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<meta name="keywords" content="C4747646, disease or syndrome, gjc2, gjc2 hereditary lymphedema, hereditary lymphedema caused by mutation in gjc2, lmph1c, lmph1c, formerly, lmphm3, lymphatic malformation 3, lymphedema, hereditary, 1c, lymphedema, hereditary, ic, lymphedema, hereditary, ic, formerly, lymphedema, hereditary, type 1c, 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="Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1652857
|
||
ConceptID=C4747646
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lymphatic malformation 3<span class="h1sub">(LMPHM3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1652857</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:">C4747646</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>LMPHM3; Lymphedema, hereditary, IC</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="GJC2 - ID: 57165 - NCBI Gene" href="/gene/57165" class="medgenPMinfo">GJC2</a> (1q42.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013278" target="_blank">MONDO:0013278</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613480" target="_blank">613480</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [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">
|
||
<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_40174"><div><strong>Cellulitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40174</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.">C0007642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bacterial infection and inflammation of the skin und subcutaneous tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40174">Feature record</a> | <a href="/medgen?term=%22Cellulitis%22%5BClinical%20Features%5D%20OR%2040174%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377848"><div><strong>Recurrent skin infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377848</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.">C1853193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infections of the skin that happen multiple times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377848">Feature record</a> | <a href="/medgen?term=%22Recurrent%20skin%20infections%22%5BClinical%20Features%5D%20OR%20377848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6155"><div><strong>Lymphedema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6155</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.">C0024236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Localized fluid retention and tissue swelling caused by a compromised lymphatic system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6155">Feature record</a> | <a href="/medgen?term=%22Lymphedema%22%5BClinical%20Features%5D%20OR%206155%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphedema</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent skin infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cellulitis</a></span></li></ul></li></ul></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/38038236">Use of octreotide for the treatment of protein-losing enteropathy in dogs: Retrospective study of 18 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jablonski SA,
|
||
Mazepa ASW,
|
||
Tolbert MK</span><br />
|
||
<span class="medgenPMjournal">J Vet Intern Med</span>
|
||
2024 Jan-Feb;38(1):145-151.
|
||
Epub 2023 Dec 1
|
||
doi: 10.1111/jvim.16966.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38038236" target="_blank">38038236</a><a href="/pmc/articles/PMC10800202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31272925">Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann N,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Oct;67:74-89.
|
||
Epub 2019 Jun 30
|
||
doi: 10.1016/j.parkreldis.2019.06.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31272925" target="_blank">31272925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21742796">Normalization of the vasculature for treatment of cancer and other diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goel S,
|
||
Duda DG,
|
||
Xu L,
|
||
Munn LL,
|
||
Boucher Y,
|
||
Fukumura D,
|
||
Jain RK</span><br />
|
||
<span class="medgenPMjournal">Physiol Rev</span>
|
||
2011 Jul;91(3):1071-121.
|
||
doi: 10.1152/physrev.00038.2010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21742796" target="_blank">21742796</a><a href="/pmc/articles/PMC3258432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(lymphatic%20malformation%203)%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 (175)</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/38382530">Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin D,
|
||
Kim CN,
|
||
Ross J,
|
||
Hennick KM,
|
||
Wu SR,
|
||
Paranjape N,
|
||
Leonard R,
|
||
Wang JC,
|
||
Keefe MG,
|
||
Pavlovic BJ,
|
||
Donohue KC,
|
||
Moreau C,
|
||
Wigdor EM,
|
||
Larson HH,
|
||
Allen DE,
|
||
Cadwell CR,
|
||
Bhaduri A,
|
||
Popova G,
|
||
Bearden CE,
|
||
Pollen AA,
|
||
Jacquemont S,
|
||
Sanders SJ,
|
||
Haussler D,
|
||
Wiita AP,
|
||
Frost NA,
|
||
Sohal VS,
|
||
Nowakowski TJ</span><br />
|
||
<span class="medgenPMjournal">Cell Stem Cell</span>
|
||
2024 Mar 7;31(3):421-432.e8.
|
||
Epub 2024 Feb 20
|
||
doi: 10.1016/j.stem.2024.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38382530" target="_blank">38382530</a><a href="/pmc/articles/PMC10939828" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35039989">Neurological manifestation of 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bayat M,
|
||
Bayat A</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Mar;43(3):1695-1700.
|
||
Epub 2022 Jan 18
|
||
doi: 10.1007/s10072-021-05825-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35039989" target="_blank">35039989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845825">22q11.2 duplications: Expanding the clinical presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartik LE,
|
||
Hughes SS,
|
||
Tracy M,
|
||
Feldt MM,
|
||
Zhang L,
|
||
Arganbright J,
|
||
Kaye A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Mar;188(3):779-787.
|
||
Epub 2021 Nov 29
|
||
doi: 10.1002/ajmg.a.62577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845825" target="_blank">34845825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27514588">Nonmalignant Adult Thoracic Lymphatic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itkin M,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2016 Sep;37(3):409-20.
|
||
doi: 10.1016/j.ccm.2016.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27514588" target="_blank">27514588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17562586">Velocardiofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gothelf D</span><br />
|
||
<span class="medgenPMjournal">Child Adolesc Psychiatr Clin N Am</span>
|
||
2007 Jul;16(3):677-93.
|
||
doi: 10.1016/j.chc.2007.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17562586" target="_blank">17562586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%203%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 (944)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38540380">Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cillo F,
|
||
Coppola E,
|
||
Habetswallner F,
|
||
Cecere F,
|
||
Pignata L,
|
||
Toriello E,
|
||
De Rosa A,
|
||
Grilli L,
|
||
Ammendola A,
|
||
Salerno P,
|
||
Romano R,
|
||
Cirillo E,
|
||
Merla G,
|
||
Riccio A,
|
||
Pignata C,
|
||
Giardino G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Feb 29;15(3)
|
||
doi: 10.3390/genes15030321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38540380" target="_blank">38540380</a><a href="/pmc/articles/PMC10969806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36327088">Review of diagnosis, differential diagnosis, and management of retroperitoneal lymphangioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoang VT,
|
||
Nguyen MD,
|
||
Van HAT,
|
||
Hoang DT</span><br />
|
||
<span class="medgenPMjournal">Jpn J Radiol</span>
|
||
2023 Mar;41(3):283-301.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1007/s11604-022-01356-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36327088" target="_blank">36327088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845825">22q11.2 duplications: Expanding the clinical presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartik LE,
|
||
Hughes SS,
|
||
Tracy M,
|
||
Feldt MM,
|
||
Zhang L,
|
||
Arganbright J,
|
||
Kaye A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Mar;188(3):779-787.
|
||
Epub 2021 Nov 29
|
||
doi: 10.1002/ajmg.a.62577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845825" target="_blank">34845825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28004970">Intraabdominal Lymphatic Malformations: Pearls and Pitfalls of Diagnosis and Differential Diagnoses in Pediatric Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Francavilla ML,
|
||
White CL,
|
||
Oliveri B,
|
||
Lee EY,
|
||
Restrepo R</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2017 Mar;208(3):637-649.
|
||
Epub 2016 Dec 22
|
||
doi: 10.2214/AJR.16.17008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28004970" target="_blank">28004970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22595720">Vascular anomalies in pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fevurly RD,
|
||
Fishman SJ</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2012 Jun;92(3):769-800, x.
|
||
Epub 2012 Apr 26
|
||
doi: 10.1016/j.suc.2012.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22595720" target="_blank">22595720</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%203%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 (982)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34166070">Genetic Basis and Therapies for Vascular Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Queisser A,
|
||
Seront E,
|
||
Boon LM,
|
||
Vikkula M</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2021 Jun 25;129(1):155-173.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1161/CIRCRESAHA.121.318145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34166070" target="_blank">34166070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31272925">Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann N,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Oct;67:74-89.
|
||
Epub 2019 Jun 30
|
||
doi: 10.1016/j.parkreldis.2019.06.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31272925" target="_blank">31272925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27514587">Plastic Bronchitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubin BK</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2016 Sep;37(3):405-8.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.ccm.2016.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27514587" target="_blank">27514587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20236866">Thymus transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markert ML,
|
||
Devlin BH,
|
||
McCarthy EA</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2010 May;135(2):236-46.
|
||
Epub 2010 Mar 16
|
||
doi: 10.1016/j.clim.2010.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20236866" target="_blank">20236866</a><a href="/pmc/articles/PMC3646264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17223879">Taxane-induced scleroderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh M,
|
||
Yanaba K,
|
||
Kobayashi T,
|
||
Nakagawa H</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2007 Feb;156(2):363-7.
|
||
doi: 10.1111/j.1365-2133.2006.07597.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17223879" target="_blank">17223879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%203%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 (385)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22595720">Vascular anomalies in pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fevurly RD,
|
||
Fishman SJ</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2012 Jun;92(3):769-800, x.
|
||
Epub 2012 Apr 26
|
||
doi: 10.1016/j.suc.2012.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22595720" target="_blank">22595720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17317485">Vascular malformations: Part I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garzon MC,
|
||
Huang JT,
|
||
Enjolras O,
|
||
Frieden IJ</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2007 Mar;56(3):353-70; quiz 371-4.
|
||
doi: 10.1016/j.jaad.2006.05.069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17317485" target="_blank">17317485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17223879">Taxane-induced scleroderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh M,
|
||
Yanaba K,
|
||
Kobayashi T,
|
||
Nakagawa H</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2007 Feb;156(2):363-7.
|
||
doi: 10.1111/j.1365-2133.2006.07597.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17223879" target="_blank">17223879</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16858253">Combined immune deficiencies in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobrynski LJ</span><br />
|
||
<span class="medgenPMjournal">J Infus Nurs</span>
|
||
2006 Jul-Aug;29(4):206-13.
|
||
doi: 10.1097/00129804-200607000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16858253" target="_blank">16858253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11339370">Prenatal diagnosis of the 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Driscoll DA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2001 Jan-Feb;3(1):14-8.
|
||
doi: 10.1097/00125817-200101000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11339370" target="_blank">11339370</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%203%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 (485)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37730998">Transcriptional linkage analysis with in vivo AAV-Perturb-seq.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santinha AJ,
|
||
Klingler E,
|
||
Kuhn M,
|
||
Farouni R,
|
||
Lagler S,
|
||
Kalamakis G,
|
||
Lischetti U,
|
||
Jabaudon D,
|
||
Platt RJ</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2023 Oct;622(7982):367-375.
|
||
Epub 2023 Sep 20
|
||
doi: 10.1038/s41586-023-06570-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37730998" target="_blank">37730998</a><a href="/pmc/articles/PMC10567566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37258294">The Subtlety of 22q11.2 Deletion Syndrome in a Preterm Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cline L,
|
||
Aranda P,
|
||
Jnah A</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2023 Jun 1;42(3):137-144.
|
||
doi: 10.1891/NN-2022-0023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37258294" target="_blank">37258294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34524406">Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maruani A,
|
||
Tavernier E,
|
||
Boccara O,
|
||
Mazereeuw-Hautier J,
|
||
Leducq S,
|
||
Bessis D,
|
||
Guibaud L,
|
||
Vabres P,
|
||
Carmignac V,
|
||
Mallet S,
|
||
Barbarot S,
|
||
Chiaverini C,
|
||
Droitcourt C,
|
||
Bursztejn AC,
|
||
Lengellé C,
|
||
Woillard JB,
|
||
Herbreteau D,
|
||
Le Touze A,
|
||
Joly A,
|
||
Léauté-Labrèze C,
|
||
Powell J,
|
||
Bourgoin H,
|
||
Gissot V,
|
||
Giraudeau B,
|
||
Morel B</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2021 Nov 1;157(11):1289-1298.
|
||
doi: 10.1001/jamadermatol.2021.3459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34524406" target="_blank">34524406</a><a href="/pmc/articles/PMC8444064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30701863">Primary lymphangiectasia of the gastrointestinal tract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esedov EM,
|
||
Abasova AS,
|
||
Akhmedova FD,
|
||
Musaeva LN</span><br />
|
||
<span class="medgenPMjournal">Ter Arkh</span>
|
||
2018 Apr 19;90(3):96-98.
|
||
doi: 10.26442/terarkh201890396-98.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30701863" target="_blank">30701863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17562583">Social phenotypes in neurogenetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feinstein C,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">Child Adolesc Psychiatr Clin N Am</span>
|
||
2007 Jul;16(3):631-47.
|
||
doi: 10.1016/j.chc.2007.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17562583" target="_blank">17562583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%203%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 (544)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38050953">Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duckett KA,
|
||
Poupore NS,
|
||
Carroll WW,
|
||
Pecha PP</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2024 Jun;134(6):2551-2561.
|
||
Epub 2023 Dec 5
|
||
doi: 10.1002/lary.31181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38050953" target="_blank">38050953</a><a href="/pmc/articles/PMC11078621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729052">Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boot E,
|
||
Óskarsdóttir S,
|
||
Loo JCY,
|
||
Crowley TB,
|
||
Orchanian-Cheff A,
|
||
Andrade DM,
|
||
Arganbright JM,
|
||
Castelein RM,
|
||
Cserti-Gazdewich C,
|
||
de Reuver S,
|
||
Fiksinski AM,
|
||
Klingberg G,
|
||
Lang AE,
|
||
Mascarenhas MR,
|
||
Moss EM,
|
||
Nowakowska BA,
|
||
Oechslin E,
|
||
Palmer L,
|
||
Repetto GM,
|
||
Reyes NGD,
|
||
Schneider M,
|
||
Silversides C,
|
||
Sullivan KE,
|
||
Swillen A,
|
||
van Amelsvoort TAMJ,
|
||
Van Batavia JP,
|
||
Vingerhoets C,
|
||
McDonald-McGinn DM,
|
||
Bassett AS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Mar;25(3):100344.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1016/j.gim.2022.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729052" target="_blank">36729052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33053612">Tubal flushing for subfertility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang R,
|
||
Watson A,
|
||
Johnson N,
|
||
Cheung K,
|
||
Fitzgerald C,
|
||
Mol BWJ,
|
||
Mohiyiddeen L</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Oct 15;10(10):CD003718.
|
||
doi: 10.1002/14651858.CD003718.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33053612" target="_blank">33053612</a><a href="/pmc/articles/PMC9508794" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31734224">Sclerotherapy for lymphatic malformations of head and neck: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Maria L,
|
||
De Sanctis P,
|
||
Balakrishnan K,
|
||
Tollefson M,
|
||
Brinjikji W</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg Venous Lymphat Disord</span>
|
||
2020 Jan;8(1):154-164.
|
||
Epub 2019 Nov 14
|
||
doi: 10.1016/j.jvsv.2019.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31734224" target="_blank">31734224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27511883">Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banzic I,
|
||
Brankovic M,
|
||
Maksimović Ž,
|
||
Davidović L,
|
||
Marković M,
|
||
Rančić Z</span><br />
|
||
<span class="medgenPMjournal">Phlebology</span>
|
||
2017 Jul;32(6):371-383.
|
||
Epub 2016 Aug 9
|
||
doi: 10.1177/0268355516664212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27511883" target="_blank">27511883</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%203%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 (29)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4747646%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4747646%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4747646%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C4747646%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4747646%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613480" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lymphatic%20malformation%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(lymphatic%20malformation%203)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608803" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=57165[geneid]" target="_blank">View GJC2 variations in ClinVar</a></li><li><a href="/nuccore/226530444" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613480" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Lymphedema%2C+hereditary%2C+ic/8770" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/lymphatic_malformation_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lymphatic%20malformation%203" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16456/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Lymphatic%20malformation%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Lymphatic%20malformation%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1652857" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1652857" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4747646[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4747646[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1652857" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1652857" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1652857" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1652857" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
</li>
|
||
<li class="brieflinkpopper">
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