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<meta name="keywords" content="C2752042, clove syndrome, clove syndrome, somatic, cloves, cloves syndrome, congenital lipomatous overgrowth - vascular malformation - epidermal nevi, congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome, congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, congenital lipomatous overgrowth, vascular malformations, and epidermal nevi syndrome, congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, somatic, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal-spinal abnormalities, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome, disease or syndrome, pik3ca, 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="PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=442876
|
||
ConceptID=C2752042
|
||
-->
|
||
<!--imgCountBooks = 4--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (4)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK153722/bin/pik3ca-overgrowth-Image001.gif" src-large="/books/NBK153722/bin/pik3ca-overgrowth-Image001.jpg" /></a><br /><a href="/books/NBK153722/figure/pik3ca-overgrowth.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK153722/bin/pik3ca-overgrowth-Image002.gif" src-large="/books/NBK153722/bin/pik3ca-overgrowth-Image002.jpg" /></a><br /><a href="/books/NBK153722/figure/pik3ca-overgrowth.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK153722/bin/pik3ca-overgrowth-Image003.gif" src-large="/books/NBK153722/bin/pik3ca-overgrowth-Image003.jpg" /></a><br /><a href="/books/NBK153722/figure/pik3ca-overgrowth.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK153722/bin/pik3ca-overgrowth-Image004.gif" src-large="/books/NBK153722/bin/pik3ca-overgrowth-Image004.jpg" /></a><br /><a href="/books/NBK153722/figure/pik3ca-overgrowth.F4/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">CLOVES syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442876</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.">C2752042</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>CLOVE SYNDROME; CLOVES; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, SOMATIC; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (719475006); CLOVE syndrome (719475006); CLOVES syndrome (719475006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PIK3CA - ID: 5290 - NCBI Gene" href="/gene/5290" class="medgenPMinfo">PIK3CA</a> (3q26.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013038" target="_blank">MONDO:0013038</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612918" target="_blank">612918</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140944">ORPHA140944</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK153722" target="_blank">PIK3CA-Related Overgrowth Spectrum</a></div><div>PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Summary" target="NBK153722">Summary</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.GeneReview_Scope" target="NBK153722">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Diagnosis" target="NBK153722">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Clinical_Characteristi" target="NBK153722">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Genetically_Related_Al" target="NBK153722">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Differential_Diagnosis" target="NBK153722">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Management" target="NBK153722">Management</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Genetic_Counseling" target="NBK153722">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Resources" target="NBK153722">Resources</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Molecular_Genetics" target="NBK153722">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.Chapter_Notes" target="NBK153722">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK153722#pik3ca-overgrowth.References" target="NBK153722">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
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Ghayda Mirzaa | John M Graham | Kim Keppler-Noreuil <a href="/books/NBK153722" target="NBK153722" title="NCBI Bookshelf: PIK3CA-Related Overgrowth Spectrum">view full author information</a></div></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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_44173"><div><strong>Lipoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44173</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.">C0023798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44173">Feature record</a> | <a href="/medgen?term=%22Lipoma%22%5BClinical%20Features%5D%20OR%2044173%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_10221"><div><strong>Nephroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10221</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.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10221">Feature record</a> | <a href="/medgen?term=%22Nephroblastoma%22%5BClinical%20Features%5D%20OR%2010221%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_120571"><div><strong>Renal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120571</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.">C0266295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hypoplasia of the kidney.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/120571">Feature record</a> | <a href="/medgen?term=%22Renal%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120571%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78564"><div><strong>Congenital macrodactylia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78564</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.">C0265552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78564">Feature record</a> | <a href="/medgen?term=%22Congenital%20macrodactylia%22%5BClinical%20Features%5D%20OR%2078564%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_374376"><div><strong>Sandal gap</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374376</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.">C1840069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A widely spaced gap between the first toe (the great toe) and the second toe.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/374376">Feature record</a> | <a href="/medgen?term=%22Sandal%20gap%22%5BClinical%20Features%5D%20OR%20374376%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_754284"><div><strong>Venous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>754284</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.">C2937220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/754284">Feature record</a> | <a href="/medgen?term=%22Venous%20malformation%22%5BClinical%20Features%5D%20OR%20754284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892473"><div><strong>Abnormal cardiovascular system morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892473</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.">C4049796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Any structural anomaly of the heart and blood vessels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892473">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cardiovascular%20system%20morphology%22%5BClinical%20Features%5D%20OR%20892473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44089"><div><strong>Lower limb asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44089</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.">C0023221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A difference in length or diameter between the left and right leg.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/44089">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20asymmetry%22%5BClinical%20Features%5D%20OR%2044089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90701"><div><strong>Hemihypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90701</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.">C0332890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Overgrowth of only one side of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90701">Feature record</a> | <a href="/medgen?term=%22Hemihypertrophy%22%5BClinical%20Features%5D%20OR%2090701%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376550"><div><strong>Overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376550</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.">C1849265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376550">Feature record</a> | <a href="/medgen?term=%22Overgrowth%22%5BClinical%20Features%5D%20OR%20376550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_36387"><div><strong>Tethered cord</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36387</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.">C0080218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36387">Feature record</a> | <a href="/medgen?term=%22Tethered%20cord%22%5BClinical%20Features%5D%20OR%2036387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87487"><div><strong>Spinal dysraphism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87487</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.">C0344479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87487">Feature record</a> | <a href="/medgen?term=%22Spinal%20dysraphism%22%5BClinical%20Features%5D%20OR%2087487%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_318629"><div><strong>Cranial hyperostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318629</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.">C1832451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive growth of the bones of cranium, i.e., of the skull.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318629">Feature record</a> | <a href="/medgen?term=%22Cranial%20hyperostosis%22%5BClinical%20Features%5D%20OR%20318629%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113154"><div><strong>Webbed neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113154</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.">C0221217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113154">Feature record</a> | <a href="/medgen?term=%22Webbed%20neck%22%5BClinical%20Features%5D%20OR%20113154%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_266298"><div><strong>Facial asymmetry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266298</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.">C1306710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal difference between the left and right sides of the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266298">Feature record</a> | <a href="/medgen?term=%22Facial%20asymmetry%22%5BClinical%20Features%5D%20OR%20266298%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90955"><div><strong>Capillary malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90955</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.">C0340803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90955">Feature record</a> | <a href="/medgen?term=%22Capillary%20malformation%22%5BClinical%20Features%5D%20OR%2090955%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial asymmetry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Webbed neck</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital macrodactylia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandal gap</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cardiovascular system morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_754284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Venous malformation</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_120571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypoplasia</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_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_90955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Capillary malformation</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_318629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranial hyperostosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal dysraphism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_36387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tethered cord</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemihypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb asymmetry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overgrowth</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephroblastoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752042[DISCUI]&test_type=Clinical" ref="ncbi_uid=442876">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2752042[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=442876">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442876" target="_blank" href="/omim/612918">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK153722/" ref="ncbi_uid=442876">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442876" ref="ncbi_uid=442876">V</a></span></span><span class="TLline">CLOVES syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826056" ref="tree=MeSH" title="MedGen record for Complex vascular malformation with associated anomalies">Complex vascular malformation with associated anomalies</a></span><ul><li><span class="matched_ds">CLOVES syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=17004&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">CLOVES syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
|
||
Rios JJ,
|
||
Parker VE,
|
||
Semple RK,
|
||
Lindhurst MJ,
|
||
Sapp JC,
|
||
Alomari A,
|
||
Ezaki M,
|
||
Dobyns W,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Feb;167A(2):287-95.
|
||
Epub 2014 Dec 31
|
||
doi: 10.1002/ajmg.a.36836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25241101">Management of visceral vascular anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dasgupta R,
|
||
Fishman SJ</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2014 Aug;23(4):216-20.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1053/j.sempedsurg.2014.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25241101" target="_blank">25241101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21504461">Comments on the diagnosis and management of CLOVES syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alomari AI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2011 Mar-Apr;28(2):215-6.
|
||
doi: 10.1111/j.1525-1470.2011.01396.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21504461" target="_blank">21504461</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cloves%20syndrome%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 (4)</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/37949664">Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Kock L,
|
||
Cuillerier A,
|
||
Gillespie M,
|
||
Couse M,
|
||
Hartley T,
|
||
Mears W,
|
||
Bernier FP,
|
||
Chudley AE,
|
||
Frosk P,
|
||
Nikkel SM,
|
||
Innes AM,
|
||
Lauzon J,
|
||
Thomas M,
|
||
Guerin A,
|
||
Armour CM,
|
||
Weksberg R,
|
||
Scott JN,
|
||
Watkins D,
|
||
Harvey S,
|
||
Cytrynbaum C;
|
||
Care4Rare Canada Consortium,
|
||
Kernohan KD,
|
||
Boycott KM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Mar;194(3):e63466.
|
||
Epub 2023 Nov 10
|
||
doi: 10.1002/ajmg.a.63466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37949664" target="_blank">37949664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36314082">PIK3CA Mutational Analysis in Patients With Macrodactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker J,
|
||
Gross UC,
|
||
Weber DM,
|
||
Weibel L,
|
||
Theiler M,
|
||
Brandt S,
|
||
Bode PK</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2022 Nov-Dec;25(6):624-634.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1177/10935266221080155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36314082" target="_blank">36314082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31693582">Vascular malformations syndromes: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Lopez A,
|
||
Salvador-Rodriguez L,
|
||
Montero-Vilchez T,
|
||
Molina-Leyva A,
|
||
Tercedor-Sanchez J,
|
||
Arias-Santiago S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2019 Dec;31(6):747-753.
|
||
doi: 10.1097/MOP.0000000000000812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693582" target="_blank">31693582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26564069">Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flores-Sarnat L,
|
||
Sarnat HB</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2015;132:9-25.
|
||
doi: 10.1016/B978-0-444-62702-5.00002-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26564069" target="_blank">26564069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
|
||
Rios JJ,
|
||
Parker VE,
|
||
Semple RK,
|
||
Lindhurst MJ,
|
||
Sapp JC,
|
||
Alomari A,
|
||
Ezaki M,
|
||
Dobyns W,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Feb;167A(2):287-95.
|
||
Epub 2014 Dec 31
|
||
doi: 10.1002/ajmg.a.36836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25557259" target="_blank">25557259</a><a href="/pmc/articles/PMC4480633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CLOVES%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36314082">PIK3CA Mutational Analysis in Patients With Macrodactyly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker J,
|
||
Gross UC,
|
||
Weber DM,
|
||
Weibel L,
|
||
Theiler M,
|
||
Brandt S,
|
||
Bode PK</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2022 Nov-Dec;25(6):624-634.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1177/10935266221080155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36314082" target="_blank">36314082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36243429">Capillary Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escobar K,
|
||
Pandher K,
|
||
Jahnke MN</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2022 Oct;40(4):425-433.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1016/j.det.2022.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36243429" target="_blank">36243429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27438212">What is your diagnosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panteliades M,
|
||
Silva CM,
|
||
Gontijo B</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2016 May-Jun;91(3):378-80.
|
||
doi: 10.1590/abd1806-4841.20165897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27438212" target="_blank">27438212</a><a href="/pmc/articles/PMC4938289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25557259">PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keppler-Noreuil KM,
|
||
Rios JJ,
|
||
Parker VE,
|
||
Semple RK,
|
||
Lindhurst MJ,
|
||
Sapp JC,
|
||
Alomari A,
|
||
Ezaki M,
|
||
Dobyns W,
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<div class="nl"><a target="_blank" href="/pubmed/24161472">CLOVES syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bloom J,
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<div class="nl"><a target="_blank" href="/pubmed/38444084">Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29493003">Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Denorme P,
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<div class="portlet_content ln"><span class="medgenPMauthor">Alomari AI,
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Orbach DB,
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Mulliken JB,
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Bisdorff A,
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Fishman SJ,
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Norbash A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CLOVES%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33580918">Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33580918" target="_blank">33580918</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32186590">CLOVES syndrome: Treatment with oral Rapamycin. Report of two cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Grazia R,
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Giordano C,
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<span class="bold">PMID: </span><a href="/pubmed/32186590" target="_blank">32186590</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/26268729">Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vahidnezhad H,
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Youssefian L,
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Uitto J</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/26564069">Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flores-Sarnat L,
|
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Sarnat HB</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2015;132:9-25.
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||
doi: 10.1016/B978-0-444-62702-5.00002-0.
|
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<span class="bold">PMID: </span><a href="/pubmed/26564069" target="_blank">26564069</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/19011570">Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alomari AI</span><br />
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<span class="medgenPMjournal">Clin Dysmorphol</span>
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CLOVES%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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</div>
|
||
<div class=" bottom">
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|
||
</div>
|
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|
||
</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">
|
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<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=C2752042%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C2752042%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2752042%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2752042%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2752042%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C2752042%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2752042%5bDISCUI%5d" target="_blank">See all (29)</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>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612918" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=140944" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=CLOVES%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<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=(%22cloves%20syndrome%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(%22CLOVES%20syndrome%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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||
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=171834" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5290[geneid]" target="_blank">View PIK3CA variations in ClinVar</a></li><li><a href="/nuccore/237858742" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612918" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/congenital_lipomatous_overgrowth_vascular_malformations_and_epidermal_nevi" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=CLOVES%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10939/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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||
<a href="/pubmed/23946963" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
||
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|
||
<a href="/pubmed/clinical?term=CLOVES%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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|
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|
||
<a href="/pubmed?term=CLOVES%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=442876" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2752042[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2752042[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
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<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=442876" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=442876" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=442876" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=442876" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d6962667c23b31e0591329">CLOVES syndrome</a>
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<div class="ralinkpop offscreen_noflow">CLOVES syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d69625cde49f3df782e829">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obe...</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d6962384f3725e59d1be77">Rhabdomyosarcoma, embryonal, 2</a>
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<div class="ralinkpop offscreen_noflow">Rhabdomyosarcoma, embryonal, 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d69620cde49f3df782d2da">Megalencephaly-capillary malformation-polymicrogyria syndrome</a>
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<div class="ralinkpop offscreen_noflow">Megalencephaly-capillary malformation-polymicrogyria syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d6961f67c23b31e058f496">Isolated hemihyperplasia</a>
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<div class="tertiary">MedGen</div>
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