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<meta name="keywords" content="6q24-related diabetes mellitus, C1832386, chromosome 6-associated transient diabetes mellitus, diabetes mellitus, 6q24-related transient neonatal, diabetes mellitus, transient neonatal, diabetes mellitus, transient neonatal 1, diabetes mellitus, transient neonatal, 1, diabetes mellitus, transient neonatal, type 1, disease or syndrome, dmtn, hymai, k atp associated transient neonatal diabetes mellitus, tndm, tndm1, transient neonatal diabetes mellitus, zfp57, 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="6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth restriction, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration, and absence of ketoacidosis. Macroglossia and umbilical hernia may be present. 6q24-TNDM associated with a multilocus imprinting disturbance (MLID) can be associated with marked hypotonia, congenital heart disease, deafness, neurologic features including epilepsy, and renal malformations. Diabetes mellitus usually starts within the first week of life and lasts on average three months but can last longer than a year. Although insulin is usually required initially, the need for insulin gradually declines over time. Intermittent episodes of hyperglycemia may occur in childhood, particularly during intercurrent illnesses. Diabetes mellitus may recur in adolescence or later in adulthood. Women who have had 6q24-TNDM are at risk for relapse during pregnancy." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=371317
|
||
ConceptID=C1832386
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1534/bin/dmtn-Image001.gif" src-large="/books/NBK1534/bin/dmtn-Image001.jpg" /></a><br /><a href="/books/NBK1534/figure/dmtn.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Diabetes mellitus, transient neonatal, 1<span class="h1sub">(TNDM1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371317</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.">C1832386</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>Chromosome 6-associated transient diabetes mellitus; Diabetes Mellitus, 6q24-Related Transient Neonatal; Diabetes mellitus, transient neonatal; TNDM1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Diabetes mellitus, transient neonatal 1 (609579009); TNDM1 (609579009)</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><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="HYMAI - ID: 57061 - NCBI Gene" href="/gene/57061" class="medgenPMinfo">HYMAI</a> (6q24.2); <a target="_blank" title="ZFP57 - ID: 346171 - NCBI Gene" href="/gene/346171" class="medgenPMinfo">ZFP57</a> (6p22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011073" target="_blank">MONDO:0011073</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601410" target="_blank">601410</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=99886">ORPHA99886</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1534" target="_blank">Diabetes Mellitus, 6q24-Related Transient Neonatal</a></div><div>6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth restriction, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration, and absence of ketoacidosis. Macroglossia and umbilical hernia may be present. 6q24-TNDM associated with a multilocus imprinting disturbance (MLID) can be associated with marked hypotonia, congenital heart disease, deafness, neurologic features including epilepsy, and renal malformations. Diabetes mellitus usually starts within the first week of life and lasts on average three months but can last longer than a year. Although insulin is usually required initially, the need for insulin gradually declines over time. Intermittent episodes of hyperglycemia may occur in childhood, particularly during intercurrent illnesses. Diabetes mellitus may recur in adolescence or later in adulthood. Women who have had 6q24-TNDM are at risk for relapse during pregnancy. [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/NBK1534#dmtn.Summary" target="NBK1534">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Diagnosis" target="NBK1534">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Clinical_Characteristics" target="NBK1534">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Genetically_Related_Allelic_Disorde" target="NBK1534">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Differential_Diagnosis" target="NBK1534">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Management" target="NBK1534">Management</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Genetic_Counseling" target="NBK1534">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Resources" target="NBK1534">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Molecular_Genetics" target="NBK1534">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.Chapter_Notes" target="NBK1534">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1534#dmtn.References" target="NBK1534">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Isabel Karen Temple | Deborah JG Mackay <a href="/books/NBK1534" target="NBK1534" title="NCBI Bookshelf: Diabetes Mellitus, 6q24-Related Transient Neonatal">view full author information</a></div></div>
|
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</div>
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|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (see PNDM1, 606176). In a significant number of patients with transient neonatal diabetes mellitus, type 2 diabetes appears later in life (Arthur et al., 1997).
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||
The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene (603044; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
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||
Genetic Heterogeneity of Transient Neonatal Diabetes
|
||
TNDM2 (610374) is caused by mutation in the ABCC8 gene (600509) on chromosome 11p15.1. TNDM3 (610582) is caused by mutation in the KCNJ11 gene (600937), also located on 11p15.1. <a target="_blank" href="http://www.omim.org/entry/601410">http://www.omim.org/entry/601410</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. 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 />People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life.<br /><br />Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay. <a target="_blank" href="https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus">https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343373"><div><strong>Severe failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343373</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.">C1855514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/343373">Feature record</a> | <a href="/medgen?term=%22Severe%20failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20343373%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_8273"><div><strong>Dehydration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8273</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.">C0011175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/8273">Feature record</a> | <a href="/medgen?term=%22Dehydration%22%5BClinical%20Features%5D%20OR%208273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5689"><div><strong>Hyperglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5689</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.">C0020456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">An increased concentration of glucose in the blood.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/5689">Feature record</a> | <a href="/medgen?term=%22Hyperglycemia%22%5BClinical%20Features%5D%20OR%205689%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_449530"><div><strong>Transitory neonatal diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>449530</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.">C0342273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/449530">Feature record</a> | <a href="/medgen?term=%22Transitory%20neonatal%20diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%20449530%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dehydration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperglycemia</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_449530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transitory neonatal diabetes mellitus</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe failure to thrive</a></span></li></ul></li></ul></div></div>
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||
</div>
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||
<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>
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||
<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="TLclosed"><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"><a href="/medgen/371484" ref="tree=GTR&ncbi_uid=371484&link_uid=371484" title="View MedGen record for 'Permanent neonatal diabetes mellitus'">Permanent 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=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="matched_ds"><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">Diabetes mellitus, transient neonatal, 1</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/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><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/1392102" ref="tree=MeSH" title="MedGen record for Monogenic diabetes">Monogenic diabetes</a></span><ul><li><span class="matched_ds">Diabetes mellitus, transient neonatal, 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38365697">Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du T,
|
||
Xia Y,
|
||
Sun C,
|
||
Gong Z,
|
||
Liang L,
|
||
Gong Z,
|
||
Wang R,
|
||
Lu D,
|
||
Zhang K,
|
||
Yang Y,
|
||
Sun Y,
|
||
Sun M,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 16;19(1):75.
|
||
doi: 10.1186/s13023-024-03070-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38365697" target="_blank">38365697</a><a href="/pmc/articles/PMC10874070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33606663">Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonfanti R,
|
||
Iafusco D,
|
||
Rabbone I,
|
||
Diedenhofen G,
|
||
Bizzarri C,
|
||
Patera PI,
|
||
Reinstadler P,
|
||
Costantino F,
|
||
Calcaterra V,
|
||
Iughetti L,
|
||
Savastio S,
|
||
Favia A,
|
||
Cardella F,
|
||
Lo Presti D,
|
||
Girtler Y,
|
||
Rabbiosi S,
|
||
D'Annunzio G,
|
||
Zanfardino A,
|
||
Piscopo A,
|
||
Casaburo F,
|
||
Pintomalli L,
|
||
Russo L,
|
||
Grasso V,
|
||
Minuto N,
|
||
Mucciolo M,
|
||
Novelli A,
|
||
Marucci A,
|
||
Piccini B,
|
||
Toni S,
|
||
Silvestri F,
|
||
Carrera P,
|
||
Rigamonti A,
|
||
Frontino G,
|
||
Trada M,
|
||
Tinti D,
|
||
Delvecchio M,
|
||
Rapini N,
|
||
Schiaffini R,
|
||
Mammì C,
|
||
Barbetti F;
|
||
Diabetes Study Group of ISPED</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2021 Apr;184(4):575-585.
|
||
doi: 10.1530/EJE-20-1030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33606663" target="_blank">33606663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24569603">Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mackay D,
|
||
Bens S,
|
||
Perez de Nanclares G,
|
||
Siebert R,
|
||
Temple IK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Sep;22(9)
|
||
Epub 2014 Feb 26
|
||
doi: 10.1038/ejhg.2014.27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24569603" target="_blank">24569603</a><a href="/pmc/articles/PMC4135418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(diabetes%20mellitus%2C%20transient%20neonatal%2C%201)%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 (21)</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10699182">An imprinted locus associated with transient neonatal diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardner RJ,
|
||
Mackay DJ,
|
||
Mungall AJ,
|
||
Polychronakos C,
|
||
Siebert R,
|
||
Shield JP,
|
||
Temple IK,
|
||
Robinson DO</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2000 Mar 1;9(4):589-96.
|
||
doi: 10.1093/hmg/9.4.589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10699182" target="_blank">10699182</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/32316223">CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syding LA,
|
||
Nickl P,
|
||
Kasparek P,
|
||
Sedlacek R</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Apr 16;9(4)
|
||
doi: 10.3390/cells9040993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32316223" target="_blank">32316223</a><a href="/pmc/articles/PMC7226972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30968677">Syndromic Disorders Caused by Disturbed Human Imprinting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carli D,
|
||
Riberi E,
|
||
Ferrero GB,
|
||
Mussa A</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2020 Mar 19;12(1):1-16.
|
||
Epub 2019 Apr 10
|
||
doi: 10.4274/jcrpe.galenos.2019.2018.0249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30968677" target="_blank">30968677</a><a href="/pmc/articles/PMC7127890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28347637">Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamoun T,
|
||
Chabchoub I,
|
||
Ben Ameur S,
|
||
Kmiha S,
|
||
Aloulou H,
|
||
Cave H,
|
||
Polak M,
|
||
Hachicha M</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5):453-456.
|
||
Epub 2017 Mar 24
|
||
doi: 10.1016/j.arcped.2017.02.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28347637" target="_blank">28347637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27075368">Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bak M,
|
||
Boonen SE,
|
||
Dahl C,
|
||
Hahnemann JM,
|
||
Mackay DJ,
|
||
Tümer Z,
|
||
Grønskov K,
|
||
Temple IK,
|
||
Guldberg P,
|
||
Tommerup N</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2016 Apr 14;17:29.
|
||
doi: 10.1186/s12881-016-0292-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27075368" target="_blank">27075368</a><a href="/pmc/articles/PMC4831126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26821280">Insulin Glargine 300 U/mL: A Review in Diabetes Mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blair HA,
|
||
Keating GM</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2016 Mar;76(3):363-74.
|
||
doi: 10.1007/s40265-016-0541-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26821280" target="_blank">26821280</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20mellitus%2C%20transient%20neonatal%2C%201%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38874636">Potential pathogenetic role of a novel ABCC8 missense variant on both transient neonatal diabetes mellitus and fetal growth restriction: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perri A,
|
||
Fattore S,
|
||
Minucci A,
|
||
Rinelli M,
|
||
Barbetti F,
|
||
Pitocco D,
|
||
Costa S,
|
||
Vento G</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2024 Jun 14;51(1):753.
|
||
doi: 10.1007/s11033-024-09668-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38874636" target="_blank">38874636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30968677">Syndromic Disorders Caused by Disturbed Human Imprinting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carli D,
|
||
Riberi E,
|
||
Ferrero GB,
|
||
Mussa A</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2020 Mar 19;12(1):1-16.
|
||
Epub 2019 Apr 10
|
||
doi: 10.4274/jcrpe.galenos.2019.2018.0249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30968677" target="_blank">30968677</a><a href="/pmc/articles/PMC7127890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791793">Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Xu A,
|
||
Sheng H,
|
||
Ting TH,
|
||
Mao X,
|
||
Huang X,
|
||
Jiang M,
|
||
Cheng J,
|
||
Liu L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2018 Mar;19(2):251-258.
|
||
Epub 2017 Aug 8
|
||
doi: 10.1111/pedi.12560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791793" target="_blank">28791793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28347637">Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamoun T,
|
||
Chabchoub I,
|
||
Ben Ameur S,
|
||
Kmiha S,
|
||
Aloulou H,
|
||
Cave H,
|
||
Polak M,
|
||
Hachicha M</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5):453-456.
|
||
Epub 2017 Mar 24
|
||
doi: 10.1016/j.arcped.2017.02.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28347637" target="_blank">28347637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27075368">Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bak M,
|
||
Boonen SE,
|
||
Dahl C,
|
||
Hahnemann JM,
|
||
Mackay DJ,
|
||
Tümer Z,
|
||
Grønskov K,
|
||
Temple IK,
|
||
Guldberg P,
|
||
Tommerup N</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2016 Apr 14;17:29.
|
||
doi: 10.1186/s12881-016-0292-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27075368" target="_blank">27075368</a><a href="/pmc/articles/PMC4831126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20mellitus%2C%20transient%20neonatal%2C%201%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35218690">Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kontbay T,
|
||
Atar M,
|
||
Demirbilek H</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 May 25;35(5):695-698.
|
||
Epub 2022 Feb 28
|
||
doi: 10.1515/jpem-2021-0538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35218690" target="_blank">35218690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791793">Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Xu A,
|
||
Sheng H,
|
||
Ting TH,
|
||
Mao X,
|
||
Huang X,
|
||
Jiang M,
|
||
Cheng J,
|
||
Liu L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2018 Mar;19(2):251-258.
|
||
Epub 2017 Aug 8
|
||
doi: 10.1111/pedi.12560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791793" target="_blank">28791793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28347637">Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamoun T,
|
||
Chabchoub I,
|
||
Ben Ameur S,
|
||
Kmiha S,
|
||
Aloulou H,
|
||
Cave H,
|
||
Polak M,
|
||
Hachicha M</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5):453-456.
|
||
Epub 2017 Mar 24
|
||
doi: 10.1016/j.arcped.2017.02.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28347637" target="_blank">28347637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28334746">A Newborn with Transient Diabetes Mellitus Accompanied by Ketoacidosis Attributable to a ZFP57 Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iyigun F,
|
||
Ozcan B,
|
||
Kulali F,
|
||
Celik IH,
|
||
Cetinkaya S,
|
||
Bas AY,
|
||
Demirel N</span><br />
|
||
<span class="medgenPMjournal">J Trop Pediatr</span>
|
||
2017 Oct 1;63(5):399-401.
|
||
doi: 10.1093/tropej/fmx005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28334746" target="_blank">28334746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26821280">Insulin Glargine 300 U/mL: A Review in Diabetes Mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blair HA,
|
||
Keating GM</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2016 Mar;76(3):363-74.
|
||
doi: 10.1007/s40265-016-0541-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26821280" target="_blank">26821280</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20mellitus%2C%20transient%20neonatal%2C%201%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35218690">Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kontbay T,
|
||
Atar M,
|
||
Demirbilek H</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 May 25;35(5):695-698.
|
||
Epub 2022 Feb 28
|
||
doi: 10.1515/jpem-2021-0538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35218690" target="_blank">35218690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31822546">What predicts regression from pre-diabetes to normal glucose regulation following a primary care nurse-delivered dietary intervention? A study protocol for a prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppell K,
|
||
Freer T,
|
||
Abel S,
|
||
Whitehead L,
|
||
Tipene-Leach D,
|
||
Gray AR,
|
||
Merriman T,
|
||
Sullivan T,
|
||
Krebs J,
|
||
Perreault L</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Dec 9;9(12):e033358.
|
||
doi: 10.1136/bmjopen-2019-033358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31822546" target="_blank">31822546</a><a href="/pmc/articles/PMC6924756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791793">Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Xu A,
|
||
Sheng H,
|
||
Ting TH,
|
||
Mao X,
|
||
Huang X,
|
||
Jiang M,
|
||
Cheng J,
|
||
Liu L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Diabetes</span>
|
||
2018 Mar;19(2):251-258.
|
||
Epub 2017 Aug 8
|
||
doi: 10.1111/pedi.12560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791793" target="_blank">28791793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28347637">Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamoun T,
|
||
Chabchoub I,
|
||
Ben Ameur S,
|
||
Kmiha S,
|
||
Aloulou H,
|
||
Cave H,
|
||
Polak M,
|
||
Hachicha M</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5):453-456.
|
||
Epub 2017 Mar 24
|
||
doi: 10.1016/j.arcped.2017.02.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28347637" target="_blank">28347637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25755231">Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demirbilek H,
|
||
Arya VB,
|
||
Ozbek MN,
|
||
Houghton JA,
|
||
Baran RT,
|
||
Akar M,
|
||
Tekes S,
|
||
Tuzun H,
|
||
Mackay DJ,
|
||
Flanagan SE,
|
||
Hattersley AT,
|
||
Ellard S,
|
||
Hussain K</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2015 Jun;172(6):697-705.
|
||
Epub 2015 Mar 9
|
||
doi: 10.1530/EJE-14-0852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25755231" target="_blank">25755231</a><a href="/pmc/articles/PMC4411707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20mellitus%2C%20transient%20neonatal%2C%201%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/31822546">What predicts regression from pre-diabetes to normal glucose regulation following a primary care nurse-delivered dietary intervention? A study protocol for a prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppell K,
|
||
Freer T,
|
||
Abel S,
|
||
Whitehead L,
|
||
Tipene-Leach D,
|
||
Gray AR,
|
||
Merriman T,
|
||
Sullivan T,
|
||
Krebs J,
|
||
Perreault L</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Dec 9;9(12):e033358.
|
||
doi: 10.1136/bmjopen-2019-033358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31822546" target="_blank">31822546</a><a href="/pmc/articles/PMC6924756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25755231">Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demirbilek H,
|
||
Arya VB,
|
||
Ozbek MN,
|
||
Houghton JA,
|
||
Baran RT,
|
||
Akar M,
|
||
Tekes S,
|
||
Tuzun H,
|
||
Mackay DJ,
|
||
Flanagan SE,
|
||
Hattersley AT,
|
||
Ellard S,
|
||
Hussain K</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2015 Jun;172(6):697-705.
|
||
Epub 2015 Mar 9
|
||
doi: 10.1530/EJE-14-0852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25755231" target="_blank">25755231</a><a href="/pmc/articles/PMC4411707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diabetes%20mellitus%2C%20transient%20neonatal%2C%201%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C1832386%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832386%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832386%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832386%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832386%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1832386%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601410" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99886" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Diabetes%20mellitus,%20transient%20neonatal,%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(diabetes%20mellitus%2C%20transient%20neonatal%2C%201)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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=606546%20612192" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=57061[geneid]" target="_blank">View HYMAI variations in ClinVar</a></li><li><a href="/clinvar/?term=346171[geneid]" target="_blank">View ZFP57 variations in ClinVar</a></li><li><a href="/nuccore/260656016,270341352" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=601410" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/diabetes_mellitus_transient_neonatal_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Diabetes%20mellitus,%20transient%20neonatal,%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1839/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301706" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Diabetes%20mellitus,%20transient%20neonatal,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Diabetes%20mellitus,%20transient%20neonatal,%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=371317" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=371317" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1832386[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1832386[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=371317" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=371317" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=371317" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=371317" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=371317" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=371317" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=371317" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=371317" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=371317" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
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