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<meta name="keywords" content="C0271695, disease or syndrome, insr, mendenhall syndrome, pineal hyperplasia and diabetes mellitus syndrome, pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities, pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, rabson mendenhall syndrome, rabson-mendenhall syndrome, syndrome, mendenhall, syndrome, rabson-mendenhall, 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="INSR-related severe insulin resistance syndrome (INSR-SIRS) comprises a phenotypic spectrum that is a continuum from the severe phenotype of Donohue syndrome to the milder phenotype of Rabson-Mendenhall syndrome (RMS). Donohue syndrome is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction, postnatal growth failure, hypotonia, developmental delay, characteristic facies (proptosis, infraorbital folds, large, low-set, posteriorly rotated ears, thick vermilion of the upper and lower lips, and gingival hypertrophy), and organomegaly involving the heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS, at the milder end of the spectrum, is characterized by severe insulin resistance that, although not as severe as that of Donohue syndrome, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of Donohue syndrome. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=78783
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ConceptID=C0271695
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-->
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<!--imgCountBooks = 5--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (5)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476444/bin/insr-ir-Image005.gif" src-large="/books/NBK476444/bin/insr-ir-Image005.jpg" /></a><br /><a href="/books/NBK476444/figure/insr-ir.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476444/bin/insr-ir-Image003.gif" src-large="/books/NBK476444/bin/insr-ir-Image003.jpg" /></a><br /><a href="/books/NBK476444/figure/insr-ir.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476444/bin/insr-ir-Image002.gif" src-large="/books/NBK476444/bin/insr-ir-Image002.jpg" /></a><br /><a href="/books/NBK476444/figure/insr-ir.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476444/bin/insr-ir-Image004.gif" src-large="/books/NBK476444/bin/insr-ir-Image004.jpg" /></a><br /><a href="/books/NBK476444/figure/insr-ir.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476444/bin/insr-ir-Image001.gif" src-large="/books/NBK476444/bin/insr-ir-Image001.jpg" /></a><br /><a href="/books/NBK476444/figure/insr-ir.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Rabson-Mendenhall syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78783</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:">C0271695</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>MENDENHALL SYNDROME; Pineal hyperplasia AND diabetes mellitus syndrome; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities (33559001); Pineal hyperplasia AND diabetes mellitus syndrome (33559001); Mendenhall syndrome (33559001); Rabson-Mendenhall syndrome (33559001)</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="INSR - ID: 3643 - NCBI Gene" href="/gene/3643" class="medgenPMinfo">INSR</a> (19p13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009874" target="_blank">MONDO:0009874</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/262190" target="_blank">262190</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=769">ORPHA769</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/NBK476444" target="_blank">INSR-Related Severe Insulin Resistance Syndrome</a></div><div>INSR-related severe insulin resistance syndrome (INSR-SIRS) comprises a phenotypic spectrum that is a continuum from the severe phenotype of Donohue syndrome to the milder phenotype of Rabson-Mendenhall syndrome (RMS). Donohue syndrome is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction, postnatal growth failure, hypotonia, developmental delay, characteristic facies (proptosis, infraorbital folds, large, low-set, posteriorly rotated ears, thick vermilion of the upper and lower lips, and gingival hypertrophy), and organomegaly involving the heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS, at the milder end of the spectrum, is characterized by severe insulin resistance that, although not as severe as that of Donohue syndrome, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of Donohue syndrome. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer. [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/NBK476444#insr-ir.Summary" target="NBK476444">Summary</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.GeneReview_Scope" target="NBK476444">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Diagnosis" target="NBK476444">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Clinical_Characteristics" target="NBK476444">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Genetically_Related_Allelic_Diso" target="NBK476444">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Differential_Diagnosis" target="NBK476444">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Management" target="NBK476444">Management</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Genetic_Counseling" target="NBK476444">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Resources" target="NBK476444">Resources</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Molecular_Genetics" target="NBK476444">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.Chapter_Notes" target="NBK476444">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK476444#insr-ir.References" target="NBK476444">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Aviv Mesika | Aharon Klar | Tzipora C Falik Zaccai <a href="/books/NBK476444" target="NBK476444" title="NCBI Bookshelf: INSR-Related Severe Insulin Resistance Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with Rabson-Mendenhall syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.<br /><br />Severe insulin resistance in people with Rabson-Mendenhall syndrome affects the development of many parts of the body. Affected individuals are unusually small starting before birth, and infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features of the condition that become apparent early in life include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Rabson-Mendenhall syndrome include prominent, widely spaced eyes; a broad nose; and large, low-set ears.<br /><br />Rabson-Mendenhall syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity between Donohue syndrome (which is usually fatal before age 2) and type A insulin resistance syndrome (which is often not diagnosed until adolescence). People with Rabson-Mendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. Death usually results from complications related to diabetes mellitus, such as a toxic buildup of acids called ketones in the body (diabetic ketoacidosis). <a target="_blank" href="https://medlineplus.gov/genetics/condition/rabson-mendenhall-syndrome">https://medlineplus.gov/genetics/condition/rabson-mendenhall-syndrome</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_57848"><div><strong>Clitoral hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57848</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.">C0156394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Hypertrophy of the clitoris.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57848">Feature record</a> | <a href="/medgen?term=%22Clitoral%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057848%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_82837"><div><strong>Long penis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82837</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.">C0269011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Penile length more than 2 SD above the mean for age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82837">Feature record</a> | <a href="/medgen?term=%22Long%20penis%22%5BClinical%20Features%5D%20OR%2082837%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8351"><div><strong>Diabetic ketoacidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8351</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.">C0011880</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 type of diabetic metabolic abnormality with an accumulation of ketone bodies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8351">Feature record</a> | <a href="/medgen?term=%22Diabetic%20ketoacidosis%22%5BClinical%20Features%5D%20OR%208351%5Buid%5D">Search on this feature</a></div></div>
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||
<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_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</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 decreased concentration of glucose in the blood.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75765"><div><strong>Fasting hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75765</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.">C0271708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75765">Feature record</a> | <a href="/medgen?term=%22Fasting%20hypoglycemia%22%5BClinical%20Features%5D%20OR%2075765%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163439"><div><strong>Insulin-resistant diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163439</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.">C0854110</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 type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/163439">Feature record</a> | <a href="/medgen?term=%22Insulin-resistant%20diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%20163439%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383702"><div><strong>Postprandial hyperglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383702</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.">C1855520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of glucose in the blood following a meal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383702">Feature record</a> | <a href="/medgen?term=%22Postprandial%20hyperglycemia%22%5BClinical%20Features%5D%20OR%20383702%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78588"><div><strong>Advanced eruption of teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78588</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.">C0266054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78588">Feature record</a> | <a href="/medgen?term=%22Advanced%20eruption%20of%20teeth%22%5BClinical%20Features%5D%20OR%2078588%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</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.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_54"><div><strong>Acanthosis nigricans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>54</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.">C0000889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/54">Feature record</a> | <a href="/medgen?term=%22Acanthosis%20nigricans%22%5BClinical%20Features%5D%20OR%2054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43787"><div><strong>Hypertrichosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43787</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.">C0020555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrichosis is increased hair growth that is abnormal in quantity or location.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43787">Feature record</a> | <a href="/medgen?term=%22Hypertrichosis%22%5BClinical%20Features%5D%20OR%2043787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56250"><div><strong>Dry skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56250</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.">C0151908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin characterized by the lack of natural or normal moisture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56250">Feature record</a> | <a href="/medgen?term=%22Dry%20skin%22%5BClinical%20Features%5D%20OR%2056250%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78098"><div><strong>Onychauxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78098</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.">C0263536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thickened nails without deformity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78098">Feature record</a> | <a href="/medgen?term=%22Onychauxis%22%5BClinical%20Features%5D%20OR%2078098%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="divPopper rprt" id="clin_18752"><div><strong>Precocious puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18752</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.">C0034013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18752">Feature record</a> | <a href="/medgen?term=%22Precocious%20puberty%22%5BClinical%20Features%5D%20OR%2018752%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78588" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Advanced eruption of teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li></ul></li><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_8351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetic ketoacidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fasting hypoglycemia</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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insulin-resistant diabetes mellitus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postprandial hyperglycemia</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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious puberty</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clitoral hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long penis</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_54" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acanthosis nigricans</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dry skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrichosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Onychauxis</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</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_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271695[DISCUI]&test_type=Clinical" ref="ncbi_uid=78783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78783" target="_blank" href="/omim/147670">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK476444/" ref="ncbi_uid=78783">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78783" ref="ncbi_uid=78783">V</a></span></span><span class="TLline">Rabson-Mendenhall syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/869100" ref="tree=MeSH" title="MedGen record for Abnormal skin adnexa morphology">Abnormal skin adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/56381" ref="tree=MeSH" title="MedGen record for Abnormal hair morphology">Abnormal hair morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868983" ref="tree=MeSH" title="MedGen record for Abnormal hair quantity">Abnormal hair quantity</a></span><ul><li><span class="TLline"><a href="/medgen/43787" ref="tree=MeSH" title="MedGen record for Hypertrichosis">Hypertrichosis</a></span><ul><li><span class="matched_ds">Rabson-Mendenhall syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></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=2707&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Rabson-Mendenhall syndrome</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/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25156686">Leptin treatment: facts and expectations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paz-Filho G,
|
||
Mastronardi CA,
|
||
Licinio J</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2015 Jan;64(1):146-56.
|
||
Epub 2014 Aug 3
|
||
doi: 10.1016/j.metabol.2014.07.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25156686" target="_blank">25156686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17785698">IGF-I treatment of insulin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDonald A,
|
||
Williams RM,
|
||
Regan FM,
|
||
Semple RK,
|
||
Dunger DB</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2007 Aug;157 Suppl 1:S51-6.
|
||
doi: 10.1530/EJE-07-0271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17785698" target="_blank">17785698</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rabson-mendenhall%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</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/34718628">Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okawa MC,
|
||
Cochran E,
|
||
Lightbourne M,
|
||
Brown RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Feb 17;107(3):e1032-e1046.
|
||
doi: 10.1210/clinem/dgab782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34718628" target="_blank">34718628</a><a href="/pmc/articles/PMC8852213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34551418">Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dos Santos SS,
|
||
Ramaldes LA,
|
||
Gabbay MAL,
|
||
Moises RCS,
|
||
Dib SA</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2021;94(7-8):313-316.
|
||
Epub 2021 Sep 22
|
||
doi: 10.1159/000519613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34551418" target="_blank">34551418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18717867">Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parveen BA,
|
||
Sindhuja R</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2008 Aug;47(8):839-41.
|
||
doi: 10.1111/j.1365-4632.2008.03591.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18717867" target="_blank">18717867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15232309">Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musso C,
|
||
Cochran E,
|
||
Moran SA,
|
||
Skarulis MC,
|
||
Oral EA,
|
||
Taylor S,
|
||
Gorden P</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2004 Jul;83(4):209-222.
|
||
doi: 10.1097/01.md.0000133625.73570.54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15232309" target="_blank">15232309</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rabson-Mendenhall%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23263437">Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta J,
|
||
Daniel JM,
|
||
Vasudevan V</span><br />
|
||
<span class="medgenPMjournal">J Indian Soc Pedod Prev Dent</span>
|
||
2012 Jul-Sep;30(3):279-82.
|
||
doi: 10.4103/0970-4388.105026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23263437" target="_blank">23263437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20155514">Rabson-Mendenhall syndrome: two case reports and a brief review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bathi RJ,
|
||
Parveen S,
|
||
Mutalik S,
|
||
Rao R</span><br />
|
||
<span class="medgenPMjournal">Odontology</span>
|
||
2010 Feb;98(1):89-96.
|
||
Epub 2010 Feb 16
|
||
doi: 10.1007/s10266-009-0106-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20155514" target="_blank">20155514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18717867">Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parveen BA,
|
||
Sindhuja R</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2008 Aug;47(8):839-41.
|
||
doi: 10.1111/j.1365-4632.2008.03591.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18717867" target="_blank">18717867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12047650">What syndrome is this? Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hardaway CA,
|
||
Gibbs NF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2002 May-Jun;19(3):267-70.
|
||
doi: 10.1046/j.1525-1470.2002.00069.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12047650" target="_blank">12047650</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rabson-Mendenhall%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34718628">Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okawa MC,
|
||
Cochran E,
|
||
Lightbourne M,
|
||
Brown RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Feb 17;107(3):e1032-e1046.
|
||
doi: 10.1210/clinem/dgab782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34718628" target="_blank">34718628</a><a href="/pmc/articles/PMC8852213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34551418">Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dos Santos SS,
|
||
Ramaldes LA,
|
||
Gabbay MAL,
|
||
Moises RCS,
|
||
Dib SA</span><br />
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<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2021;94(7-8):313-316.
|
||
Epub 2021 Sep 22
|
||
doi: 10.1159/000519613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34551418" target="_blank">34551418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25156686">Leptin treatment: facts and expectations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paz-Filho G,
|
||
Mastronardi CA,
|
||
Licinio J</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
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2015 Jan;64(1):146-56.
|
||
Epub 2014 Aug 3
|
||
doi: 10.1016/j.metabol.2014.07.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25156686" target="_blank">25156686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17785698">IGF-I treatment of insulin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDonald A,
|
||
Williams RM,
|
||
Regan FM,
|
||
Semple RK,
|
||
Dunger DB</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2007 Aug;157 Suppl 1:S51-6.
|
||
doi: 10.1530/EJE-07-0271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17785698" target="_blank">17785698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8077364">Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Longo N,
|
||
Singh R,
|
||
Griffin LD,
|
||
Langley SD,
|
||
Parks JS,
|
||
Elsas LJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1994 Sep;79(3):799-805.
|
||
doi: 10.1210/jcem.79.3.8077364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8077364" target="_blank">8077364</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rabson-Mendenhall%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34718628">Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okawa MC,
|
||
Cochran E,
|
||
Lightbourne M,
|
||
Brown RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Feb 17;107(3):e1032-e1046.
|
||
doi: 10.1210/clinem/dgab782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34718628" target="_blank">34718628</a><a href="/pmc/articles/PMC8852213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34426871">Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laimon W,
|
||
El-Ziny M,
|
||
El-Hawary A,
|
||
Elsharkawy A,
|
||
Salem NA,
|
||
Aboelenin HM,
|
||
Awad MH,
|
||
Flanagan SE,
|
||
De Franco E</span><br />
|
||
<span class="medgenPMjournal">Acta Diabetol</span>
|
||
2021 Dec;58(12):1689-1700.
|
||
Epub 2021 Aug 23
|
||
doi: 10.1007/s00592-021-01788-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34426871" target="_blank">34426871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32843252">Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Kandari H,
|
||
Al-Abdulrazzaq D,
|
||
Al-Jaser F,
|
||
Al-Mulla F,
|
||
Davidsson L</span><br />
|
||
<span class="medgenPMjournal">Prim Care Diabetes</span>
|
||
2021 Feb;15(1):175-177.
|
||
Epub 2020 Aug 23
|
||
doi: 10.1016/j.pcd.2020.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32843252" target="_blank">32843252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18717867">Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parveen BA,
|
||
Sindhuja R</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2008 Aug;47(8):839-41.
|
||
doi: 10.1111/j.1365-4632.2008.03591.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18717867" target="_blank">18717867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2365819">Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kadowaki T,
|
||
Kadowaki H,
|
||
Rechler MM,
|
||
Serrano-Rios M,
|
||
Roth J,
|
||
Gorden P,
|
||
Taylor SI</span><br />
|
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<span class="medgenPMjournal">J Clin Invest</span>
|
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1990 Jul;86(1):254-64.
|
||
doi: 10.1172/JCI114693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2365819" target="_blank">2365819</a><a href="/pmc/articles/PMC296715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rabson-Mendenhall%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34718628">Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okawa MC,
|
||
Cochran E,
|
||
Lightbourne M,
|
||
Brown RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Feb 17;107(3):e1032-e1046.
|
||
doi: 10.1210/clinem/dgab782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34718628" target="_blank">34718628</a><a href="/pmc/articles/PMC8852213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25156686">Leptin treatment: facts and expectations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paz-Filho G,
|
||
Mastronardi CA,
|
||
Licinio J</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2015 Jan;64(1):146-56.
|
||
Epub 2014 Aug 3
|
||
doi: 10.1016/j.metabol.2014.07.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25156686" target="_blank">25156686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17785698">IGF-I treatment of insulin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDonald A,
|
||
Williams RM,
|
||
Regan FM,
|
||
Semple RK,
|
||
Dunger DB</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2007 Aug;157 Suppl 1:S51-6.
|
||
doi: 10.1530/EJE-07-0271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17785698" target="_blank">17785698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8077364">Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Longo N,
|
||
Singh R,
|
||
Griffin LD,
|
||
Langley SD,
|
||
Parks JS,
|
||
Elsas LJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1994 Sep;79(3):799-805.
|
||
doi: 10.1210/jcem.79.3.8077364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8077364" target="_blank">8077364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6339538">Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor SI,
|
||
Underhill LH,
|
||
Hedo JA,
|
||
Roth J,
|
||
Rios MS,
|
||
Blizzard RM</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1983 Apr;56(4):856-61.
|
||
doi: 10.1210/jcem-56-4-856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6339538" target="_blank">6339538</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rabson-Mendenhall%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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||
|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0271695%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271695%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271695%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0271695%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rabson-mendenhall%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Rabson-Mendenhall%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/pineal_hyperplasia_insulin_resistant_diabetes_mellitus_and_somatic_abnormalities" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Rabson-Mendenhall%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/rabson-mendenhall-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/226/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<ul>
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<a href="/pubmed/29369573" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
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<a href="/pubmed/clinical?term=Rabson-Mendenhall%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Rabson-Mendenhall%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5de984f3725e5971e298">Rabson-Mendenhall syndrome</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5de7b15b832ebc405803">CN239331[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(408)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb5de584f3725e5971d326">RPGRIP1L-related disorder</a>
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<div class="tertiary">MedGen</div>
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