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<meta name="keywords" content="C0878544, cardiomyopathies, cardiomyopathy, cardiomyopathy,, cmyo, disease of the heart muscle, disease or syndrome, disease, myocardial, diseases, myocardial, disorder of heart muscle, disorder of myocardium, myocardial disease, myocardial diseases, myocardiopathies, myocardiopathy, rare cardiomyopathy, 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="A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=209232
|
||
ConceptID=C0878544
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cardiomyopathy<span class="h1sub">(CMYO)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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:">C0878544</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>Cardiomyopathies; CMYO</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of myocardium (57809008); Disorder of heart muscle (57809008); Cardiomyopathy (85898001); Myocardiopathy (85898001); Myocardial disease (57809008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/282996">RBM20</a>, <a target="_blank" href="/gene/91624">NEXN</a>, <a target="_blank" href="/gene/85366">MYLK2</a>, <a target="_blank" href="/gene/79188">TMEM43</a>, <a target="_blank" href="/gene/57158">JPH2</a>, <a target="_blank" href="/gene/51778">MYOZ2</a>, <a target="_blank" href="/gene/51422">PRKAG2</a>, <a target="_blank" href="/gene/27063">ANKRD1</a>, <a target="_blank" href="/gene/11155">LDB3</a>, <a target="_blank" href="/gene/10060">ABCC9</a>, <a target="_blank" href="/gene/9531">BAG3</a>, <a target="_blank" href="/gene/8557">TCAP</a>, <a target="_blank" href="/gene/8048">CSRP3</a>, <a target="_blank" href="/gene/7414">VCL</a>, <a target="_blank" href="/gene/7273">TTN</a>, <a target="_blank" href="/gene/7168">TPM1</a>, <a target="_blank" href="/gene/7139">TNNT2</a>, <a target="_blank" href="/gene/7137">TNNI3</a>, <a target="_blank" href="/gene/7134">TNNC1</a>, <a target="_blank" href="/gene/7112">TMPO</a>, <a target="_blank" href="/gene/7043">TGFB3</a>, <a target="_blank" href="/gene/6901">TAFAZZIN</a>, <a target="_blank" href="/gene/6444">SGCD</a>, <a target="_blank" href="/gene/6389">SDHA</a>, <a target="_blank" href="/gene/6331">SCN5A</a>, <a target="_blank" href="/gene/5664">PSEN2</a>, <a target="_blank" href="/gene/5663">PSEN1</a>, <a target="_blank" href="/gene/5350">PLN</a>, <a target="_blank" href="/gene/5318">PKP2</a>, <a target="_blank" href="/gene/4634">MYL3</a>, <a target="_blank" href="/gene/4633">MYL2</a>, <a target="_blank" href="/gene/4625">MYH7</a>, <a target="_blank" href="/gene/4624">MYH6</a>, <a target="_blank" href="/gene/4607">MYBPC3</a>, <a target="_blank" href="/gene/4000">LMNA</a>, <a target="_blank" href="/gene/3910">LAMA4</a>, <a target="_blank" href="/gene/3728">JUP</a>, <a target="_blank" href="/gene/2218">FKTN</a>, <a target="_blank" href="/gene/2070">EYA4</a>, <a target="_blank" href="/gene/1832">DSP</a>, <a target="_blank" href="/gene/1829">DSG2</a>, <a target="_blank" href="/gene/1824">DSC2</a>, <a target="_blank" href="/gene/1674">DES</a>, <a target="_blank" href="/gene/1410">CRYAB</a>, <a target="_blank" href="/gene/859">CAV3</a>, <a target="_blank" href="/gene/88">ACTN2</a>, <a target="_blank" href="/gene/70">ACTC1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001638">HP:0001638</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004994" target="_blank">MONDO:0004994</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=167848">ORPHA167848</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">
|
||
<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">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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><li><a href="#tabORDO">Orphanet</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=C0878544[DISCUI]&test_type=Clinical" ref="ncbi_uid=209232">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=209232" ref="ncbi_uid=209232">V</a></span></span><span class="TLline">Cardiomyopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0349788[DISCUI]&test_type=Clinical" ref="ncbi_uid=87618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=87618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87618" ref="ncbi_uid=87618">V</a></span></span><span class="TLline"><a href="/medgen/87618" ref="tree=GTR&ncbi_uid=87618&link_uid=87618" title="View MedGen record for 'Arrhythmogenic right ventricular cardiomyopathy'">Arrhythmogenic right ventricular cardiomyopathy</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=C1862511[DISCUI]&test_type=Clinical" ref="ncbi_uid=349530">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349530" target="_blank" href="/omim/107970">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=349530">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349530" ref="ncbi_uid=349530">V</a></span></span><span class="TLline"><a href="/medgen/349530" ref="tree=GTR&ncbi_uid=349530&link_uid=349530" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 1'">Arrhythmogenic right ventricular dysplasia 1</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=C1832931[DISCUI]&test_type=Clinical" ref="ncbi_uid=318748">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=318748">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318748" ref="ncbi_uid=318748">V</a></span></span><span class="TLline"><a href="/medgen/318748" ref="tree=GTR&ncbi_uid=318748&link_uid=318748" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 2'">Arrhythmogenic right ventricular dysplasia 2</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=C1865882[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=356108">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356108" target="_blank" href="/omim/602086">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=356108">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/356108" ref="tree=GTR&ncbi_uid=356108&link_uid=356108" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 3'">Arrhythmogenic right ventricular dysplasia 3</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=C1865881[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=356107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356107" target="_blank" href="/omim/602087">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=356107">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/356107" ref="tree=GTR&ncbi_uid=356107&link_uid=356107" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 4'">Arrhythmogenic right ventricular dysplasia 4</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=C1858379[DISCUI]&test_type=Clinical" ref="ncbi_uid=346805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346805" target="_blank" href="/omim/604400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=346805">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346805" ref="ncbi_uid=346805">V</a></span></span><span class="TLline"><a href="/medgen/346805" ref="tree=GTR&ncbi_uid=346805&link_uid=346805" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 5'">Arrhythmogenic right ventricular dysplasia 5</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=C1858378[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=346892">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346892" target="_blank" href="/omim/604401">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=346892">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/346892" ref="tree=GTR&ncbi_uid=346892&link_uid=346892" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 6'">Arrhythmogenic right ventricular dysplasia 6</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=C1843896[DISCUI]&test_type=Clinical" ref="ncbi_uid=336069">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336069" target="_blank" href="/omim/125647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=336069">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336069" ref="ncbi_uid=336069">V</a></span></span><span class="TLline"><a href="/medgen/336069" ref="tree=GTR&ncbi_uid=336069&link_uid=336069" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 8'">Arrhythmogenic right ventricular dysplasia 8</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=C1836906[DISCUI]&test_type=Clinical" ref="ncbi_uid=373205">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373205" target="_blank" href="/omim/602861">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=373205">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=373205" ref="ncbi_uid=373205">V</a></span></span><span class="TLline"><a href="/medgen/373205" ref="tree=GTR&ncbi_uid=373205&link_uid=373205" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 9'">Arrhythmogenic right ventricular dysplasia 9</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=C1857777[DISCUI]&test_type=Clinical" ref="ncbi_uid=347543">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347543" target="_blank" href="/omim/125671">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=347543">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347543" ref="ncbi_uid=347543">V</a></span></span><span class="TLline"><a href="/medgen/347543" ref="tree=GTR&ncbi_uid=347543&link_uid=347543" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 10'">Arrhythmogenic right ventricular dysplasia 10</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=C1864850[DISCUI]&test_type=Clinical" ref="ncbi_uid=351237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351237" target="_blank" href="/omim/125645">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=351237">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351237" ref="ncbi_uid=351237">V</a></span></span><span class="TLline"><a href="/medgen/351237" ref="tree=GTR&ncbi_uid=351237&link_uid=351237" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 11'">Arrhythmogenic right ventricular dysplasia 11</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=C1969081[DISCUI]&test_type=Clinical" ref="ncbi_uid=409749">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409749" target="_blank" href="/omim/173325">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=409749">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409749" ref="ncbi_uid=409749">V</a></span></span><span class="TLline"><a href="/medgen/409749" ref="tree=GTR&ncbi_uid=409749&link_uid=409749" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia 12'">Arrhythmogenic right ventricular dysplasia 12</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=C1836704[DISCUI]&test_type=Clinical" ref="ncbi_uid=373153">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1131/" ref="ncbi_uid=373153">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/373153" ref="tree=GTR&ncbi_uid=373153&link_uid=373153" title="View MedGen record for 'Arrhythmogenic right ventricular dysplasia, familial, 7'">Arrhythmogenic right ventricular dysplasia, familial, 7</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0007193[DISCUI]&test_type=Clinical" ref="ncbi_uid=2880">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=2880">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2880" ref="ncbi_uid=2880">V</a></span></span><span class="TLline"><a href="/medgen/2880" ref="tree=GTR&ncbi_uid=2880&link_uid=2880" title="View MedGen record for 'Primary dilated cardiomyopathy'">Primary dilated cardiomyopathy</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=C0340427[DISCUI]&test_type=Clinical" ref="ncbi_uid=90951">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=90951">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=90951" ref="ncbi_uid=90951">V</a></span></span><span class="TLline"><a href="/medgen/90951" ref="tree=GTR&ncbi_uid=90951&link_uid=90951" title="View MedGen record for 'Primary familial dilated cardiomyopathy'">Primary familial dilated cardiomyopathy</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=C0574083[DISCUI]&test_type=Clinical" ref="ncbi_uid=107893">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=107893" target="_blank" href="/omim/300394">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1309%20OR%20NBK247162)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=107893">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=107893" ref="ncbi_uid=107893">V</a></span></span><span class="TLline"><a href="/medgen/107893" ref="tree=GTR&ncbi_uid=107893&link_uid=107893" title="View MedGen record for '3-Methylglutaconic aciduria type 2'">3-Methylglutaconic aciduria type 2</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=C1832370[DISCUI]&test_type=Clinical" ref="ncbi_uid=330449">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330449" target="_blank" href="/omim/125660">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=330449">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330449" ref="ncbi_uid=330449">V</a></span></span><span class="TLline"><a href="/medgen/330449" ref="tree=GTR&ncbi_uid=330449&link_uid=330449" title="View MedGen record for 'Desmin-related myofibrillar myopathy'">Desmin-related myofibrillar myopathy</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=C1449563[DISCUI]&test_type=Clinical" ref="ncbi_uid=258500">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=258500" target="_blank" href="/omim/115200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1309%20OR%20NBK1674)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=258500">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=258500" ref="ncbi_uid=258500">V</a></span></span><span class="TLline"><a href="/medgen/258500" ref="tree=GTR&ncbi_uid=258500&link_uid=258500" title="View MedGen record for 'Dilated cardiomyopathy 1A'">Dilated cardiomyopathy 1A</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=C2677338[DISCUI]&test_type=Clinical" ref="ncbi_uid=393713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393713" target="_blank" href="/omim/102573">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=393713">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393713" ref="ncbi_uid=393713">V</a></span></span><span class="TLline"><a href="/medgen/393713" ref="tree=GTR&ncbi_uid=393713&link_uid=393713" title="View MedGen record for 'Dilated cardiomyopathy 1AA'">Dilated cardiomyopathy 1AA</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=1814491" target="_blank" href="/omim/600884">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=1814491">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1814491" ref="tree=GTR&ncbi_uid=1814491&link_uid=1814491" title="View MedGen record for 'Dilated cardiomyopathy 1B'">Dilated cardiomyopathy 1B</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=C2752072[DISCUI]&test_type=Clinical" ref="ncbi_uid=414552">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414552" target="_blank" href="/omim/125671">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=414552">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414552" ref="ncbi_uid=414552">V</a></span></span><span class="TLline"><a href="/medgen/414552" ref="tree=GTR&ncbi_uid=414552&link_uid=414552" title="View MedGen record for 'Dilated cardiomyopathy 1BB'">Dilated cardiomyopathy 1BB</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=C1832244[DISCUI]&test_type=Clinical" ref="ncbi_uid=316944">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=316944" target="_blank" href="/omim/601493">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=316944">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=316944" ref="ncbi_uid=316944">V</a></span></span><span class="TLline"><a href="/medgen/316944" ref="tree=GTR&ncbi_uid=316944&link_uid=316944" title="View MedGen record for 'Dilated cardiomyopathy 1C'">Dilated cardiomyopathy 1C</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=C2751084[DISCUI]&test_type=Clinical" ref="ncbi_uid=413929">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413929" target="_blank" href="/omim/613121">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=413929">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413929" ref="ncbi_uid=413929">V</a></span></span><span class="TLline"><a href="/medgen/413929" ref="tree=GTR&ncbi_uid=413929&link_uid=413929" title="View MedGen record for 'Dilated cardiomyopathy 1CC'">Dilated cardiomyopathy 1CC</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=C1832243[DISCUI]&test_type=Clinical" ref="ncbi_uid=316943">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=316943" target="_blank" href="/omim/191045">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=316943">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=316943" ref="ncbi_uid=316943">V</a></span></span><span class="TLline"><a href="/medgen/316943" ref="tree=GTR&ncbi_uid=316943&link_uid=316943" title="View MedGen record for 'Dilated cardiomyopathy 1D'">Dilated cardiomyopathy 1D</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=C2750995[DISCUI]&test_type=Clinical" ref="ncbi_uid=416441">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416441" target="_blank" href="/omim/613171">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=416441">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416441" ref="ncbi_uid=416441">V</a></span></span><span class="TLline"><a href="/medgen/416441" ref="tree=GTR&ncbi_uid=416441&link_uid=416441" title="View MedGen record for 'Dilated cardiomyopathy 1DD'">Dilated cardiomyopathy 1DD</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=C1832680[DISCUI]&test_type=Clinical" ref="ncbi_uid=331341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331341" target="_blank" href="/omim/600163">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=331341">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331341" ref="ncbi_uid=331341">V</a></span></span><span class="TLline"><a href="/medgen/331341" ref="tree=GTR&ncbi_uid=331341&link_uid=331341" title="View MedGen record for 'Dilated cardiomyopathy 1E'">Dilated cardiomyopathy 1E</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=C2750466[DISCUI]&test_type=Clinical" ref="ncbi_uid=412965">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412965" target="_blank" href="/omim/160710">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=412965">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412965" ref="ncbi_uid=412965">V</a></span></span><span class="TLline"><a href="/medgen/412965" ref="tree=GTR&ncbi_uid=412965&link_uid=412965" title="View MedGen record for 'Dilated cardiomyopathy 1EE'">Dilated cardiomyopathy 1EE</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=C2750091[DISCUI]&test_type=Clinical" ref="ncbi_uid=412876">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412876" target="_blank" href="/omim/191044">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=412876" ref="ncbi_uid=412876">V</a></span></span><span class="TLline"><a href="/medgen/412876" ref="tree=GTR&ncbi_uid=412876&link_uid=412876" title="View MedGen record for 'Dilated cardiomyopathy 1FF'">Dilated cardiomyopathy 1FF</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=C1858763[DISCUI]&test_type=Clinical" ref="ncbi_uid=347714">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347714" target="_blank" href="/omim/188840">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=347714">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347714" ref="ncbi_uid=347714">V</a></span></span><span class="TLline"><a href="/medgen/347714" ref="tree=GTR&ncbi_uid=347714&link_uid=347714" title="View MedGen record for 'Dilated cardiomyopathy 1G'">Dilated cardiomyopathy 1G</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=C3150898[DISCUI]&test_type=Clinical" ref="ncbi_uid=462248">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462248" target="_blank" href="/omim/600857">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=462248" ref="ncbi_uid=462248">V</a></span></span><span class="TLline"><a href="/medgen/462248" ref="tree=GTR&ncbi_uid=462248&link_uid=462248" title="View MedGen record for 'Dilated cardiomyopathy 1GG'">Dilated cardiomyopathy 1GG</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=348980" target="_blank" href="/omim/604288">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=348980">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/348980" ref="tree=GTR&ncbi_uid=348980&link_uid=348980" title="View MedGen record for 'Dilated cardiomyopathy 1H'">Dilated cardiomyopathy 1H</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=C3151293[DISCUI]&test_type=Clinical" ref="ncbi_uid=462643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462643" target="_blank" href="/omim/603883">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=462643">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462643" ref="ncbi_uid=462643">V</a></span></span><span class="TLline"><a href="/medgen/462643" ref="tree=GTR&ncbi_uid=462643&link_uid=462643" title="View MedGen record for 'Dilated cardiomyopathy 1HH'">Dilated cardiomyopathy 1HH</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=C1858154[DISCUI]&test_type=Clinical" ref="ncbi_uid=387998">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387998" target="_blank" href="/omim/125660">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=387998">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387998" ref="ncbi_uid=387998">V</a></span></span><span class="TLline"><a href="/medgen/387998" ref="tree=GTR&ncbi_uid=387998&link_uid=387998" title="View MedGen record for 'Dilated cardiomyopathy 1I'">Dilated cardiomyopathy 1I</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=C3554649[DISCUI]&test_type=Clinical" ref="ncbi_uid=767563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767563" target="_blank" href="/omim/123590">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=767563" ref="ncbi_uid=767563">V</a></span></span><span class="TLline"><a href="/medgen/767563" ref="tree=GTR&ncbi_uid=767563&link_uid=767563" title="View MedGen record for 'Dilated cardiomyopathy 1II'">Dilated cardiomyopathy 1II</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=C1854368[DISCUI]&test_type=Clinical" ref="ncbi_uid=343105">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343105" target="_blank" href="/omim/603550">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=343105">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343105" ref="ncbi_uid=343105">V</a></span></span><span class="TLline"><a href="/medgen/343105" ref="tree=GTR&ncbi_uid=343105&link_uid=343105" title="View MedGen record for 'Dilated cardiomyopathy 1J'">Dilated cardiomyopathy 1J</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=C3808935[DISCUI]&test_type=Clinical" ref="ncbi_uid=815265">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815265" target="_blank" href="/omim/600133">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=815265" ref="ncbi_uid=815265">V</a></span></span><span class="TLline"><a href="/medgen/815265" ref="tree=GTR&ncbi_uid=815265&link_uid=815265" title="View MedGen record for 'Dilated cardiomyopathy 1JJ'">Dilated cardiomyopathy 1JJ</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=381354" target="_blank" href="/omim/605582">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=381354">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381354" ref="tree=GTR&ncbi_uid=381354&link_uid=381354" title="View MedGen record for 'Dilated cardiomyopathy 1K'">Dilated cardiomyopathy 1K</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=C1847667[DISCUI]&test_type=Clinical" ref="ncbi_uid=335735">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335735" target="_blank" href="/omim/601411">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=335735" ref="ncbi_uid=335735">V</a></span></span><span class="TLline"><a href="/medgen/335735" ref="tree=GTR&ncbi_uid=335735&link_uid=335735" title="View MedGen record for 'Dilated cardiomyopathy 1L'">Dilated cardiomyopathy 1L</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=C1843808[DISCUI]&test_type=Clinical" ref="ncbi_uid=334498">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334498" target="_blank" href="/omim/600824">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=334498">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334498" ref="ncbi_uid=334498">V</a></span></span><span class="TLline"><a href="/medgen/334498" ref="tree=GTR&ncbi_uid=334498&link_uid=334498" title="View MedGen record for 'Dilated cardiomyopathy 1M'">Dilated cardiomyopathy 1M</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=C1837839[DISCUI]&test_type=Clinical" ref="ncbi_uid=325268">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325268" target="_blank" href="/omim/601439">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=325268">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325268" ref="ncbi_uid=325268">V</a></span></span><span class="TLline"><a href="/medgen/325268" ref="tree=GTR&ncbi_uid=325268&link_uid=325268" title="View MedGen record for 'Dilated cardiomyopathy 1O'">Dilated cardiomyopathy 1O</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=C1835928[DISCUI]&test_type=Clinical" ref="ncbi_uid=322782">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322782" target="_blank" href="/omim/172405">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=322782">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322782" ref="ncbi_uid=322782">V</a></span></span><span class="TLline"><a href="/medgen/322782" ref="tree=GTR&ncbi_uid=322782&link_uid=322782" title="View MedGen record for 'Dilated cardiomyopathy 1P'">Dilated cardiomyopathy 1P</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=332088" target="_blank" href="/omim/609915">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/332088" ref="tree=GTR&ncbi_uid=332088&link_uid=332088" title="View MedGen record for 'Dilated cardiomyopathy 1Q'">Dilated cardiomyopathy 1Q</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=C3150681[DISCUI]&test_type=Clinical" ref="ncbi_uid=462031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462031" target="_blank" href="/omim/102540">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=462031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462031" ref="ncbi_uid=462031">V</a></span></span><span class="TLline"><a href="/medgen/462031" ref="tree=GTR&ncbi_uid=462031&link_uid=462031" title="View MedGen record for 'Dilated cardiomyopathy 1R'">Dilated cardiomyopathy 1R</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=C1834481[DISCUI]&test_type=Clinical" ref="ncbi_uid=371831">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371831" target="_blank" href="/omim/160760">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=371831" ref="ncbi_uid=371831">V</a></span></span><span class="TLline"><a href="/medgen/371831" ref="tree=GTR&ncbi_uid=371831&link_uid=371831" title="View MedGen record for 'Dilated cardiomyopathy 1S'">Dilated cardiomyopathy 1S</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=C3151039[DISCUI]&test_type=Clinical" ref="ncbi_uid=462389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=462389">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462389" ref="ncbi_uid=462389">V</a></span></span><span class="TLline"><a href="/medgen/462389" ref="tree=GTR&ncbi_uid=462389&link_uid=462389" title="View MedGen record for 'Dilated cardiomyopathy 1T'">Dilated cardiomyopathy 1T</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=C3150958[DISCUI]&test_type=Clinical" ref="ncbi_uid=462308">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462308" target="_blank" href="/omim/600759">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=462308">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462308" ref="ncbi_uid=462308">V</a></span></span><span class="TLline"><a href="/medgen/462308" ref="tree=GTR&ncbi_uid=462308&link_uid=462308" title="View MedGen record for 'Dilated cardiomyopathy 1V'">Dilated cardiomyopathy 1V</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=C1969639[DISCUI]&test_type=Clinical" ref="ncbi_uid=370063">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370063" target="_blank" href="/omim/193065">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=370063">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370063" ref="ncbi_uid=370063">V</a></span></span><span class="TLline"><a href="/medgen/370063" ref="tree=GTR&ncbi_uid=370063&link_uid=370063" title="View MedGen record for 'Dilated cardiomyopathy 1W'">Dilated cardiomyopathy 1W</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=C1969024[DISCUI]&test_type=Clinical" ref="ncbi_uid=370583">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370583" target="_blank" href="/omim/607440">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=370583">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370583" ref="ncbi_uid=370583">V</a></span></span><span class="TLline"><a href="/medgen/370583" ref="tree=GTR&ncbi_uid=370583&link_uid=370583" title="View MedGen record for 'Dilated cardiomyopathy 1X'">Dilated cardiomyopathy 1X</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=C2678476[DISCUI]&test_type=Clinical" ref="ncbi_uid=437215">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=437215" target="_blank" href="/omim/191010">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=437215">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=437215" ref="ncbi_uid=437215">V</a></span></span><span class="TLline"><a href="/medgen/437215" ref="tree=GTR&ncbi_uid=437215&link_uid=437215" title="View MedGen record for 'Dilated cardiomyopathy 1Y'">Dilated cardiomyopathy 1Y</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=C2678475[DISCUI]&test_type=Clinical" ref="ncbi_uid=395631">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395631" target="_blank" href="/omim/191040">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=395631" ref="ncbi_uid=395631">V</a></span></span><span class="TLline"><a href="/medgen/395631" ref="tree=GTR&ncbi_uid=395631&link_uid=395631" title="View MedGen record for 'Dilated cardiomyopathy 1Z'">Dilated cardiomyopathy 1Z</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=C2678474[DISCUI]&test_type=Clinical" ref="ncbi_uid=437214">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=437214" target="_blank" href="/omim/191044">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=437214">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=437214" ref="ncbi_uid=437214">V</a></span></span><span class="TLline"><a href="/medgen/437214" ref="tree=GTR&ncbi_uid=437214&link_uid=437214" title="View MedGen record for 'Dilated cardiomyopathy 2A'">Dilated cardiomyopathy 2A</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=C4225408[DISCUI]&test_type=Clinical" ref="ncbi_uid=895360">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=895360" target="_blank" href="/omim/604488">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=895360">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=895360" ref="ncbi_uid=895360">V</a></span></span><span class="TLline"><a href="/medgen/895360" ref="tree=GTR&ncbi_uid=895360&link_uid=895360" title="View MedGen record for 'Hypertrophic cardiomyopathy 25'">Hypertrophic cardiomyopathy 25</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0949658[DISCUI]&test_type=Clinical" ref="ncbi_uid=183649">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=183649" target="_blank" href="/omim/192600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=183649">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=183649" ref="ncbi_uid=183649">V</a></span></span><span class="TLline"><a href="/medgen/183649" ref="tree=GTR&ncbi_uid=183649&link_uid=183649" title="View MedGen record for 'Primary familial hypertrophic cardiomyopathy'">Primary familial hypertrophic cardiomyopathy</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=C4016270[DISCUI]&test_type=Clinical" ref="ncbi_uid=864707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864707" target="_blank" href="/omim/160760">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=864707" ref="ncbi_uid=864707">V</a></span></span><span class="TLline"><a href="/medgen/864707" ref="tree=GTR&ncbi_uid=864707&link_uid=864707" title="View MedGen record for 'Cardiomyopathy, hypertrophic, midventricular, digenic'">Cardiomyopathy, hypertrophic, midventricular, digenic</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=C3495498[DISCUI]&test_type=Clinical" ref="ncbi_uid=501195">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501195" target="_blank" href="/omim/160760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=501195">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501195" ref="ncbi_uid=501195">V</a></span></span><span class="TLline"><a href="/medgen/501195" ref="tree=GTR&ncbi_uid=501195&link_uid=501195" title="View MedGen record for 'Hypertrophic cardiomyopathy 1'">Hypertrophic cardiomyopathy 1</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=C1861864[DISCUI]&test_type=Clinical" ref="ncbi_uid=349383">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349383" target="_blank" href="/omim/115195">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=349383">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349383" ref="ncbi_uid=349383">V</a></span></span><span class="TLline"><a href="/medgen/349383" ref="tree=GTR&ncbi_uid=349383&link_uid=349383" title="View MedGen record for 'Hypertrophic cardiomyopathy 2'">Hypertrophic cardiomyopathy 2</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=C1861863[DISCUI]&test_type=Clinical" ref="ncbi_uid=349382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349382" target="_blank" href="/omim/115196">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=349382">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349382" ref="ncbi_uid=349382">V</a></span></span><span class="TLline"><a href="/medgen/349382" ref="tree=GTR&ncbi_uid=349382&link_uid=349382" title="View MedGen record for 'Hypertrophic cardiomyopathy 3'">Hypertrophic cardiomyopathy 3</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=C1861862[DISCUI]&test_type=Clinical" ref="ncbi_uid=350526">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350526" target="_blank" href="/omim/115197">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=350526">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350526" ref="ncbi_uid=350526">V</a></span></span><span class="TLline"><a href="/medgen/350526" ref="tree=GTR&ncbi_uid=350526&link_uid=350526" title="View MedGen record for 'Hypertrophic cardiomyopathy 4'">Hypertrophic cardiomyopathy 4</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=C1833236[DISCUI]&test_type=Clinical" ref="ncbi_uid=331466">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331466" target="_blank" href="/omim/600858">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=331466">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331466" ref="ncbi_uid=331466">V</a></span></span><span class="TLline"><a href="/medgen/331466" ref="tree=GTR&ncbi_uid=331466&link_uid=331466" title="View MedGen record for 'Hypertrophic cardiomyopathy 6'">Hypertrophic cardiomyopathy 6</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=C1860752[DISCUI]&test_type=Clinical" ref="ncbi_uid=348695">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348695" target="_blank" href="/omim/191044">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=348695" ref="ncbi_uid=348695">V</a></span></span><span class="TLline"><a href="/medgen/348695" ref="tree=GTR&ncbi_uid=348695&link_uid=348695" title="View MedGen record for 'Hypertrophic cardiomyopathy 7'">Hypertrophic cardiomyopathy 7</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=C1837471[DISCUI]&test_type=Clinical" ref="ncbi_uid=324806">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324806" target="_blank" href="/omim/160790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=324806">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324806" ref="ncbi_uid=324806">V</a></span></span><span class="TLline"><a href="/medgen/324806" ref="tree=GTR&ncbi_uid=324806&link_uid=324806" title="View MedGen record for 'Hypertrophic cardiomyopathy 8'">Hypertrophic cardiomyopathy 8</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=C1861065[DISCUI]&test_type=Clinical" ref="ncbi_uid=348780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348780" target="_blank" href="/omim/188840">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=348780" ref="ncbi_uid=348780">V</a></span></span><span class="TLline"><a href="/medgen/348780" ref="tree=GTR&ncbi_uid=348780&link_uid=348780" title="View MedGen record for 'Hypertrophic cardiomyopathy 9'">Hypertrophic cardiomyopathy 9</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=C1834460[DISCUI]&test_type=Clinical" ref="ncbi_uid=331754">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331754" target="_blank" href="/omim/160781">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=331754">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331754" ref="ncbi_uid=331754">V</a></span></span><span class="TLline"><a href="/medgen/331754" ref="tree=GTR&ncbi_uid=331754&link_uid=331754" title="View MedGen record for 'Hypertrophic cardiomyopathy 10'">Hypertrophic cardiomyopathy 10</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=C2677506[DISCUI]&test_type=Clinical" ref="ncbi_uid=436962">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436962" target="_blank" href="/omim/102540">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=436962">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436962" ref="ncbi_uid=436962">V</a></span></span><span class="TLline"><a href="/medgen/436962" ref="tree=GTR&ncbi_uid=436962&link_uid=436962" title="View MedGen record for 'Hypertrophic cardiomyopathy 11'">Hypertrophic cardiomyopathy 11</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=C2677491[DISCUI]&test_type=Clinical" ref="ncbi_uid=393755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393755" target="_blank" href="/omim/600824">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=393755" ref="ncbi_uid=393755">V</a></span></span><span class="TLline"><a href="/medgen/393755" ref="tree=GTR&ncbi_uid=393755&link_uid=393755" title="View MedGen record for 'Hypertrophic cardiomyopathy 12'">Hypertrophic cardiomyopathy 12</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=C2750472[DISCUI]&test_type=Clinical" ref="ncbi_uid=442487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442487" target="_blank" href="/omim/191040">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=442487" ref="ncbi_uid=442487">V</a></span></span><span class="TLline"><a href="/medgen/442487" ref="tree=GTR&ncbi_uid=442487&link_uid=442487" title="View MedGen record for 'Hypertrophic cardiomyopathy 13'">Hypertrophic cardiomyopathy 13</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=C2750467[DISCUI]&test_type=Clinical" ref="ncbi_uid=442484">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442484" target="_blank" href="/omim/160710">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=442484" ref="ncbi_uid=442484">V</a></span></span><span class="TLline"><a href="/medgen/442484" ref="tree=GTR&ncbi_uid=442484&link_uid=442484" title="View MedGen record for 'Hypertrophic cardiomyopathy 14'">Hypertrophic cardiomyopathy 14</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=C2750459[DISCUI]&test_type=Clinical" ref="ncbi_uid=413312">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413312" target="_blank" href="/omim/193065">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=413312" ref="ncbi_uid=413312">V</a></span></span><span class="TLline"><a href="/medgen/413312" ref="tree=GTR&ncbi_uid=413312&link_uid=413312" title="View MedGen record for 'Hypertrophic cardiomyopathy 15'">Hypertrophic cardiomyopathy 15</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=C3151204[DISCUI]&test_type=Clinical" ref="ncbi_uid=462554">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462554" target="_blank" href="/omim/605602">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=462554">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462554" ref="ncbi_uid=462554">V</a></span></span><span class="TLline"><a href="/medgen/462554" ref="tree=GTR&ncbi_uid=462554&link_uid=462554" title="View MedGen record for 'Hypertrophic cardiomyopathy 16'">Hypertrophic cardiomyopathy 16</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=C3151264[DISCUI]&test_type=Clinical" ref="ncbi_uid=462614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462614" target="_blank" href="/omim/605267">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=462614" ref="ncbi_uid=462614">V</a></span></span><span class="TLline"><a href="/medgen/462614" ref="tree=GTR&ncbi_uid=462614&link_uid=462614" title="View MedGen record for 'Hypertrophic cardiomyopathy 17'">Hypertrophic cardiomyopathy 17</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=C3151265[DISCUI]&test_type=Clinical" ref="ncbi_uid=462615">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462615" target="_blank" href="/omim/172405">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=462615">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462615" ref="ncbi_uid=462615">V</a></span></span><span class="TLline"><a href="/medgen/462615" ref="tree=GTR&ncbi_uid=462615&link_uid=462615" title="View MedGen record for 'Hypertrophic cardiomyopathy 18'">Hypertrophic cardiomyopathy 18</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=CN077603[DISCUI]&test_type=Clinical" ref="ncbi_uid=450078">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=450078" ref="ncbi_uid=450078">V</a></span></span><span class="TLline"><a href="/medgen/450078" ref="tree=GTR&ncbi_uid=450078&link_uid=450078" title="View MedGen record for 'Hypertrophic cardiomyopathy 19'">Hypertrophic cardiomyopathy 19</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=C3151267[DISCUI]&test_type=Clinical" ref="ncbi_uid=462617">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462617" target="_blank" href="/omim/613121">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=462617">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462617" ref="ncbi_uid=462617">V</a></span></span><span class="TLline"><a href="/medgen/462617" ref="tree=GTR&ncbi_uid=462617&link_uid=462617" title="View MedGen record for 'Hypertrophic cardiomyopathy 20'">Hypertrophic cardiomyopathy 20</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=766356" target="_blank" href="/omim/614676">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=766356" ref="ncbi_uid=766356">V</a></span></span><span class="TLline"><a href="/medgen/766356" ref="tree=GTR&ncbi_uid=766356&link_uid=766356" title="View MedGen record for 'Hypertrophic cardiomyopathy 21'">Hypertrophic cardiomyopathy 21</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871271" ref="tree=MeSH" title="MedGen record for Abnormal myocardium morphology">Abnormal myocardium morphology</a></span><ul><li><span class="matched_ds">Cardiomyopathy</span><ul><li><span class="TLline"><a href="/medgen/2879" ref="tree=MeSH" title="MedGen record for Alcoholic cardiomyopathy">Alcoholic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1791459" ref="tree=MeSH" title="MedGen record for Arrhythmia-Induced Cardiomyopathy">Arrhythmia-Induced Cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/87618" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular cardiomyopathy">Arrhythmogenic right ventricular cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/349530" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 1">Arrhythmogenic right ventricular dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/318748" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 2">Arrhythmogenic right ventricular dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/356108" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 3">Arrhythmogenic right ventricular dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/356107" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 4">Arrhythmogenic right ventricular dysplasia 4</a></span></li><li><span class="TLline"><a href="/medgen/346805" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 5">Arrhythmogenic right ventricular dysplasia 5</a></span></li><li><span class="TLline"><a href="/medgen/346892" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 6">Arrhythmogenic right ventricular dysplasia 6</a></span></li><li><span class="TLline"><a href="/medgen/336069" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 8">Arrhythmogenic right ventricular dysplasia 8</a></span></li><li><span class="TLline"><a href="/medgen/373205" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 9">Arrhythmogenic right ventricular dysplasia 9</a></span></li><li><span class="TLline"><a href="/medgen/347543" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 10">Arrhythmogenic right ventricular dysplasia 10</a></span></li><li><span class="TLline"><a href="/medgen/351237" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 11">Arrhythmogenic right ventricular dysplasia 11</a></span></li><li><span class="TLline"><a href="/medgen/409749" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 12">Arrhythmogenic right ventricular dysplasia 12</a></span></li><li><span class="TLline"><a href="/medgen/816468" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia 13">Arrhythmogenic right ventricular dysplasia 13</a></span></li><li><span class="TLline"><a href="/medgen/373153" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular dysplasia, familial, 7">Arrhythmogenic right ventricular dysplasia, familial, 7</a></span></li><li><span class="TLline"><a href="/medgen/901869" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic right ventricular dysplasia">Familial isolated arrhythmogenic right ventricular dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1864265" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic ventricular dysplasia, biventricular form">Familial isolated arrhythmogenic ventricular dysplasia, biventricular form</a></span></li><li><span class="TLline"><a href="/medgen/1863454" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic ventricular dysplasia, left dominant form">Familial isolated arrhythmogenic ventricular dysplasia, left dominant form</a></span></li><li><span class="TLline"><a href="/medgen/1864032" ref="tree=MeSH" title="MedGen record for Familial isolated arrhythmogenic ventricular dysplasia, right dominant form">Familial isolated arrhythmogenic ventricular dysplasia, right dominant form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/321991" ref="tree=MeSH" title="MedGen record for Naxos disease">Naxos disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867504" ref="tree=MeSH" title="MedGen record for Atrial cardiomyopathy">Atrial cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/868" ref="tree=MeSH" title="MedGen record for Chagas cardiomyopathy">Chagas cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/208887" ref="tree=MeSH" title="MedGen record for Diabetic cardiomyopathy">Diabetic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/4041" ref="tree=MeSH" title="MedGen record for Endocardial fibroelastosis">Endocardial fibroelastosis</a></span><ul><li><span class="TLline"><a href="/medgen/403467" ref="tree=MeSH" title="MedGen record for Isolated Noncompaction of the Ventricular Myocardium">Isolated Noncompaction of the Ventricular Myocardium</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107513" ref="tree=MeSH" title="MedGen record for Endomyocardial fibrosis">Endomyocardial fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/310844" ref="tree=MeSH" title="MedGen record for Histiocytoid cardiomyopathy">Histiocytoid cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/2881" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1671104" ref="tree=MeSH" title="MedGen record for Apical hypertrophic cardiomyopathy">Apical hypertrophic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/104705" ref="tree=MeSH" title="MedGen record for Asymmetric septal hypertrophy">Asymmetric septal hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/68651" ref="tree=MeSH" title="MedGen record for Concentric hypertrophic cardiomyopathy">Concentric hypertrophic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/183649" ref="tree=MeSH" title="MedGen record for Primary familial hypertrophic cardiomyopathy">Primary familial hypertrophic cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1648325" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, familial hypertrophic 27">Cardiomyopathy, familial hypertrophic 27</a></span></li><li><span class="TLline"><a href="/medgen/864707" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, hypertrophic, midventricular, digenic">Cardiomyopathy, hypertrophic, midventricular, digenic</a></span></li><li><span class="TLline"><a href="/medgen/501195" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 1">Hypertrophic cardiomyopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/349383" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 2">Hypertrophic cardiomyopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/349382" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 3">Hypertrophic cardiomyopathy 3</a></span></li><li><span class="TLline"><a href="/medgen/350526" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 4">Hypertrophic cardiomyopathy 4</a></span></li><li><span class="TLline"><a href="/medgen/331466" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 6">Hypertrophic cardiomyopathy 6</a></span></li><li><span class="TLline"><a href="/medgen/348695" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 7">Hypertrophic cardiomyopathy 7</a></span></li><li><span class="TLline"><a href="/medgen/324806" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 8">Hypertrophic cardiomyopathy 8</a></span></li><li><span class="TLline"><a href="/medgen/348780" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 9">Hypertrophic cardiomyopathy 9</a></span></li><li><span class="TLline"><a href="/medgen/331754" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 10">Hypertrophic cardiomyopathy 10</a></span></li><li><span class="TLline"><a href="/medgen/436962" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 11">Hypertrophic cardiomyopathy 11</a></span></li><li><span class="TLline"><a href="/medgen/393755" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 12">Hypertrophic cardiomyopathy 12</a></span></li><li><span class="TLline"><a href="/medgen/442487" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 13">Hypertrophic cardiomyopathy 13</a></span></li><li><span class="TLline"><a href="/medgen/442484" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 14">Hypertrophic cardiomyopathy 14</a></span></li><li><span class="TLline"><a href="/medgen/413312" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 15">Hypertrophic cardiomyopathy 15</a></span></li><li><span class="TLline"><a href="/medgen/462554" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 16">Hypertrophic cardiomyopathy 16</a></span></li><li><span class="TLline"><a href="/medgen/462614" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 17">Hypertrophic cardiomyopathy 17</a></span></li><li><span class="TLline"><a href="/medgen/462615" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 18">Hypertrophic cardiomyopathy 18</a></span></li><li><span class="TLline"><a href="/medgen/450078" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 19">Hypertrophic cardiomyopathy 19</a></span></li><li><span class="TLline"><a href="/medgen/462617" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 20">Hypertrophic cardiomyopathy 20</a></span></li><li><span class="TLline"><a href="/medgen/766356" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 21">Hypertrophic cardiomyopathy 21</a></span></li><li><span class="TLline"><a href="/medgen/934716" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 26">Hypertrophic cardiomyopathy 26</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/18634" ref="tree=MeSH" title="MedGen record for Idiopathic cardiomyopathy">Idiopathic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/82685" ref="tree=MeSH" title="MedGen record for Idiopathic giant cell myocarditis">Idiopathic giant cell myocarditis</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44552" ref="tree=MeSH" title="MedGen record for Myocardial Reperfusion Injury">Myocardial Reperfusion Injury</a></span></li><li><span class="TLline"><a href="/medgen/44553" ref="tree=MeSH" title="MedGen record for Myocarditis">Myocarditis</a></span><ul><li><span class="TLline"><a href="/medgen/102339" ref="tree=MeSH" title="MedGen record for Acute myocarditis">Acute myocarditis</a></span><ul><li><span class="TLline"><a href="/medgen/56370" ref="tree=MeSH" title="MedGen record for Rheumatic myocarditis">Rheumatic myocarditis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/730492" ref="tree=MeSH" title="MedGen record for Bacterial myocarditis">Bacterial myocarditis</a></span></li><li><span class="TLline"><a href="/medgen/1785116" ref="tree=MeSH" title="MedGen record for Immune Checkpoint Inhibitor-related Myocarditis">Immune Checkpoint Inhibitor-related Myocarditis</a></span></li><li><span class="TLline"><a href="/medgen/44554" ref="tree=MeSH" title="MedGen record for Interstitial myocarditis">Interstitial myocarditis</a></span></li><li><span class="TLline"><a href="/medgen/547112" ref="tree=MeSH" title="MedGen record for Viral myocarditis">Viral myocarditis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/326592" ref="tree=MeSH" title="MedGen record for Noncompaction cardiomyopathy">Noncompaction cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/868319" ref="tree=MeSH" title="MedGen record for Biventricular noncompaction cardiomyopathy">Biventricular noncompaction cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/866782" ref="tree=MeSH" title="MedGen record for Left ventricular noncompaction cardiomyopathy">Left ventricular noncompaction cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/767410" ref="tree=MeSH" title="MedGen record for Left ventricular noncompaction 7">Left ventricular noncompaction 7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868320" ref="tree=MeSH" title="MedGen record for Right ventricular noncompaction cardiomyopathy">Right ventricular noncompaction cardiomyopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163756" ref="tree=MeSH" title="MedGen record for Peripartum cardiomyopathy">Peripartum cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/2880" ref="tree=MeSH" title="MedGen record for Primary dilated cardiomyopathy">Primary dilated cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/258500" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1A">Dilated cardiomyopathy 1A</a></span></li><li><span class="TLline"><a href="/medgen/316944" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1C">Dilated cardiomyopathy 1C</a></span></li><li><span class="TLline"><a href="/medgen/416441" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1DD">Dilated cardiomyopathy 1DD</a></span></li><li><span class="TLline"><a href="/medgen/322782" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1P">Dilated cardiomyopathy 1P</a></span></li><li><span class="TLline"><a href="/medgen/90951" ref="tree=MeSH" title="MedGen record for Primary familial dilated cardiomyopathy">Primary familial dilated cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/330449" ref="tree=MeSH" title="MedGen record for Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></span></li><li><span class="TLline"><a href="/medgen/393713" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1AA">Dilated cardiomyopathy 1AA</a></span></li><li><span class="TLline"><a href="/medgen/1814491" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1B">Dilated cardiomyopathy 1B</a></span></li><li><span class="TLline"><a href="/medgen/414552" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1BB">Dilated cardiomyopathy 1BB</a></span></li><li><span class="TLline"><a href="/medgen/413929" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1CC">Dilated cardiomyopathy 1CC</a></span></li><li><span class="TLline"><a href="/medgen/316943" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1D">Dilated cardiomyopathy 1D</a></span></li><li><span class="TLline"><a href="/medgen/331341" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1E">Dilated cardiomyopathy 1E</a></span></li><li><span class="TLline"><a href="/medgen/412965" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1EE">Dilated cardiomyopathy 1EE</a></span></li><li><span class="TLline"><a href="/medgen/412876" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1FF">Dilated cardiomyopathy 1FF</a></span></li><li><span class="TLline"><a href="/medgen/347714" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1G">Dilated cardiomyopathy 1G</a></span></li><li><span class="TLline"><a href="/medgen/462248" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1GG">Dilated cardiomyopathy 1GG</a></span></li><li><span class="TLline"><a href="/medgen/348980" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1H">Dilated cardiomyopathy 1H</a></span></li><li><span class="TLline"><a href="/medgen/462643" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1HH">Dilated cardiomyopathy 1HH</a></span></li><li><span class="TLline"><a href="/medgen/387998" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1I">Dilated cardiomyopathy 1I</a></span></li><li><span class="TLline"><a href="/medgen/767563" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1II">Dilated cardiomyopathy 1II</a></span></li><li><span class="TLline"><a href="/medgen/343105" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1J">Dilated cardiomyopathy 1J</a></span></li><li><span class="TLline"><a href="/medgen/815265" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1JJ">Dilated cardiomyopathy 1JJ</a></span></li><li><span class="TLline"><a href="/medgen/381354" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1K">Dilated cardiomyopathy 1K</a></span></li><li><span class="TLline"><a href="/medgen/335735" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1L">Dilated cardiomyopathy 1L</a></span></li><li><span class="TLline"><a href="/medgen/334498" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1M">Dilated cardiomyopathy 1M</a></span></li><li><span class="TLline"><a href="/medgen/325268" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1O">Dilated cardiomyopathy 1O</a></span></li><li><span class="TLline"><a href="/medgen/332088" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1Q">Dilated cardiomyopathy 1Q</a></span></li><li><span class="TLline"><a href="/medgen/462031" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1R">Dilated cardiomyopathy 1R</a></span></li><li><span class="TLline"><a href="/medgen/371831" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1S">Dilated cardiomyopathy 1S</a></span></li><li><span class="TLline"><a href="/medgen/462389" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1T">Dilated cardiomyopathy 1T</a></span></li><li><span class="TLline"><a href="/medgen/462308" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1V">Dilated cardiomyopathy 1V</a></span></li><li><span class="TLline"><a href="/medgen/370063" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1W">Dilated cardiomyopathy 1W</a></span></li><li><span class="TLline"><a href="/medgen/370583" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1X">Dilated cardiomyopathy 1X</a></span></li><li><span class="TLline"><a href="/medgen/437215" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1Y">Dilated cardiomyopathy 1Y</a></span></li><li><span class="TLline"><a href="/medgen/395631" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 1Z">Dilated cardiomyopathy 1Z</a></span></li><li><span class="TLline"><a href="/medgen/437214" ref="tree=MeSH" title="MedGen record for Dilated cardiomyopathy 2A">Dilated cardiomyopathy 2A</a></span></li><li><span class="TLline"><a href="/medgen/1826005" ref="tree=MeSH" title="MedGen record for Familial isolated dilated cardiomyopathy">Familial isolated dilated cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/6642" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type IV">Glycogen storage disease, type IV</a></span></li><li><span class="TLline"><a href="/medgen/331549" ref="tree=MeSH" title="MedGen record for HEC syndrome">HEC syndrome</a></span></li><li><span class="TLline"><a href="/medgen/895360" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 25">Hypertrophic cardiomyopathy 25</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/40111" ref="tree=MeSH" title="MedGen record for Restrictive cardiomyopathy">Restrictive cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/424705" ref="tree=MeSH" title="MedGen record for Sarcoglycanopathy">Sarcoglycanopathy</a></span><ul><li><span class="TLline"><a href="/medgen/98045" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2C">Autosomal recessive limb-girdle muscular dystrophy type 2C</a></span></li><li><span class="TLline"><a href="/medgen/424706" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2D">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></span></li><li><span class="TLline"><a href="/medgen/418943" ref="tree=MeSH" title="MedGen record for Qualitative or quantitative defects of beta-sarcoglycan">Qualitative or quantitative defects of beta-sarcoglycan</a></span><ul><li><span class="TLline"><a href="/medgen/347674" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2E">Autosomal recessive limb-girdle muscular dystrophy type 2E</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1826098" ref="tree=MeSH" title="MedGen record for Qualitative or quantitative defects of delta-sarcoglycan">Qualitative or quantitative defects of delta-sarcoglycan</a></span><ul><li><span class="TLline"><a href="/medgen/331308" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2F">Autosomal recessive limb-girdle muscular dystrophy type 2F</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/366029" ref="tree=MeSH" title="MedGen record for Takotsubo cardiomyopathy">Takotsubo cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1709363" ref="tree=MeSH" title="MedGen record for Transthyretin Amyloid Cardiomyopathy">Transthyretin Amyloid Cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1719381" ref="tree=MeSH" title="MedGen record for Hereditary Transthyretin Amyloid Cardiomyopathy">Hereditary Transthyretin Amyloid Cardiomyopathy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=17712&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Cardiomyopathy</span> in Orphanet.</div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_2562"><div><strong>Beckwith-Wiedemann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2562</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.">C0004903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases / posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. Although most individuals with BWS show rapid growth in late fetal development and early childhood, growth rate usually slows by age seven to eight years. Adult heights are typically within the normal range. Hemihyperplasia (also known as lateralized overgrowth) is often appreciated at birth and may become more or less evident over time. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Hemihyperplasia may be limited to one side of the body (ipsilateral) or involve opposite sides of the body (contralateral). Macroglossia is generally present at birth and can obstruct breathing or interfere with feeding in infants. Neonatal hypoglycemia occurs in approximately 50% of infants with BWS; most episodes are mild and transient. However, in some cases, persistent hypoglycemia due to hyperinsulinism may require consultation with an endocrinologist for therapeutic intervention. With respect to the increased risk for embryonal tumor development, the risk for Wilms tumor appears to be concentrated in the first seven years of life, whereas the risk for developing hepatoblastoma is concentrated in the first three to four years of life. Cognitive and neurobehavioral development is usually normal. After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/2562">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_3925"><div><strong>Duchenne muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3925</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.">C0013264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3925">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_6641"><div><strong>Glycogen storage disease type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6641</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.">C0017922</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all affected individuals. In infancy and early childhood, liver involvement presents as hepatomegaly and failure to thrive, with fasting ketotic hypoglycemia, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Most individuals develop cardiac involvement with cardiac hypertrophy and/or cardiomyopathy. Skeletal myopathy manifesting as weakness may be evident in childhood and slowly progresses, typically becoming prominent in the third to fourth decade. The overall prognosis is favorable but cannot be predicted on an individual basis. Long-term complications such as muscular and cardiac symptoms as well as liver fibrosis/cirrhosis and hepatocellular carcinoma may have a severe impact on prognosis and quality of life. To date, it is unknown if long-term complications can be alleviated and/or avoided by dietary interventions.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6641">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_6642"><div><strong>Glycogen storage disease, type IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6642</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.">C0017923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence, including decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6642">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_9618"><div><strong>Kearns-Sayre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9618</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.">C0022541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9618">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_44514"><div><strong>Mucopolysaccharidosis type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44514</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.">C0026709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/44514">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_10988"><div><strong>Pseudo-Hurler polydystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10988</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.">C0033788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10988">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_11161"><div><strong>Phytanic acid storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11161</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.">C0034960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11161">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_43108"><div><strong>Mucopolysaccharidosis type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43108</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.">C0085132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, or in early childhood with developmental delay and characteristic musculoskeletal features (e.g., short neck, short-trunk short stature, pectus deformity, gibbus, and joint stiffness/contractures) and craniofacial features (e.g., macrocephaly, coarse hair, coarse facies, corneal clouding, and macroglossia). Skeletal survey shows features of dysostosis multiplex including thickened cortical bone, abnormal J-shaped sella turcica, paddle- or oar-shaped ribs, short, thickened clavicles, platyspondyly with anterior beaking of the lower thoracic and lumbar vertebrae, and proximal pointing of the metacarpals and metatarsals. Complications include developmental delay, intellectual disability, hepatosplenomegaly, spinal stenosis, recurrent otitis media, hearing loss, pulmonary disease, obstructive sleep apnea, hernias, feeding difficulties, and heart valve disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43108">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39698"><div><strong>Hurler syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39698</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.">C0086795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39698">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_57432"><div><strong>Congenital heart block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57432</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.">C0149530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57432">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_57509"><div><strong>Cyclical vomiting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57509</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.">C0152164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57509">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75694"><div><strong>Propionic acidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75694</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.">C0268579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of propionic acidemia (PA) ranges from neonatal onset to late-onset disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin. Without prompt diagnosis (often through newborn screening) and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress (e.g., illness, surgery, fasting) or may experience a more insidious onset with the development of multiorgan complications including vomiting, protein intolerance, failure to thrive, hypotonia, developmental delays or regression, movement disorders, or cardiomyopathy. Isolated cardiomyopathy can be observed on rare occasions in the absence of clinical metabolic decompensation or neurocognitive deficits. Manifestations of neonatal-onset and late-onset PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, and chronic kidney disease. Other rarely reported complications include optic atrophy, sensorineural hearing loss, and premature ovarian insufficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75694">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83309"><div><strong>Familial ventricular tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83309</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.">C0340485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Idiopathic ventricular tachycardia is a generic term that describes the various forms of ventricular arrhythmias that occur in patients without structural heart disease and in the absence of long QT syndrome (summary by Lerman et al., 1998). Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, familial cardiomyopathy, or one of the long QT syndromes. There are families with ventricular tachycardia in which no recognized underlying condition has been identified. The features of the disorder are variable from family to family (summary by Fisher et al., 1999). See also catecholaminergic polymorphic ventricular tachycardia (CPVT; 604772).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83309">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83338"><div><strong>Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83338</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.">C0342287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83338">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_90979"><div><strong>Diabetes-deafness syndrome maternally transmitted</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90979</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.">C0342289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90979">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_90998"><div><strong>Deficiency of butyryl-CoA dehydrogenase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90998</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.">C0342783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather than a disease. A broad range of clinical findings was originally reported in those with confirmed SCADD, including severe dysmorphic facial features, feeding difficulties / failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy. However, individuals with no symptoms were also reported. In a large series of affected individuals detected on metabolic evaluation for developmental delay, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures; and 30% had hypotonia without seizures. In contrast, the majority of infants with SCADD have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. As with other fatty acid oxidation deficiencies, characteristic biochemical findings of SCADD may be absent except during times of physiologic stress such as fasting and illness. A diagnosis of SCADD based on clinical findings should not preclude additional testing to look for other causes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90998">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_90999"><div><strong>Renal carnitine transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90999</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.">C0342788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. If untreated, it encompasses a broad clinical spectrum including: (1) metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; (2) childhood myopathy involving heart and skeletal muscle with onset between age two and four years; (3) pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; (4) fatigability in adulthood; and (5) absence of symptoms. The latter two categories often include mothers diagnosed with PCD after newborn screening has identified low carnitine levels in their infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90999">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_91000"><div><strong>Carnitine acylcarnitine translocase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91000</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.">C0342791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Carnitine-acylcarnitine translocase (CACT) is a critical component of the carnitine shuttle, which facilitates the transfer of long-chain fatty acylcarnitines across the inner mitochondrial membrane. CACT deficiency causes a defect in mitochondrial long-chain fatty acid ß-oxidation, with variable clinical severity. Severe neonatal-onset disease is most common, with symptoms evident within two days after birth; attenuated cases may present in the first months of life. Hyperammonemia and cardiac arrhythmia are prominent in early-onset disease, with high rates of cardiac arrest. Other clinical features are typical for disorders of long-chain fatty acid oxidation: poor feeding, lethargy, hypoketotic hypoglycemia, hypotonia, transaminitis, liver dysfunction with hepatomegaly, and rhabdomyolysis. Univentricular or biventricular hypertrophic cardiomyopathy, ranging from mild to severe, may respond to appropriate dietary and medical therapies. Hyperammonemia is difficult to treat and is an important determinant of long-term neurocognitive outcome. Affected individuals with early-onset disease typically experience brain injury at presentation, and have recurrent hyperammonemia leading to developmental delay / intellectual disability. Affected individuals with later-onset disease have milder symptoms and are less likely to experience recurrent hyperammonemia, allowing a better developmental outcome. Prompt treatment of the presenting episode to prevent hypoglycemic, hypoxic, or hyperammonemic brain injury may allow normal growth and development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91000">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</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.">C0349653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_140765"><div><strong>McLeod neuroacanthocytosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140765</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.">C0398568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/140765">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_96073"><div><strong>Familial cutaneous collagenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96073</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.">C0406817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162901"><div><strong>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162901</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.">C0796031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162912"><div><strong>Aicardi-Goutieres syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162912</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.">C0796126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</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.">C0796154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163225"><div><strong>Toriello-Carey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163225</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.">C0796184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003). In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_182959"><div><strong>Becker muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182959</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.">C0917713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182959">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_254845"><div><strong>Muscular dystrophy, cardiac type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>254845</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.">C1442927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/254845">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_301243"><div><strong>Finnish type amyloidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301243</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.">C1622345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). Finnish hereditary amyloidosis, also known as Meretoja syndrome or AGel amyloidosis, is one of the most common diseases in the Finnish disease heritage. Symptoms commonly appear by age 40, with the first finding usually corneal lattice dystrophy (CLD), diagnosed by an ophthalmologist. Impaired vision, polyneuropathy, facial nerve paresis, and cutis laxa follow. These symptoms may develop slowly and simultaneously, since amyloid accumulates systemically at a constant rate (summary by Nikoskinen et al., 2015). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301243">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354526"><div><strong>Familial partial lipodystrophy, Dunnigan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354526</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.">C1720860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318592"><div><strong>Congenital generalized lipodystrophy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318592</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.">C1720862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332193"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2K</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332193</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.">C1836373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; impaired intellectual development and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development (type B; see MDDGB1, 613155). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C) Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (613158), caused by mutation in the POMT2 gene (607439); MDDGC3 (613157), caused by mutation in the POMGNT1 gene (606822); MDDGC4 (611588), caused by mutation in the FKTN gene (607440); MDDGC5 (607155), caused by mutation in the FKRP gene (606596); MDDGC7 (616052), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGC8 (618135), caused by mutation in the POMGNT2 gene (614828); MDDGC9 (613818) caused by mutation in the DAG1 gene (128239); MDDGC12 (616094), caused by mutation in the POMK gene (615247); MDDGC14 (615352) caused by mutation in the GMPPB gene (615320); and MDDGC15 (612937), caused by mutation in the DPM3 gene (605951).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332193">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373087"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373087</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.">C1836439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) is associated with more complicated phenotypes than PEO caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324741"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324741</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.">C1837342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333047"><div><strong>Tibial muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333047</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.">C1838244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels after age 30 years. Disease progression is slow and muscle weakness remains confined to the anterior compartment muscles for many years. The long toe extensors become clinically involved after ten to 20 years, leading to foot drop and clumsiness when walking. In the mildest form, UDM-TMD can remain unnoticed even in the elderly. EMG shows profound myopathic changes in the anterior tibial muscle, but preservation of the extensor brevis muscle. Muscle MRI shows selective fatty degeneration of the anterior tibial muscles and other anterior compartment muscles of the lower legs. Serum CK concentration may be normal or slightly elevated. Muscle biopsy shows progressive dystrophic changes in the tibialis anterior muscle with rimmed vacuoles at the early stages and replacement with adipose tissue at later stages of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333047">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335320"><div><strong>Uruguay Faciocardiomusculoskeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335320</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.">C1846010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339747"><div><strong>Cardioneuromyopathy with hyaline masses and nemaline rods</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339747</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.">C1847387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339747">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337919"><div><strong>Lethal congenital glycogen storage disease of heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337919</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.">C1849813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337919">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339913"><div><strong>Neutral lipid storage myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339913</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.">C1853136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neutral lipid storage disease with myopathy (NLSDM) is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011). Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340044"><div><strong>Hemochromatosis type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340044</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.">C1853733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340044">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_344290"><div><strong>Noonan syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344290</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.">C1854469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344290">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344424"><div><strong>Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344424</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.">C1855114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344424">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</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.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/340962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341665"><div><strong>Endocardial fibroelastosis and coarctation of abdominal aorta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341665</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.">C1856971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341665">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388114"><div><strong>Hemochromatosis type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388114</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.">C1858664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TFR2-related hemochromatosis (TFR2-HC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. Age of onset is earlier than in HFE-related hemochromatosis. The majority of individuals present with signs and symptoms of iron overload in the third decade (e.g., weakness, fatigue, abdominal pain, hepatomegaly, arthritis, arthralgia, and progressive increase in skin pigmentation). Others present as young adults with nonspecific symptoms and abnormal serum iron studies or as adults with abnormal serum iron studies and signs of organ involvement including cirrhosis, diabetes mellitus, arthropathy, hypogonadism, cardiomyopathy, and increase in skin pigmentation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395234"><div><strong>Cardiac lipidosis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395234</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.">C1859332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395312"><div><strong>Ataxia, deafness, and cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395312</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.">C1859645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400593"><div><strong>Giant axonal neuropathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400593</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.">C1864695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400593">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356321"><div><strong>Hemochromatosis type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356321</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.">C1865614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356040"><div><strong>Hemochromatosis type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356040</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.">C1865616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_409741"><div><strong>Glycogen storage disease due to muscle and heart glycogen synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409741</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.">C1969054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.\n\nThe signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.\n\nGlycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440765"><div><strong>Peroxisome biogenesis disorder 9B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440765</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.">C2749346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440765">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414031"><div><strong>Amyloidosis, hereditary systemic 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414031</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.">C2751492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy. Amyloidosis can involve the heart, central nervous system (CNS), eyes, and kidneys. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesia and hypesthesia of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive restrictive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage. Ocular involvement includes vitreous opacity, glaucoma, dry eye, and ocular amyloid angiopathy. Mild-to-severe kidney disease can develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414111"><div><strong>Emery-Dreifuss muscular dystrophy 5, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414111</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.">C2751805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419308"><div><strong>ALG1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419308</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.">C2931005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). CDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419308">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_419514"><div><strong>Hermansky-Pudlak syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419514</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.">C2931875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_424706"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424706</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.">C2936332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/424706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462259"><div><strong>D-2-hydroxyglutaric aciduria 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462259</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.">C3150909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nCombined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462259">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_462408"><div><strong>Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462408</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.">C3151058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive severe neurometabolic disorder affecting the muscles, liver, and nervous system, resulting in death in infancy (summary by Bas et al., 2020). Other causes of hypermethioninemia include hereditary tyrosinemia (276700), cystathionine beta-synthase deficiency (236200), and methionine adenosyltransferase deficiency (250850).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462408">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463405"><div><strong>D-2-hydroxyglutaric aciduria 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463405</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.">C3152055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. Genetic Heterogeneity of D-2-Hydroxyglutaric Aciduria D-2-hydroxyglutaric aciduria-2 (D2HGA2; 613657) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2; 147650) on chromosome 15q26.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/463405">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481352"><div><strong>Distal myopathy with posterior leg and anterior hand involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481352</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.">C3279722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481352">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</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.">C3469186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767448"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767448</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.">C3554534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Kennaway et al., 1990 and Oquendo et al., 2004). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767448">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_778253"><div><strong>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>778253</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.">C3711645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/778253">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811509"><div><strong>Myofibrillar myopathy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811509</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.">C3714934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811509">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815981"><div><strong>Infantile liver failure syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815981</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.">C3809651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile liver failure syndrome-2 (ILFS2) is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015). For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815981">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816731"><div><strong>Atrial standstill 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816731</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.">C3810401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005). For a discussion of genetic heterogeneity of atrial standstill, see ATRST1 (108770).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816731">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863042"><div><strong>Polyglucosan body myopathy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863042</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.">C4014605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body Myopathy See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863609"><div><strong>Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863609</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.">C4015172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863609">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897191"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897191</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.">C4225153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896011"><div><strong>Spinal muscular atrophy with congenital bone fractures 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896011</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.">C4225177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904159"><div><strong>Developmental and epileptic encephalopathy, 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904159</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.">C4225256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-35 (DEE35) is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015) For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904159">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894399"><div><strong>Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894399</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.">C4225285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism (KFS4) is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924303"><div><strong>Sialidosis type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924303</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.">C4282398</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924303">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934789"><div><strong>Myopathy with abnormal lipid metabolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934789</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.">C4310822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1384302"><div><strong>MYPN-related myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1384302</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.">C4479186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-24 (CMYO24) is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017). For a discussion of genetic heterogeneity of congenital myopathy, see 117000. For a discussion of genetic heterogeneity of nemaline myopathy, see 256030.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1384302">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1377325"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2T</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1377325</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.">C4518000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1377325">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1618709"><div><strong>Somatotroph adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1618709</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.">C4538355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">AIP familial isolated pituitary adenoma (AIP-FIPA) is characterized by an increased risk of pituitary neuroendocrine tumors (PitNETs, also known as pituitary adenomas), including growth hormone (GH)-secreting PitNETs (somatotropinomas), prolactin-secreting PitNETs (prolactinomas), GH and prolactin cosecreting PitNETs (somatomammotropinomas), and clinically nonfunctioning PitNETs (NF-PitNETs). Rarely, thyroid-stimulating hormone (TSH)-secreting PitNETs (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, PitNETs can be of the same or different type. Age of diagnosis in AIP-FIPA is usually in the second or third decade.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1618709">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1619876"><div><strong>Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619876</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.">C4540192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The current (but limited) understanding of the WARS2 deficiency phenotypic spectrum, based on 29 individuals from 24 families reported to date, can be viewed as a clustering of hallmark features within the broad phenotypes of epilepsy and movement disorder. The epilepsy spectrum encompasses neonatal- or infantile-onset developmental and epileptic encephalopathy (DEE) and other less well described seizure types. DEE manifests mostly in the neonatal period or within the first year of life. Seizures are generally difficult to control and may lead to status epilepticus and death. Over time the following become evident: global developmental delay, mild-to-severe intellectual disability, speech impairment (slurred and slow speech, dysarthria or no speech production but preserved receptive speech), weakness and muscle atrophy, motor hyperactivity with athetosis, and neuropsychiatric manifestations including aggressiveness and sleep disorders. The movement disorder spectrum encompasses the overlapping phenotypes of levodopa-responsive parkinsonism/dystonia and progressive myoclonus-ataxia/hyperkinetic movement disorder and is primarily associated with childhood or early adulthood onset. Of note, the continua within and between the epilepsy spectrum and the movement disorder spectrum remain to be determined pending reporting of more individuals with WARS2 deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1619876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1623699"><div><strong>Combined oxidative phosphorylation deficiency 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1623699</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.">C4540209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1623699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635231"><div><strong>Familial amyloid polyneuropathy, Iowa type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635231</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.">C4551500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641635"><div><strong>Wolfram syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641635</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.">C4551693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641635">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639277"><div><strong>Zimmermann-Laband syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639277</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.">C4551773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). Genetic Heterogeneity of Zimmermann-Laband Syndrome ZLS2 (616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21. ZLS3 (618658) is caused by mutation in the KCNN3 gene (602983) on chromosome 1q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648314"><div><strong>Myofibrillar myopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648314</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.">C4721886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682397"><div><strong>Combined oxidative phosphorylation defect type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682397</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.">C5190991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682397">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684253"><div><strong>Developmental and epileptic encephalopathy, 75</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684253</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.">C5193099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by Yin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684253">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1709379"><div><strong>Combined oxidative phosphorylation deficiency 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1709379</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.">C5394237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory insufficiency, lactic metabolic acidosis, and anemia in the first months of life. Patient tissue shows variable impairment of mitochondrial oxidative phosphorylation affecting mtDNA-encoded subunits I, III, and IV. All reported affected infants have died in the first year of life (summary by Friederich et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1709379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1745427"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745427</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.">C5436576</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1745427">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1764816"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1764816</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.">C5436682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by Valnot et al., 2000 and Antonicka et al., 2003). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1764816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1774807"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1774807</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.">C5436962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; intellectual disability mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B) Congenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); MDDGB14 (615351), caused by mutation in the GMPPB gene (615320); and MDDGB15 (618992), caused by mutation in the DPM3 gene (605951).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1774807">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778114"><div><strong>Martsolf syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778114</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.">C5542298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778114">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1779901"><div><strong>Neurodegeneration with ataxia and late-onset optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779901</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.">C5543254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) is an autosomal dominant disorder with somewhat variable manifestations. Most affected individuals present in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some patients may have a childhood history of neurologic features, including limited extraocular movements. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment (summary by Taylor et al., 1996 and Courage et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794212"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794212</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.">C5562002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-27 (LGMDR27) is characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. The age at onset is highly variable, from infancy to young adulthood. Patients with infantile onset may have a more severe disease course with rapid progression. Upper limb involvement and distal muscle weakness may also occur. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Less common features include impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows nonspecific dystrophic changes (Coppens et al., 2021). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794246"><div><strong>Dyskinesia with orofacial involvement, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794246</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.">C5562036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive dyskinesia with orofacial involvement (DSKOR) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder (summary by Bohlega et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794248"><div><strong>Neurodevelopmental disorder with hyperkinetic movements and dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794248</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.">C5562038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders (summary by Okamoto et al., 2021 and Kaiyrzhanov et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794248">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808663"><div><strong>Myopathy, distal, 7, adult-onset, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808663</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.">C5676880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by Johari et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1808663">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824013"><div><strong>Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824013</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.">C5774240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM) is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. The severity is highly variable. The disorder is progressive; about half of patients show developmental regression with loss of previous skills. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have nonspecific abnormalities on brain imaging. Death in childhood may occur (Kaiyrzhanov et al., 2022).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824013">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861320"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861320</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.">C5935611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-29 (LGMDR29) is a neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. The disorder, which causes walking difficulties, is progressive and may result in loss of ambulation. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. Muscle biopsy shows dystrophic and myofibrillar changes, and serum creatine kinase is increased. Rare individuals have been reported to have central nervous system involvement, including cataracts, developmental delay, and brain imaging abnormalities (Nashabat et al., 2024 and Iruzubieta et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861320">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1861383"><div><strong>Ehlers-Danlos syndrome, classic-like, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861383</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.">C5935631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-3 (EDSCLL3) is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture (Hadar et al., 2024). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classificiation of Ehlers-Danlos syndrome, see EDSCL1 (130000).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861383">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG1-congenital disorder of glycosylation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis, hereditary systemic 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia, deafness, and cardiomyopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial standstill 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (100)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2J</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1377325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2T</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_182959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Becker muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beckwith-Wiedemann syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac lipidosis, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioneuromyopathy with hyaline masses and nemaline rods</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine acylcarnitine translocase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682397" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1623699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1709379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart block</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyclical vomiting syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">D-2-hydroxyglutaric aciduria 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">D-2-hydroxyglutaric aciduria 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of butyryl-CoA dehydrogenase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 35</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 75</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes-deafness syndrome maternally transmitted</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal myopathy with posterior leg and anterior hand involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duchenne muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia with orofacial involvement, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 5, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endocardial fibroelastosis and coarctation of abdominal aorta</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial amyloid polyneuropathy, Iowa type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cutaneous collagenoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Dunnigan type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial ventricular tachycardia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301243" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finnish type amyloidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant axonal neuropathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to muscle and heart glycogen synthase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type IV</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hurler syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile liver failure syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kearns-Sayre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital glycogen storage disease of heart</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_778253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martsolf syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McLeod neuroacanthocytosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1745427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 35</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1764816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_43108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis type 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_254845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, cardiac type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1774807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with abnormal lipid metabolism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, distal, 7, adult-onset, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1384302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MYPN-related myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with ataxia and late-onset optic atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hyperkinetic movements and dyskinesia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1619876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutral lipid storage myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 9B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phytanic acid storage disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglucosan body myopathy type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Propionic acidemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-Hurler polydystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal carnitine transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sialidosis type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1618709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Somatotroph adenoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tibial muscular dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toriello-Carey syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uruguay Faciocardiomusculoskeletal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zimmermann-Laband syndrome 1</a></div></span></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/35379503">2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heidenreich PA,
|
||
Bozkurt B,
|
||
Aguilar D,
|
||
Allen LA,
|
||
Byun JJ,
|
||
Colvin MM,
|
||
Deswal A,
|
||
Drazner MH,
|
||
Dunlay SM,
|
||
Evers LR,
|
||
Fang JC,
|
||
Fedson SE,
|
||
Fonarow GC,
|
||
Hayek SS,
|
||
Hernandez AF,
|
||
Khazanie P,
|
||
Kittleson MM,
|
||
Lee CS,
|
||
Link MS,
|
||
Milano CA,
|
||
Nnacheta LC,
|
||
Sandhu AT,
|
||
Stevenson LW,
|
||
Vardeny O,
|
||
Vest AR,
|
||
Yancy CW</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2022 May 3;79(17):e263-e421.
|
||
Epub 2022 Apr 1
|
||
doi: 10.1016/j.jacc.2021.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35379503" target="_blank">35379503</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35363499">2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heidenreich PA,
|
||
Bozkurt B,
|
||
Aguilar D,
|
||
Allen LA,
|
||
Byun JJ,
|
||
Colvin MM,
|
||
Deswal A,
|
||
Drazner MH,
|
||
Dunlay SM,
|
||
Evers LR,
|
||
Fang JC,
|
||
Fedson SE,
|
||
Fonarow GC,
|
||
Hayek SS,
|
||
Hernandez AF,
|
||
Khazanie P,
|
||
Kittleson MM,
|
||
Lee CS,
|
||
Link MS,
|
||
Milano CA,
|
||
Nnacheta LC,
|
||
Sandhu AT,
|
||
Stevenson LW,
|
||
Vardeny O,
|
||
Vest AR,
|
||
Yancy CW;
|
||
ACC/AHA Joint Committee Members</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2022 May 3;145(18):e895-e1032.
|
||
Epub 2022 Apr 1
|
||
doi: 10.1161/CIR.0000000000001063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35363499" target="_blank">35363499</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30110588">Clinical Course and Management of Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2018 Aug 16;379(7):655-668.
|
||
doi: 10.1056/NEJMra1710575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30110588" target="_blank">30110588</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cardiomyopathy%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 (3034)</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/35086660">Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ,
|
||
Desai MY,
|
||
Nishimura RA,
|
||
Spirito P,
|
||
Rakowski H,
|
||
Towbin JA,
|
||
Rowin EJ,
|
||
Maron MS,
|
||
Sherrid MV</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2022 Feb 1;79(4):372-389.
|
||
doi: 10.1016/j.jacc.2021.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086660" target="_blank">35086660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30449379">Stress-Induced Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang L,
|
||
Piña IL</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2019 Jan;15(1):41-53.
|
||
doi: 10.1016/j.hfc.2018.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30449379" target="_blank">30449379</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30110588">Clinical Course and Management of Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2018 Aug 16;379(7):655-668.
|
||
doi: 10.1056/NEJMra1710575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30110588" target="_blank">30110588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28824005">Acute stress-induced (takotsubo) cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dawson DK</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2018 Jan;104(2):96-102.
|
||
Epub 2017 Aug 20
|
||
doi: 10.1136/heartjnl-2017-311579.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28824005" target="_blank">28824005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29431384">Cardiomyopathy: An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brieler J,
|
||
Breeden MA,
|
||
Tucker J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Nov 15;96(10):640-646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29431384" target="_blank">29431384</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%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 (28109)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37716772">Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heymans S,
|
||
Lakdawala NK,
|
||
Tschöpe C,
|
||
Klingel K</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Sep 16;402(10406):998-1011.
|
||
doi: 10.1016/S0140-6736(23)01241-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37716772" target="_blank">37716772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36382968">Circulating Biomarkers in Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthia EL,
|
||
Setteducato ML,
|
||
Elzeneini M,
|
||
Vernace N,
|
||
Salerno M,
|
||
Kramer CM,
|
||
Keeley EC</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2022 Dec 6;11(23):e027618.
|
||
Epub 2022 Nov 16
|
||
doi: 10.1161/JAHA.122.027618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36382968" target="_blank">36382968</a><a href="/pmc/articles/PMC9851432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35086660">Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ,
|
||
Desai MY,
|
||
Nishimura RA,
|
||
Spirito P,
|
||
Rakowski H,
|
||
Towbin JA,
|
||
Rowin EJ,
|
||
Maron MS,
|
||
Sherrid MV</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2022 Feb 1;79(4):372-389.
|
||
doi: 10.1016/j.jacc.2021.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086660" target="_blank">35086660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32341693">Takotsubo Cardiomyopathy: A Brief Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin HZ,
|
||
Amin LZ,
|
||
Pradipta A</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2020 Jan-Mar;13(1):3-7.
|
||
doi: 10.25122/jml-2018-0067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32341693" target="_blank">32341693</a><a href="/pmc/articles/PMC7175432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29431384">Cardiomyopathy: An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brieler J,
|
||
Breeden MA,
|
||
Tucker J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Nov 15;96(10):640-646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29431384" target="_blank">29431384</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%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 (28594)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183512">Interpreting the Kansas City Cardiomyopathy Questionnaire in Clinical Trials and Clinical Care: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spertus JA,
|
||
Jones PG,
|
||
Sandhu AT,
|
||
Arnold SV</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Nov 17;76(20):2379-2390.
|
||
doi: 10.1016/j.jacc.2020.09.542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33183512" target="_blank">33183512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32943426">New trends in cellular therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okano H,
|
||
Sipp D</span><br />
|
||
<span class="medgenPMjournal">Development</span>
|
||
2020 Sep 17;147(18)
|
||
doi: 10.1242/dev.192567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32943426" target="_blank">32943426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28887011">Cell therapies for Chagas disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho AB,
|
||
Goldenberg RCDS,
|
||
Campos de Carvalho AC</span><br />
|
||
<span class="medgenPMjournal">Cytotherapy</span>
|
||
2017 Nov;19(11):1339-1349.
|
||
Epub 2017 Sep 5
|
||
doi: 10.1016/j.jcyt.2017.07.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28887011" target="_blank">28887011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28154101">Cardioembolic Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamel H,
|
||
Healey JS</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2017 Feb 3;120(3):514-526.
|
||
doi: 10.1161/CIRCRESAHA.116.308407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28154101" target="_blank">28154101</a><a href="/pmc/articles/PMC5312810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8049591">Dilated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siu SC,
|
||
Sole MJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
1994 May;9(3):337-43.
|
||
doi: 10.1097/00001573-199405000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8049591" target="_blank">8049591</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%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 (16585)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31587793">Cardiovascular Toxicities in Pediatric Cancer Survivors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan TD,
|
||
Nagarajan R,
|
||
Godown J</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2019 Nov;37(4):533-544.
|
||
doi: 10.1016/j.ccl.2019.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31587793" target="_blank">31587793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30482684">Sudden Death Risk-Stratification in 2018-2019: The Old and the New.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaman S,
|
||
Goldberger JJ,
|
||
Kovoor P</span><br />
|
||
<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2019 Jan;28(1):57-64.
|
||
Epub 2018 Sep 25
|
||
doi: 10.1016/j.hlc.2018.08.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30482684" target="_blank">30482684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27521551">Apical hypertrophic cardiomyopathy: Present status.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jan MF,
|
||
Todaro MC,
|
||
Oreto L,
|
||
Tajik AJ</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2016 Nov 1;222:745-759.
|
||
Epub 2016 Jul 28
|
||
doi: 10.1016/j.ijcard.2016.07.154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27521551" target="_blank">27521551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26907576">The Safety of Exercise in Individuals With Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finocchiaro G,
|
||
Sharma S</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2016 Apr;32(4):467-74.
|
||
Epub 2015 Dec 15
|
||
doi: 10.1016/j.cjca.2015.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26907576" target="_blank">26907576</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24054477">Impact of atrial fibrillation on outcomes in heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DePasquale EC,
|
||
Fonarow GC</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2013 Oct;9(4):437-49, viii.
|
||
doi: 10.1016/j.hfc.2013.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24054477" target="_blank">24054477</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%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 (20695)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39181403">Society for Cardiovascular Magnetic Resonance 2023 Cases of SCMR case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JN,
|
||
Hoke C,
|
||
Chamis AL,
|
||
Campbell MJ,
|
||
Gearhart A,
|
||
de Ferranti SD,
|
||
Beroukhim R,
|
||
Mozumdar N,
|
||
Cartoski M,
|
||
Nees S,
|
||
Hudson J,
|
||
Kakhi S,
|
||
Daryani Y,
|
||
Pasan Botheju WS,
|
||
Shah KB,
|
||
Makkiya M,
|
||
Dimza M,
|
||
Moguillansky D,
|
||
Al-Ani M,
|
||
Andreae A,
|
||
Kim H,
|
||
Ahamed H,
|
||
Kannan R,
|
||
Joji CA,
|
||
Baritussio A,
|
||
Dendy JM,
|
||
Bhagirath P,
|
||
Ganigara M,
|
||
Hulten E,
|
||
Tunks R,
|
||
Kozor R,
|
||
Chen SSM</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
|
||
2024 Winter;26(2):101086.
|
||
Epub 2024 Aug 22
|
||
doi: 10.1016/j.jocmr.2024.101086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39181403" target="_blank">39181403</a><a href="/pmc/articles/PMC11612776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38211509">Society for Cardiovascular Magnetic Resonance 2022 Cases of SCMR case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JN,
|
||
Pouraliakbar H,
|
||
Mahdavi M,
|
||
Ranjbar A,
|
||
Pfirman K,
|
||
Mehra V,
|
||
Ahmed S,
|
||
Ba-Atiyah W,
|
||
Galal MO,
|
||
Zahr RA,
|
||
Hussain N,
|
||
Tadikamalla RR,
|
||
Farah V,
|
||
Dzelebdzic S,
|
||
Muniz JC,
|
||
Lee M,
|
||
Williams J,
|
||
Lee S,
|
||
Aggarwal SK,
|
||
Clark DE,
|
||
Hughes SG,
|
||
Ganigara M,
|
||
Nagiub M,
|
||
Hussain T,
|
||
Kwok C,
|
||
Lim HS,
|
||
Nolan M,
|
||
Kikuchi DS,
|
||
Goulbourne CA,
|
||
Sahu A,
|
||
Sievers B,
|
||
Sievers B,
|
||
Sievers B,
|
||
Garg R,
|
||
Armas CR,
|
||
Paleru V,
|
||
Agarwal R,
|
||
Rajagopal R,
|
||
Bhagirath P,
|
||
Kozor R,
|
||
Aneja A,
|
||
Tunks R,
|
||
Chen SSM</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
|
||
2024 Summer;26(1):100007.
|
||
Epub 2023 Dec 23
|
||
doi: 10.1016/j.jocmr.2023.100007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38211509" target="_blank">38211509</a><a href="/pmc/articles/PMC11211240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37389511">Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arana-Achaga X,
|
||
Goena-Vives C,
|
||
Villanueva-Benito I,
|
||
Solla-Ruiz I,
|
||
Rengel Jimenez A,
|
||
Gaspar TI,
|
||
Urreta-Barallobre I,
|
||
Barge-Caballero G,
|
||
Seijas-Marcos S,
|
||
Cabrera E,
|
||
Garcia-Pavía P,
|
||
Basurte Elorz MT,
|
||
Ayestarán NM,
|
||
Sierra LT,
|
||
Robledo Iñarritu M,
|
||
Lozano-Bahamonde A,
|
||
Escolar-Perez V,
|
||
Gómez-Ramírez C,
|
||
Alzola E,
|
||
Andrés RN,
|
||
Francisco Matias JL,
|
||
Limeres Freire J,
|
||
Armengou Arxe A,
|
||
Negre Busó M,
|
||
Piqueras-Flores J,
|
||
Martínez-Del Río J,
|
||
Onaindia Gandarias JJ,
|
||
Rodriguez Sanchez I,
|
||
Querejeta Iraola R</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
|
||
2023 Dec;16(12):1567-1580.
|
||
Epub 2023 Jun 28
|
||
doi: 10.1016/j.jcmg.2023.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37389511" target="_blank">37389511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33686516">Cardiovascular Magnetic Resonance Imaging and Heart Failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
|
||
Ferrari VA,
|
||
Han Y</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2021 Mar 8;23(4):35.
|
||
doi: 10.1007/s11886-021-01464-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33686516" target="_blank">33686516</a><a href="/pmc/articles/PMC7939452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22865865">Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phelan D,
|
||
Collier P,
|
||
Thavendiranathan P,
|
||
Popović ZB,
|
||
Hanna M,
|
||
Plana JC,
|
||
Marwick TH,
|
||
Thomas JD</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2012 Oct;98(19):1442-8.
|
||
Epub 2012 Aug 3
|
||
doi: 10.1136/heartjnl-2012-302353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22865865" target="_blank">22865865</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%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 (18368)</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/36356656">Pacing-induced cardiomyopathy: A systematic review and meta-analysis of definition, prevalence, risk factors, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Somma V,
|
||
Ha FJ,
|
||
Palmer S,
|
||
Mohamed U,
|
||
Agarwal S</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2023 Feb;20(2):282-290.
|
||
Epub 2022 Nov 7
|
||
doi: 10.1016/j.hrthm.2022.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36356656" target="_blank">36356656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35086661">Management of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ,
|
||
Desai MY,
|
||
Nishimura RA,
|
||
Spirito P,
|
||
Rakowski H,
|
||
Towbin JA,
|
||
Dearani JA,
|
||
Rowin EJ,
|
||
Maron MS,
|
||
Sherrid MV</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2022 Feb 1;79(4):390-414.
|
||
doi: 10.1016/j.jacc.2021.11.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086661" target="_blank">35086661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35086660">Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ,
|
||
Desai MY,
|
||
Nishimura RA,
|
||
Spirito P,
|
||
Rakowski H,
|
||
Towbin JA,
|
||
Rowin EJ,
|
||
Maron MS,
|
||
Sherrid MV</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2022 Feb 1;79(4):372-389.
|
||
doi: 10.1016/j.jacc.2021.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086660" target="_blank">35086660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067911">Risk factors for clozapine-induced myocarditis and cardiomyopathy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vickers M,
|
||
Ramineni V,
|
||
Malacova E,
|
||
Eriksson L,
|
||
McMahon K,
|
||
Moudgil V,
|
||
Scott J,
|
||
Siskind D</span><br />
|
||
<span class="medgenPMjournal">Acta Psychiatr Scand</span>
|
||
2022 May;145(5):442-455.
|
||
Epub 2022 Feb 4
|
||
doi: 10.1111/acps.13398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067911" target="_blank">35067911</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11886323">Hypertrophic cardiomyopathy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2002 Mar 13;287(10):1308-20.
|
||
doi: 10.1001/jama.287.10.1308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11886323" target="_blank">11886323</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%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 (770)</a></div></div>
|
||
</div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<!-- MedGen supplemental column starts here -->
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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_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=C0878544%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (47)</a></li>
|
||
<li><a href="/gtr/tests?term=C0878544%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0878544%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0878544%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0878544%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (57)</a></li>
|
||
<li><a href="/gtr/tests?term=C0878544%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0878544%5bDISCUI%5d" target="_blank">See all (58)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=167848" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cardiomyopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cardiomyopathy%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Cardiomyopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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