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<meta name="keywords" content="C0002940, aneurysm, aneurysmal dilatation, aneurysmal disease, aneurysms, pathologic function, vascular dilatation, wider than typical opening or gap, 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="Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=8076
ConceptID=C0002940
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vascular dilatation</div></h1><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)&#10;Click for more information.">C0002940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Aneurysm</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Aneurysm (85659009); Aneurysmal dilatation (85659009); Aneurysm (432119003)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002617">HP:0002617</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<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">Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLline">Vascular dilatation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="matched_ds">Vascular dilatation</span><ul><li><span class="TLline"><a href="/medgen/279613" ref="tree=MeSH" title="MedGen record for Aneurysm due to traumatic injury">Aneurysm due to traumatic injury</a></span></li><li><span class="TLline"><a href="/medgen/8078" ref="tree=MeSH" title="MedGen record for Aneurysm, Infected">Aneurysm, Infected</a></span></li><li><span class="TLline"><a href="/medgen/362" ref="tree=MeSH" title="MedGen record for Aortic aneurysm">Aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/56524" ref="tree=MeSH" title="MedGen record for Abdominal aortic aneurysm">Abdominal aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/1634365" ref="tree=MeSH" title="MedGen record for Asymmetric abdominal aortic aneurysm">Asymmetric abdominal aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/137066" ref="tree=MeSH" title="MedGen record for Dissecting Abdominal Aortic Aneurysm">Dissecting Abdominal Aortic Aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1638194" ref="tree=MeSH" title="MedGen record for Fusiform abdominal aortic aneurysm">Fusiform abdominal aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/82690" ref="tree=MeSH" title="MedGen record for Ruptured abdominal aortic aneurysm">Ruptured abdominal aortic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1630964" ref="tree=MeSH" title="MedGen record for Saccular abdominal aortic aneurysm">Saccular abdominal aortic aneurysm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8151" ref="tree=MeSH" title="MedGen record for Aortic rupture">Aortic rupture</a></span></li><li><span class="TLline"><a href="/medgen/8439" ref="tree=MeSH" title="MedGen record for Dissecting aortic dilatation">Dissecting aortic dilatation</a></span><ul><li><span class="TLline"><a href="/medgen/196449" ref="tree=MeSH" title="MedGen record for Thoracic aortic dissection">Thoracic aortic dissection</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/97904" ref="tree=MeSH" title="MedGen record for ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA">ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA</a></span></li><li><span class="TLline"><a href="/medgen/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462437" ref="tree=MeSH" title="MedGen record for Aneurysm-osteoarthritis syndrome">Aneurysm-osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646567" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 1">Loeys-Dietz syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382398" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 2">Loeys-Dietz syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766676" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 4">Loeys-Dietz syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/395828" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 1">Loeys-Dietz Syndrome Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152854" ref="tree=MeSH" title="MedGen record for Ruptured aortic aneurysm">Ruptured aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/82689" ref="tree=MeSH" title="MedGen record for Thoracic aortic aneurysm which has ruptured">Thoracic aortic aneurysm which has ruptured</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56525" ref="tree=MeSH" title="MedGen record for Thoracic aortic aneurysm">Thoracic aortic aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/852900" ref="tree=MeSH" title="MedGen record for Aortic arch aneurysm">Aortic arch aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/720712" ref="tree=MeSH" title="MedGen record for Aortic root aneurysm">Aortic root aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/163631" ref="tree=MeSH" title="MedGen record for Ascending tubular aorta aneurysm">Ascending tubular aorta aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/730531" ref="tree=MeSH" title="MedGen record for Descending thoracic aorta aneurysm">Descending thoracic aorta aneurysm</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/8077" ref="tree=MeSH" title="MedGen record for Arterial dissection">Arterial dissection</a></span><ul><li><span class="TLline"><a href="/medgen/137904" ref="tree=MeSH" title="MedGen record for Dissection of vertebral artery">Dissection of vertebral artery</a></span></li><li><span class="TLline"><a href="/medgen/377701" ref="tree=MeSH" title="MedGen record for Idiopathic spontaneous coronary artery dissection">Idiopathic spontaneous coronary artery dissection</a></span></li><li><span class="TLline"><a href="/medgen/199743" ref="tree=MeSH" title="MedGen record for Internal carotid artery dissection">Internal carotid artery dissection</a></span><ul><li><span class="TLline"><a href="/medgen/870810" ref="tree=MeSH" title="MedGen record for Extracranial internal carotid artery dissection">Extracranial internal carotid artery dissection</a></span></li><li><span class="TLline"><a href="/medgen/868618" ref="tree=MeSH" title="MedGen record for Intracranial internal carotid artery dissection">Intracranial internal carotid artery dissection</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/476507" ref="tree=MeSH" title="MedGen record for Significant Arterial Dissection">Significant Arterial Dissection</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/574052" ref="tree=MeSH" title="MedGen record for Arteriovenous fistula aneurysm">Arteriovenous fistula aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/578925" ref="tree=MeSH" title="MedGen record for Arteriovenous graft aneurysm">Arteriovenous graft aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1815076" ref="tree=MeSH" title="MedGen record for Brachiocephalic artery aneurysm">Brachiocephalic artery aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/214637" ref="tree=MeSH" title="MedGen record for Cerebral aneurysm">Cerebral aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/220937" ref="tree=MeSH" title="MedGen record for Cerebral arterial aneurysm">Cerebral arterial aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/768592" ref="tree=MeSH" title="MedGen record for Cerebral Venous Aneurysm">Cerebral Venous Aneurysm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3622" ref="tree=MeSH" title="MedGen record for Coronary aneurysm">Coronary aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/1393082" ref="tree=MeSH" title="MedGen record for Dilatation of the ventricular cavity">Dilatation of the ventricular cavity</a></span></li><li><span class="TLline"><a href="/medgen/42360" ref="tree=MeSH" title="MedGen record for Heart aneurysm">Heart aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/58002" ref="tree=MeSH" title="MedGen record for Iliac artery aneurysm">Iliac artery aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/2960" ref="tree=MeSH" title="MedGen record for Intracranial Aneurysm">Intracranial Aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/196706" ref="tree=MeSH" title="MedGen record for Brain aneurysm">Brain aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/14078" ref="tree=MeSH" title="MedGen record for Berry aneurysm">Berry aneurysm</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/87161" ref="tree=MeSH" title="MedGen record for Microaneurysm">Microaneurysm</a></span></li><li><span class="TLline"><a href="/medgen/39111" ref="tree=MeSH" title="MedGen record for Mycotic aneurysm">Mycotic aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/264185" ref="tree=MeSH" title="MedGen record for Persistent flow of blood into aneurysm sac following endovascular insertion of stent graft">Persistent flow of blood into aneurysm sac following endovascular insertion of stent graft</a></span></li><li><span class="TLline"><a href="/medgen/307134" ref="tree=MeSH" title="MedGen record for Pseudoaneurysm">Pseudoaneurysm</a></span></li><li><span class="TLline"><a href="/medgen/602318" ref="tree=MeSH" title="MedGen record for Retinal arterial macroaneurysms">Retinal arterial macroaneurysms</a></span></li><li><span class="TLline"><a href="/medgen/58001" ref="tree=MeSH" title="MedGen record for Ruptured aneurysm">Ruptured aneurysm</a></span></li><li><span class="TLline"><a href="/medgen/140271" ref="tree=MeSH" title="MedGen record for Ventricular aneurysm">Ventricular aneurysm</a></span><ul><li><span class="TLline"><a href="/medgen/636016" ref="tree=MeSH" title="MedGen record for Left ventricular aneurysm">Left ventricular aneurysm</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_4844"><div><strong>Gastric mucosal hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4844</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)&#10;Click for more information.">C0017155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4844">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_59798"><div><strong>Johanson-Blizzard syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59798</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)&#10;Click for more information.">C0175692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder characterized by poor growth, impaired intellectual development, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/59798">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_140803"><div><strong>Hereditary benign telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140803</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)&#10;Click for more information.">C0406502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare skin disease characterized by widespread cutaneous telangiectases usually &amp;#64257;rst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or con&amp;#64258;uent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140803">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_234648"><div><strong>Interventricular septum aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234648</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)&#10;Click for more information.">C1387721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/234648">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_307142"><div><strong>Orofaciodigital syndrome I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>307142</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)&#10;Click for more information.">C1510460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/307142">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_323460"><div><strong>Currarino triad</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323460</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)&#10;Click for more information.">C1531773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic (summary by Wang et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/323460">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_301647"><div><strong>Duane-radial ray syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301647</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)&#10;Click for more information.">C1623209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/301647">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376231"><div><strong>PHACE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376231</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)&#10;Click for more information.">C1847874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376231">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336376"><div><strong>Oculogastrointestinal muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336376</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)&#10;Click for more information.">C1848586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336376">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376398"><div><strong>Vascular hyalinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376398</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)&#10;Click for more information.">C1848590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376398">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341751"><div><strong>Dandy-Walker malformation-postaxial polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341751</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)&#10;Click for more information.">C1857351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341751">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346584"><div><strong>Ventriculomegaly-cystic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346584</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)&#10;Click for more information.">C1857423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ventriculomegaly with cystic kidney disease (VMCKD) is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).&#13; See also 602200 for a disorder characterized by ventriculomegaly and defects of the radius and kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346584">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400843"><div><strong>Ventriculomegaly with defects of the radius and kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400843</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)&#10;Click for more information.">C1865780</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/400843">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_398476"><div><strong>Waardenburg syndrome type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398476</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)&#10;Click for more information.">C2700405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia.&#13; Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/398476">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_412871"><div><strong>Congenital generalized lipodystrophy type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412871</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)&#10;Click for more information.">C2750069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/412871">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_413221"><div><strong>Autosomal recessive spondylometaphyseal dysplasia, Megarbane type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413221</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)&#10;Click for more information.">C2750075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/413221">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_442566"><div><strong>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442566</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)&#10;Click for more information.">C2750804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/442566">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462551"><div><strong>Multisystemic smooth muscle dysfunction syndrome</strong><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)&#10;Click for more information.">C3151201</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">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).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462551">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766843"><div><strong>Peroxisome biogenesis disorder 3A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766843</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)&#10;Click for more information.">C3553929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).&#13; For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.&#13; Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see 214100.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766843">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_811346"><div><strong>Meckel syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811346</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)&#10;Click for more information.">C3714506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver.&#13; Genetic Heterogeneity of Meckel Syndrome&#13; See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811346">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816731"><div><strong>Atrial standstill 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816731</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3810401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).&#13; For a discussion of genetic heterogeneity of atrial standstill, see ATRST1 (108770).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816731">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_905171"><div><strong>Senior-Loken syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905171</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)&#10;Click for more information.">C4225376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/905171">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_935013"><div><strong>Chromosome 19q13.11 deletion syndrome, proximal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>935013</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)&#10;Click for more information.">C4311046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Proximal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability with poor speech, feeding difficulties, and autistic features. Some patients may have additional features, including renal tract anomalies (summary by Caubit et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/935013">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1612119"><div><strong>Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1612119</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)&#10;Click for more information.">C4539968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1612119">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1675672"><div><strong>Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675672</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)&#10;Click for more information.">C5193040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1675672">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1769861"><div><strong>COACH syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1769861</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)&#10;Click for more information.">C5435651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1769861">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1814491"><div><strong>Dilated cardiomyopathy 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814491</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)&#10;Click for more information.">C5700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1814491">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial standstill 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spondylometaphyseal dysplasia, Megarbane type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_935013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 19q13.11 deletion syndrome, proximal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1769861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">COACH syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1612119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412871" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Currarino triad</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dandy-Walker malformation-postaxial polydactyly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1814491" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duane-radial ray syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastric mucosal hypertrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary benign telangiectasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_234648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interventricular septum aneurysm</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Johanson-Blizzard syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multisystemic smooth muscle dysfunction syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculogastrointestinal muscular dystrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_307142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 3A (Zellweger)</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PHACE syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Senior-Loken syndrome 8</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vascular hyalinosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly with defects of the radius and kidney</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly-cystic kidney disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 2E</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38823946">ACR Appropriateness Criteria® Orbital Imaging and Vision Loss-Child.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Expert Panel on Pediatric Imaging,
Maheshwari M,
Ho ML,
Bosemani T,
Dahmoush H,
Fredrick D,
Guimaraes CV,
Gulko E,
Jaimes C,
Joseph MM,
Kaplan SL,
Miyamoto RC,
Nadel HR,
Partap S,
Pfeifer CM,
Pruthi S</span><br />
<span class="medgenPMjournal">J Am Coll Radiol</span>
2024 Jun;21(6S):S219-S236.
doi: 10.1016/j.jacr.2024.02.023.
<span class="bold">PMID: </span><a href="/pubmed/38823946" target="_blank">38823946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35934599">Intractable otitis media - Pathogenesis and treatment of Eosinophilic otitis media (EOM) and otitis media with Antineutrophil cytoplasmic antibody (ANCA) -associated vasculitis (OMAAV).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida N</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
2023 Apr;50(2):171-179.
Epub 2022 Aug 5
doi: 10.1016/j.anl.2022.07.005.
<span class="bold">PMID: </span><a href="/pubmed/35934599" target="_blank">35934599</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25649047">Proposed management algorithm for severe hypoxemia after liver transplantation in the hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nayyar D,
Man HS,
Granton J,
Lilly LB,
Gupta S</span><br />
<span class="medgenPMjournal">Am J Transplant</span>
2015 Apr;15(4):903-13.
Epub 2015 Feb 3
doi: 10.1111/ajt.13177.
<span class="bold">PMID: </span><a href="/pubmed/25649047" target="_blank">25649047</a><a href="/pmc/articles/PMC5132094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22vascular%20dilatation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (12)</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/35907495">LKB1: An emerging therapeutic target for cardiovascular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Molaei A,
Molaei E,
Sadeghnia H,
Hayes AW,
Karimi G</span><br />
<span class="medgenPMjournal">Life Sci</span>
2022 Oct 1;306:120844.
Epub 2022 Jul 27
doi: 10.1016/j.lfs.2022.120844.
<span class="bold">PMID: </span><a href="/pubmed/35907495" target="_blank">35907495</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29599604">Review article: Update on current and emergent data on hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soulaidopoulos S,
Cholongitas E,
Giannakoulas G,
Vlachou M,
Goulis I</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2018 Mar 28;24(12):1285-1298.
doi: 10.3748/wjg.v24.i12.1285.
<span class="bold">PMID: </span><a href="/pubmed/29599604" target="_blank">29599604</a><a href="/pmc/articles/PMC5871824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24627594">Cirrhosis and hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tumgor G</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2014 Mar 14;20(10):2586-94.
doi: 10.3748/wjg.v20.i10.2586.
<span class="bold">PMID: </span><a href="/pubmed/24627594" target="_blank">24627594</a><a href="/pmc/articles/PMC3949267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17433020">Left atrial volume: a novel predictor of hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zamirian M,
Aslani A,
Shahrzad S</span><br />
<span class="medgenPMjournal">Am J Gastroenterol</span>
2007 Jul;102(7):1392-6.
Epub 2007 Apr 13
doi: 10.1111/j.1572-0241.2007.01228.x.
<span class="bold">PMID: </span><a href="/pubmed/17433020" target="_blank">17433020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17414434">Psoriasiform keratosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walsh SN,
Hurt MA,
Santa Cruz DJ</span><br />
<span class="medgenPMjournal">Am J Dermatopathol</span>
2007 Apr;29(2):137-40.
doi: 10.1097/01.dad.0000246177.63145.b3.
<span class="bold">PMID: </span><a href="/pubmed/17414434" target="_blank">17414434</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vascular%20dilatation%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 (129)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30269997">Hepatopulmonary syndrome-attributed extreme hypoxemia and polycythemia revealing liver cirrhosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nuzzo A,
Dautry R,
Francoz C,
Logeart D,
Mégarbane B</span><br />
<span class="medgenPMjournal">Am J Emerg Med</span>
2019 Jan;37(1):175.e1-175.e2.
Epub 2018 Sep 26
doi: 10.1016/j.ajem.2018.09.044.
<span class="bold">PMID: </span><a href="/pubmed/30269997" target="_blank">30269997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25732713">Hepatopulmonary Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lv Y,
Fan D</span><br />
<span class="medgenPMjournal">Dig Dis Sci</span>
2015 Jul;60(7):1914-23.
Epub 2015 Mar 3
doi: 10.1007/s10620-015-3593-0.
<span class="bold">PMID: </span><a href="/pubmed/25732713" target="_blank">25732713</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22447256">Hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Machicao VI,
Fallon MB</span><br />
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
2012 Feb;33(1):11-6.
Epub 2012 Mar 23
doi: 10.1055/s-0032-1301730.
<span class="bold">PMID: </span><a href="/pubmed/22447256" target="_blank">22447256</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11091801">Mechanisms underlying urticaria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Powell J,
Powell S</span><br />
<span class="medgenPMjournal">Hosp Med</span>
2000 Jul;61(7):470-4.
doi: 10.12968/hosp.2000.61.7.1376.
<span class="bold">PMID: </span><a href="/pubmed/11091801" target="_blank">11091801</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9794183">Portal-hypertensive gastropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toyonaga A,
Iwao T</span><br />
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
1998 Sep;13(9):865-77.
doi: 10.1111/j.1440-1746.1998.tb00754.x.
<span class="bold">PMID: </span><a href="/pubmed/9794183" target="_blank">9794183</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vascular%20dilatation%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 (139)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/22447256">Hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Machicao VI,
Fallon MB</span><br />
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
2012 Feb;33(1):11-6.
Epub 2012 Mar 23
doi: 10.1055/s-0032-1301730.
<span class="bold">PMID: </span><a href="/pubmed/22447256" target="_blank">22447256</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21563902">High-dose insulin therapy in beta-blocker and calcium channel-blocker poisoning.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Engebretsen KM,
Kaczmarek KM,
Morgan J,
Holger JS</span><br />
<span class="medgenPMjournal">Clin Toxicol (Phila)</span>
2011 Apr;49(4):277-83.
doi: 10.3109/15563650.2011.582471.
<span class="bold">PMID: </span><a href="/pubmed/21563902" target="_blank">21563902</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19665743">Plus disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Davitt BV,
Wallace DK</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2009 Nov-Dec;54(6):663-70.
Epub 2009 Aug 8
doi: 10.1016/j.survophthal.2009.02.021.
<span class="bold">PMID: </span><a href="/pubmed/19665743" target="_blank">19665743</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9794183">Portal-hypertensive gastropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toyonaga A,
Iwao T</span><br />
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
1998 Sep;13(9):865-77.
doi: 10.1111/j.1440-1746.1998.tb00754.x.
<span class="bold">PMID: </span><a href="/pubmed/9794183" target="_blank">9794183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5118826">Histological findings in pseudomembranous trigonitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Henry L,
Fox M</span><br />
<span class="medgenPMjournal">J Clin Pathol</span>
1971 Oct;24(7):605-8.
doi: 10.1136/jcp.24.7.605.
<span class="bold">PMID: </span><a href="/pubmed/5118826" target="_blank">5118826</a><a href="/pmc/articles/PMC477104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vascular%20dilatation%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 (77)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/24627594">Cirrhosis and hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tumgor G</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2014 Mar 14;20(10):2586-94.
doi: 10.3748/wjg.v20.i10.2586.
<span class="bold">PMID: </span><a href="/pubmed/24627594" target="_blank">24627594</a><a href="/pmc/articles/PMC3949267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17433020">Left atrial volume: a novel predictor of hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zamirian M,
Aslani A,
Shahrzad S</span><br />
<span class="medgenPMjournal">Am J Gastroenterol</span>
2007 Jul;102(7):1392-6.
Epub 2007 Apr 13
doi: 10.1111/j.1572-0241.2007.01228.x.
<span class="bold">PMID: </span><a href="/pubmed/17433020" target="_blank">17433020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17414434">Psoriasiform keratosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walsh SN,
Hurt MA,
Santa Cruz DJ</span><br />
<span class="medgenPMjournal">Am J Dermatopathol</span>
2007 Apr;29(2):137-40.
doi: 10.1097/01.dad.0000246177.63145.b3.
<span class="bold">PMID: </span><a href="/pubmed/17414434" target="_blank">17414434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11396324">Hepatopulmonary syndrome: clinical perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mukhopadhya A,
Chandy GM</span><br />
<span class="medgenPMjournal">Natl Med J India</span>
2001 Mar-Apr;14(2):84-7.
<span class="bold">PMID: </span><a href="/pubmed/11396324" target="_blank">11396324</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9951913">Evaluation of contrast echocardiography and lung perfusion scan in detecting intrapulmonary vascular dilatation in normoxemic patients with early liver cirrhosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mimidis KP,
Vassilakos PI,
Mastorakou AN,
Spiropoulos KV,
Lambropoulou-Karatza CA,
Thomopoulos KC,
Tepetes KN,
Nikolopoulou VN</span><br />
<span class="medgenPMjournal">Hepatogastroenterology</span>
1998 Nov-Dec;45(24):2303-7.
<span class="bold">PMID: </span><a href="/pubmed/9951913" target="_blank">9951913</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vascular%20dilatation%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 (59)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35040682">Ado-trastuzumab emtansine associated spider telangiectasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gursoy P,
Acar A,
Acikalin T</span><br />
<span class="medgenPMjournal">J Oncol Pharm Pract</span>
2022 Jun;28(4):986-988.
Epub 2022 Jan 18
doi: 10.1177/10781552211073878.
<span class="bold">PMID: </span><a href="/pubmed/35040682" target="_blank">35040682</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25732713">Hepatopulmonary Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lv Y,
Fan D</span><br />
<span class="medgenPMjournal">Dig Dis Sci</span>
2015 Jul;60(7):1914-23.
Epub 2015 Mar 3
doi: 10.1007/s10620-015-3593-0.
<span class="bold">PMID: </span><a href="/pubmed/25732713" target="_blank">25732713</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24627594">Cirrhosis and hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tumgor G</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2014 Mar 14;20(10):2586-94.
doi: 10.3748/wjg.v20.i10.2586.
<span class="bold">PMID: </span><a href="/pubmed/24627594" target="_blank">24627594</a><a href="/pmc/articles/PMC3949267" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17433020">Left atrial volume: a novel predictor of hepatopulmonary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zamirian M,
Aslani A,
Shahrzad S</span><br />
<span class="medgenPMjournal">Am J Gastroenterol</span>
2007 Jul;102(7):1392-6.
Epub 2007 Apr 13
doi: 10.1111/j.1572-0241.2007.01228.x.
<span class="bold">PMID: </span><a href="/pubmed/17433020" target="_blank">17433020</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9951913">Evaluation of contrast echocardiography and lung perfusion scan in detecting intrapulmonary vascular dilatation in normoxemic patients with early liver cirrhosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mimidis KP,
Vassilakos PI,
Mastorakou AN,
Spiropoulos KV,
Lambropoulou-Karatza CA,
Thomopoulos KC,
Tepetes KN,
Nikolopoulou VN</span><br />
<span class="medgenPMjournal">Hepatogastroenterology</span>
1998 Nov-Dec;45(24):2303-7.
<span class="bold">PMID: </span><a href="/pubmed/9951913" target="_blank">9951913</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vascular%20dilatation%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 (103)</a></div></div>
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<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/27939421">Efficacy and safety of "Yahom" as a traditional Thai herbal therapy: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chootip K,
Chaiyakunapruk N,
Soonthornchareonnon N,
Scholfield CN,
Fuangchan A</span><br />
<span class="medgenPMjournal">J Ethnopharmacol</span>
2017 Jan 20;196:110-123.
Epub 2016 Dec 6
doi: 10.1016/j.jep.2016.12.002.
<span class="bold">PMID: </span><a href="/pubmed/27939421" target="_blank">27939421</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vascular%20dilatation%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>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Vascular%20dilatation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22vascular%20dilatation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Vascular%20dilatation%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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