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<meta name="keywords" content="C1833104, abcc8, abcc8-related permanent neonatal diabetes mellitus, developmental delay, epilepsy, and neonatal diabetes, diabetes mellitus, permanent neonatal, diabetes mellitus, permanent neonatal, with neurologic features, diabetes mellitus, permanent, of infancy, disease or syndrome, gck, ins, ins-related permanent neonatal diabetes mellitus, isolated permanent neonatal diabetes mellitus, isolated pndm, kcnj11, kcnj11-related permanent neonatal diabetes mellitus, monogenic diabetes of infancy, pdmi, pdx1, pdx1-related permanent neonatal diabetes mellitus, permanent diabetes mellitus of infancy, permanent neonatal diabetes mellitus, pndm, 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="Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to age 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and history of intrauterine growth deficiency. Therapy with insulin and/or oral hypoglycemic medications (in some molecular causes of PNDM) can correct the hyperglycemia and result in dramatic catch-up growth. The course of PNDM varies by genotype." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=371484
|
||
ConceptID=C1833104
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Permanent neonatal diabetes mellitus<span class="h1sub">(PNDM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371484</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.">C1833104</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>ABCC8-Related Permanent Neonatal Diabetes Mellitus; INS-Related Permanent Neonatal Diabetes Mellitus; KCNJ11-Related Permanent Neonatal Diabetes Mellitus; PDX1-Related Permanent Neonatal Diabetes Mellitus; Permanent diabetes mellitus of infancy; PNDM</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Permanent diabetes mellitus of infancy (609565001); Permanent neonatal diabetes mellitus (609565001)</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="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></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ABCC8 - ID: 6833 - NCBI Gene" href="/gene/6833" class="medgenPMinfo">ABCC8</a> (11p15.1); <a target="_blank" title="GCK - ID: 2645 - NCBI Gene" href="/gene/2645" class="medgenPMinfo">GCK</a> (7p13); <a target="_blank" title="INS - ID: 3630 - NCBI Gene" href="/gene/3630" class="medgenPMinfo">INS</a> (11p15.5); <a target="_blank" title="KCNJ11 - ID: 3767 - NCBI Gene" href="/gene/3767" class="medgenPMinfo">KCNJ11</a> (11p15.1); <a target="_blank" title="PDX1 - ID: 3651 - NCBI Gene" href="/gene/3651" class="medgenPMinfo">PDX1</a> (13q12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100164" target="_blank">MONDO:0100164</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS606176" target="_blank">PS606176</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=99885">ORPHA99885</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1447" target="_blank">Permanent Neonatal Diabetes Mellitus</a></div><div>Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to age 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and history of intrauterine growth deficiency. Therapy with insulin and/or oral hypoglycemic medications (in some molecular causes of PNDM) can correct the hyperglycemia and result in dramatic catch-up growth. The course of PNDM varies by genotype. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1447#dmn.Summary" target="NBK1447">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Diagnosis" target="NBK1447">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Clinical_Characteristics" target="NBK1447">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Genetically_Related_Allelic_Disorder" target="NBK1447">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Differential_Diagnosis" target="NBK1447">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Management" target="NBK1447">Management</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Genetic_Counseling" target="NBK1447">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Resources" target="NBK1447">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Molecular_Genetics" target="NBK1447">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.Chapter_Notes" target="NBK1447">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1447#dmn.References" target="NBK1447">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Diva D De León | Sara E Pinney <a href="/books/NBK1447" target="NBK1447" title="NCBI Bookshelf: Permanent Neonatal Diabetes Mellitus">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.<br /><br />A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.<br /><br />Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).<br /><br />In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus">https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0158981[DISCUI]&test_type=Clinical" ref="ncbi_uid=57645">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=57645" ref="ncbi_uid=57645">V</a></span></span><span class="TLline"><a href="/medgen/57645" ref="tree=GTR&ncbi_uid=57645&link_uid=57645" title="View MedGen record for 'Neonatal diabetes mellitus'">Neonatal diabetes mellitus</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833104[DISCUI]&test_type=Clinical" ref="ncbi_uid=371484">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1447/" ref="ncbi_uid=371484">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371484" ref="ncbi_uid=371484">V</a></span></span><span class="TLline">Permanent neonatal diabetes mellitus</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864623[DISCUI]&test_type=Clinical" ref="ncbi_uid=351177">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351177" target="_blank" href="/omim/600937">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351177" ref="ncbi_uid=351177">V</a></span></span><span class="TLline"><a href="/medgen/351177" ref="tree=GTR&ncbi_uid=351177&link_uid=351177" title="View MedGen record for 'Diabetes mellitus, transient neonatal, 3'">Diabetes mellitus, transient neonatal, 3</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/340009" ref="tree=GTR&ncbi_uid=340009&link_uid=340009" title="View MedGen record for 'Developmental delay, epilepsy, and neonatal diabetes'">Developmental delay, epilepsy, and neonatal diabetes</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3891828[DISCUI]&test_type=Clinical" ref="ncbi_uid=856095">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=856095" target="_blank" href="/omim/260370">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=856095" ref="ncbi_uid=856095">V</a></span></span><span class="TLline"><a href="/medgen/856095" ref="tree=GTR&ncbi_uid=856095&link_uid=856095" title="View MedGen record for 'Pancreatic agenesis 1'">Pancreatic agenesis 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325072" target="_blank" href="/omim/600089">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325072" ref="ncbi_uid=325072">V</a></span></span><span class="TLline"><a href="/medgen/325072" ref="tree=GTR&ncbi_uid=325072&link_uid=325072" title="View MedGen record for 'Pancreatic beta cell agenesis with neonatal diabetes mellitus'">Pancreatic beta cell agenesis with neonatal diabetes mellitus</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342273[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=449530">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=449530" ref="ncbi_uid=449530">V</a></span></span><span class="TLline"><a href="/medgen/449530" ref="tree=GTR&ncbi_uid=449530&link_uid=449530" title="View MedGen record for 'Transitory neonatal diabetes mellitus'">Transitory neonatal diabetes mellitus</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832386[DISCUI]&test_type=Clinical" ref="ncbi_uid=371317">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371317" target="_blank" href="/omim/601410">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1534/" ref="ncbi_uid=371317">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371317" ref="ncbi_uid=371317">V</a></span></span><span class="TLline"><a href="/medgen/371317" ref="tree=GTR&ncbi_uid=371317&link_uid=371317" title="View MedGen record for 'Diabetes mellitus, transient neonatal, 1'">Diabetes mellitus, transient neonatal, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835887[DISCUI]&test_type=Clinical" ref="ncbi_uid=372150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372150" target="_blank" href="/omim/600509">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372150" ref="ncbi_uid=372150">V</a></span></span><span class="TLline"><a href="/medgen/372150" ref="tree=GTR&ncbi_uid=372150&link_uid=372150" title="View MedGen record for 'Diabetes mellitus, transient neonatal, 2'">Diabetes mellitus, transient neonatal, 2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><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/4043" ref="tree=MeSH" title="MedGen record for Disorder of endocrine system">Disorder of endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/8350" ref="tree=MeSH" title="MedGen record for Diabetes mellitus">Diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/417694" ref="tree=MeSH" title="MedGen record for Childhood Diabetes Mellitus">Childhood Diabetes Mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/57645" ref="tree=MeSH" title="MedGen record for Neonatal diabetes mellitus">Neonatal diabetes mellitus</a></span><ul><li><span class="matched_ds">Permanent neonatal diabetes mellitus</span><ul><li><span class="TLline"><a href="/medgen/351177" ref="tree=MeSH" title="MedGen record for Diabetes mellitus, transient neonatal, 3">Diabetes mellitus, transient neonatal, 3</a></span><ul><li><span class="TLline"><a href="/medgen/340009" ref="tree=MeSH" title="MedGen record for Developmental delay, epilepsy, and neonatal diabetes">Developmental delay, epilepsy, and neonatal diabetes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856095" ref="tree=MeSH" title="MedGen record for Pancreatic agenesis 1">Pancreatic agenesis 1</a></span></li><li><span class="TLline"><a href="/medgen/325072" ref="tree=MeSH" title="MedGen record for Pancreatic beta cell agenesis with neonatal diabetes mellitus">Pancreatic beta cell agenesis with neonatal diabetes mellitus</a></span></li></ul></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/32539915">Recent clinical advances of glucokinase activators in the treatment of diabetes mellitus type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li W,
|
||
Zhang X,
|
||
Sun Y,
|
||
Liu Z</span><br />
|
||
<span class="medgenPMjournal">Pharmazie</span>
|
||
2020 Jun 1;75(6):230-235.
|
||
doi: 10.1691/ph.2020.0409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32539915" target="_blank">32539915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21054355">Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubio-Cabezas O,
|
||
Klupa T,
|
||
Malecki MT;
|
||
CEED3 Consortium</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
2011 Mar;41(3):323-33.
|
||
Epub 2010 Nov 4
|
||
doi: 10.1111/j.1365-2362.2010.02409.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21054355" target="_blank">21054355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16816952">Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonini G,
|
||
Bizzarri C,
|
||
Bonfanti R,
|
||
Vanelli M,
|
||
Cerutti F,
|
||
Faleschini E,
|
||
Meschi F,
|
||
Prisco F,
|
||
Ciacco E,
|
||
Cappa M,
|
||
Torelli C,
|
||
Cauvin V,
|
||
Tumini S,
|
||
Iafusco D,
|
||
Barbetti F;
|
||
Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2006 Sep;49(9):2210-3.
|
||
Epub 2006 Jul 1
|
||
doi: 10.1007/s00125-006-0329-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16816952" target="_blank">16816952</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22permanent%20neonatal%20diabetes%20mellitus%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 (11)</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/35809554">Very low birth weight newborn with diabetes mellitus due to pancreas agenesis managed with insulin pump reservoir filled with undiluted insulin: 16-month follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zanfardino A,
|
||
Piscopo A,
|
||
Curto S,
|
||
Schiaffini R,
|
||
Rollato AS,
|
||
Testa V,
|
||
Miraglia Del Giudice E,
|
||
Barbetti F,
|
||
Iafusco D</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Syndr</span>
|
||
2022 Jul;16(7):102561.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1016/j.dsx.2022.102561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35809554" target="_blank">35809554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33986015">Long-term follow-up of a child with Wolcott-Rallison syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah N,
|
||
Karguppikar MB,
|
||
Khadilkar V,
|
||
Khadilkar A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 May 13;14(5)
|
||
doi: 10.1136/bcr-2021-242376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33986015" target="_blank">33986015</a><a href="/pmc/articles/PMC8126271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31588541">Monogenic Forms of Diabetes Mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaál Z,
|
||
Balogh I</span><br />
|
||
<span class="medgenPMjournal">Exp Suppl</span>
|
||
2019;111:385-416.
|
||
doi: 10.1007/978-3-030-25905-1_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31588541" target="_blank">31588541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27555491">ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landmeier KA,
|
||
Lanning M,
|
||
Carmody D,
|
||
Greeley SAW,
|
||
Msall ME</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2017 Nov;18(7):518-523.
|
||
Epub 2016 Aug 24
|
||
doi: 10.1111/pedi.12428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27555491" target="_blank">27555491</a><a href="/pmc/articles/PMC5720354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21871684">Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo C,
|
||
Salina A,
|
||
Aloi C,
|
||
Iafusco D,
|
||
Lorini R,
|
||
d'Annunzio G</span><br />
|
||
<span class="medgenPMjournal">Diabetes Res Clin Pract</span>
|
||
2011 Nov;94(2):e50-2.
|
||
Epub 2011 Aug 25
|
||
doi: 10.1016/j.diabres.2011.07.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21871684" target="_blank">21871684</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Permanent%20neonatal%20diabetes%20mellitus%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 (31)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33986015">Long-term follow-up of a child with Wolcott-Rallison syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah N,
|
||
Karguppikar MB,
|
||
Khadilkar V,
|
||
Khadilkar A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 May 13;14(5)
|
||
doi: 10.1136/bcr-2021-242376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33986015" target="_blank">33986015</a><a href="/pmc/articles/PMC8126271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27809389">Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagashima K,
|
||
Tanaka D,
|
||
Inagaki N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2017 Feb;59(2):129-133.
|
||
doi: 10.1111/ped.13199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27809389" target="_blank">27809389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28083605">Genetic Factors of Diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antosik K,
|
||
Borowiec M</span><br />
|
||
<span class="medgenPMjournal">Arch Immunol Ther Exp (Warsz)</span>
|
||
2016 Dec;64(Suppl 1):157-160.
|
||
Epub 2017 Jan 12
|
||
doi: 10.1007/s00005-016-0432-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28083605" target="_blank">28083605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19790256">Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osbak KK,
|
||
Colclough K,
|
||
Saint-Martin C,
|
||
Beer NL,
|
||
Bellanné-Chantelot C,
|
||
Ellard S,
|
||
Gloyn AL</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2009 Nov;30(11):1512-26.
|
||
doi: 10.1002/humu.21110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19790256" target="_blank">19790256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17986828">Neonatal diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tammaro P</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2007;11:70-82.
|
||
doi: 10.1159/000111059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17986828" target="_blank">17986828</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Permanent%20neonatal%20diabetes%20mellitus%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 (104)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34696808">Meglitinide (repaglinide) therapy in permanent neonatal diabetes mellitus: two case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Razzaghy-Azar M,
|
||
Nourbakhsh M,
|
||
Talea A,
|
||
Mohammad Amoli M,
|
||
Nourbakhsh M,
|
||
Larijani B</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2021 Oct 25;15(1):535.
|
||
doi: 10.1186/s13256-021-03052-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34696808" target="_blank">34696808</a><a href="/pmc/articles/PMC8543822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28527303">Insulin therapy in neonatal diabetes mellitus: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rabbone I,
|
||
Barbetti F,
|
||
Gentilella R,
|
||
Mossetto G,
|
||
Bonfanti R,
|
||
Maffeis C,
|
||
Iafusco D,
|
||
Piccinno E</span><br />
|
||
<span class="medgenPMjournal">Diabetes Res Clin Pract</span>
|
||
2017 Jul;129:126-135.
|
||
Epub 2017 Apr 13
|
||
doi: 10.1016/j.diabres.2017.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28527303" target="_blank">28527303</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21871684">Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo C,
|
||
Salina A,
|
||
Aloi C,
|
||
Iafusco D,
|
||
Lorini R,
|
||
d'Annunzio G</span><br />
|
||
<span class="medgenPMjournal">Diabetes Res Clin Pract</span>
|
||
2011 Nov;94(2):e50-2.
|
||
Epub 2011 Aug 25
|
||
doi: 10.1016/j.diabres.2011.07.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21871684" target="_blank">21871684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19247925">Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao X,
|
||
Wang T,
|
||
Li W,
|
||
Song H,
|
||
Gong C,
|
||
Diao C,
|
||
Yu M,
|
||
Yuan T,
|
||
Zhang Y,
|
||
Sun X,
|
||
Zhang Q,
|
||
Lu K,
|
||
Wang H,
|
||
Schmitz O,
|
||
Hansen T</span><br />
|
||
<span class="medgenPMjournal">Horm Metab Res</span>
|
||
2009 Jul;41(7):580-2.
|
||
Epub 2009 Feb 26
|
||
doi: 10.1055/s-0029-1192020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19247925" target="_blank">19247925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15013476">Neonatal and very-early-onset diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polak M,
|
||
Shield J</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2004 Feb;9(1):59-65.
|
||
doi: 10.1016/S1084-2756(03)00064-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15013476" target="_blank">15013476</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Permanent%20neonatal%20diabetes%20mellitus%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 (63)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34426871">Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laimon W,
|
||
El-Ziny M,
|
||
El-Hawary A,
|
||
Elsharkawy A,
|
||
Salem NA,
|
||
Aboelenin HM,
|
||
Awad MH,
|
||
Flanagan SE,
|
||
De Franco E</span><br />
|
||
<span class="medgenPMjournal">Acta Diabetol</span>
|
||
2021 Dec;58(12):1689-1700.
|
||
Epub 2021 Aug 23
|
||
doi: 10.1007/s00592-021-01788-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34426871" target="_blank">34426871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31588541">Monogenic Forms of Diabetes Mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaál Z,
|
||
Balogh I</span><br />
|
||
<span class="medgenPMjournal">Exp Suppl</span>
|
||
2019;111:385-416.
|
||
doi: 10.1007/978-3-030-25905-1_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31588541" target="_blank">31588541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27809389">Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagashima K,
|
||
Tanaka D,
|
||
Inagaki N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2017 Feb;59(2):129-133.
|
||
doi: 10.1111/ped.13199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27809389" target="_blank">27809389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24825091">Permanent neonatal diabetes mellitus in Jordan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abujbara MA,
|
||
Liswi MI,
|
||
El-Khateeb MS,
|
||
Flanagan SE,
|
||
Ellard S,
|
||
Ajlouni KM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2014 Sep;27(9-10):879-83.
|
||
doi: 10.1515/jpem-2014-0069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24825091" target="_blank">24825091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19790256">Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osbak KK,
|
||
Colclough K,
|
||
Saint-Martin C,
|
||
Beer NL,
|
||
Bellanné-Chantelot C,
|
||
Ellard S,
|
||
Gloyn AL</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2009 Nov;30(11):1512-26.
|
||
doi: 10.1002/humu.21110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19790256" target="_blank">19790256</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Permanent%20neonatal%20diabetes%20mellitus%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 (41)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35809554">Very low birth weight newborn with diabetes mellitus due to pancreas agenesis managed with insulin pump reservoir filled with undiluted insulin: 16-month follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zanfardino A,
|
||
Piscopo A,
|
||
Curto S,
|
||
Schiaffini R,
|
||
Rollato AS,
|
||
Testa V,
|
||
Miraglia Del Giudice E,
|
||
Barbetti F,
|
||
Iafusco D</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Syndr</span>
|
||
2022 Jul;16(7):102561.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1016/j.dsx.2022.102561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35809554" target="_blank">35809554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24468099">A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang WL,
|
||
Huang CJ,
|
||
Lei TH,
|
||
Niu DM,
|
||
Chiu CY,
|
||
Jap TS</span><br />
|
||
<span class="medgenPMjournal">Diabetes Res Clin Pract</span>
|
||
2014 Apr;104(1):e29-32.
|
||
Epub 2014 Jan 8
|
||
doi: 10.1016/j.diabres.2013.12.058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24468099" target="_blank">24468099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15910877">Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haider S,
|
||
Antcliff JF,
|
||
Proks P,
|
||
Sansom MS,
|
||
Ashcroft FM</span><br />
|
||
<span class="medgenPMjournal">J Mol Cell Cardiol</span>
|
||
2005 Jun;38(6):927-36.
|
||
doi: 10.1016/j.yjmcc.2005.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15910877" target="_blank">15910877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15531505">Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zung A,
|
||
Glaser B,
|
||
Nimri R,
|
||
Zadik Z</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2004 Nov;89(11):5504-7.
|
||
doi: 10.1210/jc.2004-1241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15531505" target="_blank">15531505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10212083">Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bappal B,
|
||
Raghupathy P,
|
||
de Silva V,
|
||
Khusaiby SM</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child Fetal Neonatal Ed</span>
|
||
1999 May;80(3):F209-12.
|
||
doi: 10.1136/fn.80.3.f209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10212083" target="_blank">10212083</a><a href="/pmc/articles/PMC1720935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Permanent%20neonatal%20diabetes%20mellitus%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 (25)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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|
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<div class=" bottom">
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||
</div>
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||
|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<!-- MedGen supplemental column starts here -->
|
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1833104%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (37)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833104%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833104%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (57)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833104%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1833104%5bDISCUI%5d" target="_blank">See all (60)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS606176" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99885" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Permanent%20neonatal%20diabetes%20mellitus" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22permanent%20neonatal%20diabetes%20mellitus%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
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|
||
|
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<div class="portlet mgSection" id="ID_115">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=138079%20176730%20600509%20600733%20600937" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2645[geneid]" target="_blank">View GCK variations in ClinVar</a></li><li><a href="/clinvar/?term=3630[geneid]" target="_blank">View INS variations in ClinVar</a></li><li><a href="/clinvar/?term=3651[geneid]" target="_blank">View PDX1 variations in ClinVar</a></li><li><a href="/clinvar/?term=3767[geneid]" target="_blank">View KCNJ11 variations in ClinVar</a></li><li><a href="/clinvar/?term=6833[geneid]" target="_blank">View ABCC8 variations in ClinVar</a></li><li><a href="/nuccore/161086962,194018566,209977060,210032370,254553283" target="_blank">RefSeqGene</a></li></ul></div>
|
||
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Permanent+neonatal+diabetes+mellitus/5681" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/diabetes_mellitus_permanent_neonatal_1_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Permanent%20neonatal%20diabetes%20mellitus" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10457/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301620" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
||
<a href="/pubmed/clinical?term=Permanent%20neonatal%20diabetes%20mellitus" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<li>
|
||
<a href="/pubmed?term=Permanent%20neonatal%20diabetes%20mellitus%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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|
||
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=371484" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=371484" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=371484" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3a21ccde49f3df7a226a0">Permanent neonatal diabetes mellitus</a>
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<div class="ralinkpop offscreen_noflow">Permanent neonatal diabetes mellitus<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3a218cde49f3df7a2156c">Neonatal diabetes mellitus</a>
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<div class="ralinkpop offscreen_noflow">Neonatal diabetes mellitus<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3a215cde49f3df7a1fcb4">Transitory neonatal diabetes mellitus</a>
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<div class="ralinkpop offscreen_noflow">Transitory neonatal diabetes mellitus<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3a1fbcde49f3df7a13f2d">Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews®</a>
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<div class="ralinkpop offscreen_noflow">Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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