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<meta name="keywords" content="C5774203, ccla, central conducting lymphatic anomaly, disease or syndrome, lmphm12, lymphatic malformation 12, mdfic, 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="Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1823976
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ConceptID=C5774203
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lymphatic malformation 12<span class="h1sub">(LMPHM12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823976</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:">C5774203</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>CENTRAL CONDUCTING LYMPHATIC ANOMALY; LMPHM12</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="MDFIC - ID: 29969 - NCBI Gene" href="/gene/29969" class="medgenPMinfo">MDFIC</a> (7q31.1-31.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0031043" target="_blank">MONDO:0031043</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620014" target="_blank">620014</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">Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_318568"><div><strong>Hydrocele testis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318568</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.">C1720771</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318568">Feature record</a> | <a href="/medgen?term=%22Hydrocele%20testis%22%5BClinical%20Features%5D%20OR%20318568%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</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.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_538648"><div><strong>Pleural thickening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>538648</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.">C0264545</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/538648">Feature record</a> | <a href="/medgen?term=%22Pleural%20thickening%22%5BClinical%20Features%5D%20OR%20538648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375014"><div><strong>Recurrent upper and lower respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375014</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.">C1842777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375014">Feature record</a> | <a href="/medgen?term=%22Recurrent%20upper%20and%20lower%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20375014%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory difficulty as newborn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%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="divPopper rprt" id="clin_209030"><div><strong>Hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209030</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.">C0870082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209030">Feature record</a> | <a href="/medgen?term=%22Hyperkeratosis%22%5BClinical%20Features%5D%20OR%20209030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105327"><div><strong>Non-immune hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105327</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.">C0455988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105327">Feature record</a> | <a href="/medgen?term=%22Non-immune%20hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%20105327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_226930"><div><strong>Fetal ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226930</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.">C1285291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity during the fetal period.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226930">Feature record</a> | <a href="/medgen?term=%22Fetal%20ascites%22%5BClinical%20Features%5D%20OR%20226930%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_759277"><div><strong>Fetal pleural effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>759277</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.">C3532164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/759277">Feature record</a> | <a href="/medgen?term=%22Fetal%20pleural%20effusion%22%5BClinical%20Features%5D%20OR%20759277%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_759278"><div><strong>Fetal pericardial effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>759278</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.">C3532165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/759278">Feature record</a> | <a href="/medgen?term=%22Fetal%20pericardial%20effusion%22%5BClinical%20Features%5D%20OR%20759278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1814192"><div><strong>Fetal chylothorax</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814192</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.">C5676614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814192">Feature record</a> | <a href="/medgen?term=%22Fetal%20chylothorax%22%5BClinical%20Features%5D%20OR%201814192%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 prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_226930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal ascites</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal chylothorax</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_759278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal pericardial effusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_759277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal pleural effusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-immune hydrops fetalis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocele testis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkeratosis</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_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_538648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleural thickening</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent upper and lower respiratory tract infections</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%2012)%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 (84)</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/39445428">Radiation-Induced Macrovessel/Microvessel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abe JI,
|
||
Allen BG,
|
||
Beyer AM,
|
||
Lewandowski D,
|
||
Mapuskar KA,
|
||
Subramanian V,
|
||
Tamplin MR,
|
||
Grumbach IM</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2024 Dec;44(12):2407-2415.
|
||
Epub 2024 Oct 24
|
||
doi: 10.1161/ATVBAHA.124.319866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39445428" target="_blank">39445428</a><a href="/pmc/articles/PMC11842029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38696583">Risk of meningomyelocele mediated by the common 22q11.2 deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vong KI,
|
||
Lee S,
|
||
Au KS,
|
||
Crowley TB,
|
||
Capra V,
|
||
Martino J,
|
||
Haller M,
|
||
Araújo C,
|
||
Machado HR,
|
||
George R,
|
||
Gerding B,
|
||
James KN,
|
||
Stanley V,
|
||
Jiang N,
|
||
Alu K,
|
||
Meave N,
|
||
Nidhiry AS,
|
||
Jiwani F,
|
||
Tang I,
|
||
Nisal A,
|
||
Jhamb I,
|
||
Patel A,
|
||
Patel A,
|
||
McEvoy-Venneri J,
|
||
Barrows C,
|
||
Shen C,
|
||
Ha YJ,
|
||
Howarth R,
|
||
Strain M,
|
||
Ashley-Koch AE,
|
||
Azam M,
|
||
Mumtaz S,
|
||
Bot GM,
|
||
Finnell RH,
|
||
Kibar Z,
|
||
Marwan AI,
|
||
Melikishvili G,
|
||
Meltzer HS,
|
||
Mutchinick OM,
|
||
Stevenson DA,
|
||
Mroczkowski HJ,
|
||
Ostrander B,
|
||
Schindewolf E,
|
||
Moldenhauer J,
|
||
Zackai EH,
|
||
Emanuel BS,
|
||
Garcia-Minaur S,
|
||
Nowakowska BA,
|
||
Stevenson RE,
|
||
Zaki MS,
|
||
Northrup H,
|
||
McNamara HK,
|
||
Aldinger KA,
|
||
Phelps IG,
|
||
Deng M,
|
||
Glass IA;
|
||
Spina Bifida Sequencing Consortium‡,
|
||
Morrow B,
|
||
McDonald-McGinn DM,
|
||
Sanna-Cherchi S,
|
||
Lamb DJ,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2024 May 3;384(6695):584-590.
|
||
Epub 2024 May 2
|
||
doi: 10.1126/science.adl1624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38696583" target="_blank">38696583</a><a href="/pmc/articles/PMC11849314" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36002662">Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boot E,
|
||
Marras C,
|
||
Bassett AS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2022 Dec;30(12):1314-1317.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1038/s41431-022-01152-4.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/21357890">Lymphangioleiomyomatosis: what do we know and what are we looking for?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harari S,
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Torre O,
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<span class="bold">PMID: </span><a href="/pubmed/21357890" target="_blank">21357890</a><a href="/pmc/articles/PMC3386525" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lymphatic%20malformation%2012%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 (266)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/39248487">Fetal Cystic Lymphatic Malformations: Systematic Review on Pregnancy and Neonatal Outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nzelu D,
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Panayotidis I,
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Smith GD,
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Pandya P</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/39248487" target="_blank">39248487</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/35526176">Efficacy of sirolimus in children with lymphatic malformations of the head and neck.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegand S,
|
||
Dietz A,
|
||
Wichmann G</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2022 Aug;279(8):3801-3810.
|
||
Epub 2022 May 8
|
||
doi: 10.1007/s00405-022-07378-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35526176" target="_blank">35526176</a><a href="/pmc/articles/PMC9249683" target="_blank" class="PubMedFree">Free PMC Article</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%2012%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 (12)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5774203%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
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<li><a href="/gtr/tests?term=C5774203%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li><a href="/gtr/tests?term=C5774203%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5774203%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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