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<meta name="keywords" content="C5935573, amyld6, amyloidosis, hereditary systemic 6, b2m, disease or syndrome, 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="Hereditary systemic amyloidosis-6 (AMYLD6) is an autosomal dominant systemic amyloidosis characterized by onset in middle age of gastrointestinal and cardiac symptoms resulting from progressive amyloid deposition. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present (summary by Prokaeva et al., 2022 and Haslett et al., 2023). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1860723
|
||
ConceptID=C5935573
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Amyloidosis, hereditary systemic 6<span class="h1sub">(AMYLD6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1860723</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.">C5935573</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>AMYLD6; AMYLOIDOSIS, HEREDITARY SYSTEMIC 6</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="B2M - ID: 567 - NCBI Gene" href="/gene/567" class="medgenPMinfo">B2M</a> (15q21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0971010" target="_blank">MONDO:0971010</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620659" target="_blank">620659</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_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">Hereditary systemic amyloidosis-6 (AMYLD6) is an autosomal dominant systemic amyloidosis characterized by onset in middle age of gastrointestinal and cardiac symptoms resulting from progressive amyloid deposition. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present (summary by Prokaeva et al., 2022 and Haslett et al., 2023). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_853198"><div><strong>Weight loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853198</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1262477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of total body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853198">Feature record</a> | <a href="/medgen?term=%22Weight%20loss%22%5BClinical%20Features%5D%20OR%20853198%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75642"><div><strong>Hepatic amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75642</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.">C0267839</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 liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75642">Feature record</a> | <a href="/medgen?term=%22Hepatic%20amyloidosis%22%5BClinical%20Features%5D%20OR%2075642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98325"><div><strong>Chronic constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98325</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.">C0401149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98325">Feature record</a> | <a href="/medgen?term=%22Chronic%20constipation%22%5BClinical%20Features%5D%20OR%2098325%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43803"><div><strong>Orthostatic hypotension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43803</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.">C0020651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43803">Feature record</a> | <a href="/medgen?term=%22Orthostatic%20hypotension%22%5BClinical%20Features%5D%20OR%2043803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57502"><div><strong>Polyneuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57502</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.">C0152025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized disorder of peripheral nerves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57502">Feature record</a> | <a href="/medgen?term=%22Polyneuropathy%22%5BClinical%20Features%5D%20OR%2057502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</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.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4451"><div><strong>Edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4451</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.">C0013604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4451">Feature record</a> | <a href="/medgen?term=%22Edema%22%5BClinical%20Features%5D%20OR%204451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488730"><div><strong>Cardiac amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488730</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.">C0268407</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488730">Feature record</a> | <a href="/medgen?term=%22Cardiac%20amyloidosis%22%5BClinical%20Features%5D%20OR%20488730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867772"><div><strong>Amyloidosis of peripheral nerves</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867772</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.">C4022162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of amyloid deposition in the nerves of the peripheral nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867772">Feature record</a> | <a href="/medgen?term=%22Amyloidosis%20of%20peripheral%20nerves%22%5BClinical%20Features%5D%20OR%20867772%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_867772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis of peripheral nerves</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac amyloidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Edema</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic constipation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic amyloidosis</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_43803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orthostatic hypotension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyneuropathy</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_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weight loss</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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 unavailable round" title="Clinical test">C</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/888981" ref="tree=GTR&ncbi_uid=888981&link_uid=888981" title="View MedGen record for 'Amyloidosis, hereditary systemic'">Amyloidosis, hereditary systemic</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=C2751492[DISCUI]&test_type=Clinical" ref="ncbi_uid=414031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414031" target="_blank" href="/omim/105210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1194/" ref="ncbi_uid=414031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414031" ref="ncbi_uid=414031">V</a></span></span><span class="TLline"><a href="/medgen/414031" ref="tree=GTR&ncbi_uid=414031&link_uid=414031" title="View MedGen record for 'Amyloidosis, hereditary systemic 1'">Amyloidosis, hereditary systemic 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1859086" target="_blank" href="/omim/153450">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=1859086" ref="ncbi_uid=1859086">V</a></span></span><span class="TLline"><a href="/medgen/1859086" ref="tree=GTR&ncbi_uid=1859086&link_uid=1859086" title="View MedGen record for 'Amyloidosis, hereditary systemic 5'">Amyloidosis, hereditary systemic 5</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1860723" target="_blank" href="/omim/109700">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=1860723" ref="ncbi_uid=1860723">V</a></span></span><span class="TLline">Amyloidosis, hereditary systemic 6</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1635231" target="_blank" href="/omim/107680">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=1635231" ref="ncbi_uid=1635231">V</a></span></span><span class="TLline"><a href="/medgen/1635231" ref="tree=GTR&ncbi_uid=1635231&link_uid=1635231" title="View MedGen record for 'Familial amyloid polyneuropathy, Iowa type'">Familial amyloid polyneuropathy, Iowa type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268389[DISCUI]&test_type=Clinical" ref="ncbi_uid=82799">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82799" target="_blank" href="/omim/105200">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=82799" ref="ncbi_uid=82799">V</a></span></span><span class="TLline"><a href="/medgen/82799" ref="tree=GTR&ncbi_uid=82799&link_uid=82799" title="View MedGen record for 'Familial visceral amyloidosis, Ostertag type'">Familial visceral amyloidosis, Ostertag type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1622345[DISCUI]&test_type=Clinical" ref="ncbi_uid=301243">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=301243" target="_blank" href="/omim/105120">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=301243" ref="ncbi_uid=301243">V</a></span></span><span class="TLline"><a href="/medgen/301243" ref="tree=GTR&ncbi_uid=301243&link_uid=301243" title="View MedGen record for 'Finnish type amyloidosis'">Finnish type amyloidosis</a></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/888981" ref="tree=MeSH" title="MedGen record for Amyloidosis, hereditary systemic">Amyloidosis, hereditary systemic</a></span><ul><li><span class="matched_ds">Amyloidosis, hereditary systemic 6</span></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/38182428">Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson SR,
|
||
Shaw DE,
|
||
Avoseh M,
|
||
Soomro I,
|
||
Pointon KS,
|
||
Kokosi M,
|
||
Nicholson AG,
|
||
Desai SR,
|
||
George PM</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2024 Mar 15;79(4):366-377.
|
||
doi: 10.1136/thorax-2022-219738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38182428" target="_blank">38182428</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35256455">Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carroll A,
|
||
Dyck PJ,
|
||
de Carvalho M,
|
||
Kennerson M,
|
||
Reilly MM,
|
||
Kiernan MC,
|
||
Vucic S</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2022 Jun;93(6):668-678.
|
||
Epub 2022 Mar 7
|
||
doi: 10.1136/jnnp-2021-327909.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35256455" target="_blank">35256455</a><a href="/pmc/articles/PMC9148983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31907599">Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams D,
|
||
Ando Y,
|
||
Beirão JM,
|
||
Coelho T,
|
||
Gertz MA,
|
||
Gillmore JD,
|
||
Hawkins PN,
|
||
Lousada I,
|
||
Suhr OB,
|
||
Merlini G</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Jun;268(6):2109-2122.
|
||
Epub 2020 Jan 6
|
||
doi: 10.1007/s00415-019-09688-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31907599" target="_blank">31907599</a><a href="/pmc/articles/PMC8179912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyloidosis%2C%20hereditary%20systemic%206)%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 (15)</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/36646436">Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dang J,
|
||
Ferlicot S,
|
||
Misrahi M,
|
||
Mussini C,
|
||
Kounis I,
|
||
Rémy P,
|
||
Samuel D,
|
||
Planté-Bordeneuve V,
|
||
Adams D,
|
||
Funalot B,
|
||
Snanoudj R,
|
||
Damy T,
|
||
Moktefi A,
|
||
Audard V,
|
||
Zaidan M</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2023 Aug 31;38(9):2019-2030.
|
||
doi: 10.1093/ndt/gfad006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36646436" target="_blank">36646436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35868845">Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kozycki CT,
|
||
Kodati S,
|
||
Huryn L,
|
||
Wang H,
|
||
Warner BM,
|
||
Jani P,
|
||
Hammoud D,
|
||
Abu-Asab MS,
|
||
Jittayasothorn Y,
|
||
Mattapallil MJ,
|
||
Tsai WL,
|
||
Ullah E,
|
||
Zhou P,
|
||
Tian X,
|
||
Soldatos A,
|
||
Moutsopoulos N,
|
||
Kao-Hsieh M,
|
||
Heller T,
|
||
Cowen EW,
|
||
Lee CR,
|
||
Toro C,
|
||
Kalsi S,
|
||
Khavandgar Z,
|
||
Baer A,
|
||
Beach M,
|
||
Long Priel D,
|
||
Nehrebecky M,
|
||
Rosenzweig S,
|
||
Romeo T,
|
||
Deuitch N,
|
||
Brenchley L,
|
||
Pelayo E,
|
||
Zein W,
|
||
Sen N,
|
||
Yang AH,
|
||
Farley G,
|
||
Sweetser DA,
|
||
Briere L,
|
||
Yang J,
|
||
de Oliveira Poswar F,
|
||
Schwartz IVD,
|
||
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Dusser P,
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Koné-Paut I,
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Touitou I,
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van der Spek PJ,
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Benneche A,
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Apalset EM,
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Caspi RR,
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Kuhns DB,
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Gadina M,
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Takada H,
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Ida H,
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Nishikomori R,
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Verrecchia E,
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Sangiorgi E,
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Manna R,
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Brooks BP,
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Sobrin L,
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Hufnagel RB,
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Beck D,
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Shao F,
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Ombrello AK,
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Kastner DL;
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Undiagnosed Diseases Network</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/28583784">Periodic fever: From Still's disease to Muckle-Wells syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Solís Marquínez MN,
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<div class="nl"><a target="_blank" href="/pubmed/27585505">Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Grogan M,
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Scott CG,
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Kyle RA,
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Zeldenrust SR,
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Gertz MA,
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Lin G,
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Klarich KW,
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Miller WL,
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Maleszewski JJ,
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Dispenzieri A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27585505" target="_blank">27585505</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23239211">Amyloid neuropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shin SC,
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Robinson-Papp J</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23239211" target="_blank">23239211</a><a href="/pmc/articles/PMC3531896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyloidosis%2C%20hereditary%20systemic%206%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 (90)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38182428">Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Johnson SR,
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Shaw DE,
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Avoseh M,
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Soomro I,
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Kokosi M,
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George PM</span><br />
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doi: 10.1136/thorax-2022-219738.
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<span class="bold">PMID: </span><a href="/pubmed/38182428" target="_blank">38182428</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35256455">Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carroll A,
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Dyck PJ,
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de Carvalho M,
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Kennerson M,
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Reilly MM,
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Kiernan MC,
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Vucic S</span><br />
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Epub 2022 Mar 7
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doi: 10.1136/jnnp-2021-327909.
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<span class="bold">PMID: </span><a href="/pubmed/35256455" target="_blank">35256455</a><a href="/pmc/articles/PMC9148983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31907599">Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Adams D,
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Ando Y,
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Beirão JM,
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Coelho T,
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Gertz MA,
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Gillmore JD,
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<div class="portlet_content ln"><span class="medgenPMauthor">Oldham J,
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<div class="nl"><a target="_blank" href="/pubmed/27585505">Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Grogan M,
|
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Scott CG,
|
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Kyle RA,
|
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Zeldenrust SR,
|
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Gertz MA,
|
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Lin G,
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Klarich KW,
|
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Miller WL,
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Maleszewski JJ,
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Dispenzieri A</span><br />
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<span class="medgenPMjournal">J Am Coll Cardiol</span>
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2016 Sep 6;68(10):1014-20.
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doi: 10.1016/j.jacc.2016.06.033.
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<span class="bold">PMID: </span><a href="/pubmed/27585505" target="_blank">27585505</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyloidosis%2C%20hereditary%20systemic%206%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 (116)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32882069">The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples.</a></div>
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Lachmann HJ</span><br />
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2020 Dec;45(8):967-973.
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Epub 2020 Sep 3
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doi: 10.1111/ced.14251.
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<span class="bold">PMID: </span><a href="/pubmed/32882069" target="_blank">32882069</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Johnson SR,
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Shaw DE,
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Avoseh M,
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George PM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38182428" target="_blank">38182428</a></div>
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Titah SM,
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van Hagen PM,
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van Wijck RTA,
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van der Spek PJ,
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Yano H,
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Benneche A,
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Apalset EM,
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Jansson RW,
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Caspi RR,
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Kuhns DB,
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Gadina M,
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Takada H,
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Ida H,
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Nishikomori R,
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Verrecchia E,
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Sangiorgi E,
|
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Manna R,
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Brooks BP,
|
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Sobrin L,
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Hufnagel RB,
|
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Beck D,
|
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Shao F,
|
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Ombrello AK,
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Aksentijevich I,
|
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Kastner DL;
|
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Undiagnosed Diseases Network</span><br />
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<span class="medgenPMjournal">Ann Rheum Dis</span>
|
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2022 Oct;81(10):1453-1464.
|
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Epub 2022 Jul 22
|
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doi: 10.1136/annrheumdis-2022-222629.
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<span class="bold">PMID: </span><a href="/pubmed/35868845" target="_blank">35868845</a><a href="/pmc/articles/PMC9484401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35256455">Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carroll A,
|
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Dyck PJ,
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de Carvalho M,
|
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Kennerson M,
|
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Reilly MM,
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Kiernan MC,
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Vucic S</span><br />
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<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
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2022 Jun;93(6):668-678.
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Epub 2022 Mar 7
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doi: 10.1136/jnnp-2021-327909.
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<span class="bold">PMID: </span><a href="/pubmed/35256455" target="_blank">35256455</a><a href="/pmc/articles/PMC9148983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27585505">Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Grogan M,
|
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Scott CG,
|
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Kyle RA,
|
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Zeldenrust SR,
|
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Gertz MA,
|
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Lin G,
|
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Klarich KW,
|
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Miller WL,
|
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Maleszewski JJ,
|
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Dispenzieri A</span><br />
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<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
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2016 Sep 6;68(10):1014-20.
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doi: 10.1016/j.jacc.2016.06.033.
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<span class="bold">PMID: </span><a href="/pubmed/27585505" target="_blank">27585505</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23239211">Amyloid neuropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shin SC,
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Robinson-Papp J</span><br />
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<span class="medgenPMjournal">Mt Sinai J Med</span>
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2012 Nov-Dec;79(6):733-48.
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doi: 10.1002/msj.21352.
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<span class="bold">PMID: </span><a href="/pubmed/23239211" target="_blank">23239211</a><a href="/pmc/articles/PMC3531896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyloidosis%2C%20hereditary%20systemic%206%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 (61)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38757395">Cardiac amyloidosis is not a single disease: a multiparametric comparison between the light chain and transthyretin forms.</a></div>
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Jercan A,
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<span class="bold">PMID: </span><a href="/pubmed/38757395" target="_blank">38757395</a><a href="/pmc/articles/PMC11424370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36646436">Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.</a></div>
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Adams D,
|
||
Funalot B,
|
||
Snanoudj R,
|
||
Damy T,
|
||
Moktefi A,
|
||
Audard V,
|
||
Zaidan M</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2023 Aug 31;38(9):2019-2030.
|
||
doi: 10.1093/ndt/gfad006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36646436" target="_blank">36646436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27585505">Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grogan M,
|
||
Scott CG,
|
||
Kyle RA,
|
||
Zeldenrust SR,
|
||
Gertz MA,
|
||
Lin G,
|
||
Klarich KW,
|
||
Miller WL,
|
||
Maleszewski JJ,
|
||
Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2016 Sep 6;68(10):1014-20.
|
||
doi: 10.1016/j.jacc.2016.06.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27585505" target="_blank">27585505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20347786">Genetics of restrictive cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sen-Chowdhry S,
|
||
Syrris P,
|
||
McKenna WJ</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2010 Apr;6(2):179-86.
|
||
doi: 10.1016/j.hfc.2009.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20347786" target="_blank">20347786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18435819">Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sandgren O,
|
||
Kjellgren D,
|
||
Suhr OB</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2008 Aug;86(5):520-4.
|
||
Epub 2008 Apr 24
|
||
doi: 10.1111/j.1600-0420.2007.01098.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18435819" target="_blank">18435819</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyloidosis%2C%20hereditary%20systemic%206%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 (81)</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/33155274">Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dohrn MF,
|
||
Ihne S,
|
||
Hegenbart U,
|
||
Medina J,
|
||
Züchner SL,
|
||
Coelho T,
|
||
Hahn K</span><br />
|
||
<span class="medgenPMjournal">J Neurochem</span>
|
||
2021 Mar;156(6):802-818.
|
||
Epub 2020 Dec 3
|
||
doi: 10.1111/jnc.15233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33155274" target="_blank">33155274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30742933">Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xin Y,
|
||
Hu W,
|
||
Chen X,
|
||
Hu J,
|
||
Sun Y,
|
||
Zhao Y</span><br />
|
||
<span class="medgenPMjournal">Hellenic J Cardiol</span>
|
||
2019 Nov-Dec;60(6):375-383.
|
||
Epub 2019 Feb 8
|
||
doi: 10.1016/j.hjc.2019.01.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30742933" target="_blank">30742933</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyloidosis%2C%20hereditary%20systemic%206%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
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|
||
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<div class=" bottom">
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</div>
|
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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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 class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyloidosis%2C%20hereditary%20systemic%206)%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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<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=109700" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=567[geneid]" target="_blank">View B2M variations in ClinVar</a></li><li><a href="/nuccore/259013218" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=620659" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1860723" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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