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<!--
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UID=116727
|
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ConceptID=C0243050
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the cardiovascular system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116727</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.">C0243050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormalities, Cardiovascular; Abnormality, Cardiovascular; Cardiovascular Abnormalities; Cardiovascular Abnormality</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:0001626">HP:0001626</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Any abnormality of the cardiovascular system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0243050[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=116727">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=116727" ref="ncbi_uid=116727">V</a></span></span><span class="TLline">Abnormality of the cardiovascular system</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/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="matched_ds">Abnormality of the cardiovascular system</span><ul><li><span class="TLline"><a href="/medgen/1384257" ref="tree=MeSH" title="MedGen record for Abnormal cardiac test">Abnormal cardiac test</a></span><ul><li><span class="TLline"><a href="/medgen/1379094" ref="tree=MeSH" title="MedGen record for Abnormal cardiac biomarker test">Abnormal cardiac biomarker test</a></span><ul><li><span class="TLline"><a href="/medgen/1636885" ref="tree=MeSH" title="MedGen record for Increased circulating troponin I concentration">Increased circulating troponin I concentration</a></span></li><li><span class="TLline"><a href="/medgen/1634809" ref="tree=MeSH" title="MedGen record for Increased circulating troponin T concentration">Increased circulating troponin T concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1371237" ref="tree=MeSH" title="MedGen record for Abnormal cardiac catheterization">Abnormal cardiac catheterization</a></span></li><li><span class="TLline"><a href="/medgen/1382540" ref="tree=MeSH" title="MedGen record for Abnormal cardiac exercise stress test">Abnormal cardiac exercise stress test</a></span></li><li><span class="TLline"><a href="/medgen/1377053" ref="tree=MeSH" title="MedGen record for Abnormal cardiac MRI">Abnormal cardiac MRI</a></span></li><li><span class="TLline"><a href="/medgen/1372860" ref="tree=MeSH" title="MedGen record for Abnormal resting energy expenditure from metabolic cart test">Abnormal resting energy expenditure from metabolic cart test</a></span></li></ul></li><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/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span></li><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/870897" ref="tree=MeSH" title="MedGen record for Abnormal anatomic location of the heart">Abnormal anatomic location of the heart</a></span></li><li><span class="TLline"><a href="/medgen/1709890" ref="tree=MeSH" title="MedGen record for Abnormal bulbus cordis morphology">Abnormal bulbus cordis morphology</a></span></li><li><span class="TLline"><a href="/medgen/870789" ref="tree=MeSH" title="MedGen record for Abnormal cardiac atrium morphology">Abnormal cardiac atrium morphology</a></span></li><li><span class="TLline"><a href="/medgen/1778223" ref="tree=MeSH" title="MedGen record for Abnormal cardiac magnetic resonance imaging finding">Abnormal cardiac magnetic resonance imaging finding</a></span></li><li><span class="TLline"><a href="/medgen/1830392" ref="tree=MeSH" title="MedGen record for Abnormal cardiac septum morphology">Abnormal cardiac septum morphology</a></span></li><li><span class="TLline"><a href="/medgen/871266" ref="tree=MeSH" title="MedGen record for Abnormal cardiac ventricle morphology">Abnormal cardiac ventricle morphology</a></span></li><li><span class="TLline"><a href="/medgen/868895" ref="tree=MeSH" title="MedGen record for Abnormal connection of the cardiac segments">Abnormal connection of the cardiac segments</a></span></li><li><span class="TLline"><a href="/medgen/867299" ref="tree=MeSH" title="MedGen record for Abnormal endocardium morphology">Abnormal endocardium morphology</a></span></li><li><span class="TLline"><a href="/medgen/892837" ref="tree=MeSH" title="MedGen record for Abnormal heart valve morphology">Abnormal heart valve morphology</a></span></li><li><span class="TLline"><a href="/medgen/871271" ref="tree=MeSH" title="MedGen record for Abnormal myocardium morphology">Abnormal myocardium morphology</a></span></li><li><span class="TLline"><a href="/medgen/871268" ref="tree=MeSH" title="MedGen record for Abnormal pericardium morphology">Abnormal pericardium morphology</a></span></li><li><span class="TLline"><a href="/medgen/868902" ref="tree=MeSH" title="MedGen record for Abnormal spatial orientation of the cardiac segments">Abnormal spatial orientation of the cardiac segments</a></span></li><li><span class="TLline"><a href="/medgen/868852" ref="tree=MeSH" title="MedGen record for Aorto-ventricular tunnel">Aorto-ventricular tunnel</a></span></li><li><span class="TLline"><a href="/medgen/87618" 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aorta">Coarctation of aorta</a></span></li><li><span class="TLline"><a href="/medgen/868006" ref="tree=MeSH" title="MedGen record for Congenital malformation of the left heart">Congenital malformation of the left heart</a></span></li><li><span class="TLline"><a href="/medgen/868809" ref="tree=MeSH" title="MedGen record for Congenital malformation of the right heart">Congenital malformation of the right heart</a></span></li><li><span class="TLline"><a href="/medgen/3627" ref="tree=MeSH" title="MedGen record for Coronary Vessel Anomalies">Coronary Vessel Anomalies</a></span></li><li><span class="TLline"><a href="/medgen/8181" ref="tree=MeSH" title="MedGen record for Criss-cross heart">Criss-cross heart</a></span></li><li><span class="TLline"><a href="/medgen/4255" ref="tree=MeSH" title="MedGen record for Dextrocardia">Dextrocardia</a></span></li><li><span class="TLline"><a href="/medgen/4435" ref="tree=MeSH" title="MedGen record for Ebstein anomaly">Ebstein anomaly</a></span></li><li><span class="TLline"><a href="/medgen/41703" ref="tree=MeSH" title="MedGen record for Ectopia cordis">Ectopia cordis</a></span></li><li><span class="TLline"><a href="/medgen/4479" ref="tree=MeSH" title="MedGen record for Eisenmenger syndrome">Eisenmenger syndrome</a></span></li><li><span class="TLline"><a href="/medgen/52848" ref="tree=MeSH" title="MedGen record for Fallot trilogy">Fallot trilogy</a></span></li><li><span class="TLline"><a href="/medgen/6752" ref="tree=MeSH" title="MedGen record for Heart septal defect">Heart septal defect</a></span></li><li><span class="TLline"><a href="/medgen/462875" ref="tree=MeSH" title="MedGen record for Hypoplastic heart">Hypoplastic heart</a></span></li><li><span class="TLline"><a href="/medgen/57746" ref="tree=MeSH" title="MedGen record for Hypoplastic left heart syndrome">Hypoplastic left heart syndrome</a></span></li><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><li><span class="TLline"><a href="/medgen/44193" ref="tree=MeSH" title="MedGen record for Long QT syndrome">Long QT syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span></li><li><span class="TLline"><a href="/medgen/4415" ref="tree=MeSH" title="MedGen record for Patent ductus arteriosus">Patent ductus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/576685" ref="tree=MeSH" title="MedGen record for Quadricuspid aortic valve">Quadricuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/56289" ref="tree=MeSH" title="MedGen record for Single ventricle">Single ventricle</a></span></li><li><span class="TLline"><a href="/medgen/7331" ref="tree=MeSH" title="MedGen record for Situs inversus with levocardia">Situs inversus with levocardia</a></span></li><li><span class="TLline"><a href="/medgen/21498" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot">Tetralogy of Fallot</a></span></li><li><span class="TLline"><a href="/medgen/21245" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries">Transposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/3238" ref="tree=MeSH" title="MedGen record for Triatrial heart">Triatrial heart</a></span></li><li><span class="TLline"><a href="/medgen/67034" ref="tree=MeSH" title="MedGen record for Tricuspid atresia">Tricuspid atresia</a></span></li><li><span class="TLline"><a href="/medgen/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/12162" ref="tree=MeSH" title="MedGen record for Wolff-Parkinson-White pattern">Wolff-Parkinson-White pattern</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span></li><li><span class="TLline"><a href="/medgen/867613" ref="tree=MeSH" title="MedGen record for Abnormal cerebral vascular morphology">Abnormal cerebral vascular morphology</a></span></li><li><span class="TLline"><a href="/medgen/870899" ref="tree=MeSH" title="MedGen record for Abnormal gastrointestinal vascular morphology">Abnormal gastrointestinal vascular morphology</a></span></li><li><span class="TLline"><a href="/medgen/892534" ref="tree=MeSH" title="MedGen record for Abnormal head blood vessel morphology">Abnormal head blood vessel morphology</a></span></li><li><span class="TLline"><a href="/medgen/892523" ref="tree=MeSH" title="MedGen record for Abnormal infraorbital artery morphology">Abnormal infraorbital artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/348472" ref="tree=MeSH" title="MedGen record for Vascular granular osmiophilic material deposition">Vascular granular osmiophilic material deposition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868723" ref="tree=MeSH" title="MedGen record for Cardiovascular calcification">Cardiovascular calcification</a></span><ul><li><span class="TLline"><a href="/medgen/383924" ref="tree=MeSH" title="MedGen record for Cardiac valve calcification">Cardiac valve calcification</a></span></li><li><span class="TLline"><a href="/medgen/202115" ref="tree=MeSH" title="MedGen record for Myocardial calcification">Myocardial calcification</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/869166" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system physiology">Abnormal cardiovascular system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1381915" ref="tree=MeSH" title="MedGen record for Abnormal cardiac atrial physiology">Abnormal cardiac atrial physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1614970" ref="tree=MeSH" title="MedGen record for Elevated left atrial pressure">Elevated left atrial pressure</a></span></li><li><span class="TLline"><a href="/medgen/357982" ref="tree=MeSH" title="MedGen record for Elevated right atrial pressure">Elevated right atrial pressure</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/906971" ref="tree=MeSH" title="MedGen record for Abnormal cardiac ventricular function">Abnormal cardiac ventricular function</a></span><ul><li><span class="TLline"><a href="/medgen/69237" ref="tree=MeSH" title="MedGen record for Abnormal left ventricular function">Abnormal left ventricular function</a></span></li><li><span class="TLline"><a href="/medgen/1769077" ref="tree=MeSH" title="MedGen record for Abnormal right ventricular function">Abnormal right ventricular function</a></span></li><li><span class="TLline"><a href="/medgen/870557" ref="tree=MeSH" title="MedGen record for Abnormal ventricular filling">Abnormal ventricular filling</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/661304" ref="tree=MeSH" title="MedGen record for Abnormal heart sound">Abnormal heart sound</a></span><ul><li><span class="TLline"><a href="/medgen/1644817" ref="tree=MeSH" title="MedGen record for Abnormal second heart sound">Abnormal second heart sound</a></span></li><li><span class="TLline"><a href="/medgen/548528" ref="tree=MeSH" title="MedGen record for Ejection click">Ejection click</a></span></li><li><span class="TLline"><a href="/medgen/534350" ref="tree=MeSH" title="MedGen record for Gallop rhythm">Gallop rhythm</a></span></li><li><span class="TLline"><a href="/medgen/9171" ref="tree=MeSH" title="MedGen record for Heart murmur">Heart murmur</a></span></li><li><span class="TLline"><a href="/medgen/629545" ref="tree=MeSH" title="MedGen record for Loud first heart sound">Loud first heart sound</a></span></li><li><span class="TLline"><a href="/medgen/1863871" ref="tree=MeSH" title="MedGen record for Mitral opening snap">Mitral opening snap</a></span></li><li><span class="TLline"><a href="/medgen/534401" ref="tree=MeSH" title="MedGen record for Pericardial friction rub">Pericardial friction rub</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1632330" ref="tree=MeSH" title="MedGen record for Abnormal heart valve physiology">Abnormal heart valve physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1637769" ref="tree=MeSH" title="MedGen record for Abnormal aortic valve physiology">Abnormal aortic valve physiology</a></span></li><li><span class="TLline"><a href="/medgen/1647733" ref="tree=MeSH" title="MedGen record for Abnormal atrioventricular valve physiology">Abnormal atrioventricular valve physiology</a></span></li><li><span class="TLline"><a href="/medgen/1640121" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary valve physiology">Abnormal pulmonary valve physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1393355" ref="tree=MeSH" title="MedGen record for Abnormal systemic blood pressure">Abnormal systemic blood pressure</a></span><ul><li><span class="TLline"><a href="/medgen/1052768" ref="tree=MeSH" title="MedGen record for Asymmetric blood pressure between limbs">Asymmetric blood pressure between limbs</a></span></li><li><span class="TLline"><a href="/medgen/1704121" ref="tree=MeSH" title="MedGen record for Blood pressure substantially higher in arms than legs">Blood pressure substantially higher in arms than legs</a></span></li><li><span class="TLline"><a href="/medgen/1697070" ref="tree=MeSH" title="MedGen record for Blood pressure substantially higher in legs than arms">Blood pressure substantially higher in legs than arms</a></span></li><li><span class="TLline"><a href="/medgen/5715" ref="tree=MeSH" title="MedGen record for Hypotension">Hypotension</a></span></li><li><span class="TLline"><a href="/medgen/635666" ref="tree=MeSH" title="MedGen record for Increased blood pressure">Increased blood pressure</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868211" ref="tree=MeSH" title="MedGen record for Abnormal vascular physiology">Abnormal vascular physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1370420" ref="tree=MeSH" title="MedGen record for Abnormal arterial physiology">Abnormal arterial physiology</a></span></li><li><span class="TLline"><a href="/medgen/927606" ref="tree=MeSH" title="MedGen record for Abnormal capillary physiology">Abnormal capillary physiology</a></span></li><li><span class="TLline"><a href="/medgen/882202" ref="tree=MeSH" title="MedGen record for Abnormal pulse pressure">Abnormal pulse pressure</a></span></li><li><span class="TLline"><a href="/medgen/908799" ref="tree=MeSH" title="MedGen record for Abnormality of pulmonary circulation">Abnormality of pulmonary circulation</a></span></li><li><span class="TLline"><a href="/medgen/894842" ref="tree=MeSH" title="MedGen record for Abnormality of venous physiology">Abnormality of venous physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893124" ref="tree=MeSH" title="MedGen record for Abnormality of blood circulation">Abnormality of blood circulation</a></span><ul><li><span class="TLline"><a href="/medgen/1778903" ref="tree=MeSH" title="MedGen record for Abnormal cardiac output">Abnormal cardiac output</a></span></li><li><span class="TLline"><a href="/medgen/869119" ref="tree=MeSH" title="MedGen record for Abnormality of blood volume homeostasis">Abnormality of blood volume homeostasis</a></span></li><li><span class="TLline"><a href="/medgen/488795" ref="tree=MeSH" title="MedGen record for Cardiac shunt">Cardiac shunt</a></span></li><li><span class="TLline"><a href="/medgen/850720" ref="tree=MeSH" title="MedGen record for Internal hemorrhage">Internal hemorrhage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1393551" ref="tree=MeSH" title="MedGen record for Abnormality of cardiovascular system electrophysiology">Abnormality of cardiovascular system electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/105507" ref="tree=MeSH" title="MedGen record for Abnormal EKG">Abnormal EKG</a></span></li><li><span class="TLline"><a href="/medgen/2039" ref="tree=MeSH" title="MedGen record for Cardiac arrhythmia">Cardiac arrhythmia</a></span></li><li><span class="TLline"><a href="/medgen/334259" ref="tree=MeSH" title="MedGen record for Cardiac conduction abnormality">Cardiac conduction abnormality</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/215295" ref="tree=MeSH" title="MedGen record for Acute coronary syndrome">Acute coronary syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10150" ref="tree=MeSH" title="MedGen record for Myocardial infarction">Myocardial infarction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1929" ref="tree=MeSH" title="MedGen record for Angina pectoris">Angina pectoris</a></span><ul><li><span class="TLline"><a href="/medgen/149267" ref="tree=MeSH" title="MedGen record for Atypical angina">Atypical angina</a></span></li><li><span class="TLline"><a href="/medgen/104771" ref="tree=MeSH" title="MedGen record for Coronary microvascular disorder">Coronary microvascular disorder</a></span></li><li><span class="TLline"><a href="/medgen/296" ref="tree=MeSH" title="MedGen record for Intermediate coronary syndrome">Intermediate coronary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/295" ref="tree=MeSH" title="MedGen record for Prinzmetal angina">Prinzmetal angina</a></span></li><li><span class="TLline"><a href="/medgen/87401" ref="tree=MeSH" title="MedGen record for Stable angina">Stable angina</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40108" ref="tree=MeSH" title="MedGen record for Cardiac tamponade">Cardiac tamponade</a></span></li><li><span class="TLline"><a href="/medgen/745001" ref="tree=MeSH" title="MedGen record for Chronotropic incompetence">Chronotropic incompetence</a></span></li><li><span class="TLline"><a href="/medgen/9169" ref="tree=MeSH" title="MedGen record for Congestive heart failure">Congestive heart failure</a></span><ul><li><span class="TLline"><a href="/medgen/196646" ref="tree=MeSH" title="MedGen record for High-output congestive heart failure">High-output congestive heart failure</a></span></li><li><span class="TLline"><a href="/medgen/869772" ref="tree=MeSH" title="MedGen record for Low-output congestive heart failure">Low-output congestive heart failure</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864272" ref="tree=MeSH" title="MedGen record for Failure to elevate ammonia on ischemic exercise">Failure to elevate ammonia on ischemic exercise</a></span></li><li><span class="TLline"><a href="/medgen/1863547" ref="tree=MeSH" title="MedGen record for Failure to increase oxygen saturation on hyperoxia test">Failure to increase oxygen saturation on hyperoxia test</a></span></li><li><span class="TLline"><a href="/medgen/148578" ref="tree=MeSH" title="MedGen record for Presyncope">Presyncope</a></span></li><li><span class="TLline"><a href="/medgen/870560" ref="tree=MeSH" title="MedGen record for Reduced systolic function">Reduced systolic function</a></span><ul><li><span class="TLline"><a href="/medgen/339750" ref="tree=MeSH" title="MedGen record for Global systolic dysfunction">Global systolic dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/870561" ref="tree=MeSH" title="MedGen record for Impaired myocardial contractility">Impaired myocardial contractility</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20738" ref="tree=MeSH" title="MedGen record for Shock">Shock</a></span><ul><li><span class="TLline"><a href="/medgen/1373755" ref="tree=MeSH" title="MedGen record for Anaphylactic shock">Anaphylactic shock</a></span></li><li><span class="TLline"><a href="/medgen/48650" ref="tree=MeSH" title="MedGen record for Cardiogenic shock">Cardiogenic shock</a></span></li><li><span class="TLline"><a href="/medgen/1612211" ref="tree=MeSH" title="MedGen record for Distributive shock">Distributive shock</a></span></li><li><span class="TLline"><a href="/medgen/11409" ref="tree=MeSH" title="MedGen record for Hemorrhagic shock">Hemorrhagic shock</a></span></li><li><span class="TLline"><a href="/medgen/1789315" ref="tree=MeSH" title="MedGen record for Hypotensive Shock">Hypotensive Shock</a></span></li><li><span class="TLline"><a href="/medgen/5722" ref="tree=MeSH" title="MedGen record for Hypovolemic shock">Hypovolemic shock</a></span></li><li><span class="TLline"><a href="/medgen/279666" ref="tree=MeSH" title="MedGen record for Insulin Shock">Insulin Shock</a></span></li><li><span class="TLline"><a href="/medgen/822261" ref="tree=MeSH" title="MedGen record for Intrapartum Shock">Intrapartum Shock</a></span></li><li><span class="TLline"><a href="/medgen/6462" ref="tree=MeSH" title="MedGen record for Multiple organ dysfunction syndrome">Multiple organ dysfunction syndrome</a></span></li><li><span class="TLline"><a href="/medgen/107781" ref="tree=MeSH" title="MedGen record for Neurogenic shock">Neurogenic shock</a></span></li><li><span class="TLline"><a href="/medgen/1621062" ref="tree=MeSH" title="MedGen record for Obstructive shock">Obstructive shock</a></span></li><li><span class="TLline"><a href="/medgen/821252" ref="tree=MeSH" title="MedGen record for Postpartum Shock">Postpartum Shock</a></span></li><li><span class="TLline"><a href="/medgen/11410" ref="tree=MeSH" title="MedGen record for Septic shock">Septic shock</a></span></li><li><span class="TLline"><a href="/medgen/407976" ref="tree=MeSH" title="MedGen record for Shock From Lead">Shock From Lead</a></span></li><li><span class="TLline"><a href="/medgen/11411" ref="tree=MeSH" title="MedGen record for Surgical Shock">Surgical Shock</a></span></li><li><span class="TLline"><a href="/medgen/69303" ref="tree=MeSH" title="MedGen record for Systemic inflammatory response syndrome">Systemic inflammatory response syndrome</a></span></li><li><span class="TLline"><a href="/medgen/19964" ref="tree=MeSH" title="MedGen record for Traumatic shock">Traumatic shock</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21443" ref="tree=MeSH" title="MedGen record for Syncope">Syncope</a></span><ul><li><span class="TLline"><a href="/medgen/1708567" ref="tree=MeSH" title="MedGen record for Arrhythmogenic Syncope">Arrhythmogenic Syncope</a></span></li><li><span class="TLline"><a href="/medgen/113141" ref="tree=MeSH" title="MedGen record for Carotid sinus syncope">Carotid sinus syncope</a></span></li><li><span class="TLline"><a href="/medgen/1712686" ref="tree=MeSH" title="MedGen record for Drug-induced Syncope">Drug-induced Syncope</a></span></li><li><span class="TLline"><a href="/medgen/65902" ref="tree=MeSH" title="MedGen record for Effort syncope">Effort syncope</a></span></li><li><span class="TLline"><a href="/medgen/1714363" ref="tree=MeSH" title="MedGen record for Faceplant">Faceplant</a></span></li><li><span class="TLline"><a href="/medgen/776676" ref="tree=MeSH" title="MedGen record for Orthostatic syncope">Orthostatic syncope</a></span></li><li><span class="TLline"><a href="/medgen/536371" ref="tree=MeSH" title="MedGen record for Psychogenic syncope">Psychogenic syncope</a></span></li><li><span class="TLline"><a href="/medgen/748921" ref="tree=MeSH" title="MedGen record for Reflex asystolic syncope">Reflex asystolic syncope</a></span></li><li><span class="TLline"><a href="/medgen/1718034" ref="tree=MeSH" title="MedGen record for Syncope due to Acquired Heart Lesion">Syncope due to Acquired Heart Lesion</a></span></li><li><span class="TLline"><a href="/medgen/1717259" ref="tree=MeSH" title="MedGen record for Syncope due to Congenital Heart Lesion">Syncope due to Congenital Heart Lesion</a></span></li><li><span class="TLline"><a href="/medgen/1709755" ref="tree=MeSH" title="MedGen record for Syncope due to Migraine">Syncope due to Migraine</a></span></li><li><span class="TLline"><a href="/medgen/1710535" ref="tree=MeSH" title="MedGen record for Syncope due to Pulmonary Hypertension">Syncope due to Pulmonary Hypertension</a></span></li><li><span class="TLline"><a href="/medgen/473896" ref="tree=MeSH" title="MedGen record for Syncope with High Risk Cardiac Characteristics">Syncope with High Risk Cardiac Characteristics</a></span></li><li><span class="TLline"><a href="/medgen/12060" ref="tree=MeSH" title="MedGen record for Vasovagal syncope">Vasovagal syncope</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/66032" ref="tree=MeSH" title="MedGen record for Abnormality of the vasculature">Abnormality of the vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/870814" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary vasculature">Abnormality of the pulmonary vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/488776" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary artery">Abnormality of the pulmonary artery</a></span></li><li><span class="TLline"><a href="/medgen/539575" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary veins">Abnormality of the pulmonary veins</a></span></li><li><span class="TLline"><a href="/medgen/410118" ref="tree=MeSH" title="MedGen record for Agenesis of pulmonary vessels">Agenesis of pulmonary vessels</a></span></li><li><span class="TLline"><a href="/medgen/1785553" ref="tree=MeSH" title="MedGen record for Peripheral lung neovascularity">Peripheral lung neovascularity</a></span></li><li><span class="TLline"><a href="/medgen/376462" ref="tree=MeSH" title="MedGen record for Peripheral pulmonary vessel aplasia">Peripheral pulmonary vessel aplasia</a></span></li><li><span class="TLline"><a href="/medgen/1779316" ref="tree=MeSH" title="MedGen record for Pulmonary capillary angioectasia">Pulmonary capillary angioectasia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/56387" ref="tree=MeSH" title="MedGen record for Vascular malformation">Vascular malformation</a></span><ul><li><span class="TLline"><a href="/medgen/13914" ref="tree=MeSH" title="MedGen record for Arterio-Arterial Fistula">Arterio-Arterial Fistula</a></span><ul><li><span class="TLline"><a href="/medgen/760471" ref="tree=MeSH" title="MedGen record for Anomalous origin of left coronary artery from the pulmonary artery">Anomalous origin of left coronary artery from the pulmonary artery</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2042" ref="tree=MeSH" title="MedGen record for Arteriovenous malformation">Arteriovenous malformation</a></span><ul><li><span class="TLline"><a href="/medgen/2041" ref="tree=MeSH" title="MedGen record for Arteriovenous fistula">Arteriovenous fistula</a></span></li><li><span class="TLline"><a href="/medgen/851" ref="tree=MeSH" title="MedGen record for Arteriovenous Malformation, Intracranial">Arteriovenous Malformation, Intracranial</a></span></li><li><span class="TLline"><a href="/medgen/1863816" ref="tree=MeSH" title="MedGen record for Bone arteriovenous malformation">Bone arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/148166" ref="tree=MeSH" title="MedGen record for Gastrointestinal arteriovenous malformation">Gastrointestinal arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/101044" ref="tree=MeSH" title="MedGen record for Hepatic arteriovenous malformation">Hepatic arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/1863823" ref="tree=MeSH" title="MedGen record for Muscle arteriovenous malformation">Muscle arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/1864086" ref="tree=MeSH" title="MedGen record for Paraspinal arteriovenous malformation">Paraspinal arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/1626617" ref="tree=MeSH" title="MedGen record for Pelvic arteriovenous malformation">Pelvic arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/341826" ref="tree=MeSH" title="MedGen record for Pulmonary arteriovenous malformation">Pulmonary arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/83876" ref="tree=MeSH" title="MedGen record for Spinal arteriovenous malformation">Spinal arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/1613728" ref="tree=MeSH" title="MedGen record for Uterine arteriovenous malformation">Uterine arteriovenous malformation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349361" ref="tree=MeSH" title="MedGen record for Celiac artery stenosis from compression by median arcuate ligament of diaphragm">Celiac artery stenosis from compression by median arcuate ligament of diaphragm</a></span></li><li><span class="TLline"><a href="/medgen/52657" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a></span><ul><li><span class="TLline"><a href="/medgen/371403" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 3">Hereditary hemorrhagic telangiectasia type 3</a></span></li><li><span class="TLline"><a href="/medgen/341824" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 4">Hereditary hemorrhagic telangiectasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1643786" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 1">Telangiectasia, hereditary hemorrhagic, type 1</a></span></li><li><span class="TLline"><a href="/medgen/324960" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 2">Telangiectasia, hereditary hemorrhagic, type 2</a></span></li><li><span class="TLline"><a href="/medgen/816040" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 5">Telangiectasia, hereditary hemorrhagic, type 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473753" ref="tree=MeSH" title="MedGen record for May-Thurner syndrome">May-Thurner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75586" ref="tree=MeSH" title="MedGen record for Persistent left superior vena cava">Persistent left superior vena cava</a></span><ul><li><span class="TLline"><a href="/medgen/488865" ref="tree=MeSH" title="MedGen record for Absent right superior vena cava">Absent right superior vena cava</a></span></li><li><span class="TLline"><a href="/medgen/576402" ref="tree=MeSH" title="MedGen record for Bilateral superior vena cava">Bilateral superior vena cava</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116684" ref="tree=MeSH" title="MedGen record for Pulmonary valve atresia">Pulmonary valve atresia</a></span><ul><li><span class="TLline"><a href="/medgen/87491" ref="tree=MeSH" title="MedGen record for Pulmonary atresia with intact ventricular septum">Pulmonary atresia with intact ventricular septum</a></span></li><li><span class="TLline"><a href="/medgen/87492" ref="tree=MeSH" title="MedGen record for Pulmonary atresia with ventricular septal defect">Pulmonary atresia with ventricular septal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20675" ref="tree=MeSH" title="MedGen record for Scimitar syndrome">Scimitar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/278026" ref="tree=MeSH" title="MedGen record for Single umbilical artery">Single umbilical artery</a></span></li><li><span class="TLline"><a href="/medgen/42588" ref="tree=MeSH" title="MedGen record for Vascular Fistula">Vascular Fistula</a></span></li><li><span class="TLline"><a href="/medgen/156014" ref="tree=MeSH" title="MedGen record for Vascular malformation of the nervous system">Vascular malformation of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/199825" ref="tree=MeSH" title="MedGen record for Central Nervous System Cavernous Hemangioma">Central Nervous System Cavernous Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/156018" ref="tree=MeSH" title="MedGen record for Central Nervous System Venous Angioma">Central Nervous System Venous Angioma</a></span></li><li><span class="TLline"><a href="/medgen/214590" ref="tree=MeSH" title="MedGen record for Cerebral arteriovenous malformation">Cerebral arteriovenous malformation</a></span></li><li><span class="TLline"><a href="/medgen/418825" ref="tree=MeSH" title="MedGen record for Cerebral cavernous malformation">Cerebral cavernous malformation</a></span></li><li><span class="TLline"><a href="/medgen/890255" ref="tree=MeSH" title="MedGen record for Meningioangiomatosis">Meningioangiomatosis</a></span></li><li><span class="TLline"><a href="/medgen/120580" ref="tree=MeSH" title="MedGen record for Sinus pericranii">Sinus pericranii</a></span></li><li><span class="TLline"><a href="/medgen/287069" ref="tree=MeSH" title="MedGen record for Vein of Galen malformation">Vein of Galen malformation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65131" ref="tree=MeSH" title="MedGen record for Vascular ring">Vascular ring</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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_1324"><div><strong>Primary adrenocortical insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1324</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.">C0001403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1324">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82666"><div><strong>Atrophoderma vermiculatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82666</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.">C0263429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82666">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_90803"><div><strong>Hemangiopericytoma, malignant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90803</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.">C0334542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/90803">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83311"><div><strong>Familial isolated complete right bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83311</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.">C0340504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83311">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_107901"><div><strong>Thumb deformity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107901</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.">C0575897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal structure of the first digit of the hand.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107901">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162909"><div><strong>Perlman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162909</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.">C0796113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162909">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_316814"><div><strong>Prepapillary vascular loop</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316814</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.">C1828066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/316814">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331718"><div><strong>Necrotizing encephalomyelopathy, subacute, of Leigh, adult</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331718</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.">C1834340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS) is part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation, which includes the overlapping phenotypes mtDNA-associated Leigh syndrome and mtDNA-associated Leigh-like syndrome. Mitochondrial DNA-LSS is characterized by onset of manifestations typically between ages three and 12 months, often following an intercurrent illness (usually viral) or metabolic challenge (vaccinations, surgery, prolonged fasting). Decompensation (often with elevated lactate levels in blood and/or cerebrospinal fluid) is typically associated with developmental delay and/or regression. Neurologic features include hypotonia, spasticity, seizures, movement disorders, cerebellar ataxia, and peripheral neuropathy. Brain stem dysfunction may manifest with respiratory symptoms, swallowing difficulties, ophthalmoparesis, and abnormalities in thermoregulation. Extraneurologic manifestations may include poor weight gain, cardiomyopathy, and conduction defects. Up to 50% of individuals die by age three years, most often from respiratory or cardiac failure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331718">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331805"><div><strong>Bethlem myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331805</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.">C1834674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331805">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374264"><div><strong>X-linked myopathy with excessive autophagy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374264</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.">C1839615</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 myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015). Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374264">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_333883"><div><strong>Heart-hand syndrome type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333883</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.">C1841657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/333883">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340124"><div><strong>Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340124</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.">C1854063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is characterized by the presence of woolly or sparse hair from birth. Some patients exhibit fragile skin with blisters/erosions after minor mechanical trauma, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported, but patients may remain asymptomatic into the fourth decade of life. Some patients exhibit an arrhythmogenic form of cardiomyopathy, with sudden death in early adulthood (Carvajal-Huerta, 1998; Whittock et al., 2002; Alcalai et al., 2003; Uzumcu et al., 2006). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (Naxos disease; 601214) is caused by mutation in the plakoglobin gene (JUP; 173325). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645). Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA; 615821) is caused by heterozygous mutation in DSP. An isolated form of striated PPK (PPKS2; 612908) is also caused by heterozygous mutation in DSP. Reviews In a review of cardiocutaneous syndromes and arrhythmogenic cardiomyopathy, Sen-Chowdhry and McKenna (2014) stated that although the cardiac component of Carvajal syndrome was originally considered dilated cardiomyopathy, many of its features resemble those of arrhythmogenic cardiomyopathy (see 607450). In addition, they noted that different disease subtypes have been found to coexist within the same kindred, suggesting a role for modifier genes and/or environmental influences.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340124">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383962"><div><strong>Friedreich ataxia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383962</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.">C1856689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383962">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395425"><div><strong>Acro-renal-mandibular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395425</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.">C1860166</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395425">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_348623"><div><strong>Venular insufficiency, systemic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348623</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.">C1860465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/348623">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356134"><div><strong>Friedreich ataxia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356134</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.">C1865981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356134">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_360295"><div><strong>Arteries, anomalies of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>360295</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.">C1876179</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/360295">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444010"><div><strong>Potocki-Lupski syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444010</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.">C2931246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767432"><div><strong>Cowden syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767432</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.">C3554518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/767432">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767433"><div><strong>Cowden syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767433</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.">C3554519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767433">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718472"><div><strong>Silver-Russell syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718472</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.">C5393125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with frontal bossing, and frequently body asymmetry. This is typically followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, growth failure is proportionate and head growth typically normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1718472">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861039"><div><strong>Autosomal recessive nonsyndromic hearing loss 124</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861039</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.">C5935612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Autosomal recessive deafness-124 (DFNB124) is characterized by congenital nonsyndromic progressive sensorineural hearing loss (Redfield et al., 2024).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1861039">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acro-renal-mandibular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_360295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arteries, anomalies of</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophoderma vermiculatum</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive nonsyndromic hearing loss 124</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bethlem myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial isolated complete right bundle branch block</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Friedreich ataxia 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Friedreich ataxia 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heart-hand syndrome type 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemangiopericytoma, malignant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331718" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Necrotizing encephalomyelopathy, subacute, of Leigh, adult</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perlman syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potocki-Lupski syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prepapillary vascular loop</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary adrenocortical insufficiency</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Silver-Russell syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thumb deformity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348623" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Venular insufficiency, systemic</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked myopathy with excessive autophagy</a></div></span></div></div>
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</div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36322642">2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Isselbacher EM,
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Preventza O,
|
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Hamilton Black J 3rd,
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Augoustides JG,
|
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Beck AW,
|
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Bolen MA,
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Braverman AC,
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Bray BE,
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Brown-Zimmerman MM,
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Chen EP,
|
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Collins TJ,
|
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DeAnda A Jr,
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Fanola CL,
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Girardi LN,
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Hicks CW,
|
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Hui DS,
|
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Schuyler Jones W,
|
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Kalahasti V,
|
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Kim KM,
|
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Milewicz DM,
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Oderich GS,
|
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Ogbechie L,
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Promes SB,
|
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Gyang Ross E,
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Schermerhorn ML,
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Singleton Times S,
|
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Tseng EE,
|
||
Wang GJ,
|
||
Woo YJ;
|
||
Peer Review Committee Members</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2022 Dec 13;146(24):e334-e482.
|
||
Epub 2022 Nov 2
|
||
doi: 10.1161/CIR.0000000000001106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36322642" target="_blank">36322642</a><a href="/pmc/articles/PMC9876736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32199055">Congenital heart disease, prenatal diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meller CH,
|
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Grinenco S,
|
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Aiello H,
|
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Córdoba A,
|
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Sáenz-Tejeira MM,
|
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Marantz P,
|
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Otaño L</span><br />
|
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<span class="medgenPMjournal">Arch Argent Pediatr</span>
|
||
2020 Apr;118(2):e149-e161.
|
||
doi: 10.5546/aap.2020.eng.e149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32199055" target="_blank">32199055</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28356445">Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCrindle BW,
|
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Rowley AH,
|
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Newburger JW,
|
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Burns JC,
|
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Bolger AF,
|
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Gewitz M,
|
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Baker AL,
|
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Jackson MA,
|
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Takahashi M,
|
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Shah PB,
|
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Kobayashi T,
|
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Wu MH,
|
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Saji TT,
|
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Pahl E;
|
||
American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee of the Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Council on Cardiovascular Surgery and Anesthesia; and Council on Epidemiology and Prevention</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2017 Apr 25;135(17):e927-e999.
|
||
Epub 2017 Mar 29
|
||
doi: 10.1161/CIR.0000000000000484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28356445" target="_blank">28356445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20cardiovascular%20system)%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 (8744)</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">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12528168">Isolated non-compaction of the ventricular myocardium: prenatal diagnosis and natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karatza AA,
|
||
Holder SE,
|
||
Gardiner HM</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2003 Jan;21(1):75-80.
|
||
doi: 10.1002/uog.10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12528168" target="_blank">12528168</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20cardiovascular%20system%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 (1)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22616242">Hybrid surgical management of a patient with an aneurysm of the arch and descending portion of the right-sided aorta combined with type B dissection and decompensated tracheal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belov YV,
|
||
Abugov SA,
|
||
Komarov RN,
|
||
Puretskiĭ MV,
|
||
Stepanenko AB,
|
||
Stogniĭ NY,
|
||
Magamadov YU</span><br />
|
||
<span class="medgenPMjournal">Angiol Sosud Khir</span>
|
||
2011;17(4):131-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22616242" target="_blank">22616242</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20cardiovascular%20system%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12528168">Isolated non-compaction of the ventricular myocardium: prenatal diagnosis and natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karatza AA,
|
||
Holder SE,
|
||
Gardiner HM</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2003 Jan;21(1):75-80.
|
||
doi: 10.1002/uog.10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12528168" target="_blank">12528168</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20cardiovascular%20system%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
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||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0243050%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0243050%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0243050%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20cardiovascular%20system" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20cardiovascular%20system)%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(%22Abnormality%20of%20the%20cardiovascular%20system%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormality%20of%20the%20cardiovascular%20system" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Abnormality%20of%20the%20cardiovascular%20system" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Abnormality%20of%20the%20cardiovascular%20system%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=116727" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0243050[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0243050[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=116727" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=116727" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=116727" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d33a20cde49f3df7893cba">Abnormality of the cardiovascular system</a>
|
||
<div class="ralinkpop offscreen_noflow">Abnormality of the cardiovascular system<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
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