renal agenesis and end-stage renal disease treated with a renal transplant. All 4 patients had short stature; 3 had features suggestive of central nervous system involvement, ranging from speech delay to moderately severe mental retardation, and 2 of those patients had complex partial seizures. The 4 patients were all in the first 2 decades of life, and only 1 had been diagnosed with diabetes, which was post-renal transplant drug-induced diabetes. The deletions in all 4 patients encompassed a minimum of 1.06 Mb, extending from the LHX1 gene (<a href="/entry/601999">601999</a>) to LOC28400, and a maximum of 2.46 Mb, extending from the CCL3L3 gene (<a href="/entry/609468">609468</a>) to the SNIP gene (<a href="/entry/610786">610786</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19844256" 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="#12" class="mim-tip-reference" title="Lindner, T. H., Njolstad, P. R., Horikawa, Y., Bostad, L., Bell, G. I., Sovik, O. &lt;strong&gt;A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta.&lt;/strong&gt; Hum. Molec. Genet. 8: 2001-2008, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10484768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10484768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.11.2001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10484768">Lindner et al. (1999)</a> noted that heterozygous mutations in the TCF1 (<a href="/entry/142410">142410</a>) and TCF2 genes can cause MODY3 (<a href="/entry/600496">600496</a>) and MODY5, respectively. In addition to effects on beta-cell function, deficiency of either TCF1 or TCF2 affects renal function. Patients with TCF1 mutations appeared to have lower renal thresholds for glucose (<a href="#14" class="mim-tip-reference" title="Menzel, R., Kaisaki, P. J., Rjasanowski, I., Heinke, P., Kerner, W., Menzel, S. &lt;strong&gt;A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1-alpha (HNF-1-alpha) gene.&lt;/strong&gt; Diabet. Med. 15: 816-820, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9796880/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9796880&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-9136(199810)15:10&lt;816::AID-DIA714&gt;3.0.CO;2-P&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9796880">Menzel et al., 1998</a>) and those with TCF2 mutations seemed especially susceptible to severe renal disease (<a href="#10" class="mim-tip-reference" title="Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I. &lt;strong&gt;Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)&lt;/strong&gt; Nature Genet. 17: 384-385, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9398836/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9398836&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1297-384&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9398836">Horikawa et al., 1997</a>; <a href="#17" class="mim-tip-reference" title="Nishigori, H., Yamada, S., Kohama, T., Tomura, H., Sho, K., Horikawa, Y., Bell, G. I., Takeuchi, T., Takeda, J. &lt;strong&gt;Frameshift mutation, A26fsinsGG, in the hepatocyte nuclear factor-1-beta gene associated with diabetes and renal dysfunction.&lt;/strong&gt; Diabetes 47: 1354-1355, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9703339/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9703339&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2337/diab.47.8.1354&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9703339">Nishigori et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10484768+9703339+9398836+9796880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p><a href="#19" class="mim-tip-reference" title="Sharp, C. K., Bergman, S. M., Stockwin, J. M., Robbin, M. L., Galliani, C., Guay-Woodford, L. M. &lt;strong&gt;Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.&lt;/strong&gt; J. Am. Soc. Nephrol. 8: 77-84, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9013451/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9013451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1681/ASN.V8177&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9013451">Sharp et al. (1997)</a> reported a 3-generation African American family in which 7 affected individuals out of 20 available for study were identified by renal sonogram or renal histopathology. GCKD in this family was transmitted as an autosomal dominant trait as evidenced by its apparent transmission from a father to his sons. Linkage analysis excluded the PKD1 (<a href="/entry/601313">601313</a>) and PKD2 (<a href="/entry/613095">613095</a>) loci on chromosomes 16 and 4, respectively. <a href="#19" class="mim-tip-reference" title="Sharp, C. K., Bergman, S. M., Stockwin, J. M., Robbin, M. L., Galliani, C., Guay-Woodford, L. M. &lt;strong&gt;Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.&lt;/strong&gt; J. Am. Soc. Nephrol. 8: 77-84, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9013451/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9013451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1681/ASN.V8177&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9013451">Sharp et al. (1997)</a> also excluded linkage markers in the human genome homologous to a mouse cystic kidney locus, jcpk, on 10q21 and 22q11 (<a href="#9" class="mim-tip-reference" title="Flaherty, L., Bryda, E. C., Collins, D., Rudofsky, U., Montgomery, J. C. &lt;strong&gt;New mouse model for polycystic kidney disease with both recessive and dominant gene effects.&lt;/strong&gt; Kidney Int. 47: 552-558, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7723240/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7723240&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ki.1995.69&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7723240">Flaherty et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7723240+9013451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Bellanne-Chantelot2004" class="mim-anchor"></a>
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<p class="mim-text-font">
Bellanne-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noel, L.-H., Velho, G., Timsit, J.
<strong>Clinical spectrum associated with hepatocyte nuclear factor-1B mutations.</strong>
Ann. Intern. Med. 140: 510-517, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15068978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15068978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15068978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-140-7-200404060-00009" target="_blank">Full Text</a>]
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<a id="Bellanne-Chantelot2005" class="mim-anchor"></a>
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Bellanne-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.-F., Jadoul, M., Laloi-Michelin, M., Jacquesson, L., Larger, E., Louis, J., Nicolino, M., Subra, J.-F., Wilhem, J.-M., Young, J., Velho, G., Timsit, J.
<strong>Large genomic rearrangements in the hepatocyte nuclear factor-1-beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.</strong>
Diabetes 54: 3126-3132, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16249435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16249435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16249435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2337/diabetes.54.11.3126" target="_blank">Full Text</a>]
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<a id="Bingham2001" class="mim-anchor"></a>
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Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., van't Hoff, W. G., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., Hattersley, A. T.
<strong>Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease.</strong>
Am. J. Hum. Genet. 68: 219-224, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11085914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11085914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11085914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/316945" target="_blank">Full Text</a>]
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<a id="Bingham2003" class="mim-anchor"></a>
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Bingham, C., Ellard, S., van't Hoff, W. G., Simmonds, H. A., Marinaki, A. M., Badman, M. K., Winocour, P. H., Stride, A., Lockwood, C. R., Nicholls, A. J., Owen, K. R., Spyer, G., Peason, E. R., Hattersley, A. T.
<strong>Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1-beta gene mutation.</strong>
Kidney Int. 63: 1645-1651, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12675839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12675839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12675839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1523-1755.2003.00903.x" target="_blank">Full Text</a>]
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<a id="Calabrese1990" class="mim-anchor"></a>
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Calabrese, G., Simmonds, H. A., Cameron, J. S., Davies, P. M.
<strong>Precocious familial gout with reduced fractional urate clearance and normal purine enzymes.</strong>
Quart. J. Med. 75: 441-450, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2388995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2388995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2388995" 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="Devuyst2019" class="mim-anchor"></a>
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Devuyst, O., Olinger, E., Weber, S., Eckardt, K.-U., Kmoch, S., Rampoldi, L., Bleyer, A. J.
<strong>Autosomal dominant tubulointerstitial kidney disease.</strong>
Nat. Rev. Dis. Primers. 5: 60, 2019. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31488840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31488840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31488840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/s41572-019-0109-9" target="_blank">Full Text</a>]
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<a id="Edghill2006" class="mim-anchor"></a>
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Edghill, E. L., Bingham, C., Ellard, S., Hattersley, A. T.
<strong>Mutations in hepatocyte nuclear factor-1-beta and their related phenotypes.</strong>
J. Med. Genet. 43: 84-90, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930087</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15930087[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2005.032854" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Fajans2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fajans, S. S., Bell, G. I., Polonsky, K. S.
<strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong>
New Eng. J. Med. 345: 971-980, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11575290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11575290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11575290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMra002168" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Flaherty1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Flaherty, L., Bryda, E. C., Collins, D., Rudofsky, U., Montgomery, J. C.
<strong>New mouse model for polycystic kidney disease with both recessive and dominant gene effects.</strong>
Kidney Int. 47: 552-558, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7723240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7723240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7723240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ki.1995.69" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Horikawa1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I.
<strong>Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)</strong>
Nature Genet. 17: 384-385, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1297-384" target="_blank">Full Text</a>]
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<a id="Kaplan1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M.
<strong>Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.</strong>
Am. J. Med. Genet. 34: 569-573, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2624270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2624270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2624270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320340423" target="_blank">Full Text</a>]
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<a id="Lindner1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lindner, T. H., Njolstad, P. R., Horikawa, Y., Bostad, L., Bell, G. I., Sovik, O.
<strong>A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta.</strong>
Hum. Molec. Genet. 8: 2001-2008, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/8.11.2001" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Mefford2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H. H., Tommerup, N., Eichler, E. E., Bellanne-Chantelot, C.
<strong>Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.</strong>
Am. J. Hum. Genet. 81: 1057-1069, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17924346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17924346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17924346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17924346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/522591" target="_blank">Full Text</a>]
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<a id="Menzel1998" class="mim-anchor"></a>
<div class="">
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Menzel, R., Kaisaki, P. J., Rjasanowski, I., Heinke, P., Kerner, W., Menzel, S.
<strong>A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1-alpha (HNF-1-alpha) gene.</strong>
Diabet. Med. 15: 816-820, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9796880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9796880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9796880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1096-9136(199810)15:10&lt;816::AID-DIA714&gt;3.0.CO;2-P" target="_blank">Full Text</a>]
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<a id="Nagamani2010" class="mim-anchor"></a>
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Nagamani, S. C., Erez, A., Shen, J., Li, C., Roeder, E., Cox, S., Karaviti, L., Pearson, M., Kang, S.-H. L., Sahoo, T., Lalani, S. R., Stankiewicz, P., Sutton, V. R., Cheung, S. W.
<strong>Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.</strong>
Europ. J. Hum. Genet. 18: 278-284, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19844256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19844256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19844256[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19844256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ejhg.2009.174" target="_blank">Full Text</a>]
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<a id="Nakayama2010" class="mim-anchor"></a>
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Nakayama, M., Nozu, K., Goto, Y., Kamei, K., Ito, S., Sato, H., Emi, M., Nakanishi, K., Tsuchiya, S., Iijima, K.
<strong>HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.</strong>
Pediat. Nephrol. 25: 1073-1079, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20155289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20155289</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20155289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00467-010-1454-9" target="_blank">Full Text</a>]
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<a id="Nishigori1998" class="mim-anchor"></a>
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Nishigori, H., Yamada, S., Kohama, T., Tomura, H., Sho, K., Horikawa, Y., Bell, G. I., Takeuchi, T., Takeda, J.
<strong>Frameshift mutation, A26fsinsGG, in the hepatocyte nuclear factor-1-beta gene associated with diabetes and renal dysfunction.</strong>
Diabetes 47: 1354-1355, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2337/diab.47.8.1354" target="_blank">Full Text</a>]
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<a id="Rizzoni1982" class="mim-anchor"></a>
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<p class="mim-text-font">
Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H.
<strong>Familial hypoplastic glomerulocystic kidney: a new entity?</strong>
Clin. Nephrol. 18: 263-268, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7151342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7151342</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Sharp1997" class="mim-anchor"></a>
<div class="">
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Sharp, C. K., Bergman, S. M., Stockwin, J. M., Robbin, M. L., Galliani, C., Guay-Woodford, L. M.
<strong>Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.</strong>
J. Am. Soc. Nephrol. 8: 77-84, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9013451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9013451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9013451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1681/ASN.V8177" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Sovik2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sovik, O., Sagen, J., Njolstad, P. R., Nyland, H., Myhr, K. M.
<strong>Contributions to the MODY5 phenotype.</strong>
J. Inherit. Metab. Dis. 25: 597-598, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12638944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1023/a:1022051609386" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Thomas2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thomas, R., Sanna-Cherchi, S., Warady, B. A., Furth, S. L., Kaskel, F. J., Gharavi, A. G.
<strong>HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.</strong>
Pediat. Nephrol. 26: 897-903, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21380624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21380624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21380624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00467-011-1826-9" target="_blank">Full Text</a>]
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<span class="mim-text-font">
Cassandra L. Kniffin - updated : 01/26/2021
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Cassandra L. Kniffin - updated : 4/2/2014<br>Marla J. F. O'Neill - updated : 3/14/2012<br>Marla J. F. O'Neill - updated : 4/19/2010<br>Marla J. F. O'Neill - updated : 9/23/2008<br>Victor A. McKusick - updated : 10/15/2007<br>Cassandra L. Kniffin - reorganized : 4/7/2006<br>Victor A. McKusick - updated : 1/23/2001<br>Victor A. McKusick - updated : 3/6/1997
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Creation Date:
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Victor A. McKusick : 11/25/1987
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carol : 02/26/2025
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carol : 11/04/2022<br>alopez : 02/09/2021<br>ckniffin : 01/26/2021<br>carol : 09/05/2019<br>carol : 01/08/2019<br>carol : 08/12/2016<br>carol : 04/08/2014<br>ckniffin : 4/2/2014<br>carol : 12/2/2013<br>carol : 3/14/2012<br>wwang : 5/12/2011<br>terry : 4/19/2010<br>terry : 2/19/2009<br>carol : 9/25/2008<br>carol : 9/23/2008<br>carol : 8/6/2008<br>carol : 1/22/2008<br>alopez : 10/15/2007<br>carol : 4/7/2006<br>ckniffin : 4/5/2006<br>wwang : 2/9/2006<br>terry : 1/10/2006<br>carol : 1/24/2001<br>terry : 1/23/2001<br>terry : 4/30/1999<br>terry : 3/6/1997<br>jamie : 3/4/1997<br>terry : 3/4/1997<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 2/6/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>#</strong> 137920
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RENAL CYSTS AND DIABETES SYNDROME; RCAD
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<em>Alternative titles; symbols</em>
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5<br />
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL<br />
FJHN, ATYPICAL<br />
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 3; ADTKD3<br />
GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE<br />
GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC<br />
CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES<br />
CAKUT WITH DIABETES
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<strong>SNOMEDCT:</strong> 253864004, 609572000; &nbsp;
<strong>ORPHA:</strong> 34149, 93111; &nbsp;
<strong>DO:</strong> 0111101; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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17q12
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Renal cysts and diabetes syndrome
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137920
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Autosomal dominant
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3
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HNF1B
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189907
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that renal cysts and diabetes syndrome (RCAD) is caused by heterozygous mutation in the TCF2 gene (HNF1B; 189907) on chromosome 17q12.</p>
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<strong>Description</strong>
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<p>Renal cysts and diabetes syndrome (RCAD) is an autosomal dominant multisystemic disorder with significant phenotypic heterogeneity. It is characterized by (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, and horseshoe kidney. Some patients with renal disease have hyperuricemic nephropathy with tubulointerstitial changes on biopsy, consistent with autosomal dominant tubulointerstitial kidney disease (ADTKD). Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (Bingham et al., 2001; Fajans et al., 2001; Bellanne-Chantelot et al., 2004; Edghill et al., 2006; summary by Devuyst et al., 2019). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.</p><p>For a discussion of genetic heterogeneity of ADTKD and a discussion of the revised nomenclature of these disorders, see ADTKD1 (162000).</p><p>The renal abnormalities are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Nakayama et al., 2010). </p>
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<strong>Clinical Features</strong>
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<p>Horikawa et al. (1997) reported a Japanese family in which 3 sibs developed MODY at ages 14, 10, and 15 years, respectively. Their mother and maternal uncle developed diabetes at ages 40 and 60, respectively; their father developed diabetes at age 50. A nonspecific nephropathy was described. </p><p>Lindner et al. (1999) reported a Norwegian family with autosomal dominant inheritance of a syndrome comprising mild diabetes and progressive nondiabetic renal disease; 2 of the 4 affected females also had severe genital malformations, consisting of vaginal aplasia and rudimentary uterus (see 277000), but no virilization or hirsutism. </p><p>Sovik et al. (2002) reported follow-up on the family with MODY5 originally reported by Lindner et al. (1999). One of the female patients in that family had dental anomalies with enamel defects, vaginal aplasia, and rudimentary uterus. She developed renal failure necessitating renal transplantation at age 21 years. Postoperative immunosuppressive treatment with cyclosporin A was stopped after 1 year owing to possible neurotoxicity. On continued treatment with steroids, she developed manifest diabetes. Following renal transplantation she developed progressive neurologic symptoms, spastic paraparesis, visual disturbances, ataxia, hearing loss, and 1 epileptic seizure. Neurologic examination indicated multiple lesions in the central nervous system, and cerebrospinal fluid analysis showed elevated IgG and oligoclonal bands, but normal cell count. MRI was normal, but visual, auditory, and somatosensory evoked responses showed pathologic signals. No evidence of viral infection was detected. Overall, the neurologic evaluation showed a progressive multifocal disease compatible with primary progressive multiple sclerosis, although with normal brain MRI. She died at age 27 years. </p><p>Rizzoni et al. (1982) reported 2 Italian sisters with what they termed 'familial hypoplastic glomerulocystic kidney disease.' The kidneys were small, with absence of the renal papillae, and chronic renal failure was observed from the first months of life. The mother had chronic renal failure with similar urographic abnormalities. Kaplan et al. (1989) reported a mother and son with hypoplastic glomerulocystic kidney disease similar to that described by Rizzoni et al. (1982). The kidneys were small, with cysts and abnormal calyces. Both mother and son had proportionate short stature; the mother also had pyloric stenosis and marked prognathism, the latter of which had been described in one of the patients of Rizzoni et al. (1982). Five of the mother's 7 sibs had evidence of cysts on renal ultrasonography. Bingham et al. (2001) reported follow-up on the families described by Rizzoni et al. (1982) and Kaplan et al. (1989). All affected members had small kidneys and renal impairment. Intravenous pyelogram showed absent calyces and irregular, enlarged collecting systems. Renal histology showed cortical cysts with cystic glomeruli and glomerular tufts. All patients developed early-onset diabetes mellitus with onset ranging from 17 to 39 years of age. </p><p>Bingham et al. (2003) reported a family in which 7 individuals had juvenile-onset hyperuricemic nephropathy inherited in an autosomal dominant pattern. Three patients developed early-onset gout at ages 21, 23, and 27 years. Four of the patients developed diabetes at ages 40, 43, 38, and 12 years, 3 had renal cysts or other disorders of renal development, and 2 had small kidneys. All patients showed improved renal function on allopurinol treatment. The family had originally been reported by Calabrese et al. (1990) as part of a large series of patients with hyperuricemia or gout due to subnormal renal tubular clearance of uric acid. </p><p>Bingham et al. (2003) found that 9 unrelated patients with TCF2 mutations had significantly increased mean serum urate levels compared to 18 normal controls and 24 patients with type II diabetes (125853). Moreover, Bingham et al. (2003) found evidence of gout in young females in 3 of 9 other reported families with TCF2 mutations. The findings suggested that hyperuricemia and gout are additional independent features of the renal cysts and diabetes syndrome. </p><p>Bellanne-Chantelot et al. (2004) reported 13 patients from 8 families with renal cysts and diabetes syndrome caused by heterozygous mutations in the TCF2 gene. The patients had various renal abnormalities, including agenesis, dysplasia, and cystic disease. Pancreas atrophy was observed in 5 of 6 probands. Some patients had genital tract abnormalities, including bicornuate uterus, epididymal cysts, and atresia of the vas deferens. Eleven patients had abnormal liver enzyme levels without impaired liver function. Bellanne-Chantelot et al. (2004) concluded that the phenotype caused by mutations in the TCF2 gene encompasses a wide clinical spectrum, and that TCF2 gene mutation analysis is warranted even without a family history of diabetes. </p><p>From a cohort of 160 patients with renal disease of unknown etiology, Edghill et al. (2006) described 23 patients (14%) with heterozygous mutations in the HNF1B (TCF2) gene, 10 of whom had previously been reported. Renal cysts were the most common manifestation, present in 19 (83%) of 23 individuals. Four of these patients had a specific diagnosis of glomerulocystic kidney disease. Although 11 (48%) of 23 patients had diabetes, only 6 (26%) met the minimal MODY diagnostic criteria of families with at least 2 generations of diabetes with at least 1 patient diagnosed under the age of 25 years. Nine probands (39%) had both renal cysts and diabetes. In addition to renal cysts and diabetes, 2 probands (9%) had genital tract malformations; uterus didelphys with single ovary and hemi-uterus, respectively, whereas another female mutation carrier had unexplained primary infertility. Edghill et al. (2006) emphasized the clinical variability of renal disease associated with mutation in the TCF2 gene and noted that MODY is not an essential finding in patients carrying mutations. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Nakayama et al. (2010) identified heterozygous pathogenic HNF1B mutations in 5 (10%) of 50 Japanese children with congenital anomalies of the kidney and urinary tract, including 2 with hypodysplastic kidneys and 3 with unilateral multicystic dysplastic kidneys. No mutations were found in 4 patients with a single kidney. There were 3 whole-gene deletions, 1 truncating mutation, and 1 missense mutation. The clinical spectrum of renal disease was variable, ranging in severity from unilateral disease and normal renal function to bilateral disease necessitating transplant. However, none of the patients had evidence of diabetes. </p><p>Thomas et al. (2011) identified heterozygous pathogenic HNF1B mutations in 4 of 73 children with chronic kidney disease due to renal hypodysplasia. It was not known if the patients with HNF1B mutations had features of diabetes, and Thomas et al. (2011) concluded that they should be followed for extrarenal manifestations. The findings also had implications for genetic counseling. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of RCAD in the family reported by Horikawa et al. (1997) was consistent with autosomal dominant inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 Japanese sibs with a phenotype consistent with RCAD, Horikawa et al. (1997) identified a heterozygous mutation in the TCF2 gene (189907.0001). The sibs developed diabetes mellitus at ages 10 and 15 years, respectively, consistent with a diagnosis of MODY5. Although both parents also had late-onset diabetes, only the mother carried the TCF2 mutation. Horikawa et al. (1997) postulated that the early onset in the children reflected bilineal inheritance of 2 different diabetes susceptibility genes. </p><p>In affected members of a Norwegian family with diabetes and progressive nondiabetic renal disease, Lindner et al. (1999) identified a heterozygous 75-bp deletion in the TCF2 gene (189907.0002). The presence of vaginal aplasia and rudimentary uterus (see 277000) in 2 of 4 female mutation carriers suggested that additional clinical features are associated with TCF2 mutations. </p><p>In affected members of the families reported by Rizzoni et al. (1982) and Kaplan et al. (1989), Bingham et al. (2001) identified 2 different heterozygous mutations in the TCF2 gene (189907.0004 and 189907.0005, respectively). Bingham et al. (2001) concluded that hypoplastic glomerulocystic kidney disease is part of the clinical spectrum of this disorder. </p><p>In 7 affected members of a family with renal cysts and diabetes syndrome and hyperuricemic nephropathy, Bingham et al. (2003) identified a heterozygous mutation in the TCF2 gene (189907.0010). </p><p>Bellanne-Chantelot et al. (2005) found molecular alterations of the TCF2 gene in 28 (70%) of 40 unrelated patients with a clinical phenotype consistent with MODY5. Point mutations were identified in 18 of the 28 patients and 10 had gross genomic rearrangements, which in 9 patients involved a deletion of at least 1.2 Mb, delimited by the TCF2 and TRIP3 (604500) genes and encompassing 7 other genes and 2 predicted proteins; 1 patient had a single-exon deletion of exon 5. Patients with mutations and patients with large deletions had a similar phenotype, whereas a different clinical profile was seen in patients with no detected abnormality of TCF2 despite a suggestive phenotype: the latter patients were older and had a higher BMI at diagnosis, less often required insulin therapy or had liver test abnormalities, were more likely to report a family history of diabetes, and in all but 1 patient the renal morphologic abnormalities were restricted to the presence of cysts. In patients with TCF2 alterations, various genital tract abnormalities were found in 80% of the patients tested. Bellanne-Chantelot et al. (2005) concluded that large genomic rearrangements of TCF2 can cause MODY5 and that whole-gene deletion is the most frequent molecular alteration in MODY5 patients. </p><p>Edghill et al. (2006) stated that a total of 40 mutations in the TCF2 gene had been reported, with the majority occurring in the first 4 exons, particularly in exon 2. They found no clear genotype/phenotype correlations. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 155 autopsy samples from fetuses with well-defined developmental pathologies, Mefford et al. (2007) studied chromosomal regions predisposed to recurrent rearrangements and identified a fetus with multicystic dysplastic kidneys and a 1.8-Mb deletion encompassing the TCF2 gene on chromosome 17q12 (see 614517). Oligonucleotide array analysis of deletion breakpoints in 8 patients known to have deletions encompassing the TCF2 gene, including 5 patients with pediatric renal disease without diabetes and 3 patients with MODY5, revealed that 4 of the 5 pediatric patients and all 3 of the MODY5 patients had deletions 'nearly identical' to that of the fetal case, with breakpoints in all cases mapping to flanking segmental-duplication blocks. The deletion was not found in a control group of 960 unrelated Caucasian individuals. Mefford et al. (2007) concluded that 17q12 deletion is a recurrent genomic disorder with breakpoints in flanking segmental duplications that results in renal disease and diabetes. The authors also identified the reciprocal duplication (see 614516). </p><p>Nagamani et al. (2010) studied 9 patients with genomic rearrangements in chromosome 17q12, including 4 patients with a deletion, of whom 2 had cystic renal disease with preserved renal function, 1 had multicystic renal dysplasia and a nonfunctioning right kidney, and 1 had renal agenesis and end-stage renal disease treated with a renal transplant. All 4 patients had short stature; 3 had features suggestive of central nervous system involvement, ranging from speech delay to moderately severe mental retardation, and 2 of those patients had complex partial seizures. The 4 patients were all in the first 2 decades of life, and only 1 had been diagnosed with diabetes, which was post-renal transplant drug-induced diabetes. The deletions in all 4 patients encompassed a minimum of 1.06 Mb, extending from the LHX1 gene (601999) to LOC28400, and a maximum of 2.46 Mb, extending from the CCL3L3 gene (609468) to the SNIP gene (610786). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lindner et al. (1999) noted that heterozygous mutations in the TCF1 (142410) and TCF2 genes can cause MODY3 (600496) and MODY5, respectively. In addition to effects on beta-cell function, deficiency of either TCF1 or TCF2 affects renal function. Patients with TCF1 mutations appeared to have lower renal thresholds for glucose (Menzel et al., 1998) and those with TCF2 mutations seemed especially susceptible to severe renal disease (Horikawa et al., 1997; Nishigori et al., 1998). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Sharp et al. (1997) reported a 3-generation African American family in which 7 affected individuals out of 20 available for study were identified by renal sonogram or renal histopathology. GCKD in this family was transmitted as an autosomal dominant trait as evidenced by its apparent transmission from a father to his sons. Linkage analysis excluded the PKD1 (601313) and PKD2 (613095) loci on chromosomes 16 and 4, respectively. Sharp et al. (1997) also excluded linkage markers in the human genome homologous to a mouse cystic kidney locus, jcpk, on 10q21 and 22q11 (Flaherty et al., 1995). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bellanne-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noel, L.-H., Velho, G., Timsit, J.
<strong>Clinical spectrum associated with hepatocyte nuclear factor-1B mutations.</strong>
Ann. Intern. Med. 140: 510-517, 2004.
[PubMed: 15068978]
[Full Text: https://doi.org/10.7326/0003-4819-140-7-200404060-00009]
</p>
</li>
<li>
<p class="mim-text-font">
Bellanne-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.-F., Jadoul, M., Laloi-Michelin, M., Jacquesson, L., Larger, E., Louis, J., Nicolino, M., Subra, J.-F., Wilhem, J.-M., Young, J., Velho, G., Timsit, J.
<strong>Large genomic rearrangements in the hepatocyte nuclear factor-1-beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.</strong>
Diabetes 54: 3126-3132, 2005.
[PubMed: 16249435]
[Full Text: https://doi.org/10.2337/diabetes.54.11.3126]
</p>
</li>
<li>
<p class="mim-text-font">
Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., van't Hoff, W. G., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., Hattersley, A. T.
<strong>Mutations in the hepatocyte nuclear factor-1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease.</strong>
Am. J. Hum. Genet. 68: 219-224, 2001.
[PubMed: 11085914]
[Full Text: https://doi.org/10.1086/316945]
</p>
</li>
<li>
<p class="mim-text-font">
Bingham, C., Ellard, S., van't Hoff, W. G., Simmonds, H. A., Marinaki, A. M., Badman, M. K., Winocour, P. H., Stride, A., Lockwood, C. R., Nicholls, A. J., Owen, K. R., Spyer, G., Peason, E. R., Hattersley, A. T.
<strong>Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1-beta gene mutation.</strong>
Kidney Int. 63: 1645-1651, 2003.
[PubMed: 12675839]
[Full Text: https://doi.org/10.1046/j.1523-1755.2003.00903.x]
</p>
</li>
<li>
<p class="mim-text-font">
Calabrese, G., Simmonds, H. A., Cameron, J. S., Davies, P. M.
<strong>Precocious familial gout with reduced fractional urate clearance and normal purine enzymes.</strong>
Quart. J. Med. 75: 441-450, 1990.
[PubMed: 2388995]
</p>
</li>
<li>
<p class="mim-text-font">
Devuyst, O., Olinger, E., Weber, S., Eckardt, K.-U., Kmoch, S., Rampoldi, L., Bleyer, A. J.
<strong>Autosomal dominant tubulointerstitial kidney disease.</strong>
Nat. Rev. Dis. Primers. 5: 60, 2019. Note: Electronic Article.
[PubMed: 31488840]
[Full Text: https://doi.org/10.1038/s41572-019-0109-9]
</p>
</li>
<li>
<p class="mim-text-font">
Edghill, E. L., Bingham, C., Ellard, S., Hattersley, A. T.
<strong>Mutations in hepatocyte nuclear factor-1-beta and their related phenotypes.</strong>
J. Med. Genet. 43: 84-90, 2006.
[PubMed: 15930087]
[Full Text: https://doi.org/10.1136/jmg.2005.032854]
</p>
</li>
<li>
<p class="mim-text-font">
Fajans, S. S., Bell, G. I., Polonsky, K. S.
<strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong>
New Eng. J. Med. 345: 971-980, 2001.
[PubMed: 11575290]
[Full Text: https://doi.org/10.1056/NEJMra002168]
</p>
</li>
<li>
<p class="mim-text-font">
Flaherty, L., Bryda, E. C., Collins, D., Rudofsky, U., Montgomery, J. C.
<strong>New mouse model for polycystic kidney disease with both recessive and dominant gene effects.</strong>
Kidney Int. 47: 552-558, 1995.
[PubMed: 7723240]
[Full Text: https://doi.org/10.1038/ki.1995.69]
</p>
</li>
<li>
<p class="mim-text-font">
Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Iwamoto, Y., Bell, G. I.
<strong>Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. (Letter)</strong>
Nature Genet. 17: 384-385, 1997.
[PubMed: 9398836]
[Full Text: https://doi.org/10.1038/ng1297-384]
</p>
</li>
<li>
<p class="mim-text-font">
Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M.
<strong>Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.</strong>
Am. J. Med. Genet. 34: 569-573, 1989.
[PubMed: 2624270]
[Full Text: https://doi.org/10.1002/ajmg.1320340423]
</p>
</li>
<li>
<p class="mim-text-font">
Lindner, T. H., Njolstad, P. R., Horikawa, Y., Bostad, L., Bell, G. I., Sovik, O.
<strong>A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1-beta.</strong>
Hum. Molec. Genet. 8: 2001-2008, 1999.
[PubMed: 10484768]
[Full Text: https://doi.org/10.1093/hmg/8.11.2001]
</p>
</li>
<li>
<p class="mim-text-font">
Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H. H., Tommerup, N., Eichler, E. E., Bellanne-Chantelot, C.
<strong>Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.</strong>
Am. J. Hum. Genet. 81: 1057-1069, 2007.
[PubMed: 17924346]
[Full Text: https://doi.org/10.1086/522591]
</p>
</li>
<li>
<p class="mim-text-font">
Menzel, R., Kaisaki, P. J., Rjasanowski, I., Heinke, P., Kerner, W., Menzel, S.
<strong>A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1-alpha (HNF-1-alpha) gene.</strong>
Diabet. Med. 15: 816-820, 1998.
[PubMed: 9796880]
[Full Text: https://doi.org/10.1002/(SICI)1096-9136(199810)15:10&lt;816::AID-DIA714&gt;3.0.CO;2-P]
</p>
</li>
<li>
<p class="mim-text-font">
Nagamani, S. C., Erez, A., Shen, J., Li, C., Roeder, E., Cox, S., Karaviti, L., Pearson, M., Kang, S.-H. L., Sahoo, T., Lalani, S. R., Stankiewicz, P., Sutton, V. R., Cheung, S. W.
<strong>Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.</strong>
Europ. J. Hum. Genet. 18: 278-284, 2010.
[PubMed: 19844256]
[Full Text: https://doi.org/10.1038/ejhg.2009.174]
</p>
</li>
<li>
<p class="mim-text-font">
Nakayama, M., Nozu, K., Goto, Y., Kamei, K., Ito, S., Sato, H., Emi, M., Nakanishi, K., Tsuchiya, S., Iijima, K.
<strong>HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.</strong>
Pediat. Nephrol. 25: 1073-1079, 2010.
[PubMed: 20155289]
[Full Text: https://doi.org/10.1007/s00467-010-1454-9]
</p>
</li>
<li>
<p class="mim-text-font">
Nishigori, H., Yamada, S., Kohama, T., Tomura, H., Sho, K., Horikawa, Y., Bell, G. I., Takeuchi, T., Takeda, J.
<strong>Frameshift mutation, A26fsinsGG, in the hepatocyte nuclear factor-1-beta gene associated with diabetes and renal dysfunction.</strong>
Diabetes 47: 1354-1355, 1998.
[PubMed: 9703339]
[Full Text: https://doi.org/10.2337/diab.47.8.1354]
</p>
</li>
<li>
<p class="mim-text-font">
Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H.
<strong>Familial hypoplastic glomerulocystic kidney: a new entity?</strong>
Clin. Nephrol. 18: 263-268, 1982.
[PubMed: 7151342]
</p>
</li>
<li>
<p class="mim-text-font">
Sharp, C. K., Bergman, S. M., Stockwin, J. M., Robbin, M. L., Galliani, C., Guay-Woodford, L. M.
<strong>Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.</strong>
J. Am. Soc. Nephrol. 8: 77-84, 1997.
[PubMed: 9013451]
[Full Text: https://doi.org/10.1681/ASN.V8177]
</p>
</li>
<li>
<p class="mim-text-font">
Sovik, O., Sagen, J., Njolstad, P. R., Nyland, H., Myhr, K. M.
<strong>Contributions to the MODY5 phenotype.</strong>
J. Inherit. Metab. Dis. 25: 597-598, 2002.
[PubMed: 12638944]
[Full Text: https://doi.org/10.1023/a:1022051609386]
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, R., Sanna-Cherchi, S., Warady, B. A., Furth, S. L., Kaskel, F. J., Gharavi, A. G.
<strong>HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.</strong>
Pediat. Nephrol. 26: 897-903, 2011.
[PubMed: 21380624]
[Full Text: https://doi.org/10.1007/s00467-011-1826-9]
</p>
</li>
</ol>
<div>
<br />
</div>
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Cassandra L. Kniffin - updated : 01/26/2021<br>Cassandra L. Kniffin - updated : 4/2/2014<br>Marla J. F. O&#x27;Neill - updated : 3/14/2012<br>Marla J. F. O&#x27;Neill - updated : 4/19/2010<br>Marla J. F. O&#x27;Neill - updated : 9/23/2008<br>Victor A. McKusick - updated : 10/15/2007<br>Cassandra L. Kniffin - reorganized : 4/7/2006<br>Victor A. McKusick - updated : 1/23/2001<br>Victor A. McKusick - updated : 3/6/1997
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