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<meta name="keywords" content="C5201146, acug, arthrocutaneouveal granulomatosis, blau syndrome, blaus, disease or syndrome, early-onset sarcoidosis, eos, granulomatosis, familial juvenile systemic, granulomatosis, familial, blau type, granulomatous inflammatory arthritis, dermatitis, and uveitis, familial, jabs syndrome, nod2, paediatric granulomatous arthritis, pediatric granulomatous arthritis, sarcoidosis, early-onset, synovitis granulomatous with uveitis and cranial neuropathies, synovitis, granulomatous, with uveitis and cranial neuropathies, 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="Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1684759
|
||
ConceptID=C5201146
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Blau syndrome<span class="h1sub">(BLAUS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684759</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:">C5201146</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>ARTHROCUTANEOUVEAL GRANULOMATOSIS; BLAUS; GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC; GRANULOMATOSIS, FAMILIAL, BLAU TYPE; GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL; JABS SYNDROME; Synovitis granulomatous with uveitis and cranial neuropathies</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Blau syndrome (818950005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NOD2 - ID: 64127 - NCBI Gene" href="/gene/64127" class="medgenPMinfo">NOD2</a> (16q12.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008523" target="_blank">MONDO:0008523</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/186580" target="_blank">186580</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">Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). [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_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_237248"><div><strong>Flexion contracture of toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237248</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.">C1406835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or more bent (flexed) toe joints that cannot be straightened actively or passively.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/237248">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%20of%20toe%22%5BClinical%20Features%5D%20OR%20237248%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75618"><div><strong>Ear malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75618</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.">C0266589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75618">Feature record</a> | <a href="/medgen?term=%22Ear%20malformation%22%5BClinical%20Features%5D%20OR%2075618%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344302"><div><strong>Abnormal cranial nerve morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344302</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.">C1854510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344302">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cranial%20nerve%20morphology%22%5BClinical%20Features%5D%20OR%20344302%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2043"><div><strong>Arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2043</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2043">Feature record</a> | <a href="/medgen?term=%22Arthritis%22%5BClinical%20Features%5D%20OR%202043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21051"><div><strong>Synovitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21051</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.">C0039103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a synovial membrane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21051">Feature record</a> | <a href="/medgen?term=%22Synovitis%22%5BClinical%20Features%5D%20OR%2021051%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21094"><div><strong>Tendonitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21094</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.">C0039503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a tendon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21094">Feature record</a> | <a href="/medgen?term=%22Tendonitis%22%5BClinical%20Features%5D%20OR%2021094%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_98041"><div><strong>Camptodactyly of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98041</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.">C0409348</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98041">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%20of%20finger%22%5BClinical%20Features%5D%20OR%2098041%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3968"><div><strong>Eczematoid dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3968</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.">C0013595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3968">Feature record</a> | <a href="/medgen?term=%22Eczematoid%20dermatitis%22%5BClinical%20Features%5D%20OR%203968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41858"><div><strong>Erythema nodosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41858</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.">C0014743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41858">Feature record</a> | <a href="/medgen?term=%22Erythema%20nodosum%22%5BClinical%20Features%5D%20OR%2041858%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18377"><div><strong>Pericarditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18377</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0031046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the sac-like covering around the heart (pericardium).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18377">Feature record</a> | <a href="/medgen?term=%22Pericarditis%22%5BClinical%20Features%5D%20OR%2018377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52961"><div><strong>Uveitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52961</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of one or all portions of the uveal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52961">Feature record</a> | <a href="/medgen?term=%22Uveitis%22%5BClinical%20Features%5D%20OR%2052961%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870351"><div><strong>Nongranulomatous uveitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870351</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.">C4024795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of uveitis that is not associated with the formation of granulomas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870351">Feature record</a> | <a href="/medgen?term=%22Nongranulomatous%20uveitis%22%5BClinical%20Features%5D%20OR%20870351%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52369"><div><strong>Skin ulcer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52369</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.">C0037299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52369">Feature record</a> | <a href="/medgen?term=%22Skin%20ulcer%22%5BClinical%20Features%5D%20OR%2052369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_413203"><div><strong>Intermittent generalized erythematous papular rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413203</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.">C2749995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413203">Feature record</a> | <a href="/medgen?term=%22Intermittent%20generalized%20erythematous%20papular%20rash%22%5BClinical%20Features%5D%20OR%20413203%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42224"><div><strong>Glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42224</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.">C0017601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42224">Feature record</a> | <a href="/medgen?term=%22Glaucoma%22%5BClinical%20Features%5D%20OR%2042224%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7160"><div><strong>Iritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7160</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.">C0022081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7160">Feature record</a> | <a href="/medgen?term=%22Iritis%22%5BClinical%20Features%5D%20OR%207160%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7435"><div><strong>Cystoid macular edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7435</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.">C0024440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7435">Feature record</a> | <a href="/medgen?term=%22Cystoid%20macular%20edema%22%5BClinical%20Features%5D%20OR%207435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56354"><div><strong>Band-shaped keratopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56354</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.">C0155120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56354">Feature record</a> | <a href="/medgen?term=%22Band-shaped%20keratopathy%22%5BClinical%20Features%5D%20OR%2056354%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_237248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture of toe</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_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56354" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Band-shaped keratopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystoid macular edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glaucoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iritis</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_3968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eczematoid dermatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythema nodosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nongranulomatous uveitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pericarditis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uveitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_413203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intermittent generalized erythematous papular rash</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin ulcer</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly of finger</a></span></li><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_21051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synovitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tendonitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cranial nerve morphology</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ear malformation</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=C5201146[DISCUI]&test_type=Clinical" ref="ncbi_uid=1684759">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684759" target="_blank" href="/omim/186580">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=1684759" ref="ncbi_uid=1684759">V</a></span></span><span class="TLline">Blau syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/232638" ref="tree=MeSH" title="MedGen record for Immune System and Related Disorders">Immune System and Related Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/5759" ref="tree=MeSH" title="MedGen record for Immune system disorder">Immune system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/2135" ref="tree=MeSH" title="MedGen record for Autoimmune disease">Autoimmune disease</a></span><ul><li><span class="matched_ds">Blau syndrome</span></li></ul></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/39372397">Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Wu S,
|
||
Saif A,
|
||
Hwang F,
|
||
Metzger J,
|
||
Navetta-Modrov B,
|
||
Gorevic PD,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1458118.
|
||
Epub 2024 Sep 20
|
||
doi: 10.3389/fimmu.2024.1458118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39372397" target="_blank">39372397</a><a href="/pmc/articles/PMC11449693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37735224">Management of Blau syndrome: review and proposal of a treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lassoued Ferjani H,
|
||
Kharrat L,
|
||
Ben Nessib D,
|
||
Kaffel D,
|
||
Maatallah K,
|
||
Hamdi W</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Jan;183(1):1-7.
|
||
Epub 2023 Sep 22
|
||
doi: 10.1007/s00431-023-05204-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37735224" target="_blank">37735224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37415984">Tofacitinib, a suppressor of NOD2 expression, is a potential treatment for Blau syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ueki Y,
|
||
Takimoto-Ito R,
|
||
Saito MK,
|
||
Tanizaki H,
|
||
Kambe N</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1211240.
|
||
Epub 2023 Jun 21
|
||
doi: 10.3389/fimmu.2023.1211240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37415984" target="_blank">37415984</a><a href="/pmc/articles/PMC10321295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22blau%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (9)</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/39372397">Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Wu S,
|
||
Saif A,
|
||
Hwang F,
|
||
Metzger J,
|
||
Navetta-Modrov B,
|
||
Gorevic PD,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1458118.
|
||
Epub 2024 Sep 20
|
||
doi: 10.3389/fimmu.2024.1458118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39372397" target="_blank">39372397</a><a href="/pmc/articles/PMC11449693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37983819">Sarcoid Uveitis in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith JR,
|
||
Mochizuki M</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2023 Dec;31(10):1965-1970.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1080/09273948.2023.2282609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37983819" target="_blank">37983819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147748">Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnekoh H,
|
||
Butze M,
|
||
Kallinich T,
|
||
Kambe N,
|
||
Kokolakis G,
|
||
Krause K</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2020 Mar 25;100(7):adv00091.
|
||
doi: 10.2340/00015555-3427.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147748" target="_blank">32147748</a><a href="/pmc/articles/PMC9128980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31620796">Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellis JC,
|
||
Faber BG,
|
||
Uri IF,
|
||
J Emerson S</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2020 May 1;59(5):1179-1180.
|
||
doi: 10.1093/rheumatology/kez484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31620796" target="_blank">31620796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25833143">The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bascherini V,
|
||
Granato C,
|
||
Lopalco G,
|
||
Emmi G,
|
||
Vannozzi L,
|
||
Bacherini D,
|
||
Franceschini R,
|
||
Iannone F,
|
||
Salerni A,
|
||
Molinaro F,
|
||
Messina M,
|
||
Frediani B,
|
||
Selmi C,
|
||
Rigante D,
|
||
Cantarini L</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2015 Jul;34(7):1171-80.
|
||
Epub 2015 Apr 2
|
||
doi: 10.1007/s10067-015-2920-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25833143" target="_blank">25833143</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blau%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 (64)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39372397">Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nomani H,
|
||
Wu S,
|
||
Saif A,
|
||
Hwang F,
|
||
Metzger J,
|
||
Navetta-Modrov B,
|
||
Gorevic PD,
|
||
Aksentijevich I,
|
||
Yao Q</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1458118.
|
||
Epub 2024 Sep 20
|
||
doi: 10.3389/fimmu.2024.1458118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39372397" target="_blank">39372397</a><a href="/pmc/articles/PMC11449693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37735224">Management of Blau syndrome: review and proposal of a treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lassoued Ferjani H,
|
||
Kharrat L,
|
||
Ben Nessib D,
|
||
Kaffel D,
|
||
Maatallah K,
|
||
Hamdi W</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Jan;183(1):1-7.
|
||
Epub 2023 Sep 22
|
||
doi: 10.1007/s00431-023-05204-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37735224" target="_blank">37735224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31620796">Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellis JC,
|
||
Faber BG,
|
||
Uri IF,
|
||
J Emerson S</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2020 May 1;59(5):1179-1180.
|
||
doi: 10.1093/rheumatology/kez484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31620796" target="_blank">31620796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29773275">Periodic fever syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lachmann HJ</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2017 Aug;31(4):596-609.
|
||
Epub 2018 Jan 11
|
||
doi: 10.1016/j.berh.2017.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29773275" target="_blank">29773275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20947513">Blau syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin J,
|
||
Kodjikian L,
|
||
Duquesne A,
|
||
Le Scanff J,
|
||
Sève P</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2011 Nov;104(11):997-8.
|
||
Epub 2010 Oct 13
|
||
doi: 10.1093/qjmed/hcq188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20947513" target="_blank">20947513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blau%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 (128)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37735224">Management of Blau syndrome: review and proposal of a treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lassoued Ferjani H,
|
||
Kharrat L,
|
||
Ben Nessib D,
|
||
Kaffel D,
|
||
Maatallah K,
|
||
Hamdi W</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Jan;183(1):1-7.
|
||
Epub 2023 Sep 22
|
||
doi: 10.1007/s00431-023-05204-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37735224" target="_blank">37735224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31232485">Sporadic Blau syndrome treated with adalimumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millington GWM,
|
||
Dobson J,
|
||
Holden S,
|
||
Waters G,
|
||
Puvanachandra N,
|
||
Close R,
|
||
Bale P,
|
||
Armon K</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2019 Oct;44(7):811-813.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1111/ced.14016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31232485" target="_blank">31232485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29773275">Periodic fever syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lachmann HJ</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2017 Aug;31(4):596-609.
|
||
Epub 2018 Jan 11
|
||
doi: 10.1016/j.berh.2017.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29773275" target="_blank">29773275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27304707">Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arvesen KB,
|
||
Herlin T,
|
||
Larsen DA,
|
||
Koppelhus U,
|
||
Ramsing M,
|
||
Skytte AB,
|
||
Sommerlund M</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2017 Jan 4;97(1):126-127.
|
||
doi: 10.2340/00015555-2485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27304707" target="_blank">27304707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23970817">Biological treatments: new weapons in the management of monogenic autoinflammatory disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vitale A,
|
||
Rigante D,
|
||
Lucherini OM,
|
||
Caso F,
|
||
Muscari I,
|
||
Magnotti F,
|
||
Brizi MG,
|
||
Guerrini S,
|
||
Patti M,
|
||
Punzi L,
|
||
Galeazzi M,
|
||
Cantarini L</span><br />
|
||
<span class="medgenPMjournal">Mediators Inflamm</span>
|
||
2013;2013:939847.
|
||
Epub 2013 Jul 21
|
||
doi: 10.1155/2013/939847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23970817" target="_blank">23970817</a><a href="/pmc/articles/PMC3736401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blau%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 (59)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33560445">Distinguishing Blau Syndrome from Systemic Sarcoidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaufman KP,
|
||
Becker ML</span><br />
|
||
<span class="medgenPMjournal">Curr Allergy Asthma Rep</span>
|
||
2021 Feb 9;21(2):10.
|
||
doi: 10.1007/s11882-021-00991-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33560445" target="_blank">33560445</a><a href="/pmc/articles/PMC9762981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33009086">Ocular manifestations of Blau syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suresh S,
|
||
Tsui E</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2020 Nov;31(6):532-537.
|
||
doi: 10.1097/ICU.0000000000000705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33009086" target="_blank">33009086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30446874">Autoinflammatory Disease-Associated Vasculitis/Vasculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alghamdi M</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2018 Nov 17;20(12):87.
|
||
doi: 10.1007/s11926-018-0788-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30446874" target="_blank">30446874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24955053">Cardiac sarcoidosis presenting as constrictive pericarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darda S,
|
||
Zughaib ME,
|
||
Alexander PB,
|
||
Machado CE,
|
||
David SW,
|
||
Saba S</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2014 Jun;41(3):319-23.
|
||
Epub 2014 Jun 1
|
||
doi: 10.14503/THIJ-13-3208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24955053" target="_blank">24955053</a><a href="/pmc/articles/PMC4060344" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22832824">Monogenic causes of inflammatory disease in rheumatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbsky JW</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
2012 Sep;24(5):506-14.
|
||
doi: 10.1097/BOR.0b013e32835689b9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22832824" target="_blank">22832824</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blau%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 (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32618442">Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takada S,
|
||
Saito MK,
|
||
Kambe N</span><br />
|
||
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
|
||
2020 Oct;155(5):537-541.
|
||
Epub 2020 Jul 2
|
||
doi: 10.23736/S0392-0488.19.06524-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32618442" target="_blank">32618442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147748">Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnekoh H,
|
||
Butze M,
|
||
Kallinich T,
|
||
Kambe N,
|
||
Kokolakis G,
|
||
Krause K</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2020 Mar 25;100(7):adv00091.
|
||
doi: 10.2340/00015555-3427.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147748" target="_blank">32147748</a><a href="/pmc/articles/PMC9128980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25062261">Noninfectious cutaneous granulomas in primary immunodeficiency disorders: report from a national registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanda A,
|
||
Al-Herz W,
|
||
Al-Sabah H,
|
||
Al-Ajmi H</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2014 Oct;36(10):832-7.
|
||
doi: 10.1097/DAD.0000000000000112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25062261" target="_blank">25062261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24160962">Adalimumab therapy for refractory childhood uveitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Ljubetic L,
|
||
Peralta-Calvo J,
|
||
Noval S,
|
||
Pastora-Salvador N,
|
||
Abelairas-Gómez J,
|
||
Merino R</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2013 Oct;17(5):456-9.
|
||
doi: 10.1016/j.jaapos.2013.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24160962" target="_blank">24160962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22884558">Blau syndrome, clinical and genetic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sfriso P,
|
||
Caso F,
|
||
Tognon S,
|
||
Galozzi P,
|
||
Gava A,
|
||
Punzi L</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2012 Nov;12(1):44-51.
|
||
Epub 2012 Aug 2
|
||
doi: 10.1016/j.autrev.2012.07.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22884558" target="_blank">22884558</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blau%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 (56)</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/34509650">Ocular involvement in monogenic autoinflammatory disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maccora I,
|
||
Marrani E,
|
||
Mastrolia MV,
|
||
Abu-Rumeileh S,
|
||
Maniscalco V,
|
||
Fusco E,
|
||
Barbati F,
|
||
Pagnini I,
|
||
Simonini G</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2021 Nov;20(11):102944.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1016/j.autrev.2021.102944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34509650" target="_blank">34509650</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blau%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
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||
<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 -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5201146%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C5201146%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C5201146%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5201146%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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</ul></div>
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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=186580" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Blau%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</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=(%22blau%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605956" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=64127[geneid]" target="_blank">View NOD2 variations in ClinVar</a></li><li><a href="/nuccore/172073161" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=186580" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
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|
||
<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>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/blau_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Blau%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/304/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
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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">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Blau%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Blau%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<h3>Related information</h3>
|
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</div>
|
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||
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684759" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1684759" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5201146[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5201146[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1684759" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1684759" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1684759" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1684759" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1684759" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
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|
||
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|
||
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|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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