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<meta name="keywords" content="C3151201, acta2, congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy, disease or syndrome, msmds, multisystemic smooth muscle dysfunction syndrome, mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy, smdys, smooth muscle dysfunction syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=462551
|
||
ConceptID=C3151201
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multisystemic smooth muscle dysfunction syndrome<span class="h1sub">(SMDYS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462551</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:">C3151201</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY; SMDYS; SMOOTH MUSCLE DYSFUNCTION SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Multisystemic smooth muscle dysfunction syndrome (782724001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div></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="ACTA2 - ID: 59 - NCBI Gene" href="/gene/59" class="medgenPMinfo">ACTA2</a> (10q23.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013452" target="_blank">MONDO:0013452</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613834" target="_blank">613834</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404463">ORPHA404463</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8076"><div><strong>Vascular dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8076</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.">C0002940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8076">Feature record</a> | <a href="/medgen?term=%22Vascular%20dilatation%22%5BClinical%20Features%5D%20OR%208076%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4415"><div><strong>Patent ductus arteriosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4415</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.">C0013274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4415">Feature record</a> | <a href="/medgen?term=%22Patent%20ductus%20arteriosus%22%5BClinical%20Features%5D%20OR%204415%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_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56525"><div><strong>Thoracic aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56525</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.">C0162872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal localized widening (dilatation) of the thoracic aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56525">Feature record</a> | <a href="/medgen?term=%22Thoracic%20aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%2056525%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_538980"><div><strong>Common carotid artery aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>538980</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.">C0264965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal widening (dilatation) of the common carotid artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/538980">Feature record</a> | <a href="/medgen?term=%22Common%20carotid%20artery%20aneurysm%22%5BClinical%20Features%5D%20OR%20538980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140900"><div><strong>Pulmonary artery dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140900</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.">C0428851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal widening of the diameter of the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140900">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20dilatation%22%5BClinical%20Features%5D%20OR%20140900%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_852900"><div><strong>Aortic arch aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852900</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.">C0856748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal localized widening (dilatation) of the aortic arch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/852900">Feature record</a> | <a href="/medgen?term=%22Aortic%20arch%20aneurysm%22%5BClinical%20Features%5D%20OR%20852900%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</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.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1386760"><div><strong>Dilatation of the cerebral artery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386760</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.">C4476540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a localized dilatation or ballooning of a cerebral artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386760">Feature record</a> | <a href="/medgen?term=%22Dilatation%20of%20the%20cerebral%20artery%22%5BClinical%20Features%5D%20OR%201386760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1614246"><div><strong>Dilated left subclavian artery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614246</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.">C4531247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased caliber of the left subclavian artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1614246">Feature record</a> | <a href="/medgen?term=%22Dilated%20left%20subclavian%20artery%22%5BClinical%20Features%5D%20OR%201614246%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815076"><div><strong>Brachiocephalic artery aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815076</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.">C5706170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal widening (dilatation) of the brachiocephalic artery</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815076">Feature record</a> | <a href="/medgen?term=%22Brachiocephalic%20artery%20aneurysm%22%5BClinical%20Features%5D%20OR%201815076%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_451002"><div><strong>Hypoperistalsis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451002</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.">C0232475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/451002">Feature record</a> | <a href="/medgen?term=%22Hypoperistalsis%22%5BClinical%20Features%5D%20OR%20451002%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_927595"><div><strong>Periventricular white matter hyperintensities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>927595</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.">C4293686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/927595">Feature record</a> | <a href="/medgen?term=%22Periventricular%20white%20matter%20hyperintensities%22%5BClinical%20Features%5D%20OR%20927595%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1690926"><div><strong>Dysgyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1690926</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.">C5139317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1690926">Feature record</a> | <a href="/medgen?term=%22Dysgyria%22%5BClinical%20Features%5D%20OR%201690926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66669"><div><strong>Tachypnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66669</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.">C0231835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very rapid breathing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66669">Feature record</a> | <a href="/medgen?term=%22Tachypnea%22%5BClinical%20Features%5D%20OR%2066669%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10145"><div><strong>Mydriasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10145</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.">C0026961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal dilatation of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10145">Feature record</a> | <a href="/medgen?term=%22Mydriasis%22%5BClinical%20Features%5D%20OR%2010145%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892492"><div><strong>Retinal infarction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892492</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.">C0281967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892492">Feature record</a> | <a href="/medgen?term=%22Retinal%20infarction%22%5BClinical%20Features%5D%20OR%20892492%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_852900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic arch aneurysm</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_1815076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachiocephalic artery aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_538980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Common carotid artery aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1386760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilatation of the cerebral artery</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1614246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated left subclavian artery</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patent ductus arteriosus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery dilatation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracic aortic aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vascular dilatation</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_451002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoperistalsis</a></span></li><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 eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mydriasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal infarction</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1690926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysgyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_927595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular white matter hyperintensities</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachypnea</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151201[DISCUI]&test_type=Clinical" ref="ncbi_uid=462551">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462551" target="_blank" href="/omim/102620">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462551" ref="ncbi_uid=462551">V</a></span></span><span class="TLline">Multisystemic smooth muscle dysfunction syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842273" ref="tree=MeSH" title="MedGen record for Genetic central nervous system and retinal vascular disease">Genetic central nervous system and retinal vascular disease</a></span><ul><li><span class="matched_ds">Multisystemic smooth muscle dysfunction syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=22924&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Multisystemic smooth muscle dysfunction syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35567597">Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaw A,
|
||
Kaw K,
|
||
Hostetler EM,
|
||
Beleza-Meireles A,
|
||
Smith-Collins A,
|
||
Armstrong C,
|
||
Scurr I,
|
||
Cotts T,
|
||
Aatre R,
|
||
Bamshad MJ,
|
||
Earl D,
|
||
Groner A,
|
||
Agre K,
|
||
Raveh Y,
|
||
Kwartler CS,
|
||
Milewicz DM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Aug;188(8):2389-2396.
|
||
Epub 2022 May 14
|
||
doi: 10.1002/ajmg.a.62775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35567597" target="_blank">35567597</a><a href="/pmc/articles/PMC9283281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(multisystemic%20smooth%20muscle%20dysfunction%20syndrome)%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 (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36607831">Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lupo V,
|
||
Di Gregorio MG,
|
||
Mastrogiorgio G,
|
||
Magliozzi M,
|
||
Scapillati ME,
|
||
Maglione V,
|
||
Romanelli E,
|
||
Alegiani C,
|
||
Haass C,
|
||
Novelli A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1111-1118.
|
||
Epub 2023 Jan 6
|
||
doi: 10.1002/ajmg.a.63118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36607831" target="_blank">36607831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30300893">ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuoco JA,
|
||
Busch CM,
|
||
Klein BJ,
|
||
Benko MJ,
|
||
Stein R,
|
||
Nicholson AD,
|
||
Marvin EA</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2018;46(3-4):161-171.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1159/000493863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30300893" target="_blank">30300893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29202781">ACTA2 mutation and postpartum hemorrhage: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper K,
|
||
Brown S</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2017 Dec 4;18(1):143.
|
||
doi: 10.1186/s12881-017-0505-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29202781" target="_blank">29202781</a><a href="/pmc/articles/PMC5715517" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22790431">Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moller HU,
|
||
Fledelius HC,
|
||
Milewicz DM,
|
||
Regalado ES,
|
||
Ostergaard JR</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2012 Sep;96(9):1227-31.
|
||
Epub 2012 Jul 11
|
||
doi: 10.1136/bjophthalmol-2011-301462.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22790431" target="_blank">22790431</a><a href="/pmc/articles/PMC4358743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multisystemic%20smooth%20muscle%20dysfunction%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39367156">Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Nomura S,
|
||
Hara S,
|
||
Thamamongood T,
|
||
Maehara T,
|
||
Nariai T,
|
||
Khairullah S,
|
||
Tan KS,
|
||
Azuma K,
|
||
Chida-Nagai A,
|
||
Furutani Y,
|
||
Hori T,
|
||
Yamaguchi K,
|
||
Kawamata T,
|
||
Roder C,
|
||
Akagawa H</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Oct 4;14(1):22720.
|
||
doi: 10.1038/s41598-024-72043-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39367156" target="_blank">39367156</a><a href="/pmc/articles/PMC11452616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36607831">Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lupo V,
|
||
Di Gregorio MG,
|
||
Mastrogiorgio G,
|
||
Magliozzi M,
|
||
Scapillati ME,
|
||
Maglione V,
|
||
Romanelli E,
|
||
Alegiani C,
|
||
Haass C,
|
||
Novelli A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1111-1118.
|
||
Epub 2023 Jan 6
|
||
doi: 10.1002/ajmg.a.63118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36607831" target="_blank">36607831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36495950">Megacystis Associated With an Underlying ACTA2 Variant and Diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Micke KC,
|
||
Stence NV,
|
||
Meyers ML,
|
||
Chatfield KC,
|
||
Vemulakonda VM</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2023 Mar;173:e17-e19.
|
||
Epub 2022 Dec 7
|
||
doi: 10.1016/j.urology.2022.11.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36495950" target="_blank">36495950</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30300893">ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuoco JA,
|
||
Busch CM,
|
||
Klein BJ,
|
||
Benko MJ,
|
||
Stein R,
|
||
Nicholson AD,
|
||
Marvin EA</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2018;46(3-4):161-171.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1159/000493863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30300893" target="_blank">30300893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26835993">Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeung HH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2016 Jan-Feb;53(1):7-8.
|
||
doi: 10.3928/01913913-20151211-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26835993" target="_blank">26835993</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multisystemic%20smooth%20muscle%20dysfunction%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32093627">High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mc Glacken-Byrne AB,
|
||
Prentice D,
|
||
Roshandel D,
|
||
Brown MR,
|
||
Tuch P,
|
||
Yau KS,
|
||
Sivadorai P,
|
||
Davis MR,
|
||
Laing NG,
|
||
Chen FK</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2020 Feb 24;20(1):68.
|
||
doi: 10.1186/s12886-020-01344-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32093627" target="_blank">32093627</a><a href="/pmc/articles/PMC7038593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30300893">ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuoco JA,
|
||
Busch CM,
|
||
Klein BJ,
|
||
Benko MJ,
|
||
Stein R,
|
||
Nicholson AD,
|
||
Marvin EA</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2018;46(3-4):161-171.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1159/000493863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30300893" target="_blank">30300893</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29575632">Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yetman AT,
|
||
Starr LJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Apr;176(4):1011-1014.
|
||
doi: 10.1002/ajmg.a.38647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29575632" target="_blank">29575632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27481187">Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moreno CA,
|
||
Metze K,
|
||
Lomazi EA,
|
||
Bertola DR,
|
||
Barbosa RH,
|
||
Cosentino V,
|
||
Sobreira N,
|
||
Cavalcanti DP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Nov;170(11):2965-2974.
|
||
Epub 2016 Aug 2
|
||
doi: 10.1002/ajmg.a.37857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27481187" target="_blank">27481187</a><a href="/pmc/articles/PMC5590821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22790431">Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moller HU,
|
||
Fledelius HC,
|
||
Milewicz DM,
|
||
Regalado ES,
|
||
Ostergaard JR</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2012 Sep;96(9):1227-31.
|
||
Epub 2012 Jul 11
|
||
doi: 10.1136/bjophthalmol-2011-301462.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22790431" target="_blank">22790431</a><a href="/pmc/articles/PMC4358743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multisystemic%20smooth%20muscle%20dysfunction%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34087854">Persistent anterior tunica vasculosa lentis in multisystemic smooth muscle dysfunction syndrome: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">She K,
|
||
Liang L,
|
||
Lu F</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Jun 4;100(22):e26094.
|
||
doi: 10.1097/MD.0000000000026094.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34087854" target="_blank">34087854</a><a href="/pmc/articles/PMC8183691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32093627">High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mc Glacken-Byrne AB,
|
||
Prentice D,
|
||
Roshandel D,
|
||
Brown MR,
|
||
Tuch P,
|
||
Yau KS,
|
||
Sivadorai P,
|
||
Davis MR,
|
||
Laing NG,
|
||
Chen FK</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2020 Feb 24;20(1):68.
|
||
doi: 10.1186/s12886-020-01344-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32093627" target="_blank">32093627</a><a href="/pmc/articles/PMC7038593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28328125">Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Logeswaran T,
|
||
Friedburg C,
|
||
Hofmann K,
|
||
Akintuerk H,
|
||
Biskup S,
|
||
Graef M,
|
||
Rad A,
|
||
Weber A,
|
||
Neubauer BA,
|
||
Schranz D,
|
||
Bouvagnet P,
|
||
Lorenz B,
|
||
Hahn A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Apr;173(4):959-965.
|
||
doi: 10.1002/ajmg.a.38102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28328125" target="_blank">28328125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27481187">Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moreno CA,
|
||
Metze K,
|
||
Lomazi EA,
|
||
Bertola DR,
|
||
Barbosa RH,
|
||
Cosentino V,
|
||
Sobreira N,
|
||
Cavalcanti DP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Nov;170(11):2965-2974.
|
||
Epub 2016 Aug 2
|
||
doi: 10.1002/ajmg.a.37857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27481187" target="_blank">27481187</a><a href="/pmc/articles/PMC5590821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multisystemic%20smooth%20muscle%20dysfunction%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151201%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
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<li><a href="/gtr/tests?term=C3151201%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (11)</a></li>
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<li><a href="/gtr/tests?term=C3151201%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (37)</a></li>
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<li><a href="/gtr/tests?term=C3151201%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151201%5bDISCUI%5d" target="_blank">See all (49)</a></total></li>
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