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<meta name="keywords" content="C1857854, disease or syndrome, obairh, obesity due to pro-opiomelanocortin deficiency, obesity, adrenal insufficiency, and red hair due to pomc deficiency, obesity, early-onset, adrenal insufficiency, and red hair, obesity, early-onset, with adrenal insufficiency and red hair, pomc, pomc deficiency, pro-opiomelanocortin deficiency, proopiomelanocortin deficiency, proopiomelanocortin deficiency syndrome, 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="Early-onset obesity with adrenal insuficiency and red hair (OBAIRH) is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Obesity due to pro-opiomelanocortin deficiency (Concept Id: C1857854)
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<!--
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UID=341863
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ConceptID=C1857854
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Obesity due to pro-opiomelanocortin deficiency<span class="h1sub">(OBAIRH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341863</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:">C1857854</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Obesity, adrenal insufficiency, and red hair due to POMC deficiency; OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; Proopiomelanocortin deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Obesity, early-onset, adrenal insufficiency, and red hair (702949005); Proopiomelanocortin deficiency syndrome (702949005)</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="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></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="POMC - ID: 5443 - NCBI Gene" href="/gene/5443" class="medgenPMinfo">POMC</a> (2p23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012335" target="_blank">MONDO:0012335</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609734" target="_blank">609734</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=71526">ORPHA71526</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_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Early-onset obesity with adrenal insuficiency and red hair (OBAIRH) is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008). [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_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.<br /><br />Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.<br /><br />Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (glucose), known as hypoglycemia. Adrenal insufficiency may also cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.<br /><br />Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics. <a target="_blank" href="https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency">https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency</a></div></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_925"><div><strong>Cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>925</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.">C0008370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of bile flow due to obstruction in bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/925">Feature record</a> | <a href="/medgen?term=%22Cholestasis%22%5BClinical%20Features%5D%20OR%20925%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_137968"><div><strong>Congenital isolated adrenocorticotropic hormone deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137968</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.">C0342388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital isolated adrenocorticotropic hormone deficiency (IAD) is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases, prolonged cholestatic jaundice, and very low plasma ACTH levels with no significant response to corticotropin-releasing hormone (CRH; 122560). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (176830), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137968">Feature record</a> | <a href="/medgen?term=%22Congenital%20isolated%20adrenocorticotropic%20hormone%20deficiency%22%5BClinical%20Features%5D%20OR%20137968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_164079"><div><strong>Hypoglycemic seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164079</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.">C0877056</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164079">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20seizures%22%5BClinical%20Features%5D%20OR%20164079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632671"><div><strong>Gonadotropin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632671</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.">C4552011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632671">Feature record</a> | <a href="/medgen?term=%22Gonadotropin%20deficiency%22%5BClinical%20Features%5D%20OR%201632671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86321"><div><strong>Hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86321</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.">C0311468</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86321">Feature record</a> | <a href="/medgen?term=%22Hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2086321%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66796"><div><strong>Red hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66796</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.">C0239803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66796">Feature record</a> | <a href="/medgen?term=%22Red%20hair%22%5BClinical%20Features%5D%20OR%2066796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1351"><div><strong>Adrenal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1351</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.">C0001623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1351">Feature record</a> | <a href="/medgen?term=%22Adrenal%20insufficiency%22%5BClinical%20Features%5D%20OR%201351%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322961"><div><strong>Decreased circulating cortisol level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322961</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.">C1836623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally reduced concentration of cortisol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322961">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20cortisol%20level%22%5BClinical%20Features%5D%20OR%20322961%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337539"><div><strong>Adrenal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337539</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.">C1846223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the adrenal glands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337539">Feature record</a> | <a href="/medgen?term=%22Adrenal%20hypoplasia%22%5BClinical%20Features%5D%20OR%20337539%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1784655"><div><strong>Decreased response to growth hormone stimulation test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784655</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.">C5539399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784655">Feature record</a> | <a href="/medgen?term=%22Decreased%20response%20to%20growth%20hormone%20stimulation%20test%22%5BClinical%20Features%5D%20OR%201784655%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1778726"><div><strong>Decreased growth hormone responses to growth hormone-releasing hormone challenge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778726</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.">C5539698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778726">Feature record</a> | <a href="/medgen?term=%22Decreased%20growth%20hormone%20responses%20to%20growth%20hormone-releasing%20hormone%20challenge%22%5BClinical%20Features%5D%20OR%201778726%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_86321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperbilirubinemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis</a></span></li></ul></li><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_337539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating cortisol level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1778726" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased growth hormone responses to growth hormone-releasing hormone challenge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1784655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased response to growth hormone stimulation test</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Red hair</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_137968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital isolated adrenocorticotropic hormone deficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadotropin deficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic seizures</a></span></li><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></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=CN043636[DISCUI]&test_type=Clinical" ref="ncbi_uid=431602">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/431602" ref="tree=GTR&ncbi_uid=431602&link_uid=431602" title="View MedGen record for 'Monogenic Non-Syndromic Obesity, Autosomal Recessive'">Monogenic Non-Syndromic Obesity, Autosomal Recessive</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=C3554224[DISCUI]&test_type=Clinical" ref="ncbi_uid=767138">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767138" target="_blank" href="/omim/164160">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=767138" ref="ncbi_uid=767138">V</a></span></span><span class="TLline"><a href="/medgen/767138" ref="tree=GTR&ncbi_uid=767138&link_uid=767138" title="View MedGen record for 'Obesity due to congenital leptin deficiency'">Obesity due to congenital leptin deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554225[DISCUI]&test_type=Clinical" ref="ncbi_uid=767139">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767139" target="_blank" href="/omim/601007">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=767139" ref="ncbi_uid=767139">V</a></span></span><span class="TLline"><a href="/medgen/767139" ref="tree=GTR&ncbi_uid=767139&link_uid=767139" title="View MedGen record for 'Obesity due to leptin receptor gene deficiency'">Obesity due to leptin receptor gene deficiency</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857854[DISCUI]&test_type=Clinical" ref="ncbi_uid=341863">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341863" target="_blank" href="/omim/176830">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=341863" ref="ncbi_uid=341863">V</a></span></span><span class="TLline">Obesity due to pro-opiomelanocortin deficiency</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833053[DISCUI]&test_type=Clinical" ref="ncbi_uid=318777">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318777" target="_blank" href="/omim/162150">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=318777" ref="ncbi_uid=318777">V</a></span></span><span class="TLline"><a href="/medgen/318777" ref="tree=GTR&ncbi_uid=318777&link_uid=318777" title="View MedGen record for 'Obesity due to prohormone convertase I deficiency'">Obesity due to prohormone convertase I deficiency</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/431602" ref="tree=MeSH" title="MedGen record for Monogenic Non-Syndromic Obesity, Autosomal Recessive">Monogenic Non-Syndromic Obesity, Autosomal Recessive</a></span><ul><li><span class="matched_ds">Obesity due to pro-opiomelanocortin deficiency</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11020&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Obesity due to pro-opiomelanocortin deficiency</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37678438">Aqueous remote loading of setmelanotide in poly(lactic-co-glycolic acid) microspheres for long-term obesity treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Downing G,
|
||
Olsen KF,
|
||
Sawyer TK,
|
||
Cone RD,
|
||
Schwendeman SP</span><br />
|
||
<span class="medgenPMjournal">J Control Release</span>
|
||
2023 Dec;364:589-600.
|
||
Epub 2023 Nov 15
|
||
doi: 10.1016/j.jconrel.2023.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37678438" target="_blank">37678438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36053514">Long-Term MC4R Agonist Treatment in POMC-Deficient Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kühnen P,
|
||
Clément K</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Sep 1;387(9):852-854.
|
||
doi: 10.1056/NEJMc2207442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36053514" target="_blank">36053514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27658726">Neuroendocrinology: New hormone treatment for obesity caused by POMC-deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Low MJ</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2016 Nov;12(11):627-628.
|
||
Epub 2016 Sep 23
|
||
doi: 10.1038/nrendo.2016.156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27658726" target="_blank">27658726</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(obesity%20due%20to%20pro-opiomelanocortin%20deficiency)%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 (9)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27032982">Late endocrine effects of childhood cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose SR,
|
||
Horne VE,
|
||
Howell J,
|
||
Lawson SA,
|
||
Rutter MM,
|
||
Trotman GE,
|
||
Corathers SD</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2016 Jun;12(6):319-36.
|
||
Epub 2016 Apr 1
|
||
doi: 10.1038/nrendo.2016.45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27032982" target="_blank">27032982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24002412">Non-classic adrenal hyperplasia due to the deficiency of 21-hydroxylase and its relation to polycystic ovarian syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pignatelli D</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2013;40:158-70.
|
||
Epub 2012 Oct 18
|
||
doi: 10.1159/000342179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24002412" target="_blank">24002412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10696281">Etiology and pathogenesis of obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bray GA</span><br />
|
||
<span class="medgenPMjournal">Clin Cornerstone</span>
|
||
1999;2(3):1-15.
|
||
doi: 10.1016/s1098-3597(99)90001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10696281" target="_blank">10696281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8521154">The hypothalamic-pituitary-adrenal axis in obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chalew S,
|
||
Nagel H,
|
||
Shore S</span><br />
|
||
<span class="medgenPMjournal">Obes Res</span>
|
||
1995 Jul;3(4):371-82.
|
||
doi: 10.1002/j.1550-8528.1995.tb00163.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8521154" target="_blank">8521154</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%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 (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38223458">POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo DF,
|
||
Williams PA,
|
||
Laule C,
|
||
Seaby C,
|
||
Zhang Q,
|
||
Sheffield VC,
|
||
Rahmouni K</span><br />
|
||
<span class="medgenPMjournal">Function (Oxf)</span>
|
||
2024;5(1):zqad070.
|
||
Epub 2023 Dec 23
|
||
doi: 10.1093/function/zqad070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38223458" target="_blank">38223458</a><a href="/pmc/articles/PMC10787280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31995340">GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vitellius G,
|
||
Lombes M</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2020 Feb 1;182(2):R15-R27.
|
||
doi: 10.1530/EJE-19-0811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31995340" target="_blank">31995340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29031731">Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collet TH,
|
||
Dubern B,
|
||
Mokrosinski J,
|
||
Connors H,
|
||
Keogh JM,
|
||
Mendes de Oliveira E,
|
||
Henning E,
|
||
Poitou-Bernert C,
|
||
Oppert JM,
|
||
Tounian P,
|
||
Marchelli F,
|
||
Alili R,
|
||
Le Beyec J,
|
||
Pépin D,
|
||
Lacorte JM,
|
||
Gottesdiener A,
|
||
Bounds R,
|
||
Sharma S,
|
||
Folster C,
|
||
Henderson B,
|
||
O'Rahilly S,
|
||
Stoner E,
|
||
Gottesdiener K,
|
||
Panaro BL,
|
||
Cone RD,
|
||
Clément K,
|
||
Farooqi IS,
|
||
Van der Ploeg LHT</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2017 Oct;6(10):1321-1329.
|
||
Epub 2017 Jul 8
|
||
doi: 10.1016/j.molmet.2017.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29031731" target="_blank">29031731</a><a href="/pmc/articles/PMC5641599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27032982">Late endocrine effects of childhood cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose SR,
|
||
Horne VE,
|
||
Howell J,
|
||
Lawson SA,
|
||
Rutter MM,
|
||
Trotman GE,
|
||
Corathers SD</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2016 Jun;12(6):319-36.
|
||
Epub 2016 Apr 1
|
||
doi: 10.1038/nrendo.2016.45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27032982" target="_blank">27032982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25370939">Hypothalamic obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babcock Gilbert S,
|
||
Roth LW</span><br />
|
||
<span class="medgenPMjournal">Minerva Endocrinol</span>
|
||
2015 Mar;40(1):61-70.
|
||
Epub 2014 Nov 5
|
||
<span class="bold">PMID: </span><a href="/pubmed/25370939" target="_blank">25370939</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%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 (45)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33684608">The melanocortin pathway and energy homeostasis: From discovery to obesity therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo GSH,
|
||
Chao DHM,
|
||
Siegert AM,
|
||
Koerperich ZM,
|
||
Ericson MD,
|
||
Simonds SE,
|
||
Larson CM,
|
||
Luquet S,
|
||
Clarke I,
|
||
Sharma S,
|
||
Clément K,
|
||
Cowley MA,
|
||
Haskell-Luevano C,
|
||
Van Der Ploeg L,
|
||
Adan RAH</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2021 Jun;48:101206.
|
||
Epub 2021 Mar 6
|
||
doi: 10.1016/j.molmet.2021.101206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33684608" target="_blank">33684608</a><a href="/pmc/articles/PMC8050006" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29031731">Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collet TH,
|
||
Dubern B,
|
||
Mokrosinski J,
|
||
Connors H,
|
||
Keogh JM,
|
||
Mendes de Oliveira E,
|
||
Henning E,
|
||
Poitou-Bernert C,
|
||
Oppert JM,
|
||
Tounian P,
|
||
Marchelli F,
|
||
Alili R,
|
||
Le Beyec J,
|
||
Pépin D,
|
||
Lacorte JM,
|
||
Gottesdiener A,
|
||
Bounds R,
|
||
Sharma S,
|
||
Folster C,
|
||
Henderson B,
|
||
O'Rahilly S,
|
||
Stoner E,
|
||
Gottesdiener K,
|
||
Panaro BL,
|
||
Cone RD,
|
||
Clément K,
|
||
Farooqi IS,
|
||
Van der Ploeg LHT</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2017 Oct;6(10):1321-1329.
|
||
Epub 2017 Jul 8
|
||
doi: 10.1016/j.molmet.2017.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29031731" target="_blank">29031731</a><a href="/pmc/articles/PMC5641599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25370939">Hypothalamic obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babcock Gilbert S,
|
||
Roth LW</span><br />
|
||
<span class="medgenPMjournal">Minerva Endocrinol</span>
|
||
2015 Mar;40(1):61-70.
|
||
Epub 2014 Nov 5
|
||
<span class="bold">PMID: </span><a href="/pubmed/25370939" target="_blank">25370939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18230891">Monogenic human obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2008;36:1-11.
|
||
doi: 10.1159/000115333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18230891" target="_blank">18230891</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%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 (42)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31641982">Updates on Monogenic Obesity in a Multifactorial Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter J,
|
||
Armijo PR,
|
||
Flores L,
|
||
Krause C,
|
||
Samreen S,
|
||
Tanner T</span><br />
|
||
<span class="medgenPMjournal">Obes Surg</span>
|
||
2019 Dec;29(12):4077-4083.
|
||
doi: 10.1007/s11695-019-04200-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31641982" target="_blank">31641982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10885325">Pro-opiomelanocortin (POMC) deficiency and peripheral melanocortins in obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zemel MB,
|
||
Shi H</span><br />
|
||
<span class="medgenPMjournal">Nutr Rev</span>
|
||
2000 Jun;58(6):177-80.
|
||
doi: 10.1111/j.1753-4887.2000.tb01857.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10885325" target="_blank">10885325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10696281">Etiology and pathogenesis of obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bray GA</span><br />
|
||
<span class="medgenPMjournal">Clin Cornerstone</span>
|
||
1999;2(3):1-15.
|
||
doi: 10.1016/s1098-3597(99)90001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10696281" target="_blank">10696281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9620771">Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krude H,
|
||
Biebermann H,
|
||
Luck W,
|
||
Horn R,
|
||
Brabant G,
|
||
Grüters A</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1998 Jun;19(2):155-7.
|
||
doi: 10.1038/509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9620771" target="_blank">9620771</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36722447">Setmelanotide: a promising advancement for pediatric patients with rare forms of genetic obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trapp CM,
|
||
Censani M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2023 Apr 1;30(2):136-140.
|
||
Epub 2023 Feb 1
|
||
doi: 10.1097/MED.0000000000000798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36722447" target="_blank">36722447</a><a href="/pmc/articles/PMC9973437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34333593">Obesity, POMC, and POMC-processing Enzymes: Surprising Results From Animal Models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindberg I,
|
||
Fricker LD</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
2021 Dec 1;162(12)
|
||
doi: 10.1210/endocr/bqab155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34333593" target="_blank">34333593</a><a href="/pmc/articles/PMC8489426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33137293">Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clément K,
|
||
van den Akker E,
|
||
Argente J,
|
||
Bahm A,
|
||
Chung WK,
|
||
Connors H,
|
||
De Waele K,
|
||
Farooqi IS,
|
||
Gonneau-Lejeune J,
|
||
Gordon G,
|
||
Kohlsdorf K,
|
||
Poitou C,
|
||
Puder L,
|
||
Swain J,
|
||
Stewart M,
|
||
Yuan G,
|
||
Wabitsch M,
|
||
Kühnen P;
|
||
Setmelanotide POMC and LEPR Phase 3 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Dec;8(12):960-970.
|
||
Epub 2020 Oct 30
|
||
doi: 10.1016/S2213-8587(20)30364-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33137293" target="_blank">33137293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14749512">Monogenic human obesity syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS,
|
||
O'Rahilly S</span><br />
|
||
<span class="medgenPMjournal">Recent Prog Horm Res</span>
|
||
2004;59:409-24.
|
||
doi: 10.1210/rp.59.1.409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14749512" target="_blank">14749512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14711067">Obesity and endocrine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kokkoris P,
|
||
Pi-Sunyer FX</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2003 Dec;32(4):895-914.
|
||
doi: 10.1016/s0889-8529(03)00078-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14711067" target="_blank">14711067</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%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 (35)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34177811">Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregoric N,
|
||
Groselj U,
|
||
Bratina N,
|
||
Debeljak M,
|
||
Zerjav Tansek M,
|
||
Suput Omladic J,
|
||
Kovac J,
|
||
Battelino T,
|
||
Kotnik P,
|
||
Avbelj Stefanija M</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:689387.
|
||
Epub 2021 Jun 9
|
||
doi: 10.3389/fendo.2021.689387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34177811" target="_blank">34177811</a><a href="/pmc/articles/PMC8220084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23774329">The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fani L,
|
||
Bak S,
|
||
Delhanty P,
|
||
van Rossum EF,
|
||
van den Akker EL</span><br />
|
||
<span class="medgenPMjournal">Int J Obes (Lond)</span>
|
||
2014 Feb;38(2):163-9.
|
||
Epub 2013 Jun 18
|
||
doi: 10.1038/ijo.2013.80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23774329" target="_blank">23774329</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%22%20AND%20systematic%5Bsb%5D%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=C1857854%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857854%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857854%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1857854%5bDISCUI%5d" target="_blank">See all (24)</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>
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||
<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=609734" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=71526" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Obesity%20due%20to%20pro-opiomelanocortin%20deficiency" 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=(obesity%20due%20to%20pro-opiomelanocortin%20deficiency)%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=176830" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5443[geneid]" target="_blank">View POMC variations in ClinVar</a></li><li><a href="/nuccore/212720890" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609734" 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="http://www.diseaseinfosearch.org/Proopiomelanocortin+deficiency/9173" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/obesity_early_onset_with_adrenal_insufficiency_and_red_hair" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Obesity%20due%20to%20pro-opiomelanocortin%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10823/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/clinical?term=Obesity%20due%20to%20pro-opiomelanocortin%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Obesity%20due%20to%20pro-opiomelanocortin%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" 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=341863" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=341863" ref="log$=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=C1857854[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1857854[DISCUI]&test_type=Clinical" ref="log$=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=341863" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=341863" ref="log$=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=341863" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=341863" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
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