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<meta name="keywords" content="C4759928, bmiq20, body mass index quantitative trait locus 20, finding, mc4r, mc4r deficiency, melanocortin 4 receptor deficiency, obesity, 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="Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1674972
|
||
ConceptID=C4759928
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20<span class="h1sub">(BMIQ20)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674972</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4759928</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BMIQ20; MC4R DEFICIENCY; MELANOCORTIN 4 RECEPTOR DEFICIENCY</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">Gene (location):<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="MC4R - ID: 4160 - NCBI Gene" href="/gene/4160" class="medgenPMinfo">MC4R</a> (18q21.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618406" target="_blank">618406</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_18127"><div><strong>Obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18127</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.">C0028754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of substantial excess body fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18127">Feature record</a> | <a href="/medgen?term=%22Obesity%22%5BClinical%20Features%5D%20OR%2018127%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69137"><div><strong>Tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69137</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.">C0241240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height above that which is expected according to age and gender norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69137">Feature record</a> | <a href="/medgen?term=%22Tall%20stature%22%5BClinical%20Features%5D%20OR%2069137%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9369"><div><strong>Polyphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9369</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.">C0020505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9369">Feature record</a> | <a href="/medgen?term=%22Polyphagia%22%5BClinical%20Features%5D%20OR%209369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10502"><div><strong>Increased bone mineral density</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10502</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.">C0029464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10502">Feature record</a> | <a href="/medgen?term=%22Increased%20bone%20mineral%20density%22%5BClinical%20Features%5D%20OR%2010502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43779"><div><strong>Hyperinsulinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43779</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.">C0020459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of insulin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43779">Feature record</a> | <a href="/medgen?term=%22Hyperinsulinemia%22%5BClinical%20Features%5D%20OR%2043779%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 the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperinsulinemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased bone mineral density</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyphagia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tall stature</a></span></li></ul></li></ul></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/31913414">Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahrami S,
|
||
Steen NE,
|
||
Shadrin A,
|
||
O'Connell K,
|
||
Frei O,
|
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2015 Feb 12;518(7538):187-196.
|
||
doi: 10.1038/nature14132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25673412" target="_blank">25673412</a><a href="/pmc/articles/PMC4338562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/16822830">Quantitative trait locus on chromosome 20q13 for plasma levels of C-reactive protein in healthy whites: the HERITAGE Family Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lakka TA,
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Rankinen T,
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Rice T,
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Leon AS,
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Rao DC,
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Skinner JS,
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Bouchard C</span><br />
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<span class="medgenPMjournal">Physiol Genomics</span>
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2006 Oct 11;27(2):103-7.
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Epub 2006 Jul 5
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doi: 10.1152/physiolgenomics.00054.2005.
|
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<span class="bold">PMID: </span><a href="/pubmed/16822830" target="_blank">16822830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14993914">An autosomal genome scan for loci influencing longitudinal burden of body mass index from childhood to young adulthood in white sibships: The Bogalusa Heart Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
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Li S,
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Cook NR,
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Rosner BA,
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Srinivasan SR,
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Boerwinkle E,
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2004 Apr;28(4):462-9.
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doi: 10.1038/sj.ijo.0802610.
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<span class="bold">PMID: </span><a href="/pubmed/14993914" target="_blank">14993914</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BODY%20MASS%20INDEX%20QUANTITATIVE%20TRAIT%20LOCUS%2020%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36568030">Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/36568030" target="_blank">36568030</a><a href="/pmc/articles/PMC9772568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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CARDIOGRAMplusC4D Consortium;
|
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CKDGen Consortium;
|
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GEFOS Consortium;
|
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GENIE Consortium;
|
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GLGC;
|
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ICBP;
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International Endogene Consortium;
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LifeLines Cohort Study;
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MAGIC Investigators;
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MuTHER Consortium;
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<span class="medgenPMjournal">Nature</span>
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2015 Feb 12;518(7538):187-196.
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doi: 10.1038/nature14132.
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<span class="bold">PMID: </span><a href="/pubmed/25673412" target="_blank">25673412</a><a href="/pmc/articles/PMC4338562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/16822830">Quantitative trait locus on chromosome 20q13 for plasma levels of C-reactive protein in healthy whites: the HERITAGE Family Study.</a></div>
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Rao DC,
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doi: 10.1152/physiolgenomics.00054.2005.
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<span class="bold">PMID: </span><a href="/pubmed/16822830" target="_blank">16822830</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/10320051">Genetics of insulin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedersen O</span><br />
|
||
<span class="medgenPMjournal">Exp Clin Endocrinol Diabetes</span>
|
||
1999;107(2):113-8.
|
||
doi: 10.1055/s-0029-1212085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10320051" target="_blank">10320051</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22BODY%20MASS%20INDEX%20QUANTITATIVE%20TRAIT%20LOCUS%2020%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 (40)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4759928%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
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