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<meta name="keywords" content="C4225217, disease or syndrome, heterotaxy, visceral, 7, autosomal, heterotaxy, visceral, 7, autosomal; htx7, htx7, mmp21, mmp21 visceral heterotaxy, visceral heterotaxy caused by mutation in mmp21, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=902629
|
||
ConceptID=C4225217
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Heterotaxy, visceral, 7, autosomal<span class="h1sub">(HTX7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4225217</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HTX7</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MMP21 - ID: 118856 - NCBI Gene" href="/gene/118856" class="medgenPMinfo">MMP21</a> (10q26.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014762" target="_blank">MONDO:0014762</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616749" target="_blank">616749</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4255"><div><strong>Dextrocardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4255</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.">C0011813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4255">Feature record</a> | <a href="/medgen?term=%22Dextrocardia%22%5BClinical%20Features%5D%20OR%204255%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48474"><div><strong>Right aortic arch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48474</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.">C0035615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aorta descends on right instead of on the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48474">Feature record</a> | <a href="/medgen?term=%22Right%20aortic%20arch%22%5BClinical%20Features%5D%20OR%2048474%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21245"><div><strong>Transposition of the great arteries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21245</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.">C0040761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21245">Feature record</a> | <a href="/medgen?term=%22Transposition%20of%20the%20great%20arteries%22%5BClinical%20Features%5D%20OR%2021245%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57773"><div><strong>Aortic arch interruption</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57773</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.">C0152419</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Non-continuity of the arch of aorta with an atretic point or absent segment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57773">Feature record</a> | <a href="/medgen?term=%22Aortic%20arch%20interruption%22%5BClinical%20Features%5D%20OR%2057773%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82723"><div><strong>Pulmonary artery atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82723</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.">C0265908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82723">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20atresia%22%5BClinical%20Features%5D%20OR%2082723%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75585"><div><strong>Pulmonary artery hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75585</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.">C0265910</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75585">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20hypoplasia%22%5BClinical%20Features%5D%20OR%2075585%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91035"><div><strong>Mitral atresia disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91035</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.">C0344760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital defect with failure to open of the mitral valve orifice.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91035">Feature record</a> | <a href="/medgen?term=%22Mitral%20atresia%20disorder%22%5BClinical%20Features%5D%20OR%2091035%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488886"><div><strong>Common atrium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488886</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.">C0392482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488886">Feature record</a> | <a href="/medgen?term=%22Common%20atrium%22%5BClinical%20Features%5D%20OR%20488886%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235591"><div><strong>Atrioventricular canal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235591</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.">C1389016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the atrioventricular septum of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235591">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20canal%20defect%22%5BClinical%20Features%5D%20OR%20235591%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488999"><div><strong>Abnormal aortic valve morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488999</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.">C3164445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the aortic valve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488999">Feature record</a> | <a href="/medgen?term=%22Abnormal%20aortic%20valve%20morphology%22%5BClinical%20Features%5D%20OR%20488999%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868827"><div><strong>Interrupted inferior vena cava with azygous continuation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868827</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.">C4023237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868827">Feature record</a> | <a href="/medgen?term=%22Interrupted%20inferior%20vena%20cava%20with%20azygous%20continuation%22%5BClinical%20Features%5D%20OR%20868827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871267"><div><strong>Abnormal tricuspid valve morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871267</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.">C4025753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural anomaly of the tricuspid valve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871267">Feature record</a> | <a href="/medgen?term=%22Abnormal%20tricuspid%20valve%20morphology%22%5BClinical%20Features%5D%20OR%20871267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_903846"><div><strong>Hypoplasia of right ventricle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903846</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.">C4082954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903846">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20right%20ventricle%22%5BClinical%20Features%5D%20OR%20903846%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642262"><div><strong>Situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642262</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.">C4551493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642262">Feature record</a> | <a href="/medgen?term=%22Situs%20inversus%22%5BClinical%20Features%5D%20OR%201642262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648157"><div><strong>Congenital total pulmonary venous return anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648157</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.">C4551903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648157">Feature record</a> | <a href="/medgen?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%22%5BClinical%20Features%5D%20OR%201648157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830392"><div><strong>Abnormal cardiac septum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830392</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.">C5779791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of the intra-atrial or intraventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830392">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cardiac%20septum%20morphology%22%5BClinical%20Features%5D%20OR%201830392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75620"><div><strong>Heterotaxy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75620</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.">C0266642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75620">Feature record</a> | <a href="/medgen?term=%22Heterotaxy%22%5BClinical%20Features%5D%20OR%2075620%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113153"><div><strong>Intestinal malrotation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113153</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.">C0221210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113153">Feature record</a> | <a href="/medgen?term=%22Intestinal%20malrotation%22%5BClinical%20Features%5D%20OR%20113153%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383959"><div><strong>Polysplenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383959</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.">C1856659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polysplenia is a congenital disease manifested by multiple small accessory spleens.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383959">Feature record</a> | <a href="/medgen?term=%22Polysplenia%22%5BClinical%20Features%5D%20OR%20383959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1189"><div><strong>Cyanosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1189</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.">C0010520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1189">Feature record</a> | <a href="/medgen?term=%22Cyanosis%22%5BClinical%20Features%5D%20OR%201189%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal aortic valve morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cardiac septum morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal tricuspid valve morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic arch interruption</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular canal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Common atrium</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital total pulmonary venous return anomaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dextrocardia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_903846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of right ventricle</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interrupted inferior vena cava with azygous continuation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91035" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral atresia disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82723" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery atresia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right aortic arch</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Situs inversus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transposition of the great arteries</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal malrotation</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polysplenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyanosis</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39513328">Genetic Analysis of Heterotaxy in a Consanguineous Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Korashy M,
|
||
Binomar H,
|
||
Al-Mostafa A,
|
||
Al-Mogarri I,
|
||
Al-Oufi S,
|
||
Al-Admawi M,
|
||
Al-Jufan M,
|
||
Echahidi N,
|
||
Mokeem A,
|
||
Alfares A,
|
||
Ramzan K,
|
||
Tulbah S,
|
||
Al-Qahtani A,
|
||
Takroni S,
|
||
Maddirevula S,
|
||
Al-Hassnan Z</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2025 Feb;107(2):224-230.
|
||
Epub 2024 Nov 8
|
||
doi: 10.1111/cge.14641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39513328" target="_blank">39513328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23438674">Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapur RP,
|
||
Cole B,
|
||
Zhang M,
|
||
Lin J,
|
||
Fligner CL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2013 May-Jun;16(3):191-200.
|
||
Epub 2013 Feb 25
|
||
doi: 10.2350/12-12-1281-OA.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23438674" target="_blank">23438674</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heterotaxy%2C%20visceral%2C%207%2C%20autosomal%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39513328">Genetic Analysis of Heterotaxy in a Consanguineous Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Korashy M,
|
||
Binomar H,
|
||
Al-Mostafa A,
|
||
Al-Mogarri I,
|
||
Al-Oufi S,
|
||
Al-Admawi M,
|
||
Al-Jufan M,
|
||
Echahidi N,
|
||
Mokeem A,
|
||
Alfares A,
|
||
Ramzan K,
|
||
Tulbah S,
|
||
Al-Qahtani A,
|
||
Takroni S,
|
||
Maddirevula S,
|
||
Al-Hassnan Z</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2025 Feb;107(2):224-230.
|
||
Epub 2024 Nov 8
|
||
doi: 10.1111/cge.14641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39513328" target="_blank">39513328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38708840">The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reilly K,
|
||
Sonner S,
|
||
McCay N,
|
||
Rolnik DL,
|
||
Casey F,
|
||
Seale AN,
|
||
Watson CJ,
|
||
Kan A,
|
||
Lai THT,
|
||
Chung BHY,
|
||
Diderich KEM,
|
||
Srebniak MI,
|
||
Dempsey E,
|
||
Drury S,
|
||
Giordano J,
|
||
Wapner R,
|
||
Kilby MD,
|
||
Chitty LS,
|
||
Mone F</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Jun;44(6-7):821-831.
|
||
Epub 2024 May 6
|
||
doi: 10.1002/pd.6581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38708840" target="_blank">38708840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36316122">A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganapathi M,
|
||
Buchovecky CM,
|
||
Cristo F,
|
||
Ahimaz P,
|
||
Ruzal-Shapiro C,
|
||
Wou K,
|
||
Inácio JM,
|
||
Iglesias A,
|
||
Belo JA,
|
||
Jobanputra V</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2022 Dec;8(7)
|
||
Epub 2022 Dec 28
|
||
doi: 10.1101/mcs.a006248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36316122" target="_blank">36316122</a><a href="/pmc/articles/PMC9808554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19606528">Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leigh MW,
|
||
Pittman JE,
|
||
Carson JL,
|
||
Ferkol TW,
|
||
Dell SD,
|
||
Davis SD,
|
||
Knowles MR,
|
||
Zariwala MA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2009 Jul;11(7):473-87.
|
||
doi: 10.1097/GIM.0b013e3181a53562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19606528" target="_blank">19606528</a><a href="/pmc/articles/PMC3739704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17938964">A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessels MW,
|
||
De Graaf BM,
|
||
Cohen-Overbeek TE,
|
||
Spitaels SE,
|
||
de Groot-de Laat LE,
|
||
Ten Cate FJ,
|
||
Frohn-Mulder IF,
|
||
de Krijger R,
|
||
Bartelings MM,
|
||
Essed N,
|
||
Wladimiroff JW,
|
||
Niermeijer MF,
|
||
Heutink P,
|
||
Oostra BA,
|
||
Dooijes D,
|
||
Bertoli-Avella AM,
|
||
Willems PJ</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2008 Jan;122(6):595-603.
|
||
Epub 2007 Oct 16
|
||
doi: 10.1007/s00439-007-0436-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17938964" target="_blank">17938964</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heterotaxy%2C%20visceral%2C%207%2C%20autosomal%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9735377">Two rights make a wrong: human left-right malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casey B</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1998;7(10):1565-71.
|
||
doi: 10.1093/hmg/7.10.1565.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9735377" target="_blank">9735377</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heterotaxy%2C%20visceral%2C%207%2C%20autosomal%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/30622330">Genetic architecture of laterality defects revealed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li AH,
|
||
Hanchard NA,
|
||
Azamian M,
|
||
D'Alessandro LCA,
|
||
Coban-Akdemir Z,
|
||
Lopez KN,
|
||
Hall NJ,
|
||
Dickerson H,
|
||
Nicosia A,
|
||
Fernbach S,
|
||
Boone PM,
|
||
Gambin T,
|
||
Karaca E,
|
||
Gu S,
|
||
Yuan B,
|
||
Jhangiani SN,
|
||
Doddapaneni H,
|
||
Hu J,
|
||
Dinh H,
|
||
Jayaseelan J,
|
||
Muzny D,
|
||
Lalani S,
|
||
Towbin J,
|
||
Penny D,
|
||
Fraser C,
|
||
Martin J,
|
||
Lupski JR,
|
||
Gibbs RA,
|
||
Boerwinkle E,
|
||
Ware SM,
|
||
Belmont JW</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2019 Apr;27(4):563-573.
|
||
Epub 2019 Jan 8
|
||
doi: 10.1038/s41431-018-0307-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30622330" target="_blank">30622330</a><a href="/pmc/articles/PMC6460585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heterotaxy%2C%20visceral%2C%207%2C%20autosomal%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><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39513328">Genetic Analysis of Heterotaxy in a Consanguineous Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Korashy M,
|
||
Binomar H,
|
||
Al-Mostafa A,
|
||
Al-Mogarri I,
|
||
Al-Oufi S,
|
||
Al-Admawi M,
|
||
Al-Jufan M,
|
||
Echahidi N,
|
||
Mokeem A,
|
||
Alfares A,
|
||
Ramzan K,
|
||
Tulbah S,
|
||
Al-Qahtani A,
|
||
Takroni S,
|
||
Maddirevula S,
|
||
Al-Hassnan Z</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2025 Feb;107(2):224-230.
|
||
Epub 2024 Nov 8
|
||
doi: 10.1111/cge.14641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39513328" target="_blank">39513328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30622330">Genetic architecture of laterality defects revealed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li AH,
|
||
Hanchard NA,
|
||
Azamian M,
|
||
D'Alessandro LCA,
|
||
Coban-Akdemir Z,
|
||
Lopez KN,
|
||
Hall NJ,
|
||
Dickerson H,
|
||
Nicosia A,
|
||
Fernbach S,
|
||
Boone PM,
|
||
Gambin T,
|
||
Karaca E,
|
||
Gu S,
|
||
Yuan B,
|
||
Jhangiani SN,
|
||
Doddapaneni H,
|
||
Hu J,
|
||
Dinh H,
|
||
Jayaseelan J,
|
||
Muzny D,
|
||
Lalani S,
|
||
Towbin J,
|
||
Penny D,
|
||
Fraser C,
|
||
Martin J,
|
||
Lupski JR,
|
||
Gibbs RA,
|
||
Boerwinkle E,
|
||
Ware SM,
|
||
Belmont JW</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2019 Apr;27(4):563-573.
|
||
Epub 2019 Jan 8
|
||
doi: 10.1038/s41431-018-0307-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30622330" target="_blank">30622330</a><a href="/pmc/articles/PMC6460585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19606528">Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leigh MW,
|
||
Pittman JE,
|
||
Carson JL,
|
||
Ferkol TW,
|
||
Dell SD,
|
||
Davis SD,
|
||
Knowles MR,
|
||
Zariwala MA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2009 Jul;11(7):473-87.
|
||
doi: 10.1097/GIM.0b013e3181a53562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19606528" target="_blank">19606528</a><a href="/pmc/articles/PMC3739704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17938964">A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wessels MW,
|
||
De Graaf BM,
|
||
Cohen-Overbeek TE,
|
||
Spitaels SE,
|
||
de Groot-de Laat LE,
|
||
Ten Cate FJ,
|
||
Frohn-Mulder IF,
|
||
de Krijger R,
|
||
Bartelings MM,
|
||
Essed N,
|
||
Wladimiroff JW,
|
||
Niermeijer MF,
|
||
Heutink P,
|
||
Oostra BA,
|
||
Dooijes D,
|
||
Bertoli-Avella AM,
|
||
Willems PJ</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2008 Jan;122(6):595-603.
|
||
Epub 2007 Oct 16
|
||
doi: 10.1007/s00439-007-0436-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17938964" target="_blank">17938964</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heterotaxy%2C%20visceral%2C%207%2C%20autosomal%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38708840">The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reilly K,
|
||
Sonner S,
|
||
McCay N,
|
||
Rolnik DL,
|
||
Casey F,
|
||
Seale AN,
|
||
Watson CJ,
|
||
Kan A,
|
||
Lai THT,
|
||
Chung BHY,
|
||
Diderich KEM,
|
||
Srebniak MI,
|
||
Dempsey E,
|
||
Drury S,
|
||
Giordano J,
|
||
Wapner R,
|
||
Kilby MD,
|
||
Chitty LS,
|
||
Mone F</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Jun;44(6-7):821-831.
|
||
Epub 2024 May 6
|
||
doi: 10.1002/pd.6581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38708840" target="_blank">38708840</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heterotaxy%2C%20visceral%2C%207%2C%20autosomal%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C4225217%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225217%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225217%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225217%5bDISCUI%5d" target="_blank">See all (13)</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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616749" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Heterotaxy,%20visceral,%207,%20autosomal" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608416" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=118856[geneid]" target="_blank">View MMP21 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616749" target="_blank">Coriell Institute for Medical Research</a></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://www.malacards.org/card/heterotaxy_visceral_7_autosomal" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Heterotaxy,%20visceral,%207,%20autosomal" 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>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Heterotaxy,%20visceral,%207,%20autosomal" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
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<a href="/pubmed?term=Heterotaxy,%20visceral,%207,%20autosomal%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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