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<meta name="keywords" content="C4310620, disease or syndrome, nod2, nod2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease, nod2-associated autoinflammatory disease, nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease, susceptibility to yao syndrome, yao syndrome, yaos, 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="Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=934587
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ConceptID=C4310620
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Yao syndrome<span class="h1sub">(YAOS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934587</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:">C4310620</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Susceptibility to Yao syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Yao syndrome (768667002); NOD2-associated autoinflammatory disease (768667002); Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (768667002); NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease (768667002)</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="NOD2 - ID: 64127 - NCBI Gene" href="/gene/64127" class="medgenPMinfo">NOD2</a> (16q12.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015019" target="_blank">MONDO:0015019</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617321" target="_blank">617321</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.<br /><br />The episodes of fever and inflammation associated with Yao syndrome can last for several days and occur weeks to months apart. During these episodes, most affected individuals develop reddened, inflamed areas on the skin called erythematous patches or plaques. This reddening occurs most commonly on the face, chest, and back but can also affect the arms and legs. Episodes of joint pain and inflammation similar to arthritis are common, particularly in the legs, as is swelling of the ankles and feet. Inflammation also affects the gastrointestinal system, causing attacks of abdominal pain, bloating, and cramping with diarrhea in more than half of affected individuals. Dry eyes and dry mouth (described as "sicca-like" symptoms, which refers to dryness) are reported in about half of people with this disease. Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of various glands.<br /><br />Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic) disease, and episodes can recur for many years. <a target="_blank" href="https://medlineplus.gov/genetics/condition/yao-syndrome">https://medlineplus.gov/genetics/condition/yao-syndrome</a></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</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.">C0000737</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) and perceived to originate in the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</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.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2992"><div><strong>Chest pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2992</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.">C0008031</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 chest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2992">Feature record</a> | <a href="/medgen?term=%22Chest%20pain%22%5BClinical%20Features%5D%20OR%202992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68541"><div><strong>Myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68541</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.">C0231528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain in muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68541">Feature record</a> | <a href="/medgen?term=%22Myalgia%22%5BClinical%20Features%5D%20OR%2068541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</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.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87400"><div><strong>Ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87400</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.">C0340279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87400">Feature record</a> | <a href="/medgen?term=%22Ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2087400%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853198"><div><strong>Weight loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853198</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.">C1262477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of total body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853198">Feature record</a> | <a href="/medgen?term=%22Weight%20loss%22%5BClinical%20Features%5D%20OR%20853198%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2043"><div><strong>Arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2043</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.">C0003864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2043">Feature record</a> | <a href="/medgen?term=%22Arthritis%22%5BClinical%20Features%5D%20OR%202043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10807"><div><strong>Pleuritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10807</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.">C0032231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the pleura.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10807">Feature record</a> | <a href="/medgen?term=%22Pleuritis%22%5BClinical%20Features%5D%20OR%2010807%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2109"><div><strong>Asthma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2109</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.">C0004096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2109">Feature record</a> | <a href="/medgen?term=%22Asthma%22%5BClinical%20Features%5D%20OR%202109%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9620"><div><strong>Keratoconjunctivitis sicca</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9620</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.">C0022575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9620">Feature record</a> | <a href="/medgen?term=%22Keratoconjunctivitis%20sicca%22%5BClinical%20Features%5D%20OR%209620%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18377"><div><strong>Pericarditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18377</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.">C0031046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the sac-like covering around the heart (pericardium).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18377">Feature record</a> | <a href="/medgen?term=%22Pericarditis%22%5BClinical%20Features%5D%20OR%2018377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52961"><div><strong>Uveitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52961</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.">C0042164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of one or all portions of the uveal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52961">Feature record</a> | <a href="/medgen?term=%22Uveitis%22%5BClinical%20Features%5D%20OR%2052961%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849741"><div><strong>Inflammatory abnormality of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849741</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.">C3875321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849741">Feature record</a> | <a href="/medgen?term=%22Inflammatory%20abnormality%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20849741%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830322"><div><strong>Skin rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830322</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.">C5779628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A red eruption of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830322">Feature record</a> | <a href="/medgen?term=%22Skin%20rash%22%5BClinical%20Features%5D%20OR%201830322%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57727"><div><strong>Elevated erythrocyte sedimentation rate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57727</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.">C0151632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57727">Feature record</a> | <a href="/medgen?term=%22Elevated%20erythrocyte%20sedimentation%20rate%22%5BClinical%20Features%5D%20OR%2057727%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811468"><div><strong>Recurrent fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811468</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.">C3714772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodic (episodic or recurrent) bouts of fever.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811468">Feature record</a> | <a href="/medgen?term=%22Recurrent%20fever%22%5BClinical%20Features%5D%20OR%20811468%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_22735"><div><strong>Xerostomia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22735</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.">C0043352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dryness of the mouth due to salivary gland dysfunction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/22735">Feature record</a> | <a href="/medgen?term=%22Xerostomia%22%5BClinical%20Features%5D%20OR%2022735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57699"><div><strong>Oral ulcer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57699</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.">C0149745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57699">Feature record</a> | <a href="/medgen?term=%22Oral%20ulcer%22%5BClinical%20Features%5D%20OR%2057699%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_57699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral ulcer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_22735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xerostomia</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_57727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated erythrocyte sedimentation rate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fever</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_87400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asthma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inflammatory abnormality of the skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratoconjunctivitis sicca</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pericarditis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin rash</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uveitis</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_2043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthritis</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleuritis</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_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chest pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myalgia</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_853198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weight loss</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39278218">Yao Syndrome: An Overview of Genotypic Associations, Clinical Manifestations, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalid A,
|
||
Kaell A</span><br />
|
||
<span class="medgenPMjournal">Int Arch Allergy Immunol</span>
|
||
2025;186(2):189-202.
|
||
Epub 2024 Sep 13
|
||
doi: 10.1159/000540188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39278218" target="_blank">39278218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39430755">Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson KA,
|
||
Samec MJ,
|
||
Patel JA,
|
||
Orandi AB,
|
||
Wang B,
|
||
Crowson CS,
|
||
Loftus EV Jr,
|
||
Alavi A,
|
||
Moyer AM,
|
||
Davis JM 3rd</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1304792.
|
||
Epub 2024 Oct 4
|
||
doi: 10.3389/fimmu.2024.1304792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39430755" target="_blank">39430755</a><a href="/pmc/articles/PMC11486699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39372397">Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Wu S,
|
||
Saif A,
|
||
Hwang F,
|
||
Metzger J,
|
||
Navetta-Modrov B,
|
||
Gorevic PD,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1458118.
|
||
Epub 2024 Sep 20
|
||
doi: 10.3389/fimmu.2024.1458118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39372397" target="_blank">39372397</a><a href="/pmc/articles/PMC11449693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22yao%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39430755">Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson KA,
|
||
Samec MJ,
|
||
Patel JA,
|
||
Orandi AB,
|
||
Wang B,
|
||
Crowson CS,
|
||
Loftus EV Jr,
|
||
Alavi A,
|
||
Moyer AM,
|
||
Davis JM 3rd</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1304792.
|
||
Epub 2024 Oct 4
|
||
doi: 10.3389/fimmu.2024.1304792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39430755" target="_blank">39430755</a><a href="/pmc/articles/PMC11486699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39372397">Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Wu S,
|
||
Saif A,
|
||
Hwang F,
|
||
Metzger J,
|
||
Navetta-Modrov B,
|
||
Gorevic PD,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1458118.
|
||
Epub 2024 Sep 20
|
||
doi: 10.3389/fimmu.2024.1458118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39372397" target="_blank">39372397</a><a href="/pmc/articles/PMC11449693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38348033">The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karamanakos A,
|
||
Vougiouka O,
|
||
Sapountzi E,
|
||
Venetsanopoulou AI,
|
||
Tektonidou MG,
|
||
Germenis AE,
|
||
Sfikakis PP,
|
||
Laskari K</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1342668.
|
||
Epub 2024 Jan 29
|
||
doi: 10.3389/fimmu.2024.1342668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38348033" target="_blank">38348033</a><a href="/pmc/articles/PMC10859468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37928541">Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Deng Z,
|
||
Navetta-Modrov B,
|
||
Yang J,
|
||
Yun M,
|
||
Aroniadis O,
|
||
Gorevic P,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1265404.
|
||
Epub 2023 Oct 19
|
||
doi: 10.3389/fimmu.2023.1265404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37928541" target="_blank">37928541</a><a href="/pmc/articles/PMC10620916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30159790">A Chinese case series of Yao syndrome and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Wu D,
|
||
Li J,
|
||
Shen M,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2018 Dec;37(12):3449-3454.
|
||
Epub 2018 Aug 29
|
||
doi: 10.1007/s10067-018-4274-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30159790" target="_blank">30159790</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Yao%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39278218">Yao Syndrome: An Overview of Genotypic Associations, Clinical Manifestations, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalid A,
|
||
Kaell A</span><br />
|
||
<span class="medgenPMjournal">Int Arch Allergy Immunol</span>
|
||
2025;186(2):189-202.
|
||
Epub 2024 Sep 13
|
||
doi: 10.1159/000540188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39278218" target="_blank">39278218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38965064">Yao syndrome: a novel systemic autoinflammatory disease with cutaneous manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shakhashiro M,
|
||
Sadeghian S,
|
||
Newcomer J,
|
||
Marzano AV,
|
||
Maronese CA,
|
||
Davis JM 3rd,
|
||
Alavi A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2025 Jan;64(1):44-50.
|
||
Epub 2024 Jul 4
|
||
doi: 10.1111/ijd.17350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38965064" target="_blank">38965064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39430755">Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson KA,
|
||
Samec MJ,
|
||
Patel JA,
|
||
Orandi AB,
|
||
Wang B,
|
||
Crowson CS,
|
||
Loftus EV Jr,
|
||
Alavi A,
|
||
Moyer AM,
|
||
Davis JM 3rd</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1304792.
|
||
Epub 2024 Oct 4
|
||
doi: 10.3389/fimmu.2024.1304792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39430755" target="_blank">39430755</a><a href="/pmc/articles/PMC11486699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39372397">Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Wu S,
|
||
Saif A,
|
||
Hwang F,
|
||
Metzger J,
|
||
Navetta-Modrov B,
|
||
Gorevic PD,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1458118.
|
||
Epub 2024 Sep 20
|
||
doi: 10.3389/fimmu.2024.1458118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39372397" target="_blank">39372397</a><a href="/pmc/articles/PMC11449693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37928541">Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Deng Z,
|
||
Navetta-Modrov B,
|
||
Yang J,
|
||
Yun M,
|
||
Aroniadis O,
|
||
Gorevic P,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1265404.
|
||
Epub 2023 Oct 19
|
||
doi: 10.3389/fimmu.2023.1265404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37928541" target="_blank">37928541</a><a href="/pmc/articles/PMC10620916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Yao%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38965064">Yao syndrome: a novel systemic autoinflammatory disease with cutaneous manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shakhashiro M,
|
||
Sadeghian S,
|
||
Newcomer J,
|
||
Marzano AV,
|
||
Maronese CA,
|
||
Davis JM 3rd,
|
||
Alavi A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2025 Jan;64(1):44-50.
|
||
Epub 2024 Jul 4
|
||
doi: 10.1111/ijd.17350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38965064" target="_blank">38965064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39290705">Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Huang X,
|
||
Shen M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1444542.
|
||
Epub 2024 Sep 3
|
||
doi: 10.3389/fimmu.2024.1444542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39290705" target="_blank">39290705</a><a href="/pmc/articles/PMC11406172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38348033">The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karamanakos A,
|
||
Vougiouka O,
|
||
Sapountzi E,
|
||
Venetsanopoulou AI,
|
||
Tektonidou MG,
|
||
Germenis AE,
|
||
Sfikakis PP,
|
||
Laskari K</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1342668.
|
||
Epub 2024 Jan 29
|
||
doi: 10.3389/fimmu.2024.1342668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38348033" target="_blank">38348033</a><a href="/pmc/articles/PMC10859468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30159790">A Chinese case series of Yao syndrome and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Wu D,
|
||
Li J,
|
||
Shen M,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2018 Dec;37(12):3449-3454.
|
||
Epub 2018 Aug 29
|
||
doi: 10.1007/s10067-018-4274-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30159790" target="_blank">30159790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27984003">A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Q,
|
||
Shen B</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2017 Mar;130(3):365.e13-365.e18.
|
||
Epub 2016 Oct 28
|
||
doi: 10.1016/j.amjmed.2016.09.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27984003" target="_blank">27984003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Yao%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30601168">Coincidence of NOD2-Associated Autoinflammatory Disease (Yao Syndrome) and HCV Infection With Fatal Consequences: Interaction Between Genes and Environment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trueb B,
|
||
Zhuang L,
|
||
Keller I,
|
||
Köckritz LV,
|
||
Kuchen S,
|
||
Dufour JF,
|
||
Villiger PM</span><br />
|
||
<span class="medgenPMjournal">J Clin Rheumatol</span>
|
||
2021 Dec 1;27(8S):S592-S594.
|
||
doi: 10.1097/RHU.0000000000000963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30601168" target="_blank">30601168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31155445">Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hua Y,
|
||
Wu D,
|
||
Shen M,
|
||
Yu K,
|
||
Zhang W,
|
||
Zeng X</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2019 Dec;49(3):446-452.
|
||
Epub 2019 May 11
|
||
doi: 10.1016/j.semarthrit.2019.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31155445" target="_blank">31155445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27984003">A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Q,
|
||
Shen B</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2017 Mar;130(3):365.e13-365.e18.
|
||
Epub 2016 Oct 28
|
||
doi: 10.1016/j.amjmed.2016.09.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27984003" target="_blank">27984003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Yao%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39430755">Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson KA,
|
||
Samec MJ,
|
||
Patel JA,
|
||
Orandi AB,
|
||
Wang B,
|
||
Crowson CS,
|
||
Loftus EV Jr,
|
||
Alavi A,
|
||
Moyer AM,
|
||
Davis JM 3rd</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1304792.
|
||
Epub 2024 Oct 4
|
||
doi: 10.3389/fimmu.2024.1304792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39430755" target="_blank">39430755</a><a href="/pmc/articles/PMC11486699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38348033">The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karamanakos A,
|
||
Vougiouka O,
|
||
Sapountzi E,
|
||
Venetsanopoulou AI,
|
||
Tektonidou MG,
|
||
Germenis AE,
|
||
Sfikakis PP,
|
||
Laskari K</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1342668.
|
||
Epub 2024 Jan 29
|
||
doi: 10.3389/fimmu.2024.1342668.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38348033" target="_blank">38348033</a><a href="/pmc/articles/PMC10859468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32115236">Neurological manifestations of autoinflammatory diseases in Chinese adult patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qin W,
|
||
Wu D,
|
||
Luo Y,
|
||
Zhao M,
|
||
Wang Y,
|
||
Shi X,
|
||
Zhou L,
|
||
Yu W,
|
||
Sun Y,
|
||
Wang R,
|
||
Zhang W,
|
||
Liu M,
|
||
Shen M</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2020 Dec;50(6):1500-1506.
|
||
Epub 2020 Feb 3
|
||
doi: 10.1016/j.semarthrit.2019.12.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32115236" target="_blank">32115236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31155445">Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hua Y,
|
||
Wu D,
|
||
Shen M,
|
||
Yu K,
|
||
Zhang W,
|
||
Zeng X</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2019 Dec;49(3):446-452.
|
||
Epub 2019 May 11
|
||
doi: 10.1016/j.semarthrit.2019.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31155445" target="_blank">31155445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Yao%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 (4)</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">
|
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<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310620%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310620%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310620%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310620%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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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=617321" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Yao%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=(%22yao%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></ul></div>
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