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<meta name="keywords" content="C4303593, dend (developmental delay, epilepsy, neonatal diabetes) syndrome, dend syndrome, developmental delay, epilepsy, neonatal diabetes syndrome, developmental delay-epilepsy-neonatal diabetes syndrome, disease or syndrome, k atp associated developmental delay, epilepsy and neonatal diabetes, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=929262
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ConceptID=C4303593
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">DEND syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>929262</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4303593</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DEND (developmental delay, epilepsy, neonatal diabetes) syndrome; Developmental delay, epilepsy, neonatal diabetes syndrome; Developmental delay-epilepsy-neonatal diabetes syndrome; developmental delay-epilepsy-neonatal diabetes syndrome; K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes; K ATP associated developmental delay, epilepsy and neonatal diabetes</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Developmental delay, epilepsy, neonatal diabetes syndrome (721088003); DEND syndrome (721088003); DEND (developmental delay, epilepsy, neonatal diabetes) syndrome (721088003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019207" target="_blank">MONDO:0019207</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79134">ORPHA79134</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">DEND syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/14214" ref="tree=MeSH" title="MedGen record for Brain disorder">Brain disorder</a></span><ul><li><span class="TLline"><a href="/medgen/4506" ref="tree=MeSH" title="MedGen record for Epilepsy">Epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/1371141" ref="tree=MeSH" title="MedGen record for Epilepsy syndrome">Epilepsy syndrome</a></span><ul><li><span class="matched_ds">DEND syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32893419">Genotype-phenotype correlation of K(ATP) channel gene defects causing permanent neonatal diabetes in Indian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gopi S,
|
||
Kavitha B,
|
||
Kanthimathi S,
|
||
Kannan A,
|
||
Kumar R,
|
||
Joshi R,
|
||
Kanodia S,
|
||
Arya AD,
|
||
Pendsey S,
|
||
Pendsey S,
|
||
Raghupathy P,
|
||
Mohan V,
|
||
Radha V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2021 Feb;22(1):82-92.
|
||
Epub 2020 Sep 15
|
||
doi: 10.1111/pedi.13109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32893419" target="_blank">32893419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31250216">Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Letourneau LR,
|
||
Greeley SAW</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2019 Jun 27;19(8):52.
|
||
doi: 10.1007/s11892-019-1175-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31250216" target="_blank">31250216</a><a href="/pmc/articles/PMC6894166" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16019717">Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slingerland AS,
|
||
Hattersley AT</span><br />
|
||
<span class="medgenPMjournal">Ann Med</span>
|
||
2005;37(3):186-95.
|
||
doi: 10.1080/07853890510007287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16019717" target="_blank">16019717</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22dend%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33663443">Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Lee Y,
|
||
Choi Y,
|
||
Kim GH,
|
||
Yoo HW,
|
||
Choi JH</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2021 Mar 4;21(1):108.
|
||
doi: 10.1186/s12887-021-02575-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33663443" target="_blank">33663443</a><a href="/pmc/articles/PMC7931559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279225">Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao L,
|
||
He Y,
|
||
Huang Q,
|
||
Zhang Y,
|
||
Deng P,
|
||
Du W,
|
||
Hua Z,
|
||
Zhu M,
|
||
Wei H</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2020 Jul;69(1):53-62.
|
||
Epub 2020 Apr 11
|
||
doi: 10.1007/s12020-020-02279-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279225" target="_blank">32279225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28943513">Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evliyaoğlu O,
|
||
Ercan O,
|
||
Ataoğlu E,
|
||
Zübarioğlu Ü,
|
||
Özcabı B,
|
||
Dağdeviren A,
|
||
Erdoğan H,
|
||
De Franco E,
|
||
Ellard S</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2018 Jun 1;10(2):168-174.
|
||
Epub 2017 Sep 25
|
||
doi: 10.4274/jcrpe.5162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28943513" target="_blank">28943513</a><a href="/pmc/articles/PMC5985387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20033705">Human K(ATP) channelopathies: diseases of metabolic homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olson TM,
|
||
Terzic A</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2010 Jul;460(2):295-306.
|
||
Epub 2009 Dec 24
|
||
doi: 10.1007/s00424-009-0771-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20033705" target="_blank">20033705</a><a href="/pmc/articles/PMC2883927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16609879">Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flanagan SE,
|
||
Edghill EL,
|
||
Gloyn AL,
|
||
Ellard S,
|
||
Hattersley AT</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2006 Jun;49(6):1190-7.
|
||
Epub 2006 Apr 12
|
||
doi: 10.1007/s00125-006-0246-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16609879" target="_blank">16609879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DEND%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28666500">Permanent Neonatal Diabetes (DEND Syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan SA,
|
||
Parkash A,
|
||
Ibrahim M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2016 Nov;26(11):114-115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28666500" target="_blank">28666500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24912436">Neonatal diabetes with intractable epilepsy: DEND syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh P,
|
||
Rao SC,
|
||
Parikh R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2014 Dec;81(12):1387-8.
|
||
Epub 2014 Jun 10
|
||
doi: 10.1007/s12098-014-1486-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24912436" target="_blank">24912436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22145471">AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sang Y,
|
||
Ni G,
|
||
Gu Y,
|
||
Liu M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2011;24(9-10):763-6.
|
||
doi: 10.1515/jpem.2011.258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22145471" target="_blank">22145471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18566517">The K(ATP) channel and neonatal diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimomura K</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2009;56(2):165-75.
|
||
Epub 2008 Jun 20
|
||
doi: 10.1507/endocrj.k08e-160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18566517" target="_blank">18566517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15864298">A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Proks P,
|
||
Girard C,
|
||
Haider S,
|
||
Gloyn AL,
|
||
Hattersley AT,
|
||
Sansom MS,
|
||
Ashcroft FM</span><br />
|
||
<span class="medgenPMjournal">EMBO Rep</span>
|
||
2005 May;6(5):470-5.
|
||
doi: 10.1038/sj.embor.7400393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15864298" target="_blank">15864298</a><a href="/pmc/articles/PMC1299303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DEND%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35648253">Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tikhonovich Y,
|
||
Petryaykina E,
|
||
Zubkova N,
|
||
Garyaeva I,
|
||
Tiulpakov A</span><br />
|
||
<span class="medgenPMjournal">Acta Diabetol</span>
|
||
2022 Sep;59(9):1251-1253.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1007/s00592-022-01904-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35648253" target="_blank">35648253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28666500">Permanent Neonatal Diabetes (DEND Syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan SA,
|
||
Parkash A,
|
||
Ibrahim M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2016 Nov;26(11):114-115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28666500" target="_blank">28666500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24912436">Neonatal diabetes with intractable epilepsy: DEND syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh P,
|
||
Rao SC,
|
||
Parikh R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2014 Dec;81(12):1387-8.
|
||
Epub 2014 Jun 10
|
||
doi: 10.1007/s12098-014-1486-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24912436" target="_blank">24912436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19686306">Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohamadi A,
|
||
Clark LM,
|
||
Lipkin PH,
|
||
Mahone EM,
|
||
Wodka EL,
|
||
Plotnick LP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2010 May;11(3):203-7.
|
||
Epub 2009 Jul 21
|
||
doi: 10.1111/j.1399-5448.2009.00548.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19686306" target="_blank">19686306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18566517">The K(ATP) channel and neonatal diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimomura K</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2009;56(2):165-75.
|
||
Epub 2008 Jun 20
|
||
doi: 10.1507/endocrj.k08e-160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18566517" target="_blank">18566517</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DEND%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28943513">Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evliyaoğlu O,
|
||
Ercan O,
|
||
Ataoğlu E,
|
||
Zübarioğlu Ü,
|
||
Özcabı B,
|
||
Dağdeviren A,
|
||
Erdoğan H,
|
||
De Franco E,
|
||
Ellard S</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2018 Jun 1;10(2):168-174.
|
||
Epub 2017 Sep 25
|
||
doi: 10.4274/jcrpe.5162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28943513" target="_blank">28943513</a><a href="/pmc/articles/PMC5985387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28666500">Permanent Neonatal Diabetes (DEND Syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan SA,
|
||
Parkash A,
|
||
Ibrahim M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2016 Nov;26(11):114-115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28666500" target="_blank">28666500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27849623">Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozsu E,
|
||
Giri D,
|
||
Seymen Karabulut G,
|
||
Senniappan S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2016 Dec 1;29(12):1403-1406.
|
||
doi: 10.1515/jpem-2016-0149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27849623" target="_blank">27849623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20033705">Human K(ATP) channelopathies: diseases of metabolic homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olson TM,
|
||
Terzic A</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2010 Jul;460(2):295-306.
|
||
Epub 2009 Dec 24
|
||
doi: 10.1007/s00424-009-0771-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20033705" target="_blank">20033705</a><a href="/pmc/articles/PMC2883927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17890419">Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahi-Buisson N,
|
||
Eisermann M,
|
||
Nivot S,
|
||
Bellanné-Chantelot C,
|
||
Dulac O,
|
||
Bach N,
|
||
Plouin P,
|
||
Chiron C,
|
||
de Lonlay P</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2007 Sep;22(9):1147-50.
|
||
doi: 10.1177/0883073807306272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17890419" target="_blank">17890419</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DEND%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20033705">Human K(ATP) channelopathies: diseases of metabolic homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olson TM,
|
||
Terzic A</span><br />
|
||
<span class="medgenPMjournal">Pflugers Arch</span>
|
||
2010 Jul;460(2):295-306.
|
||
Epub 2009 Dec 24
|
||
doi: 10.1007/s00424-009-0771-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20033705" target="_blank">20033705</a><a href="/pmc/articles/PMC2883927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19169493">Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Della Manna T,
|
||
Battistim C,
|
||
Radonsky V,
|
||
Savoldelli RD,
|
||
Damiani D,
|
||
Kok F,
|
||
Pearson ER,
|
||
Ellard S,
|
||
Hattersley AT,
|
||
Reis AF</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Endocrinol Metabol</span>
|
||
2008 Nov;52(8):1350-5.
|
||
doi: 10.1590/s0004-27302008000800024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19169493" target="_blank">19169493</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DEND%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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