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<meta name="keywords" content="C0043119, adult premature ageing syndrome, adult premature aging syndrome, adult progeria, disease or syndrome, pangeria, progeria of the adult, progeria, adult, syndrome, werner, syndrome, werner's, syndrome, werners, werner syndrome, werner's syndrome, werners syndrome, wrn, ws, 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="Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Werner syndrome (Concept Id: C0043119)
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<!--
UID=12147
ConceptID=C0043119
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Werner syndrome<span class="h1sub">(WRN)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12147</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0043119</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>Werner's syndrome; WRN</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Pangeria (51626007); Adult progeria (51626007); Adult premature aging syndrome (51626007); Werner syndrome (51626007); Progeria of the adult (51626007)</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)&#10;Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="WRN - ID: 7486 - NCBI Gene" href="/gene/7486" class="medgenPMinfo">WRN</a> (8p12)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010196" target="_blank">MONDO:0010196</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/277700" target="_blank">277700</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&amp;Expert=902">ORPHA902</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/NBK1514" target="_blank">Werner Syndrome</a></div><div>Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [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/NBK1514#werner.Summary" target="NBK1514">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Diagnosis" target="NBK1514">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Clinical_Characteristics" target="NBK1514">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Genetically_Related_Allelic_Disor" target="NBK1514">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Differential_Diagnosis" target="NBK1514">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Management" target="NBK1514">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Genetic_Counseling" target="NBK1514">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Resources" target="NBK1514">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Molecular_Genetics" target="NBK1514">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.Chapter_Notes" target="NBK1514">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1514#werner.References" target="NBK1514">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Junko Oshima  |  George M Martin  |  Fuki M Hisama   <a href="/books/NBK1514" target="NBK1514" title="NCBI Bookshelf: Werner 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 />Werner syndrome (WRN) is a rare autosomal recessive segmental progeroid syndrome. Patients exhibit not only an appearance of accelerated aging (premature graying, thinning of hair, skin atrophy and atrophy of subcutaneous fat), but also several disorders commonly associated with aging, including bilateral cataracts, diabetes mellitus, osteoporosis, premature arteriosclerosis, and a variety of benign and malignant neoplasms (summary by Oshima et al., 1996).&#13;
See also Hutchinson-Gilford progeria syndrome (HGPS; 176670), a more severe progeroid syndrome with earlier onset caused by mutation in the LMNA gene (150330).  <a target="_blank" href="http://www.omim.org/entry/277700">http://www.omim.org/entry/277700</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.<br /><br />As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer. It is not uncommon for affected individuals to develop multiple, rare cancers during their lifetime. People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/werner-syndrome">https://medlineplus.gov/genetics/condition/werner-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_7389"><div><strong>Low back pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7389</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)&#10;Click for more information.">C0024031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7389">Feature record</a> | <a href="/medgen?term=%22Low%20back%20pain%22%5BClinical%20Features%5D%20OR%207389%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1708321"><div><strong>Body ache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708321</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)&#10;Click for more information.">C0741585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1708321">Feature record</a> | <a href="/medgen?term=%22Body%20ache%22%5BClinical%20Features%5D%20OR%201708321%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10231"><div><strong>Myelodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10231</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)&#10;Click for more information.">C0026985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10231">Feature record</a> | <a href="/medgen?term=%22Myelodysplasia%22%5BClinical%20Features%5D%20OR%2010231%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10501"><div><strong>Osteosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10501</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)&#10;Click for more information.">C0029463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10501">Feature record</a> | <a href="/medgen?term=%22Osteosarcoma%22%5BClinical%20Features%5D%20OR%2010501%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_376368"><div><strong>Premature arteriosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376368</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)&#10;Click for more information.">C1848486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Arteriosclerosis occurring at an age that is younger than usual.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376368">Feature record</a> | <a href="/medgen?term=%22Premature%20arteriosclerosis%22%5BClinical%20Features%5D%20OR%20376368%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7532"><div><strong>Meningioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7532</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)&#10;Click for more information.">C0025286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7532">Feature record</a> | <a href="/medgen?term=%22Meningioma%22%5BClinical%20Features%5D%20OR%207532%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66836"><div><strong>Abnormally high-pitched voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66836</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)&#10;Click for more information.">C0241703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66836">Feature record</a> | <a href="/medgen?term=%22Abnormally%20high-pitched%20voice%22%5BClinical%20Features%5D%20OR%2066836%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892798"><div><strong>Elevated hemoglobin A1c</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892798</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)&#10;Click for more information.">C4073162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892798">Feature record</a> | <a href="/medgen?term=%22Elevated%20hemoglobin%20A1c%22%5BClinical%20Features%5D%20OR%20892798%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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)&#10;Click for more information.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_393152"><div><strong>Reduced bone mineral density</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393152</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)&#10;Click for more information.">C2674432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/393152">Feature record</a> | <a href="/medgen?term=%22Reduced%20bone%20mineral%20density%22%5BClinical%20Features%5D%20OR%20393152%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1375297"><div><strong>Achilles tendon calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375297</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)&#10;Click for more information.">C4476778</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Ectopic deposition of calcium salts in the Achilles tendon.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1375297">Feature record</a> | <a href="/medgen?term=%22Achilles%20tendon%20calcification%22%5BClinical%20Features%5D%20OR%201375297%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8350"><div><strong>Diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8350</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)&#10;Click for more information.">C0011849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A group of abnormalities characterized by hyperglycemia and glucose intolerance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8350">Feature record</a> | <a href="/medgen?term=%22Diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%208350%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5689"><div><strong>Hyperglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5689</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of glucose in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5689">Feature record</a> | <a href="/medgen?term=%22Hyperglycemia%22%5BClinical%20Features%5D%20OR%205689%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57497"><div><strong>Elevated circulating aspartate aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57497</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)&#10;Click for more information.">C0151904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57497">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20aspartate%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057497%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57740"><div><strong>Elevated circulating alanine aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57740</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)&#10;Click for more information.">C0151905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally high concentration in the circulation of alanine aminotransferase (ALT).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57740">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alanine%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057740%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_167238"><div><strong>Hypertriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167238</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)&#10;Click for more information.">C0813230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal increase in the level of triglycerides in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167238">Feature record</a> | <a href="/medgen?term=%22Hypertriglyceridemia%22%5BClinical%20Features%5D%20OR%20167238%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66809"><div><strong>Convex nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66809</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)&#10;Click for more information.">C0240538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66809">Feature record</a> | <a href="/medgen?term=%22Convex%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%2066809%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_658454"><div><strong>Alopecia of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658454</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)&#10;Click for more information.">C0574769</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/658454">Feature record</a> | <a href="/medgen?term=%22Alopecia%20of%20scalp%22%5BClinical%20Features%5D%20OR%20658454%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_325243"><div><strong>Bird-like facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325243</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)&#10;Click for more information.">C1837758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/325243">Feature record</a> | <a href="/medgen?term=%22Bird-like%20facies%22%5BClinical%20Features%5D%20OR%20325243%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3770"><div><strong>Scleroderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3770</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)&#10;Click for more information.">C0011644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3770">Feature record</a> | <a href="/medgen?term=%22Scleroderma%22%5BClinical%20Features%5D%20OR%203770%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_101793"><div><strong>Dermal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101793</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)&#10;Click for more information.">C0151514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Partial or complete wasting (atrophy) of the skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/101793">Feature record</a> | <a href="/medgen?term=%22Dermal%20atrophy%22%5BClinical%20Features%5D%20OR%20101793%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</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)&#10;Click for more information.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75524"><div><strong>Premature graying of hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75524</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)&#10;Click for more information.">C0263498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Development of gray hair at a younger than normal age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75524">Feature record</a> | <a href="/medgen?term=%22Premature%20graying%20of%20hair%22%5BClinical%20Features%5D%20OR%2075524%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_120484"><div><strong>Subcutaneous calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120484</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)&#10;Click for more information.">C0263625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120484">Feature record</a> | <a href="/medgen?term=%22Subcutaneous%20calcification%22%5BClinical%20Features%5D%20OR%20120484%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341658"><div><strong>Plantar hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341658</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)&#10;Click for more information.">C1856954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperkeratosis affecting the sole of the foot.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341658">Feature record</a> | <a href="/medgen?term=%22Plantar%20hyperkeratosis%22%5BClinical%20Features%5D%20OR%20341658%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346633"><div><strong>Prematurely aged appearance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346633</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)&#10;Click for more information.">C1857656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346633">Feature record</a> | <a href="/medgen?term=%22Prematurely%20aged%20appearance%22%5BClinical%20Features%5D%20OR%20346633%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341830"><div><strong>Progeroid facial appearance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341830</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)&#10;Click for more information.">C1857710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341830">Feature record</a> | <a href="/medgen?term=%22Progeroid%20facial%20appearance%22%5BClinical%20Features%5D%20OR%20341830%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5711"><div><strong>Hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5711</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)&#10;Click for more information.">C0020619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased functionality of the gonad.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5711">Feature record</a> | <a href="/medgen?term=%22Hypogonadism%22%5BClinical%20Features%5D%20OR%205711%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_48432"><div><strong>Retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48432</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)&#10;Click for more information.">C0035304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/48432">Feature record</a> | <a href="/medgen?term=%22Retinal%20degeneration%22%5BClinical%20Features%5D%20OR%2048432%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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)&#10;Click for more information.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated hemoglobin A1c</a></span></li></ul></li><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_658454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia of scalp</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325243" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bird-like facies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Convex nasal ridge</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alanine aminotransferase concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating aspartate aminotransferase concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperglycemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia</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_376368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature arteriosclerosis</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_5711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadism</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal degeneration</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_101793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermal atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plantar hyperkeratosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature graying of hair</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prematurely aged appearance</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid facial appearance</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scleroderma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous calcification</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_1375297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achilles tendon calcification</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced bone mineral density</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormally high-pitched voice</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meningioma</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1708321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Body ache</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low back pain</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelodysplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteosarcoma</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=C0043119[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=12147">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0043119[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=12147">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=12147" target="_blank" href="/omim/277700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1514/" ref="ncbi_uid=12147">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=12147" ref="ncbi_uid=12147">V</a></span></span><span class="TLline">Werner syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/82774" ref="tree=MeSH" title="MedGen record for DNA repair disease">DNA repair disease</a></span><ul><li><span class="matched_ds">Werner syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=960&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Werner 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/33155383">Management guideline for Werner syndrome 2020. 4. Osteoporosis associated with Werner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mori S,
Takemoto M,
Kubota Y,
Taniguchi T,
Motegi SI,
Taniguchi A,
Nakagami H,
Maezawa Y,
Koshizaka M,
Kato H,
Tsukamoto K,
Kuzuya M,
Yokote K</span><br />
<span class="medgenPMjournal">Geriatr Gerontol Int</span>
2021 Feb;21(2):146-149.
Epub 2020 Nov 5
doi: 10.1111/ggi.14078.
<span class="bold">PMID: </span><a href="/pubmed/33155383" target="_blank">33155383</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33118681">Preface to Management guideline for Werner syndrome 2020.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Takemoto M,
Yokote K</span><br />
<span class="medgenPMjournal">Geriatr Gerontol Int</span>
2021 Feb;21(2):131-132.
Epub 2020 Oct 29
doi: 10.1111/ggi.14074.
<span class="bold">PMID: </span><a href="/pubmed/33118681" target="_blank">33118681</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25182132">Clinical utility gene card for: Werner Syndrome--Update 2014.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hisama FM,
Kubisch C,
Martin GM,
Oshima J</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2015 Jun;23(6):891-.
Epub 2014 Sep 3
doi: 10.1038/ejhg.2014.171.
<span class="bold">PMID: </span><a href="/pubmed/25182132" target="_blank">25182132</a><a href="/pmc/articles/PMC4795068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22werner%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (19)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/22258520">Clinical utility gene card for: Werner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hisama FM,
Kubisch C,
Martin GM,
Oshima J</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2012 May;20(5)
Epub 2012 Jan 18
doi: 10.1038/ejhg.2011.265.
<span class="bold">PMID: </span><a href="/pubmed/22258520" target="_blank">22258520</a><a href="/pmc/articles/PMC3330230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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_114">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
2002
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
2002
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
</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/38587317">Novel WRN Helicase Inhibitors Selectively Target Microsatellite-Unstable Cancer Cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Picco G,
Rao Y,
Al Saedi A,
Lee Y,
Vieira SF,
Bhosle S,
May K,
Herranz-Ors C,
Walker SJ,
Shenje R,
Dincer C,
Gibson F,
Banerjee R,
Hewitson Z,
Werner T,
Cottom JE,
Peng Y,
Deng N,
Zhang Y,
Nartey EN,
Nickels L,
Landis P,
Conticelli D,
McCarten K,
Bush J,
Sharma M,
Lightfoot H,
House D,
Milford E,
Grant EK,
Glogowski MP,
Wagner CD,
Bantscheff M,
Rutkowska-Klute A;
Cell Model Network UK Group,
Zappacosta F,
Pettinger J,
Barthorpe S,
Eberl HC,
Jones BT,
Schneck JL,
Murphy DJ,
Voest EE,
Taygerly JP,
DeMartino MP,
Coelho MA,
Houseley J,
Sharma G,
Schwartz B,
Garnett MJ</span><br />
<span class="medgenPMjournal">Cancer Discov</span>
2024 Aug 2;14(8):1457-1475.
doi: 10.1158/2159-8290.CD-24-0052.
<span class="bold">PMID: </span><a href="/pubmed/38587317" target="_blank">38587317</a><a href="/pmc/articles/PMC7616858" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32446955">Lamin A involvement in ageing processes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cenni V,
Capanni C,
Mattioli E,
Schena E,
Squarzoni S,
Bacalini MG,
Garagnani P,
Salvioli S,
Franceschi C,
Lattanzi G</span><br />
<span class="medgenPMjournal">Ageing Res Rev</span>
2020 Sep;62:101073.
Epub 2020 May 21
doi: 10.1016/j.arr.2020.101073.
<span class="bold">PMID: </span><a href="/pubmed/32446955" target="_blank">32446955</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26883636">G-quadruplexes and helicases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mendoza O,
Bourdoncle A,
Boulé JB,
Brosh RM Jr,
Mergny JL</span><br />
<span class="medgenPMjournal">Nucleic Acids Res</span>
2016 Mar 18;44(5):1989-2006.
Epub 2016 Feb 15
doi: 10.1093/nar/gkw079.
<span class="bold">PMID: </span><a href="/pubmed/26883636" target="_blank">26883636</a><a href="/pmc/articles/PMC4797304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18295739">Scleroderma-like disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foti R,
Leonardi R,
Rondinone R,
Di Gangi M,
Leonetti C,
Canova M,
Doria A</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2008 Feb;7(4):331-9.
Epub 2008 Jan 11
doi: 10.1016/j.autrev.2007.12.004.
<span class="bold">PMID: </span><a href="/pubmed/18295739" target="_blank">18295739</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4420140">Werner's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rickards D</span><br />
<span class="medgenPMjournal">Proc R Soc Med</span>
1974 Aug;67(8):721-2.
<span class="bold">PMID: </span><a href="/pubmed/4420140" target="_blank">4420140</a><a href="/pmc/articles/PMC1645845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Werner%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 (225)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36508676">Synthetical lethality of Werner helicase and mismatch repair deficiency is mediated by p53 and PUMA in colon cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hao S,
Tong J,
Jha A,
Risnik D,
Lizardo D,
Lu X,
Goel A,
Opresko PL,
Yu J,
Zhang L</span><br />
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
2022 Dec 20;119(51):e2211775119.
Epub 2022 Dec 12
doi: 10.1073/pnas.2211775119.
<span class="bold">PMID: </span><a href="/pubmed/36508676" target="_blank">36508676</a><a href="/pmc/articles/PMC9907101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34562560">Generalized lipoatrophy syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sorkina E,
Chichkova V</span><br />
<span class="medgenPMjournal">Presse Med</span>
2021 Nov;50(3):104075.
Epub 2021 Sep 22
doi: 10.1016/j.lpm.2021.104075.
<span class="bold">PMID: </span><a href="/pubmed/34562560" target="_blank">34562560</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26993153">Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oshima J,
Sidorova JM,
Monnat RJ Jr</span><br />
<span class="medgenPMjournal">Ageing Res Rev</span>
2017 Jan;33:105-114.
Epub 2016 Mar 15
doi: 10.1016/j.arr.2016.03.002.
<span class="bold">PMID: </span><a href="/pubmed/26993153" target="_blank">26993153</a><a href="/pmc/articles/PMC5025328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4264672">Werner's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fleischmajer R,
Nedwich A</span><br />
<span class="medgenPMjournal">Am J Med</span>
1973 Jan;54(1):111-8.
doi: 10.1016/0002-9343(73)90089-2.
<span class="bold">PMID: </span><a href="/pubmed/4264672" target="_blank">4264672</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14318475">WERNER'S SYNDROME.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">EPSTEIN CJ</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
1965 Aug;63:343-5.
doi: 10.7326/0003-4819-63-2-343.
<span class="bold">PMID: </span><a href="/pubmed/14318475" target="_blank">14318475</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Werner%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 (334)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38658754">Discovery of WRN inhibitor HRO761 with synthetic lethality in MSI cancers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferretti S,
Hamon J,
de Kanter R,
Scheufler C,
Andraos-Rey R,
Barbe S,
Bechter E,
Blank J,
Bordas V,
Dammassa E,
Decker A,
Di Nanni N,
Dourdoigne M,
Gavioli E,
Hattenberger M,
Heuser A,
Hemmerlin C,
Hinrichs J,
Kerr G,
Laborde L,
Jaco I,
Núñez EJ,
Martus HJ,
Quadt C,
Reschke M,
Romanet V,
Schaeffer F,
Schoepfer J,
Schrapp M,
Strang R,
Voshol H,
Wartmann M,
Welly S,
Zécri F,
Hofmann F,
Möbitz H,
Cortés-Cros M</span><br />
<span class="medgenPMjournal">Nature</span>
2024 May;629(8011):443-449.
Epub 2024 Apr 24
doi: 10.1038/s41586-024-07350-y.
<span class="bold">PMID: </span><a href="/pubmed/38658754" target="_blank">38658754</a><a href="/pmc/articles/PMC11078746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38587317">Novel WRN Helicase Inhibitors Selectively Target Microsatellite-Unstable Cancer Cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Picco G,
Rao Y,
Al Saedi A,
Lee Y,
Vieira SF,
Bhosle S,
May K,
Herranz-Ors C,
Walker SJ,
Shenje R,
Dincer C,
Gibson F,
Banerjee R,
Hewitson Z,
Werner T,
Cottom JE,
Peng Y,
Deng N,
Zhang Y,
Nartey EN,
Nickels L,
Landis P,
Conticelli D,
McCarten K,
Bush J,
Sharma M,
Lightfoot H,
House D,
Milford E,
Grant EK,
Glogowski MP,
Wagner CD,
Bantscheff M,
Rutkowska-Klute A;
Cell Model Network UK Group,
Zappacosta F,
Pettinger J,
Barthorpe S,
Eberl HC,
Jones BT,
Schneck JL,
Murphy DJ,
Voest EE,
Taygerly JP,
DeMartino MP,
Coelho MA,
Houseley J,
Sharma G,
Schwartz B,
Garnett MJ</span><br />
<span class="medgenPMjournal">Cancer Discov</span>
2024 Aug 2;14(8):1457-1475.
doi: 10.1158/2159-8290.CD-24-0052.
<span class="bold">PMID: </span><a href="/pubmed/38587317" target="_blank">38587317</a><a href="/pmc/articles/PMC7616858" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33041245">Synthetic Lethal Interactions of RECQ Helicases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Datta A,
Dhar S,
Awate S,
Brosh RM Jr</span><br />
<span class="medgenPMjournal">Trends Cancer</span>
2021 Feb;7(2):146-161.
Epub 2020 Oct 9
doi: 10.1016/j.trecan.2020.09.001.
<span class="bold">PMID: </span><a href="/pubmed/33041245" target="_blank">33041245</a><a href="/pmc/articles/PMC7855770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27902925">Targeted inhibition of WRN helicase, replication stress and cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Orlovetskie N,
Serruya R,
Abboud-Jarrous G,
Jarrous N</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta Rev Cancer</span>
2017 Jan;1867(1):42-48.
Epub 2016 Nov 27
doi: 10.1016/j.bbcan.2016.11.004.
<span class="bold">PMID: </span><a href="/pubmed/27902925" target="_blank">27902925</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4714797">Werner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bullock JD,
Howard RO</span><br />
<span class="medgenPMjournal">Arch Ophthalmol</span>
1973 Jul;90(1):53-6.
doi: 10.1001/archopht.1973.01000050055011.
<span class="bold">PMID: </span><a href="/pubmed/4714797" target="_blank">4714797</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Werner%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 (74)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37932011">Comprehensive mapping of cell fates in microsatellite unstable cancer cells supports dual targeting of WRN and ATR.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zong D,
Koussa NC,
Cornwell JA,
Pankajam AV,
Kruhlak MJ,
Wong N,
Chari R,
Cappell SD,
Nussenzweig A</span><br />
<span class="medgenPMjournal">Genes Dev</span>
2023 Oct 1;37(19-20):913-928.
Epub 2023 Nov 6
doi: 10.1101/gad.351085.123.
<span class="bold">PMID: </span><a href="/pubmed/37932011" target="_blank">37932011</a><a href="/pmc/articles/PMC10691471" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26290387">Skin Disease in Laminopathy-Associated Premature Aging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McKenna T,
Sola Carvajal A,
Eriksson M</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2015 Nov;135(11):2577-2583.
Epub 2015 Jul 29
doi: 10.1038/jid.2015.295.
<span class="bold">PMID: </span><a href="/pubmed/26290387" target="_blank">26290387</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18295739">Scleroderma-like disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foti R,
Leonardi R,
Rondinone R,
Di Gangi M,
Leonetti C,
Canova M,
Doria A</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2008 Feb;7(4):331-9.
Epub 2008 Jan 11
doi: 10.1016/j.autrev.2007.12.004.
<span class="bold">PMID: </span><a href="/pubmed/18295739" target="_blank">18295739</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18054991">Telomere length inheritance and aging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kappei D,
Londoño-Vallejo JA</span><br />
<span class="medgenPMjournal">Mech Ageing Dev</span>
2008 Jan-Feb;129(1-2):17-26.
Epub 2007 Oct 30
doi: 10.1016/j.mad.2007.10.009.
<span class="bold">PMID: </span><a href="/pubmed/18054991" target="_blank">18054991</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4420140">Werner's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rickards D</span><br />
<span class="medgenPMjournal">Proc R Soc Med</span>
1974 Aug;67(8):721-2.
<span class="bold">PMID: </span><a href="/pubmed/4420140" target="_blank">4420140</a><a href="/pmc/articles/PMC1645845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Werner%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 (107)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38658754">Discovery of WRN inhibitor HRO761 with synthetic lethality in MSI cancers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferretti S,
Hamon J,
de Kanter R,
Scheufler C,
Andraos-Rey R,
Barbe S,
Bechter E,
Blank J,
Bordas V,
Dammassa E,
Decker A,
Di Nanni N,
Dourdoigne M,
Gavioli E,
Hattenberger M,
Heuser A,
Hemmerlin C,
Hinrichs J,
Kerr G,
Laborde L,
Jaco I,
Núñez EJ,
Martus HJ,
Quadt C,
Reschke M,
Romanet V,
Schaeffer F,
Schoepfer J,
Schrapp M,
Strang R,
Voshol H,
Wartmann M,
Welly S,
Zécri F,
Hofmann F,
Möbitz H,
Cortés-Cros M</span><br />
<span class="medgenPMjournal">Nature</span>
2024 May;629(8011):443-449.
Epub 2024 Apr 24
doi: 10.1038/s41586-024-07350-y.
<span class="bold">PMID: </span><a href="/pubmed/38658754" target="_blank">38658754</a><a href="/pmc/articles/PMC11078746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37978143">WRN Is a Promising Synthetic Lethal Target for Cancers with Microsatellite Instability (MSI).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chan EM,
Foster KJ,
Bass AJ</span><br />
<span class="medgenPMjournal">Cancer Treat Res</span>
2023;186:313-328.
doi: 10.1007/978-3-031-30065-3_17.
<span class="bold">PMID: </span><a href="/pubmed/37978143" target="_blank">37978143</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25931448">Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
Li J,
Suzuki K,
Qu J,
Wang P,
Zhou J,
Liu X,
Ren R,
Xu X,
Ocampo A,
Yuan T,
Yang J,
Li Y,
Shi L,
Guan D,
Pan H,
Duan S,
Ding Z,
Li M,
Yi F,
Bai R,
Wang Y,
Chen C,
Yang F,
Li X,
Wang Z,
Aizawa E,
Goebl A,
Soligalla RD,
Reddy P,
Esteban CR,
Tang F,
Liu GH,
Belmonte JC</span><br />
<span class="medgenPMjournal">Science</span>
2015 Jun 5;348(6239):1160-3.
Epub 2015 Apr 30
doi: 10.1126/science.aaa1356.
<span class="bold">PMID: </span><a href="/pubmed/25931448" target="_blank">25931448</a><a href="/pmc/articles/PMC4494668" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19917533">Telomerase deficiency and cancer susceptibility syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perona R,
Machado-Pinilla R,
Manguan C,
Carrillo J</span><br />
<span class="medgenPMjournal">Clin Transl Oncol</span>
2009 Nov;11(11):711-4.
doi: 10.1007/s12094-009-0432-9.
<span class="bold">PMID: </span><a href="/pubmed/19917533" target="_blank">19917533</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18054991">Telomere length inheritance and aging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kappei D,
Londoño-Vallejo JA</span><br />
<span class="medgenPMjournal">Mech Ageing Dev</span>
2008 Jan-Feb;129(1-2):17-26.
Epub 2007 Oct 30
doi: 10.1016/j.mad.2007.10.009.
<span class="bold">PMID: </span><a href="/pubmed/18054991" target="_blank">18054991</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Werner%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 (276)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/23573208">Spectrum and risk of neoplasia in Werner syndrome: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lauper JM,
Krause A,
Vaughan TL,
Monnat RJ Jr</span><br />
<span class="medgenPMjournal">PLoS One</span>
2013;8(4):e59709.
Epub 2013 Apr 1
doi: 10.1371/journal.pone.0059709.
<span class="bold">PMID: </span><a href="/pubmed/23573208" target="_blank">23573208</a><a href="/pmc/articles/PMC3613408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6214719">Syndromes of accelerated aging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martin GM</span><br />
<span class="medgenPMjournal">Natl Cancer Inst Monogr</span>
1982;60:241-7.
<span class="bold">PMID: </span><a href="/pubmed/6214719" target="_blank">6214719</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Werner%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<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>
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<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=C0043119%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
<li><a href="/gtr/tests?term=C0043119%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C0043119%5bDISCUI%5d&amp;filter=method%3A1%5F4" target="_blank">Protein analysis (1)</a></li>
<li><a href="/gtr/tests?term=C0043119%5bDISCUI%5d&amp;test_type=Research" target="_blank">Research (1)</a></li>
<li><a href="/gtr/tests?term=C0043119%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0043119%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (40)</a></li>
<li><a href="/gtr/tests?term=C0043119%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0043119%5bDISCUI%5d" target="_blank">See all (47)</a></total></li>
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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>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=277700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=902" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Werner%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22werner%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Werner%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//22258520/">EuroGenetest, 2012</a><div>Clinical utility gene card for: Werner syndrome.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=604611" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7486[geneid]" target="_blank">View WRN variations in ClinVar</a></li><li><a href="/nuccore/210032507" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=277700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Werner%27s+syndrome/7471" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/werner_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Werner%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/werner-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7885/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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