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<meta name="keywords" content="C0028326, disease or syndrome, familial turner syndrome, map2k1, map2k1-related noonan syndrome, noonan ehmke syndrome, noonan syndrome, noonan's syndrome, noonan-ehmke syndrome, ns, pseudo ullrich turner syndrome, pseudo-turner syndrome, pseudo-ullrich-turner syndrome, ptpn11, turner like syndrome, turner phenotype with normal karyotype, turner phenotype, karyotype normal, turner syndrome, familial, turner's phenotype, karyotype normal, turner-like syndrome, ullrich noonan syndrome, ullrich-noonan syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=18073
|
||
ConceptID=C0028326
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Noonan syndrome<span class="h1sub">(NS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18073</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.">C0028326</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>MAP2K1-Related Noonan Syndrome; Noonan's syndrome; NS; Pseudo-Turner syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Noonan-Ehmke syndrome (205824006); Turner-like syndrome (205824006); Noonan syndrome (205824006); Turner phenotype, karyotype normal (205684007); Turner's phenotype, karyotype normal (205684007); Noonan's syndrome (205824006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<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="MAP2K1 - ID: 5604 - NCBI Gene" href="/gene/5604" class="medgenPMinfo">MAP2K1</a> (15q22.31); <a target="_blank" title="PTPN11 - ID: 5781 - NCBI Gene" href="/gene/5781" class="medgenPMinfo">PTPN11</a> (12q24.13)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8216">LZTR1</a>, <a target="_blank" href="/gene/6654">SOS1</a>, <a target="_blank" href="/gene/6016">RIT1</a>, <a target="_blank" href="/gene/5894">RAF1</a>, <a target="_blank" href="/gene/4893">NRAS</a>, <a target="_blank" href="/gene/3845">KRAS</a>, <a target="_blank" href="/gene/673">BRAF</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018997" target="_blank">MONDO:0018997</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/163950" target="_blank">163950</a>; <a href="https://omim.org/entry/176876" target="_blank">176876</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS163950" target="_blank">PS163950</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=648">ORPHA648</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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/NBK1124" target="_blank">Noonan Syndrome</a></div><div>Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population. [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/NBK1124#noonan.Summary" target="NBK1124">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Diagnosis" target="NBK1124">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Clinical_Characteristics" target="NBK1124">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Genetically_Related_Allelic_Disor" target="NBK1124">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Differential_Diagnosis" target="NBK1124">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Management" target="NBK1124">Management</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Genetic_Counseling" target="NBK1124">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Resources" target="NBK1124">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Molecular_Genetics" target="NBK1124">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.Chapter_Notes" target="NBK1124">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1124#noonan.References" target="NBK1124">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Amy E Roberts <a href="/books/NBK1124" target="NBK1124" title="NCBI Bookshelf: Noonan Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002).
|
||
Genetic Heterogeneity of Noonan Syndrome
|
||
See also NS3 (609942), caused by mutation in the KRAS gene (190070); NS4 (610733), caused by mutation in the SOS1 gene (182530); NS5 (611553), caused by mutation in the RAF1 gene (164760); NS6 (613224), caused by mutation in the NRAS gene (164790); NS7 (613706), caused by mutation in the BRAF gene (164757); NS8 (615355), caused by mutation in the RIT1 gene (609591); NS9 (616559), caused by mutation in the SOS2 gene (601247); NS10 (616564), caused by mutation in the LZTR1 gene (600574); NS11 (618499), caused by mutation in the MRAS gene (608435); NS12 (618624), caused by mutation in the RRAS2 gene (600098); and NS13 (619087), caused by mutation in the MAPK1 gene (176948).
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Autosomal recessive forms of Noonan syndrome include NS2 (605275), caused by mutation in the LZTR1 gene (600574), and NS14 (619745), caused by mutation in the SPRED2 gene (609292).
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See also Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1; 607721), caused by mutation in the SHOC2 gene (602775); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; 617506), caused by mutation in the PPP1CB gene (600590); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; 613563), caused by mutation in the CBL gene (165360).
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Mutations in the neurofibromin gene (NF1; 613113), which is the site of mutations causing classic neurofibromatosis type I (NF1; 162200), have been found in neurofibromatosis-Noonan syndrome (NFNS; 601321). <a target="_blank" href="http://www.omim.org/entry/163950">http://www.omim.org/entry/163950</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.<br /><br />People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth (high-arched palate), poor teeth alignment, and a small lower jaw (micrognathia). Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.<br /><br />Between 50 and 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. Abnormal levels of growth hormone, a protein that is necessary for the normal growth of the body's bones and tissues, may contribute to the slow growth.<br /><br />Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some affected people may also have an abnormal side-to-side curvature of the spine (scoliosis).<br /><br />Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle.<br /><br />A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth.<br /><br />Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.<br /><br />Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years. Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid (lymphedema), which can go away on its own. Older individuals can also develop lymphedema, usually in the ankles and lower legs.<br /><br />Some people with Noonan syndrome develop cancer, particularly those involving the blood-forming cells (leukemia). It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers.<br /><br />Noonan syndrome is one of a group of related conditions, collectively known as RASopathies. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. In addition to Noonan syndrome, the RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. <a target="_blank" href="https://medlineplus.gov/genetics/condition/noonan-syndrome">https://medlineplus.gov/genetics/condition/noonan-syndrome</a></div></div>
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<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>
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<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5555857[DISCUI]&test_type=Clinical" ref="ncbi_uid=1792298">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1792298" ref="ncbi_uid=1792298">V</a></span></span><span class="TLline"><a href="/medgen/1792298" ref="tree=GTR&ncbi_uid=1792298&link_uid=1792298" title="View MedGen record for 'RASopathy'">RASopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029449[DISCUI]&test_type=Clinical" ref="ncbi_uid=852267">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1186/" ref="ncbi_uid=852267">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=852267" ref="ncbi_uid=852267">V</a></span></span><span class="TLline"><a href="/medgen/852267" ref="tree=GTR&ncbi_uid=852267&link_uid=852267" title="View MedGen record for 'Cardiofaciocutaneous syndrome 1'">Cardiofaciocutaneous syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0587248[DISCUI]&test_type=Clinical" ref="ncbi_uid=108454">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=108454" target="_blank" href="/omim/190020">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1507/" ref="ncbi_uid=108454">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=108454" ref="ncbi_uid=108454">V</a></span></span><span class="TLline"><a href="/medgen/108454" ref="tree=GTR&ncbi_uid=108454&link_uid=108454" title="View MedGen record for 'Costello syndrome'">Costello syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551558[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647111" target="_blank" href="/omim/135300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647111" ref="ncbi_uid=1647111">V</a></span></span><span class="TLline"><a href="/medgen/1647111" ref="tree=GTR&ncbi_uid=1647111&link_uid=1647111" title="View MedGen record for 'Fibromatosis, gingival, 1'">Fibromatosis, gingival, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0349639[DISCUI]&test_type=Clinical" ref="ncbi_uid=138109">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=138109" target="_blank" href="/omim/165360">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=138109" ref="ncbi_uid=138109">V</a></span></span><span class="TLline"><a href="/medgen/138109" ref="tree=GTR&ncbi_uid=138109&link_uid=138109" title="View MedGen record for 'Juvenile myelomonocytic leukemia'">Juvenile myelomonocytic leukemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969623[DISCUI]&test_type=Clinical" ref="ncbi_uid=370709">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370709" target="_blank" href="/omim/609291">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK47312/" ref="ncbi_uid=370709">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370709" ref="ncbi_uid=370709">V</a></span></span><span class="TLline"><a href="/medgen/370709" ref="tree=GTR&ncbi_uid=370709&link_uid=370709" title="View MedGen record for 'Legius syndrome'">Legius syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410530[DISCUI]&test_type=Clinical" ref="ncbi_uid=98377">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98377" target="_blank" href="/omim/156250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98377" ref="ncbi_uid=98377">V</a></span></span><span class="TLline"><a href="/medgen/98377" ref="tree=GTR&ncbi_uid=98377&link_uid=98377" title="View MedGen record for 'Metachondromatosis'">Metachondromatosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027831[DISCUI]&test_type=Clinical" ref="ncbi_uid=18013">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0027831[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=18013">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18013" target="_blank" href="/omim/162200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1109%20OR%20NBK1294)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=18013">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18013" ref="ncbi_uid=18013">V</a></span></span><span class="TLline"><a href="/medgen/18013" ref="tree=GTR&ncbi_uid=18013&link_uid=18013" title="View MedGen record for 'Neurofibromatosis, type 1'">Neurofibromatosis, type 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028326[DISCUI]&test_type=Clinical" ref="ncbi_uid=18073">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18073" target="_blank" href="/omim/163950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=18073">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18073" ref="ncbi_uid=18073">V</a></span></span><span class="TLline">Noonan syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551602[DISCUI]&test_type=Clinical" ref="ncbi_uid=1638960">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1638960" target="_blank" href="/omim/163950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=1638960">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1638960" ref="ncbi_uid=1638960">V</a></span></span><span class="TLline"><a href="/medgen/1638960" ref="tree=GTR&ncbi_uid=1638960&link_uid=1638960" title="View MedGen record for 'Noonan syndrome 1'">Noonan syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854469[DISCUI]&test_type=Clinical" ref="ncbi_uid=344290">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344290" target="_blank" href="/omim/600574">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=344290">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344290" ref="ncbi_uid=344290">V</a></span></span><span class="TLline"><a href="/medgen/344290" ref="tree=GTR&ncbi_uid=344290&link_uid=344290" title="View MedGen record for 'Noonan syndrome 2'">Noonan syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1860991[DISCUI]&test_type=Clinical" ref="ncbi_uid=349931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349931" target="_blank" href="/omim/190070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=349931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349931" ref="ncbi_uid=349931">V</a></span></span><span class="TLline"><a href="/medgen/349931" ref="tree=GTR&ncbi_uid=349931&link_uid=349931" title="View MedGen record for 'Noonan syndrome 3'">Noonan syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853120[DISCUI]&test_type=Clinical" ref="ncbi_uid=339908">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339908" target="_blank" href="/omim/182530">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=339908">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339908" ref="ncbi_uid=339908">V</a></span></span><span class="TLline"><a href="/medgen/339908" ref="tree=GTR&ncbi_uid=339908&link_uid=339908" title="View MedGen record for 'Noonan syndrome 4'">Noonan syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969057[DISCUI]&test_type=Clinical" ref="ncbi_uid=370589">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370589" target="_blank" href="/omim/164760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=370589">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370589" ref="ncbi_uid=370589">V</a></span></span><span class="TLline"><a href="/medgen/370589" ref="tree=GTR&ncbi_uid=370589&link_uid=370589" title="View MedGen record for 'Noonan syndrome 5'">Noonan syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750732[DISCUI]&test_type=Clinical" ref="ncbi_uid=413028">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413028" target="_blank" href="/omim/164790">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=413028">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413028" ref="ncbi_uid=413028">V</a></span></span><span class="TLline"><a href="/medgen/413028" ref="tree=GTR&ncbi_uid=413028&link_uid=413028" title="View MedGen record for 'Noonan syndrome 6'">Noonan syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150970[DISCUI]&test_type=Clinical" ref="ncbi_uid=462320">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462320" target="_blank" href="/omim/164757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=462320">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462320" ref="ncbi_uid=462320">V</a></span></span><span class="TLline"><a href="/medgen/462320" ref="tree=GTR&ncbi_uid=462320&link_uid=462320" title="View MedGen record for 'Noonan syndrome 7'">Noonan syndrome 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809233[DISCUI]&test_type=Clinical" ref="ncbi_uid=815563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815563" target="_blank" href="/omim/609591">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1124/" ref="ncbi_uid=815563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815563" ref="ncbi_uid=815563">V</a></span></span><span class="TLline"><a href="/medgen/815563" ref="tree=GTR&ncbi_uid=815563&link_uid=815563" title="View MedGen record for 'Noonan syndrome 8'">Noonan syndrome 8</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175704[DISCUI]&test_type=Clinical" ref="ncbi_uid=104494">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=104494" target="_blank" href="/omim/151100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=104494">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=104494" ref="ncbi_uid=104494">V</a></span></span><span class="TLline"><a href="/medgen/104494" ref="tree=GTR&ncbi_uid=104494&link_uid=104494" title="View MedGen record for 'Noonan syndrome with multiple lentigines'">Noonan syndrome with multiple lentigines</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551484[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631694" target="_blank" href="/omim/151100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=1631694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631694" ref="ncbi_uid=1631694">V</a></span></span><span class="TLline"><a href="/medgen/1631694" ref="tree=GTR&ncbi_uid=1631694&link_uid=1631694" title="View MedGen record for 'LEOPARD syndrome 1'">LEOPARD syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969056[DISCUI]&test_type=Clinical" ref="ncbi_uid=370588">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370588" target="_blank" href="/omim/164760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=370588">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370588" ref="ncbi_uid=370588">V</a></span></span><span class="TLline"><a href="/medgen/370588" ref="tree=GTR&ncbi_uid=370588&link_uid=370588" title="View MedGen record for 'LEOPARD syndrome 2'">LEOPARD syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150971[DISCUI]&test_type=Clinical" ref="ncbi_uid=462321">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462321" target="_blank" href="/omim/164757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1383/" ref="ncbi_uid=462321">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462321" ref="ncbi_uid=462321">V</a></span></span><span class="TLline"><a href="/medgen/462321" ref="tree=GTR&ncbi_uid=462321&link_uid=462321" title="View MedGen record for 'LEOPARD syndrome 3'">LEOPARD syndrome 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4478716[DISCUI]&test_type=Clinical" ref="ncbi_uid=1379805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1379805" target="_blank" href="/omim/602775">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1379805" ref="ncbi_uid=1379805">V</a></span></span><span class="TLline"><a href="/medgen/1379805" ref="tree=GTR&ncbi_uid=1379805&link_uid=1379805" title="View MedGen record for 'Noonan syndrome-like disorder with loose anagen hair 1'">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="matched_ds">Noonan syndrome</span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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=206&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Noonan 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/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2020 Mar;184(1):73-80.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/ajmg.c.31765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20876176">Noonan syndrome: clinical features, diagnosis, and management guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano AA,
|
||
Allanson JE,
|
||
Dahlgren J,
|
||
Gelb BD,
|
||
Hall B,
|
||
Pierpont ME,
|
||
Roberts AE,
|
||
Robinson W,
|
||
Takemoto CM,
|
||
Noonan JA</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2010 Oct;126(4):746-59.
|
||
Epub 2010 Sep 27
|
||
doi: 10.1542/peds.2009-3207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20876176" target="_blank">20876176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11992261">PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tartaglia M,
|
||
Kalidas K,
|
||
Shaw A,
|
||
Song X,
|
||
Musat DL,
|
||
van der Burgt I,
|
||
Brunner HG,
|
||
Bertola DR,
|
||
Crosby A,
|
||
Ion A,
|
||
Kucherlapati RS,
|
||
Jeffery S,
|
||
Patton MA,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2002 Jun;70(6):1555-63.
|
||
Epub 2002 May 1
|
||
doi: 10.1086/340847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11992261" target="_blank">11992261</a><a href="/pmc/articles/PMC379142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22noonan%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 (91)</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/35178568">The RASopathies: from pathogenetics to therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hebron KE,
|
||
Hernandez ER,
|
||
Yohe ME</span><br />
|
||
<span class="medgenPMjournal">Dis Model Mech</span>
|
||
2022 Feb 1;15(2)
|
||
Epub 2022 Feb 18
|
||
doi: 10.1242/dmm.049107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35178568" target="_blank">35178568</a><a href="/pmc/articles/PMC8862741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30859559">Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pagnamenta AT,
|
||
Kaisaki PJ,
|
||
Bennett F,
|
||
Burkitt-Wright E,
|
||
Martin HC,
|
||
Ferla MP,
|
||
Taylor JM,
|
||
Gompertz L,
|
||
Lahiri N,
|
||
Tatton-Brown K,
|
||
Newbury-Ecob R,
|
||
Henderson A,
|
||
Joss S,
|
||
Weber A,
|
||
Carmichael J,
|
||
Turnpenny PD,
|
||
McKee S,
|
||
Forzano F,
|
||
Ashraf T,
|
||
Bradbury K,
|
||
Shears D,
|
||
Kini U,
|
||
de Burca A;
|
||
DDD Study,
|
||
Blair E,
|
||
Taylor JC,
|
||
Stewart H</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Jun;95(6):693-703.
|
||
Epub 2019 Apr 3
|
||
doi: 10.1111/cge.13533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30859559" target="_blank">30859559</a><a href="/pmc/articles/PMC6563422" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23875798">The RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rauen KA</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Genomics Hum Genet</span>
|
||
2013;14:355-69.
|
||
Epub 2013 Jul 15
|
||
doi: 10.1146/annurev-genom-091212-153523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23875798" target="_blank">23875798</a><a href="/pmc/articles/PMC4115674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23312968">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts AE,
|
||
Allanson JE,
|
||
Tartaglia M,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2013 Jan 26;381(9863):333-42.
|
||
Epub 2013 Jan 10
|
||
doi: 10.1016/S0140-6736(12)61023-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23312968" target="_blank">23312968</a><a href="/pmc/articles/PMC4267483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20876176">Noonan syndrome: clinical features, diagnosis, and management guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano AA,
|
||
Allanson JE,
|
||
Dahlgren J,
|
||
Gelb BD,
|
||
Hall B,
|
||
Pierpont ME,
|
||
Roberts AE,
|
||
Robinson W,
|
||
Takemoto CM,
|
||
Noonan JA</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2010 Oct;126(4):746-59.
|
||
Epub 2010 Sep 27
|
||
doi: 10.1542/peds.2009-3207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20876176" target="_blank">20876176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%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 (582)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35246453">Noonan syndrome: improving recognition and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zenker M,
|
||
Edouard T,
|
||
Blair JC,
|
||
Cappa M</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2022 Dec;107(12):1073-1078.
|
||
Epub 2022 Mar 4
|
||
doi: 10.1136/archdischild-2021-322858.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35246453" target="_blank">35246453</a><a href="/pmc/articles/PMC9685729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23312968">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts AE,
|
||
Allanson JE,
|
||
Tartaglia M,
|
||
Gelb BD</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2013 Jan 26;381(9863):333-42.
|
||
Epub 2013 Jan 10
|
||
doi: 10.1016/S0140-6736(12)61023-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23312968" target="_blank">23312968</a><a href="/pmc/articles/PMC4267483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20876176">Noonan syndrome: clinical features, diagnosis, and management guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano AA,
|
||
Allanson JE,
|
||
Dahlgren J,
|
||
Gelb BD,
|
||
Hall B,
|
||
Pierpont ME,
|
||
Roberts AE,
|
||
Robinson W,
|
||
Takemoto CM,
|
||
Noonan JA</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2010 Oct;126(4):746-59.
|
||
Epub 2010 Sep 27
|
||
doi: 10.1542/peds.2009-3207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20876176" target="_blank">20876176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17639592">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2007 Aug 15;145C(3):274-9.
|
||
doi: 10.1002/ajmg.c.30138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17639592" target="_blank">17639592</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3543368">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 Jan;24(1):9-13.
|
||
doi: 10.1136/jmg.24.1.9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3543368" target="_blank">3543368</a><a href="/pmc/articles/PMC1049850" 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=%22Noonan%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (962)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35985710">Clinical Indications for Growth Hormone Therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Danowitz M,
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|
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<div class="nl"><a target="_blank" href="/pubmed/34636896">Approach to the Patient: Safety of Growth Hormone Replacement in Children and Adolescents.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bamba V,
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Menhart K,
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2017 Jun 17;18(6)
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<div class="nl"><a target="_blank" href="/pubmed/12713260">Noonan's syndrome and autoimmune diseases.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6753342">Turner's syndrome.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (229)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38136934">The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34776080">Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23312968">Noonan syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Roberts AE,
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Allanson JE,
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%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 (303)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38884729">Human Genetics of Ventricular Septal Defect.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perrot A,
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<div class="nl"><a target="_blank" href="/pubmed/32164556">Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Athota JP,
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Bhat M,
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Nampoothiri S,
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Gowrishankar K,
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Narayanachar SG,
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Puttamallesh V,
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30481304">Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Motta M,
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Fidan M,
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<div class="nl"><a target="_blank" href="/pubmed/29469822">Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Johnston JJ,
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Peleg A,
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Schanze D,
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Taylor JC,
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Verbeek NE,
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Walkiewicz MA,
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Zackai EH,
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Zweier C;
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Members of the Undiagnosed Diseases Network,
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Zenker M,
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Lee B,
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Biesecker LG</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/21387466">SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.</a></div>
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Ferrero GB,
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Torrrente I,
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Selicorni A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%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 (403)</a></div></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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38581124">Autism spectrum disorder profiles in RASopathies: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Debbaut E,
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Steyaert J,
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El Bakkali M</span><br />
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<span class="medgenPMjournal">Mol Genet Genomic Med</span>
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2024 Apr;12(4):e2428.
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<span class="bold">PMID: </span><a href="/pubmed/38581124" target="_blank">38581124</a><a href="/pmc/articles/PMC10997847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37075730">Effect of Growth Hormone Therapy on Pubertal Timing: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olwi D,
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Day F,
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Ong K</span><br />
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<span class="medgenPMjournal">Horm Res Paediatr</span>
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2024;97(1):1-10.
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Epub 2023 Apr 19
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||
doi: 10.1159/000530578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37075730" target="_blank">37075730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37576960">Abnormalities of pubertal development and gonadal function in Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patti G,
|
||
Scaglione M,
|
||
Maiorano NG,
|
||
Rosti G,
|
||
Divizia MT,
|
||
Camia T,
|
||
De Rose EL,
|
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Zucconi A,
|
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Casalini E,
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Napoli F,
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Di Iorgi N,
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Maghnie M</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2023;14:1213098.
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Epub 2023 Jul 28
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||
<span class="bold">PMID: </span><a href="/pubmed/37576960" target="_blank">37576960</a><a href="/pmc/articles/PMC10422880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35561969">Systematic literature review of lymphatic imaging-guided procedural management of Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox TP,
|
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Vance CJ,
|
||
Daley SK,
|
||
Papendieck C,
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McGregor H,
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Kuo P,
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Witte MH</span><br />
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<span class="medgenPMjournal">J Vasc Surg Venous Lymphat Disord</span>
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||
2022 Sep;10(5):1192-1196.e3.
|
||
Epub 2022 May 10
|
||
doi: 10.1016/j.jvsv.2022.03.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35561969" target="_blank">35561969</a><a href="/pmc/articles/PMC9378476" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28629126">Differentiated Thyroid Cancer-Treatment: State of the Art.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidbauer B,
|
||
Menhart K,
|
||
Hellwig D,
|
||
Grosse J</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2017 Jun 17;18(6)
|
||
doi: 10.3390/ijms18061292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28629126" target="_blank">28629126</a><a href="/pmc/articles/PMC5486113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Noonan%20syndrome%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 (10)</a></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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|
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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_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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0028326%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C0028326%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0028326%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0028326%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (66)</a></li>
|
||
<li><a href="/gtr/tests?term=C0028326%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0028326%5bDISCUI%5d" target="_blank">See all (72)</a></total></li>
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