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<meta name="keywords" content="C2937288, disease or syndrome, grth, grthd, gthr, hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones, thrb, thyroid hormone resistance, autosomal dominant, thyroid hormone resistance, generalized, autosomal dominant, thyroid hormone unresponsiveness, 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="Generalized thyroid hormone resistance (GRTH) is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by Parrilla et al., 1991)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=424846
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ConceptID=C2937288
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thyroid hormone resistance, generalized, autosomal dominant<span class="h1sub">(GRTHD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424846</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:">C2937288</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>GRTHD; HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES; Thyroid Hormone Resistance, Autosomal Dominant</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="THRB - ID: 7068 - NCBI Gene" href="/gene/7068" class="medgenPMinfo">THRB</a> (3p24.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008569" target="_blank">MONDO:0008569</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/188570" target="_blank">188570</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Generalized thyroid hormone resistance (GRTH) is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by Parrilla et al., 1991). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375023"><div><strong>Increased circulating thyroglobulin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375023</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.">C4476805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375023">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20thyroglobulin%20concentration%22%5BClinical%20Features%5D%20OR%201375023%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42270"><div><strong>Goiter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42270</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.">C0018021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An enlargement of the thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42270">Feature record</a> | <a href="/medgen?term=%22Goiter%22%5BClinical%20Features%5D%20OR%2042270%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867466"><div><strong>Increased circulating free T3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867466</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.">C4021843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867466">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20free%20T3%22%5BClinical%20Features%5D%20OR%20867466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1654700"><div><strong>Generalized resistance to thyroid hormone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1654700</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.">C4722330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1654700">Feature record</a> | <a href="/medgen?term=%22Generalized%20resistance%20to%20thyroid%20hormone%22%5BClinical%20Features%5D%20OR%201654700%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1771990"><div><strong>Increased circulating free T4 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1771990</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.">C5421591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated concentration of free thyroxine (fT4) in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1771990">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20free%20T4%20concentration%22%5BClinical%20Features%5D%20OR%201771990%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_1375023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating thyroglobulin concentration</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_1654700" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized resistance to thyroid hormone</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Goiter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating free T3</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1771990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating free T4 concentration</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_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li></ul></li></ul></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/28938413">Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappa T,
|
||
Anselmo J,
|
||
Mamanasiri S,
|
||
Dumitrescu AM,
|
||
Weiss RE,
|
||
Refetoff S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Oct 1;102(10):3775-3782.
|
||
doi: 10.1210/jc.2017-01251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28938413" target="_blank">28938413</a><a href="/pmc/articles/PMC5630247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant)%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 (1)</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/28938413">Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappa T,
|
||
Anselmo J,
|
||
Mamanasiri S,
|
||
Dumitrescu AM,
|
||
Weiss RE,
|
||
Refetoff S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Oct 1;102(10):3775-3782.
|
||
doi: 10.1210/jc.2017-01251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28938413" target="_blank">28938413</a><a href="/pmc/articles/PMC5630247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22460197">Is there a role for inherited TRβ mutation in human carcinogenesis? [corrected].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinert LS,
|
||
Ceolin L,
|
||
Romitti M,
|
||
Camargo EG,
|
||
Maia AL</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Endocrinol Metabol</span>
|
||
2012 Feb;56(1):67-71.
|
||
doi: 10.1590/s0004-27302012000100010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22460197" target="_blank">22460197</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7677297">Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brucker-Davis F,
|
||
Skarulis MC,
|
||
Grace MB,
|
||
Benichou J,
|
||
Hauser P,
|
||
Wiggs E,
|
||
Weintraub BD</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
1995 Oct 15;123(8):572-83.
|
||
doi: 10.7326/0003-4819-123-8-199510150-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7677297" target="_blank">7677297</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33176840">Update on resistance to thyroid hormone syndromeβ.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun H,
|
||
Cao L,
|
||
Zheng R,
|
||
Xie S,
|
||
Liu C</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2020 Nov 11;46(1):168.
|
||
doi: 10.1186/s13052-020-00929-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33176840" target="_blank">33176840</a><a href="/pmc/articles/PMC7656732" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28938413">Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappa T,
|
||
Anselmo J,
|
||
Mamanasiri S,
|
||
Dumitrescu AM,
|
||
Weiss RE,
|
||
Refetoff S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Oct 1;102(10):3775-3782.
|
||
doi: 10.1210/jc.2017-01251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28938413" target="_blank">28938413</a><a href="/pmc/articles/PMC5630247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17132274">Thyroid hormone resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olateju TO,
|
||
Vanderpump MP</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Biochem</span>
|
||
2006 Nov;43(Pt 6):431-40.
|
||
doi: 10.1258/000456306778904678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17132274" target="_blank">17132274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8165897">Resistance to thyroid hormone and its molecular basis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refetoff S</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Jpn</span>
|
||
1994 Feb;36(1):1-15.
|
||
doi: 10.1111/j.1442-200x.1994.tb03121.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8165897" target="_blank">8165897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7833674">Resistance to thyroid hormone: an historical overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refetoff S</span><br />
|
||
<span class="medgenPMjournal">Thyroid</span>
|
||
1994 Fall;4(3):345-9.
|
||
doi: 10.1089/thy.1994.4.345.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7833674" target="_blank">7833674</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38558372">Effective TRIAC treatment of a THRβ-mutated patient with thyroid hormone resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carbone A,
|
||
Verrienti A,
|
||
Cito DS,
|
||
Sponziello M,
|
||
Pecce V,
|
||
Bruno R</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2024 Aug;85(2):598-600.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1007/s12020-024-03795-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38558372" target="_blank">38558372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34560890">Graves' disease coexisted with resistance to thyroid hormone: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akahori H,
|
||
Usuda R</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2021 Sep 25;15(1):473.
|
||
doi: 10.1186/s13256-021-03061-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34560890" target="_blank">34560890</a><a href="/pmc/articles/PMC8464102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7677297">Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brucker-Davis F,
|
||
Skarulis MC,
|
||
Grace MB,
|
||
Benichou J,
|
||
Hauser P,
|
||
Wiggs E,
|
||
Weintraub BD</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
1995 Oct 15;123(8):572-83.
|
||
doi: 10.7326/0003-4819-123-8-199510150-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7677297" target="_blank">7677297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8165897">Resistance to thyroid hormone and its molecular basis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refetoff S</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Jpn</span>
|
||
1994 Feb;36(1):1-15.
|
||
doi: 10.1111/j.1442-200x.1994.tb03121.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8165897" target="_blank">8165897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8486789">Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mixson AJ,
|
||
Hauser P,
|
||
Tennyson G,
|
||
Renault JC,
|
||
Bodenner DL,
|
||
Weintraub BD</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1993 May;91(5):2296-300.
|
||
doi: 10.1172/JCI116458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8486789" target="_blank">8486789</a><a href="/pmc/articles/PMC288234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28938413">Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappa T,
|
||
Anselmo J,
|
||
Mamanasiri S,
|
||
Dumitrescu AM,
|
||
Weiss RE,
|
||
Refetoff S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Oct 1;102(10):3775-3782.
|
||
doi: 10.1210/jc.2017-01251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28938413" target="_blank">28938413</a><a href="/pmc/articles/PMC5630247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22696245">A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slezak R,
|
||
Lukienczuk T,
|
||
Noczynska A,
|
||
Karpinski P,
|
||
Lebioda A,
|
||
Misiak B,
|
||
Sasiadek MM</span><br />
|
||
<span class="medgenPMjournal">Horm Metab Res</span>
|
||
2012 Sep;44(9):704-7.
|
||
Epub 2012 Jun 13
|
||
doi: 10.1055/s-0032-1312666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22696245" target="_blank">22696245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22696245">A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slezak R,
|
||
Lukienczuk T,
|
||
Noczynska A,
|
||
Karpinski P,
|
||
Lebioda A,
|
||
Misiak B,
|
||
Sasiadek MM</span><br />
|
||
<span class="medgenPMjournal">Horm Metab Res</span>
|
||
2012 Sep;44(9):704-7.
|
||
Epub 2012 Jun 13
|
||
doi: 10.1055/s-0032-1312666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22696245" target="_blank">22696245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15870119">Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grasberger H,
|
||
Mimouni-Bloch A,
|
||
Vantyghem MC,
|
||
van Vliet G,
|
||
Abramowicz M,
|
||
Metzger DL,
|
||
Abdullatif H,
|
||
Rydlewski C,
|
||
Macchia PE,
|
||
Scherberg NH,
|
||
van Sande J,
|
||
Mimouni M,
|
||
Weiss RE,
|
||
Vassart G,
|
||
Refetoff S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2005 Jul;90(7):4025-34.
|
||
Epub 2005 May 3
|
||
doi: 10.1210/jc.2005-0572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15870119" target="_blank">15870119</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7573179">Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leonard CM,
|
||
Martinez P,
|
||
Weintraub BD,
|
||
Hauser P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Jun 19;60(3):238-43.
|
||
doi: 10.1002/ajmg.1320600314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7573179" target="_blank">7573179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1727829">Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takeda K,
|
||
Sakurai A,
|
||
DeGroot LJ,
|
||
Refetoff S</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1992 Jan;74(1):49-55.
|
||
doi: 10.1210/jcem.74.1.1727829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1727829" target="_blank">1727829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3571851">Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magner JA,
|
||
Petrick P,
|
||
Menezes-Ferreira MM,
|
||
Stelling M,
|
||
Weintraub BD</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
1986 Dec;9(6):459-70.
|
||
doi: 10.1007/BF03346968.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3571851" target="_blank">3571851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant%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 (6)</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=C2937288%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C2937288%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C2937288%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2937288%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=188570" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Thyroid%20hormone%20resistance,%20generalized,%20autosomal%20dominant" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant)%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(%22Thyroid%20hormone%20resistance%2C%20generalized%2C%20autosomal%20dominant%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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=190160" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7068[geneid]" target="_blank">View THRB variations in ClinVar</a></li><li><a href="/nuccore/218156319" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=188570" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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|
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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Thyroid+hormone+resistance%2C+generalized%2C+autosomal+dominant/9404" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/thyroid_hormone_resistance_generalized_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Thyroid%20hormone%20resistance,%20generalized,%20autosomal%20dominant" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
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|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<h3>Reviews</h3>
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||
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Thyroid%20hormone%20resistance,%20generalized,%20autosomal%20dominant" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
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|
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|
||
<a href="/pubmed?term=Thyroid%20hormone%20resistance,%20generalized,%20autosomal%20dominant%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
||
|
||
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||
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|
||
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|
||
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|
||
<h3>Related information</h3>
|
||
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|
||
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||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=424846" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=424846" ref="log$=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=C2937288[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2937288[DISCUI]&test_type=Clinical" ref="log$=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=424846" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=424846" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=424846" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=424846" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
||
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|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=424846" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=424846" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
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|
||
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|
||
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|
||
|
||
|
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|
||
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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Turn On
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|
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||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb610ca68b6b5afcbf81fb">Thyroid hormone resistance, generalized, autosomal dominant</a>
|
||
<div class="ralinkpop offscreen_noflow">Thyroid hormone resistance, generalized, autosomal dominant<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb610af4a390645e855166">C2940786[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(26)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C2940786[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb610a84f3725e59817244">C2937288[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
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