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<meta name="keywords" content="C0033300, disease or syndrome, hgps, hutchinson gilford progeria syndrome, hutchinson gilford syndrome, hutchinson-gilford disease, hutchinson-gilford progeria, hutchinson-gilford progeria syndrome, hutchinson-gilford progeria syndromes, hutchinson-gilford syndrome, lmna, premature senility syndrome, progeria, progeria syndrome, progeria syndrome, childhood-onset, progeria syndrome, hutchinson-gilford, progeria syndromes, hutchinson-gilford, progerin-producing progeroid laminopathy, progeroid laminopathies, 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="Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years (average 14.5 years) without lonafarnib treatment or cardiac surgery intervention. Average life span is extended to approximately 17-19.5 years with lonafarnib therapy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=46123
|
||
ConceptID=C0033300
|
||
-->
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||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1121/bin/hgps-Image001.gif" src-large="/books/NBK1121/bin/hgps-Image001.jpg" /></a><br /><a href="/books/NBK1121/figure/hgps.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1121/bin/hgps-Image002.gif" src-large="/books/NBK1121/bin/hgps-Image002.jpg" /></a><br /><a href="/books/NBK1121/figure/hgps.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hutchinson-Gilford syndrome<span class="h1sub">(HGPS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46123</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:">C0033300</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>HGPS; Hutchinson-Gilford Progeria Syndrome; Progerin-producing progeroid laminopathy; Progeroid Laminopathies</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Progeria (238870004); Hutchinson-Gilford syndrome (238870004); Progeria syndrome (238870004); Premature senility syndrome (238870004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="LMNA - ID: 4000 - NCBI Gene" href="/gene/4000" class="medgenPMinfo">LMNA</a> (1q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008310" target="_blank">MONDO:0008310</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/176670" target="_blank">176670</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=740">ORPHA740</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/NBK1121" target="_blank">Hutchinson-Gilford Progeria Syndrome</a></div><div>Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years (average 14.5 years) without lonafarnib treatment or cardiac surgery intervention. Average life span is extended to approximately 17-19.5 years with lonafarnib therapy. [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/NBK1121#hgps.Summary" target="NBK1121">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.GeneReview_Scope" target="NBK1121">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Diagnosis" target="NBK1121">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Clinical_Characteristics" target="NBK1121">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Genetically_Related_Allelic_Disorde" target="NBK1121">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Differential_Diagnosis" target="NBK1121">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Management" target="NBK1121">Management</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Genetic_Counseling" target="NBK1121">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Resources" target="NBK1121">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Molecular_Genetics" target="NBK1121">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.Chapter_Notes" target="NBK1121">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1121#hgps.References" target="NBK1121">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Leslie B Gordon | W Ted Brown | Francis S Collins <a href="/books/NBK1121" target="NBK1121" title="NCBI Bookshelf: Hutchinson-Gilford Progeria 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_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early death. Cognitive development is normal. Onset is usually within the first year of life (review by Hennekam, 2006). The designation Hutchinson-Gilford progeria syndrome appears to have been first used by DeBusk (1972).
|
||
A subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the early teenage years, and have longer survival than observed in classic HGPS (Chen et al., 2003; Hegele, 2003).
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||
Other disorders with a less severe, but overlapping phenotype include mandibuloacral dysplasia (MADA; 248370), an autosomal disorder caused by homozygous or compound heterozygous mutations in the LMNA gene, dilated cardiomyopathy with hypergonadotropic hypogonadism (212112), caused by heterozygous mutation in the LMNA gene, and Werner syndrome (277700), an autosomal recessive progeroid syndrome caused by homozygous or compound heterozygous mutations in the RECQL2 gene (604611). <a target="_blank" href="http://www.omim.org/entry/176670">http://www.omim.org/entry/176670</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.<br /><br />People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome">https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-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_1929"><div><strong>Angina pectoris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1929</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.">C0002962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1929">Feature record</a> | <a href="/medgen?term=%22Angina%20pectoris%22%5BClinical%20Features%5D%20OR%201929%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10150"><div><strong>Myocardial infarction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10150</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.">C0027051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/10150">Feature record</a> | <a href="/medgen?term=%22Myocardial%20infarction%22%5BClinical%20Features%5D%20OR%2010150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356830"><div><strong>Premature coronary artery atherosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356830</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.">C1867743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/356830">Feature record</a> | <a href="/medgen?term=%22Premature%20coronary%20artery%20atherosclerosis%22%5BClinical%20Features%5D%20OR%20356830%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867292"><div><strong>Precocious atherosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867292</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.">C4021654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/867292">Feature record</a> | <a href="/medgen?term=%22Precocious%20atherosclerosis%22%5BClinical%20Features%5D%20OR%20867292%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_69138"><div><strong>Absence of subcutaneous fat</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69138</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.">C0241267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Lack of subcutaneous adipose tissue.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/69138">Feature record</a> | <a href="/medgen?term=%22Absence%20of%20subcutaneous%20fat%22%5BClinical%20Features%5D%20OR%2069138%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347616"><div><strong>Malar flattening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347616</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.">C1858085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/347616">Feature record</a> | <a href="/medgen?term=%22Malar%20flattening%22%5BClinical%20Features%5D%20OR%20347616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1639139"><div><strong>Generalized osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639139</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.">C4551680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639139">Feature record</a> | <a href="/medgen?term=%22Generalized%20osteoporosis%22%5BClinical%20Features%5D%20OR%201639139%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648424"><div><strong>Osteolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648424</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.">C4721411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648424">Feature record</a> | <a href="/medgen?term=%22Osteolysis%22%5BClinical%20Features%5D%20OR%201648424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339938"><div><strong>Midface retrusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339938</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.">C1853242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339938">Feature record</a> | <a href="/medgen?term=%22Midface%20retrusion%22%5BClinical%20Features%5D%20OR%20339938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7982"><div><strong>Alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7982</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.">C0002170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A noncongenital process of hair loss, which may progress to partial or complete baldness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7982">Feature record</a> | <a href="/medgen?term=%22Alopecia%22%5BClinical%20Features%5D%20OR%207982%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_339938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface retrusion</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angina pectoris</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myocardial infarction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious atherosclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature coronary artery atherosclerosis</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_7982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence of subcutaneous fat</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1639139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized osteoporosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malar flattening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteolysis</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_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</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=C0033300[DISCUI]&test_type=Clinical" ref="ncbi_uid=46123">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0033300[DISCUI]&test_type=Research" ref="ncbi_uid=46123">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=46123" target="_blank" href="/omim/150330">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1121/" ref="ncbi_uid=46123">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=46123" ref="ncbi_uid=46123">V</a></span></span><span class="TLline">Hutchinson-Gilford syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="matched_ds">Hutchinson-Gilford syndrome</span></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=2670&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hutchinson-Gilford 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/30691039">Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piekarowicz K,
|
||
Machowska M,
|
||
Dzianisava V,
|
||
Rzepecki R</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2019 Jan 25;8(2)
|
||
doi: 10.3390/cells8020088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30691039" target="_blank">30691039</a><a href="/pmc/articles/PMC6406247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29619863">An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harhouri K,
|
||
Frankel D,
|
||
Bartoli C,
|
||
Roll P,
|
||
De Sandre-Giovannoli A,
|
||
Lévy N</span><br />
|
||
<span class="medgenPMjournal">Nucleus</span>
|
||
2018 Jan 1;9(1):246-257.
|
||
doi: 10.1080/19491034.2018.1460045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29619863" target="_blank">29619863</a><a href="/pmc/articles/PMC5973194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29127216">Emerging candidate treatment strategies for Hutchinson-Gilford progeria syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strandgren C,
|
||
Revêchon G,
|
||
Sola-Carvajal A,
|
||
Eriksson M</span><br />
|
||
<span class="medgenPMjournal">Biochem Soc Trans</span>
|
||
2017 Dec 15;45(6):1279-1293.
|
||
Epub 2017 Nov 10
|
||
doi: 10.1042/BST20170141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29127216" target="_blank">29127216</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hutchinson-gilford%20syndrome)%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 (34)</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/31018503">High Body Mass Index is Associated with Elevated Blood Levels of Progerin mRNA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Messner M,
|
||
Ghadge SK,
|
||
Schuetz T,
|
||
Seiringer H,
|
||
Pölzl G,
|
||
Zaruba MM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Apr 23;20(8)
|
||
doi: 10.3390/ijms20081976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31018503" target="_blank">31018503</a><a href="/pmc/articles/PMC6515652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19675546">Progeroid syndromes and UV-induced oxidative DNA damage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamenisch Y,
|
||
Berneburg M</span><br />
|
||
<span class="medgenPMjournal">J Investig Dermatol Symp Proc</span>
|
||
2009 Aug;14(1):8-14.
|
||
doi: 10.1038/jidsymp.2009.6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19675546" target="_blank">19675546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11228092">The genesis of atherosclerosis and risk factors: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tegos TJ,
|
||
Kalodiki E,
|
||
Sabetai MM,
|
||
Nicolaides AN</span><br />
|
||
<span class="medgenPMjournal">Angiology</span>
|
||
2001 Feb;52(2):89-98.
|
||
doi: 10.1177/000331970105200201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11228092" target="_blank">11228092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6519207">Euploidization of human hepatocytes from donors of different ages and both sexes compared with those from cases of Werner's syndrome and progeria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gahan PB,
|
||
Middleton J</span><br />
|
||
<span class="medgenPMjournal">Exp Gerontol</span>
|
||
1984;19(6):355-8.
|
||
doi: 10.1016/0531-5565(84)90044-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6519207" target="_blank">6519207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hutchinson-Gilford%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39390869">Redefining Aging: A Tale of Hutchinson-Gilford Progeria Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirg S,
|
||
Pednekar S</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2024 Oct;72(10):91-92.
|
||
doi: 10.59556/japi.72.0702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39390869" target="_blank">39390869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2080130">Hutchinson-Gilford syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hogan PA,
|
||
Krafchik BR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
1990 Dec;7(4):317-9.
|
||
doi: 10.1111/j.1525-1470.1990.tb01036.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2080130" target="_blank">2080130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2649013">Progeria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badame AJ</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1989 Apr;125(4):540-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2649013" target="_blank">2649013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3421979">Elevated c-myc expression in progeria fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura KD,
|
||
Turturro A,
|
||
Hart RW</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
1988 Sep 15;155(2):996-1000.
|
||
doi: 10.1016/s0006-291x(88)80595-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3421979" target="_blank">3421979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/659773">Hyaluronuria in a case of progeria. (Hutchinson-Gilford syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tokunaga M,
|
||
Wakamatsu E,
|
||
Sato K,
|
||
Satake S,
|
||
Aoyama K,
|
||
Saito K,
|
||
Sugawara M,
|
||
Yosizawa Z</span><br />
|
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<span class="medgenPMjournal">J Am Geriatr Soc</span>
|
||
1978 Jul;26(7):296-302.
|
||
doi: 10.1111/j.1532-5415.1978.tb01339.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/659773" target="_blank">659773</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hutchinson-Gilford%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27539898">Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motegi S,
|
||
Uchiyama A,
|
||
Yamada K,
|
||
Ogino S,
|
||
Yokoyama Y,
|
||
Perera B,
|
||
Takeuchi Y,
|
||
Ishikawa O</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2016 Aug;25 Suppl 3:20-7.
|
||
doi: 10.1111/exd.13086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27539898" target="_blank">27539898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27267192">Progeria and the early aging in children: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho VO,
|
||
Celli A,
|
||
Bancke Laverde BL,
|
||
Cunico C,
|
||
Santos Piedade G,
|
||
Lucas de Mello M,
|
||
Beirao Junior PS</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2016 Feb 17;22(2)
|
||
<span class="bold">PMID: </span><a href="/pubmed/27267192" target="_blank">27267192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19675546">Progeroid syndromes and UV-induced oxidative DNA damage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamenisch Y,
|
||
Berneburg M</span><br />
|
||
<span class="medgenPMjournal">J Investig Dermatol Symp Proc</span>
|
||
2009 Aug;14(1):8-14.
|
||
doi: 10.1038/jidsymp.2009.6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19675546" target="_blank">19675546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hutchinson-Gilford%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39390869">Redefining Aging: A Tale of Hutchinson-Gilford Progeria Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirg S,
|
||
Pednekar S</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2024 Oct;72(10):91-92.
|
||
doi: 10.59556/japi.72.0702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39390869" target="_blank">39390869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2649013">Progeria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badame AJ</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1989 Apr;125(4):540-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2649013" target="_blank">2649013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hutchinson-Gilford%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25327215">First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motegi S,
|
||
Yokoyama Y,
|
||
Uchiyama A,
|
||
Ogino S,
|
||
Takeuchi Y,
|
||
Yamada K,
|
||
Hattori T,
|
||
Hashizume H,
|
||
Ishikawa Y,
|
||
Goto M,
|
||
Ishikawa O</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2014 Dec;41(12):1047-52.
|
||
Epub 2014 Oct 20
|
||
doi: 10.1111/1346-8138.12657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25327215" target="_blank">25327215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15726408">Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sevenants L,
|
||
Wouters C,
|
||
De Sandre-Giovannoli A,
|
||
Devlieger H,
|
||
Devriendt K,
|
||
van den Oord JJ,
|
||
Marien K,
|
||
Lévy N,
|
||
Morren MA</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2005 May;164(5):283-6.
|
||
Epub 2005 Feb 22
|
||
doi: 10.1007/s00431-005-1635-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15726408" target="_blank">15726408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1322316">Differential expression of metalloproteinase and tissue inhibitor of metalloproteinase genes in aged human fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millis AJ,
|
||
Hoyle M,
|
||
McCue HM,
|
||
Martini H</span><br />
|
||
<span class="medgenPMjournal">Exp Cell Res</span>
|
||
1992 Aug;201(2):373-9.
|
||
doi: 10.1016/0014-4827(92)90286-h.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1322316" target="_blank">1322316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1808212">Altered response of progeria fibroblasts to epidermal growth factor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colige A,
|
||
Nusgens B,
|
||
Lapiere CM</span><br />
|
||
<span class="medgenPMjournal">J Cell Sci</span>
|
||
1991 Nov;100 ( Pt 3):649-55.
|
||
doi: 10.1242/jcs.100.3.649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1808212" target="_blank">1808212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3421979">Elevated c-myc expression in progeria fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura KD,
|
||
Turturro A,
|
||
Hart RW</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
1988 Sep 15;155(2):996-1000.
|
||
doi: 10.1016/s0006-291x(88)80595-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3421979" target="_blank">3421979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hutchinson-Gilford%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 (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">
|
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<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>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<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=C0033300%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (66)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033300%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033300%5bDISCUI%5d&test_type=Research" target="_blank">Research (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033300%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033300%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (77)</a></li>
|
||
<li><a href="/gtr/tests?term=C0033300%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0033300%5bDISCUI%5d" target="_blank">See all (93)</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=176670" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=740" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hutchinson-Gilford%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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=(hutchinson-gilford%20syndrome)%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(%22Hutchinson-Gilford%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 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=150330" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4000[geneid]" target="_blank">View LMNA variations in ClinVar</a></li><li><a href="/nuccore/209413717" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=176670" 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/Progeria/5969" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hutchinson_gilford_progeria_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hutchinson-Gilford%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7467/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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<div class="portlet brieflink">
|
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<h3>Reviews</h3>
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|
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<a href="/pubmed/20301300" 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=Hutchinson-Gilford%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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|
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<a href="/pubmed?term=Hutchinson-Gilford%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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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=46123" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=46123" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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||
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0033300[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0033300[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0033300[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
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<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=46123" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=46123" ref="log$=recordlinks">NCBI Bookshelf</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=46123" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=46123" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=46123" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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</li>
|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=46123" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb52f4a68b6b5afc7800aa">Hutchinson-Gilford syndrome</a>
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<div class="ralinkpop offscreen_noflow">Hutchinson-Gilford syndrome<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb52f284f3725e593bbedb">C0033300[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb52f1f4a390645e3f5184">C1832215[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(26)</span></a>
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<div class="ralinkpop offscreen_noflow">C1832215[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">MedGen</div>
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