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<meta name="keywords" content="C4310614, aipds, autoinflammation, panniculitis and dermatosis syndrome, autoinflammation, panniculitis, and dermatosis syndrome, autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, disease or syndrome, infantile-onset periodic fever, panniculitis, dermatosis syndrome, infantile-onset periodic fever-panniculitis-dermatosis syndrome, oras, otu deubiquitinase with linear linkage specificity related autoinflammatory syndrome, otulin, otulin (otu deubiquitinase with linear linkage specificity) related autoinflammatory syndrome, otulin deficiency, otulin-related autoinflammatory syndrome, otulipenia, 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="Autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome (AIPDSB) is an autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP; 123260), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Infantile-onset periodic fever-panniculitis-dermatosis syndrome (Concept Id: C4310614)
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<!--
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||
UID=934581
|
||
ConceptID=C4310614
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Infantile-onset periodic fever-panniculitis-dermatosis syndrome<span class="h1sub">(ORAS; AIPDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934581</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:">C4310614</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>Autoinflammation, panniculitis, and dermatosis syndrome; AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL RECESSIVE; OTULIN-RELATED AUTOINFLAMMATORY SYNDROME; OTULIPENIA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Otulipenia (765435009); OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome (765435009); OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (765435009); OTULIN-related autoinflammatory syndrome (765435009); Infantile-onset periodic fever, panniculitis, dermatosis syndrome (765435009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="OTULIN - ID: 90268 - NCBI Gene" href="/gene/90268" class="medgenPMinfo">OTULIN</a> (5p15.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014912" target="_blank">MONDO:0014912</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617099" target="_blank">617099</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500062">ORPHA500062</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">Autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome (AIPDSB) is an autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP; 123260), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<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 />Otulipenia is characterized by abnormal inflammation throughout the body. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, the uncontrolled inflammation that occurs in otulipenia can damage many of the body's tissues and organs, including the gastrointestinal system, joints, and skin. Disorders such as otulipenia that result from abnormally increased inflammation are known as autoinflammatory diseases.<br /><br />Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen joints; and skin rashes. The skin rashes are due to inflammation of the layer of fatty tissue under the skin (panniculitis), which causes painful red bumps. Some people with otulipenia have an abnormal distribution of fatty tissue in their bodies (lipodystrophy). Affected infants have difficulty growing and gaining weight at the expected rate (failure to thrive). Damage to the body's tissues and organs caused by inflammation is life-threatening if the condition is not treated. <a target="_blank" href="https://medlineplus.gov/genetics/condition/otulipenia">https://medlineplus.gov/genetics/condition/otulipenia</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_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_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_12054"><div><strong>Vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12054</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.">C0042384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of blood vessel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12054">Feature record</a> | <a href="/medgen?term=%22Vasculitis%22%5BClinical%20Features%5D%20OR%2012054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358083"><div><strong>Failure to thrive in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358083</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.">C1867873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358083">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%20in%20infancy%22%5BClinical%20Features%5D%20OR%20358083%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_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</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.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6111"><div><strong>Lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6111</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.">C0023787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Degenerative changes of the fat tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6111">Feature record</a> | <a href="/medgen?term=%22Lipodystrophy%22%5BClinical%20Features%5D%20OR%206111%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56258"><div><strong>Joint swelling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56258</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.">C0152031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of swelling in a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56258">Feature record</a> | <a href="/medgen?term=%22Joint%20swelling%22%5BClinical%20Features%5D%20OR%2056258%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9736"><div><strong>Leukocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9736</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.">C0023518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the number of leukocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9736">Feature record</a> | <a href="/medgen?term=%22Leukocytosis%22%5BClinical%20Features%5D%20OR%209736%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45301"><div><strong>Panniculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45301</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.">C0030326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of subcutaneous adipose tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45301">Feature record</a> | <a href="/medgen?term=%22Panniculitis%22%5BClinical%20Features%5D%20OR%2045301%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57729"><div><strong>Neutrophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57729</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.">C0151683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased number of neutrophils circulating in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57729">Feature record</a> | <a href="/medgen?term=%22Neutrophilia%22%5BClinical%20Features%5D%20OR%2057729%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66800"><div><strong>Increased circulating IgA concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66800</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.">C0239984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased level of immunoglobulin A in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66800">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgA%20concentration%22%5BClinical%20Features%5D%20OR%2066800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96929"><div><strong>Lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96929</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.">C0497156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement (swelling) of a lymph node.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96929">Feature record</a> | <a href="/medgen?term=%22Lymphadenopathy%22%5BClinical%20Features%5D%20OR%2096929%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333454"><div><strong>Increased circulating IgM level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333454</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.">C1839972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased level of immunoglobulin M in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333454">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgM%20level%22%5BClinical%20Features%5D%20OR%20333454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1704350"><div><strong>Increased proportion of CD4-positive T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1704350</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.">C5139204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1704350">Feature record</a> | <a href="/medgen?term=%22Increased%20proportion%20of%20CD4-positive%20T%20cells%22%5BClinical%20Features%5D%20OR%201704350%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_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_892906"><div><strong>Elevated circulating C-reactive protein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892906</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.">C4023452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal elevation of the C-reactive protein level in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892906">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20C-reactive%20protein%20concentration%22%5BClinical%20Features%5D%20OR%20892906%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating C-reactive protein concentration</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_12054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis</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_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><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 immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgA concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgM level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1704350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased proportion of CD4-positive T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphadenopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutrophilia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Panniculitis</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></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_56258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint swelling</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy</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_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_358083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive in infancy</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></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=C4310614[DISCUI]&test_type=Clinical" ref="ncbi_uid=934581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934581" target="_blank" href="/omim/615712">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934581" ref="ncbi_uid=934581">V</a></span></span><span class="TLline">Infantile-onset periodic fever-panniculitis-dermatosis 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/11688" ref="tree=MeSH" title="MedGen record for Syndromic disease">Syndromic disease</a></span><ul><li><span class="TLline"><a href="/medgen/855741" ref="tree=MeSH" title="MedGen record for Autoinflammatory syndrome">Autoinflammatory syndrome</a></span><ul><li><span class="matched_ds">Infantile-onset periodic fever-panniculitis-dermatosis syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/26122601">Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilmshurst JM,
|
||
Gaillard WD,
|
||
Vinayan KP,
|
||
Tsuchida TN,
|
||
Plouin P,
|
||
Van Bogaert P,
|
||
Carrizosa J,
|
||
Elia M,
|
||
Craiu D,
|
||
Jovic NJ,
|
||
Nordli D,
|
||
Hirtz D,
|
||
Wong V,
|
||
Glauser T,
|
||
Mizrahi EM,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2015 Aug;56(8):1185-97.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1111/epi.13057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26122601" target="_blank">26122601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32593896">Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitta N,
|
||
Menon RN,
|
||
McTague A,
|
||
Radhakrishnan A,
|
||
Sundaram S,
|
||
Cherian A,
|
||
Madhavilatha GK,
|
||
Mannan AU,
|
||
Nampoothiri S,
|
||
Thomas SV</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2020 Oct;166:106398.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1016/j.eplepsyres.2020.106398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32593896" target="_blank">32593896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31860957">A potential cause of adolescent onset Dyke-Davidoff-Masson syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Zhang T,
|
||
Li B,
|
||
Li J,
|
||
Wang L,
|
||
Jiang Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Dec;98(51):e18075.
|
||
doi: 10.1097/MD.0000000000018075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31860957" target="_blank">31860957</a><a href="/pmc/articles/PMC6940116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26122601">Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilmshurst JM,
|
||
Gaillard WD,
|
||
Vinayan KP,
|
||
Tsuchida TN,
|
||
Plouin P,
|
||
Van Bogaert P,
|
||
Carrizosa J,
|
||
Elia M,
|
||
Craiu D,
|
||
Jovic NJ,
|
||
Nordli D,
|
||
Hirtz D,
|
||
Wong V,
|
||
Glauser T,
|
||
Mizrahi EM,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2015 Aug;56(8):1185-97.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1111/epi.13057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26122601" target="_blank">26122601</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23314536">Clinical recognition and aspects of the cerebral folate deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaekers V,
|
||
Sequeira JM,
|
||
Quadros EV</span><br />
|
||
<span class="medgenPMjournal">Clin Chem Lab Med</span>
|
||
2013 Mar 1;51(3):497-511.
|
||
doi: 10.1515/cclm-2012-0543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23314536" target="_blank">23314536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7341540">Neurophysiological investigations in two cases of Alexander's disease with infantile onset.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia A,
|
||
Nardelli E,
|
||
Pampiglione G,
|
||
Harden A</span><br />
|
||
<span class="medgenPMjournal">Ital J Neurol Sci</span>
|
||
1980 Jun;1(3):131-8.
|
||
doi: 10.1007/BF02335842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7341540" target="_blank">7341540</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile-onset%20periodic%20fever-panniculitis-dermatosis%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33815380">Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suri D,
|
||
Rawat A,
|
||
Jindal AK,
|
||
Vignesh P,
|
||
Gupta A,
|
||
Pilania RK,
|
||
Joshi V,
|
||
Arora K,
|
||
Kumrah R,
|
||
Anjani G,
|
||
Aggarwal A,
|
||
Phadke S,
|
||
Aboobacker FN,
|
||
George B,
|
||
Edison ES,
|
||
Desai M,
|
||
Taur P,
|
||
Gowri V,
|
||
Pandrowala AA,
|
||
Bhattad S,
|
||
Kanakia S,
|
||
Gottorno M,
|
||
Ceccherini I,
|
||
Almeida de Jesus A,
|
||
Goldbach-Mansky R,
|
||
Hershfield MS,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:630691.
|
||
Epub 2021 Mar 19
|
||
doi: 10.3389/fimmu.2021.630691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33815380" target="_blank">33815380</a><a href="/pmc/articles/PMC8017183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31860957">A potential cause of adolescent onset Dyke-Davidoff-Masson syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Zhang T,
|
||
Li B,
|
||
Li J,
|
||
Wang L,
|
||
Jiang Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Dec;98(51):e18075.
|
||
doi: 10.1097/MD.0000000000018075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31860957" target="_blank">31860957</a><a href="/pmc/articles/PMC6940116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28975215">Infantile-Onset Fever and Urticaria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sukumaran S,
|
||
Vijayan V</span><br />
|
||
<span class="medgenPMjournal">JAMA Pediatr</span>
|
||
2017 Nov 1;171(11):1122-1123.
|
||
doi: 10.1001/jamapediatrics.2017.2531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28975215" target="_blank">28975215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26122601">Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilmshurst JM,
|
||
Gaillard WD,
|
||
Vinayan KP,
|
||
Tsuchida TN,
|
||
Plouin P,
|
||
Van Bogaert P,
|
||
Carrizosa J,
|
||
Elia M,
|
||
Craiu D,
|
||
Jovic NJ,
|
||
Nordli D,
|
||
Hirtz D,
|
||
Wong V,
|
||
Glauser T,
|
||
Mizrahi EM,
|
||
Cross JH</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2015 Aug;56(8):1185-97.
|
||
Epub 2015 Jun 30
|
||
doi: 10.1111/epi.13057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26122601" target="_blank">26122601</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23314536">Clinical recognition and aspects of the cerebral folate deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaekers V,
|
||
Sequeira JM,
|
||
Quadros EV</span><br />
|
||
<span class="medgenPMjournal">Clin Chem Lab Med</span>
|
||
2013 Mar 1;51(3):497-511.
|
||
doi: 10.1515/cclm-2012-0543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23314536" target="_blank">23314536</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile-onset%20periodic%20fever-panniculitis-dermatosis%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 (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31860957">A potential cause of adolescent onset Dyke-Davidoff-Masson syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Zhang T,
|
||
Li B,
|
||
Li J,
|
||
Wang L,
|
||
Jiang Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Dec;98(51):e18075.
|
||
doi: 10.1097/MD.0000000000018075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31860957" target="_blank">31860957</a><a href="/pmc/articles/PMC6940116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27599728">Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuisset JM,
|
||
Sukno S,
|
||
Trauffler A,
|
||
Latour P,
|
||
Dobbelaere D,
|
||
Michaud L,
|
||
Vallée L</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2016 Sep 6;10(1):241.
|
||
doi: 10.1186/s13256-016-1038-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27599728" target="_blank">27599728</a><a href="/pmc/articles/PMC5011888" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23314536">Clinical recognition and aspects of the cerebral folate deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaekers V,
|
||
Sequeira JM,
|
||
Quadros EV</span><br />
|
||
<span class="medgenPMjournal">Clin Chem Lab Med</span>
|
||
2013 Mar 1;51(3):497-511.
|
||
doi: 10.1515/cclm-2012-0543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23314536" target="_blank">23314536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19900826">Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schara U,
|
||
Christen HJ,
|
||
Durmus H,
|
||
Hietala M,
|
||
Krabetz K,
|
||
Rodolico C,
|
||
Schreiber G,
|
||
Topaloglu H,
|
||
Talim B,
|
||
Voss W,
|
||
Pihko H,
|
||
Abicht A,
|
||
Müller JS,
|
||
Lochmüller H</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2010 Jul;14(4):326-33.
|
||
Epub 2009 Nov 8
|
||
doi: 10.1016/j.ejpn.2009.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19900826" target="_blank">19900826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18836058">Infantile-onset diabetes mellitus: a 1-year follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganesh R,
|
||
Arvindkumar R,
|
||
Vasanthi T</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2009 Apr;48(3):271-4.
|
||
Epub 2008 Oct 3
|
||
doi: 10.1177/0009922808324950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18836058" target="_blank">18836058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile-onset%20periodic%20fever-panniculitis-dermatosis%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31860957">A potential cause of adolescent onset Dyke-Davidoff-Masson syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Zhang T,
|
||
Li B,
|
||
Li J,
|
||
Wang L,
|
||
Jiang Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Dec;98(51):e18075.
|
||
doi: 10.1097/MD.0000000000018075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31860957" target="_blank">31860957</a><a href="/pmc/articles/PMC6940116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27061943">Phenotypic insights into ADCY5-associated disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang FC,
|
||
Westenberger A,
|
||
Dale RC,
|
||
Smith M,
|
||
Pall HS,
|
||
Perez-Dueñas B,
|
||
Grattan-Smith P,
|
||
Ouvrier RA,
|
||
Mahant N,
|
||
Hanna BC,
|
||
Hunter M,
|
||
Lawson JA,
|
||
Max C,
|
||
Sachdev R,
|
||
Meyer E,
|
||
Crimmins D,
|
||
Pryor D,
|
||
Morris JG,
|
||
Münchau A,
|
||
Grozeva D,
|
||
Carss KJ,
|
||
Raymond L,
|
||
Kurian MA,
|
||
Klein C,
|
||
Fung VS</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2016 Jul;31(7):1033-40.
|
||
Epub 2016 Apr 8
|
||
doi: 10.1002/mds.26598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27061943" target="_blank">27061943</a><a href="/pmc/articles/PMC4950003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23314536">Clinical recognition and aspects of the cerebral folate deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaekers V,
|
||
Sequeira JM,
|
||
Quadros EV</span><br />
|
||
<span class="medgenPMjournal">Clin Chem Lab Med</span>
|
||
2013 Mar 1;51(3):497-511.
|
||
doi: 10.1515/cclm-2012-0543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23314536" target="_blank">23314536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19389148">An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kossoff EH,
|
||
Ferenc L,
|
||
Comi AM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2009 Sep;50(9):2154-7.
|
||
Epub 2009 Apr 6
|
||
doi: 10.1111/j.1528-1167.2009.02072.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19389148" target="_blank">19389148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7341540">Neurophysiological investigations in two cases of Alexander's disease with infantile onset.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia A,
|
||
Nardelli E,
|
||
Pampiglione G,
|
||
Harden A</span><br />
|
||
<span class="medgenPMjournal">Ital J Neurol Sci</span>
|
||
1980 Jun;1(3):131-8.
|
||
doi: 10.1007/BF02335842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7341540" target="_blank">7341540</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile-onset%20periodic%20fever-panniculitis-dermatosis%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32593896">Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitta N,
|
||
Menon RN,
|
||
McTague A,
|
||
Radhakrishnan A,
|
||
Sundaram S,
|
||
Cherian A,
|
||
Madhavilatha GK,
|
||
Mannan AU,
|
||
Nampoothiri S,
|
||
Thomas SV</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2020 Oct;166:106398.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1016/j.eplepsyres.2020.106398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32593896" target="_blank">32593896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31860957">A potential cause of adolescent onset Dyke-Davidoff-Masson syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Zhang T,
|
||
Li B,
|
||
Li J,
|
||
Wang L,
|
||
Jiang Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Dec;98(51):e18075.
|
||
doi: 10.1097/MD.0000000000018075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31860957" target="_blank">31860957</a><a href="/pmc/articles/PMC6940116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27250337">Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Degtyareva AV,
|
||
Mikhailova SV,
|
||
Zakharova EY,
|
||
Tumanova EL,
|
||
Puchkova AA</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2016 Jun 1;10(1):143.
|
||
doi: 10.1186/s13256-016-0925-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27250337" target="_blank">27250337</a><a href="/pmc/articles/PMC4888417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27170158">Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bi W,
|
||
Glass IA,
|
||
Muzny DM,
|
||
Gibbs RA,
|
||
Eng CM,
|
||
Yang Y,
|
||
Sun A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Aug;170(8):2181-5.
|
||
Epub 2016 May 12
|
||
doi: 10.1002/ajmg.a.37727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27170158" target="_blank">27170158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22719002">Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
|
||
Ellis R,
|
||
Reavey E,
|
||
Forbes GH,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Aug;135(Pt 8):2329-36.
|
||
Epub 2012 Jun 19
|
||
doi: 10.1093/brain/aws151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22719002" target="_blank">22719002</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile-onset%20periodic%20fever-panniculitis-dermatosis%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 (5)</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>
|
||
|
||
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|
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|
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|
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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><li><a href="/gtr/tests?term=C4310614%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310614%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310614%5bDISCUI%5d" target="_blank">See all (9)</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>
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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=617099" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=500062" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/autoinflammation_panniculitis_and_dermatosis_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/otulipenia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13198/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Infantile-onset%20periodic%20fever-panniculitis-dermatosis%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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|
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=934581" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=934581" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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||
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||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4310614[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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||
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|
||
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4310614[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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|
||
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|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=934581" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=934581" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=934581" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=934581" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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|
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||
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<h3>Recent activity</h3>
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