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<meta name="keywords" content="C1851347, disease or syndrome, dominant familial mediterranean fever, familial mediterranean fever, ad, familial mediterranean fever, autosomal dominant, fmf, autosomal dominant, mefv, 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="Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=341987
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ConceptID=C1851347
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial Mediterranean fever, autosomal dominant</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341987</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:">C1851347</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>Dominant Familial Mediterranean Fever; FMF, AUTOSOMAL DOMINANT</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MEFV - ID: 4210 - NCBI Gene" href="/gene/4210" class="medgenPMinfo">MEFV</a> (16p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007601" target="_blank">MONDO:0007601</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/134610" target="_blank">134610</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1227" target="_blank">Familial Mediterranean Fever</a></div><div>Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1227#fmf.Summary" target="NBK1227">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.GeneReview_Scope" target="NBK1227">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Diagnosis" target="NBK1227">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Clinical_Characteristics" target="NBK1227">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Genetically_Related_Allelic_Disorder" target="NBK1227">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Differential_Diagnosis" target="NBK1227">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Management" target="NBK1227">Management</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Genetic_Counseling" target="NBK1227">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Resources" target="NBK1227">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Molecular_Genetics" target="NBK1227">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.Chapter_Notes" target="NBK1227">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1227#fmf.References" target="NBK1227">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mordechai Shohat <a href="/books/NBK1227" target="NBK1227" title="NCBI Bookshelf: Familial Mediterranean Fever">view full author information</a></div></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 />The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. Episodes generally occur once a month, and in affected women of reproductive age, attacks often correspond with menstruation or ovulation. However, the length of time between episodes can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.<br /><br />Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-mediterranean-fever">https://medlineplus.gov/genetics/condition/familial-mediterranean-fever</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_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_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120633"><div><strong>Renal amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120633</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.">C0268382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120633">Feature record</a> | <a href="/medgen?term=%22Renal%20amyloidosis%22%5BClinical%20Features%5D%20OR%20120633%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56408"><div><strong>Polyarticular arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56408</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.">C0162323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain and inflammation in more than five joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56408">Feature record</a> | <a href="/medgen?term=%22Polyarticular%20arthritis%22%5BClinical%20Features%5D%20OR%2056408%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_41855"><div><strong>Erysipelas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41855</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.">C0014733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41855">Feature record</a> | <a href="/medgen?term=%22Erysipelas%22%5BClinical%20Features%5D%20OR%2041855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14697"><div><strong>Peritonitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14697</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.">C0031154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the peritoneum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14697">Feature record</a> | <a href="/medgen?term=%22Peritonitis%22%5BClinical%20Features%5D%20OR%2014697%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="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_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 genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</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_41855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erysipelas</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peritonitis</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_56408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyarticular 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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031069[DISCUI]&test_type=Clinical" ref="ncbi_uid=45811">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=45811" target="_blank" href="/omim/249100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1227/" ref="ncbi_uid=45811">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=45811" ref="ncbi_uid=45811">V</a></span></span><span class="TLline"><a href="/medgen/45811" ref="tree=GTR&ncbi_uid=45811&link_uid=45811" title="View MedGen record for 'Familial Mediterranean fever'">Familial Mediterranean fever</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN293506[DISCUI]&test_type=Clinical" ref="ncbi_uid=976601">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/976601" ref="tree=GTR&ncbi_uid=976601&link_uid=976601" title="View MedGen record for 'Autosomal recessive familial Mediterranean fever'">Autosomal recessive familial Mediterranean fever</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851347[DISCUI]&test_type=Clinical" ref="ncbi_uid=341987">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341987" target="_blank" href="/omim/134610">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1227/" ref="ncbi_uid=341987">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341987" ref="ncbi_uid=341987">V</a></span></span><span class="TLline">Familial Mediterranean fever, autosomal dominant</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843073" ref="tree=MeSH" title="MedGen record for Autoinflammatory syndrome with immune deficiency">Autoinflammatory syndrome with immune deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/45811" ref="tree=MeSH" title="MedGen record for Familial Mediterranean fever">Familial Mediterranean fever</a></span><ul><li><span class="matched_ds">Familial Mediterranean fever, autosomal dominant</span></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/32806879">Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tufan A,
|
||
Lachmann HJ</span><br />
|
||
<span class="medgenPMjournal">Turk J Med Sci</span>
|
||
2020 Nov 3;50(SI-2):1591-1610.
|
||
doi: 10.3906/sag-2008-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32806879" target="_blank">32806879</a><a href="/pmc/articles/PMC7672358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31018962">Classification criteria for autoinflammatory recurrent fevers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gattorno M,
|
||
Hofer M,
|
||
Federici S,
|
||
Vanoni F,
|
||
Bovis F,
|
||
Aksentijevich I,
|
||
Anton J,
|
||
Arostegui JI,
|
||
Barron K,
|
||
Ben-Cherit E,
|
||
Brogan PA,
|
||
Cantarini L,
|
||
Ceccherini I,
|
||
De Benedetti F,
|
||
Dedeoglu F,
|
||
Demirkaya E,
|
||
Frenkel J,
|
||
Goldbach-Mansky R,
|
||
Gul A,
|
||
Hentgen V,
|
||
Hoffman H,
|
||
Kallinich T,
|
||
Kone-Paut I,
|
||
Kuemmerle-Deschner J,
|
||
Lachmann HJ,
|
||
Laxer RM,
|
||
Livneh A,
|
||
Obici L,
|
||
Ozen S,
|
||
Rowczenio D,
|
||
Russo R,
|
||
Shinar Y,
|
||
Simon A,
|
||
Toplak N,
|
||
Touitou I,
|
||
Uziel Y,
|
||
van Gijn M,
|
||
Foell D,
|
||
Garassino C,
|
||
Kastner D,
|
||
Martini A,
|
||
Sormani MP,
|
||
Ruperto N;
|
||
Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2019 Aug;78(8):1025-1032.
|
||
Epub 2019 Apr 24
|
||
doi: 10.1136/annrheumdis-2019-215048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31018962" target="_blank">31018962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26802180">EULAR recommendations for the management of familial Mediterranean fever.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozen S,
|
||
Demirkaya E,
|
||
Erer B,
|
||
Livneh A,
|
||
Ben-Chetrit E,
|
||
Giancane G,
|
||
Ozdogan H,
|
||
Abu I,
|
||
Gattorno M,
|
||
Hawkins PN,
|
||
Yuce S,
|
||
Kallinich T,
|
||
Bilginer Y,
|
||
Kastner D,
|
||
Carmona L</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2016 Apr;75(4):644-51.
|
||
Epub 2016 Jan 22
|
||
doi: 10.1136/annrheumdis-2015-208690.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26802180" target="_blank">26802180</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20mediterranean%20fever%2C%20autosomal%20dominant)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (283)</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>
|
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<div class="nl"><a target="_blank" href="/pubmed/33331943">Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach.</a></div>
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Sag E,
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Ben-Chetrit E,
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Gül A,
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Hashkes PJ,
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Kone-Paut I,
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Lachmann HJ,
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Tsitsami E,
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Twilt M,
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Kuemmerle-Deschner JB</span><br />
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<span class="medgenPMjournal">Rheumatology (Oxford)</span>
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|
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<span class="bold">PMID: </span><a href="/pubmed/33331943" target="_blank">33331943</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30686512">Familial Mediterranean Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ozdogan H,
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Lopalco G,
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Emmi G,
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Vannozzi L,
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Bacherini D,
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Franceschini R,
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<div class="nl"><a target="_blank" href="/pubmed/24064023">Familial Mediterranean fever: a critical digest of the 2012-2013 literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eisenstein EM,
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Berkun Y,
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<div class="nl"><a target="_blank" href="/pubmed/15820380">Periodic fever syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Padeh S</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1582)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37298536">An Update on Familial Mediterranean Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lancieri M,
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<div class="nl"><a target="_blank" href="/pubmed/32806879">Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tufan A,
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<div class="nl"><a target="_blank" href="/pubmed/29773275">Periodic fever syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lachmann HJ</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/29773275" target="_blank">29773275</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21210600">Periodic Fever syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wurster VM,
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Carlucci JG,
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<span class="bold">PMID: </span><a href="/pubmed/21210600" target="_blank">21210600</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9500348">Familial Mediterranean fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Chetrit E,
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<span class="bold">PMID: </span><a href="/pubmed/9500348" target="_blank">9500348</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1761)</a></div><h3 class="subhead">Therapy</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/37298536">An Update on Familial Mediterranean Fever.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Lancieri M,
|
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Bustaffa M,
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Palmeri S,
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Prigione I,
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Penco F,
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Papa R,
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Volpi S,
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Caorsi R,
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Gattorno M</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2023 May 31;24(11)
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<span class="bold">PMID: </span><a href="/pubmed/37298536" target="_blank">37298536</a><a href="/pmc/articles/PMC10253709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/30686512">Familial Mediterranean Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ozdogan H,
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Ugurlu S</span><br />
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<span class="medgenPMjournal">Presse Med</span>
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2019 Feb;48(1 Pt 2):e61-e76.
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Epub 2019 Jan 25
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doi: 10.1016/j.lpm.2018.08.014.
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<span class="bold">PMID: </span><a href="/pubmed/30686512" target="_blank">30686512</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29773275">Periodic fever syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lachmann HJ</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
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2017 Aug;31(4):596-609.
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Epub 2018 Jan 11
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doi: 10.1016/j.berh.2017.12.001.
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<span class="bold">PMID: </span><a href="/pubmed/29773275" target="_blank">29773275</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21210600">Periodic Fever syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wurster VM,
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Carlucci JG,
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Edwards KM</span><br />
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<span class="medgenPMjournal">Pediatr Ann</span>
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2011 Jan;40(1):48-54.
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doi: 10.3928/00904481-20101214-10.
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<span class="bold">PMID: </span><a href="/pubmed/21210600" target="_blank">21210600</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19790133">Familial mediterranean Fever in the world.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Chetrit E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1204)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32806879">Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tufan A,
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<span class="bold">PMID: </span><a href="/pubmed/32806879" target="_blank">32806879</a><a href="/pmc/articles/PMC7672358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25649364">Familial Mediterranean Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kucuk A,
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Ucar R,
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<div class="nl"><a target="_blank" href="/pubmed/22560579">Autoinflammatory syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hashkes PJ,
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<div class="nl"><a target="_blank" href="/pubmed/19790133">Familial mediterranean Fever in the world.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Chetrit E,
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Touitou I</span><br />
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<span class="medgenPMjournal">Arthritis Rheum</span>
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<span class="bold">PMID: </span><a href="/pubmed/19790133" target="_blank">19790133</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11742050">Hereditary periodic fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Drenth JP,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (663)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33065631">Further Observations on the Occurrence of Protracted Febrile Myalgia of Familial Mediterranean Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ling E,
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Ling G,
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<span class="bold">PMID: </span><a href="/pubmed/33065631" target="_blank">33065631</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32051376">Familial Mediterranean Fever without Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hotta Y,
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Kawasaki T,
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Kotani T,
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Okada H,
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Ikeda K,
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Yamane S,
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Yamada N,
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Sekoguchi S,
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Isozaki Y,
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Nagao Y,
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Murotani M,
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<span class="bold">PMID: </span><a href="/pubmed/32051376" target="_blank">32051376</a><a href="/pmc/articles/PMC7303446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29148036">Function and mechanism of the pyrin inflammasome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Heilig R,
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<span class="bold">PMID: </span><a href="/pubmed/29148036" target="_blank">29148036</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27286236">Familial Mediterranean fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Padeh S,
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Berkun Y</span><br />
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<span class="medgenPMjournal">Curr Opin Rheumatol</span>
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<div class="nl"><a target="_blank" href="/pubmed/24064023">Familial Mediterranean fever: a critical digest of the 2012-2013 literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eisenstein EM,
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Berkun Y,
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Ben-Chetrit E</span><br />
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<span class="medgenPMjournal">Clin Exp Rheumatol</span>
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Epub 2013 Sep 9
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<span class="bold">PMID: </span><a href="/pubmed/24064023" target="_blank">24064023</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (861)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38950176">Could tocilizumab be used in familial Mediterranean fever? A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mertz P,
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Hentgen V,
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Georgin-Lavialle S</span><br />
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<span class="medgenPMjournal">Rheumatology (Oxford)</span>
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2025 Jan 1;64(1):12-21.
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doi: 10.1093/rheumatology/keae338.
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||
<span class="bold">PMID: </span><a href="/pubmed/38950176" target="_blank">38950176</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/35874710">Systematic Review of Safety and Efficacy of IL-1-Targeted Biologics in Treating Immune-Mediated Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arnold DD,
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Yalamanoglu A,
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Boyman O</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2022;13:888392.
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Epub 2022 Jul 6
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<span class="bold">PMID: </span><a href="/pubmed/35874710" target="_blank">35874710</a><a href="/pmc/articles/PMC9296857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/31031761">Association of Vasculitis and Familial Mediterranean Fever.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abbara S,
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Grateau G,
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Ducharme-Bénard S,
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Saadoun D,
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<span class="medgenPMjournal">Front Immunol</span>
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Epub 2019 Apr 12
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<span class="bold">PMID: </span><a href="/pubmed/31031761" target="_blank">31031761</a><a href="/pmc/articles/PMC6473328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26687683">Efficacy and safety of treatments in Familial Mediterranean fever: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Demirkaya E,
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Erer B,
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Ozen S,
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Ben-Chetrit E</span><br />
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<span class="medgenPMjournal">Rheumatol Int</span>
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<span class="bold">PMID: </span><a href="/pubmed/26687683" target="_blank">26687683</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20586571">Colchicine poisoning: the dark side of an ancient drug.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finkelstein Y,
|
||
Aks SE,
|
||
Hutson JR,
|
||
Juurlink DN,
|
||
Nguyen P,
|
||
Dubnov-Raz G,
|
||
Pollak U,
|
||
Koren G,
|
||
Bentur Y</span><br />
|
||
<span class="medgenPMjournal">Clin Toxicol (Phila)</span>
|
||
2010 Jun;48(5):407-14.
|
||
doi: 10.3109/15563650.2010.495348.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20586571" target="_blank">20586571</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1851347%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851347%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851347%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851347%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851347%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1851347%5bDISCUI%5d" target="_blank">See all (41)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=134610" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20Mediterranean%20fever,%20autosomal%20dominant" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20mediterranean%20fever%2C%20autosomal%20dominant)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Familial%20Mediterranean%20fever%2C%20autosomal%20dominant%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608107" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4210[geneid]" target="_blank">View MEFV variations in ClinVar</a></li><li><a href="/nuccore/189163467" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=134610" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Familial+mediterranean+fever%2C+autosomal+dominant/8401" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/familial_mediterranean_fever_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20Mediterranean%20fever,%20autosomal%20dominant" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-mediterranean-fever" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15069/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
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|
||
<div class="portlet_content">
|
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<ul>
|
||
<li>
|
||
<a href="/pubmed/20301405" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Familial%20Mediterranean%20fever,%20autosomal%20dominant" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Familial%20Mediterranean%20fever,%20autosomal%20dominant%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Related information</h3>
|
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|
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|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=341987" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=341987" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1851347[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1851347[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=341987" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=341987" ref="log$=recordlinks">OMIM</a>
|
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=341987" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=341987" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=341987" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=341987" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=341987" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
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|
||
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|
||
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|
||
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3f6f6cde49f3df7831a7f">Familial Mediterranean fever, autosomal dominant</a>
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<div class="ralinkpop offscreen_noflow">Familial Mediterranean fever, autosomal dominant<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3f6f1cde49f3df782fe96">Autosomal recessive familial Mediterranean fever</a>
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<div class="ralinkpop offscreen_noflow">Autosomal recessive familial Mediterranean fever<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3f6e4cde49f3df782acd1">Elevated circulating C-reactive protein concentration</a>
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<div class="ralinkpop offscreen_noflow">Elevated circulating C-reactive protein concentration<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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