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<!--
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||
UID=22518
|
||
ConceptID=C0041341
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tuberous sclerosis syndrome<span class="h1sub">(TSC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22518</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.">C0041341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>TSC; Tuberous sclerosis; Tuberous Sclerosis Complex</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>TS - Tuberous sclerosis (7199000); Tuberous sclerosis syndrome (7199000); Bourneville's disease (7199000); Adenoma sebaceum syndrome (7199000); Epiloia (7199000); Tuberous sclerosis (7199000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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_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" 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/7249">TSC2</a>, <a target="_blank" href="/gene/7248">TSC1</a>, <a target="_blank" href="/gene/3458">IFNG</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001734" target="_blank">MONDO:0001734</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/191100" target="_blank">191100</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS191100" target="_blank">PS191100</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=805">ORPHA805</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">
|
||
<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/NBK1220" target="_blank">Tuberous Sclerosis Complex</a></div><div>Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality. [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/NBK1220#tuberous-sclerosis.Summary" target="NBK1220">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Diagnosis" target="NBK1220">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Clinical_Characterist" target="NBK1220">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Genetically_Related_A" target="NBK1220">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Differential_Diagnosi" target="NBK1220">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Management" target="NBK1220">Management</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Genetic_Counseling" target="NBK1220">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Resources" target="NBK1220">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Molecular_Genetics" target="NBK1220">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.Chapter_Notes" target="NBK1220">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1220#tuberous-sclerosis.References" target="NBK1220">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Hope Northrup | Mary Kay Koenig | Deborah A Pearson<i>, et. al.</i> <a href="/books/NBK1220" target="NBK1220" title="NCBI Bookshelf: Tuberous Sclerosis Complex">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_description">Additional description</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 />Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008).
|
||
Genetic Heterogeneity of Tuberous Sclerosis
|
||
See also tuberous sclerosis-2 (613254), which is caused by mutation in the TSC2 gene (191092) on chromosome 16p13.
|
||
Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). <a target="_blank" href="http://www.omim.org/entry/191100">http://www.omim.org/entry/191100</a></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=C0041341[DISCUI]&test_type=Clinical" ref="ncbi_uid=22518">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=22518" target="_blank" href="/omim/191100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1220/" ref="ncbi_uid=22518">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=22518" ref="ncbi_uid=22518">V</a></span></span><span class="TLline">Tuberous sclerosis syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325000" target="_blank" href="/omim/600273">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/325000" ref="tree=GTR&ncbi_uid=325000&link_uid=325000" title="View MedGen record for 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis'">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</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=C1854465[DISCUI]&test_type=Clinical" ref="ncbi_uid=344288">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344288" target="_blank" href="/omim/191100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1220/" ref="ncbi_uid=344288">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344288" ref="ncbi_uid=344288">V</a></span></span><span class="TLline"><a href="/medgen/344288" ref="tree=GTR&ncbi_uid=344288&link_uid=344288" title="View MedGen record for 'Tuberous sclerosis 1'">Tuberous sclerosis 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=C1860707[DISCUI]&test_type=Clinical" ref="ncbi_uid=348170">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348170" target="_blank" href="/omim/191092">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1220/" ref="ncbi_uid=348170">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=348170" ref="ncbi_uid=348170">V</a></span></span><span class="TLline"><a href="/medgen/348170" ref="tree=GTR&ncbi_uid=348170&link_uid=348170" title="View MedGen record for 'Tuberous sclerosis 2'">Tuberous sclerosis 2</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/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="matched_ds">Tuberous sclerosis syndrome</span><ul><li><span class="TLline"><a href="/medgen/325000" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis">Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/344288" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 1">Tuberous sclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348170" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis 2">Tuberous sclerosis 2</a></span></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=660&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Tuberous sclerosis 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/31090139">Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinna R,
|
||
Cocco F,
|
||
Campus G,
|
||
Conti G,
|
||
Milia E,
|
||
Sardella A,
|
||
Cagetti MG</span><br />
|
||
<span class="medgenPMjournal">Periodontol 2000</span>
|
||
2019 Jun;80(1):12-27.
|
||
doi: 10.1111/prd.12261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31090139" target="_blank">31090139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27866088">Is ketogenic diet treatment hepatotoxic for children with intractable epilepsy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan N,
|
||
Guzel O,
|
||
Kose E,
|
||
Yılmaz U,
|
||
Kuyum P,
|
||
Aksoy B,
|
||
Çalık T</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2016 Dec;43:32-38.
|
||
Epub 2016 Nov 13
|
||
doi: 10.1016/j.seizure.2016.10.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27866088" target="_blank">27866088</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tuberous%20sclerosis%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 (2)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_TuberousSclerosis.pdf" target="_blank">Orphanet, Tuberous sclerosis, 2007</a></h3>
|
||
</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/38206725">A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Che Y,
|
||
Zhong J,
|
||
Chen Y,
|
||
Xie J,
|
||
Wang R,
|
||
Xu Y,
|
||
Zha J,
|
||
Zeng M,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Dec 29;102(52):e36675.
|
||
doi: 10.1097/MD.0000000000036675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38206725" target="_blank">38206725</a><a href="/pmc/articles/PMC10754593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37661807">Positive GPNMB Immunostaining Differentiates Renal Cell Carcinoma With Fibromyomatous Stroma Associated With TSC1/2/MTOR Alterations From Others.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li H,
|
||
Argani P,
|
||
Halper-Stromberg E,
|
||
Lotan TL,
|
||
Merino MJ,
|
||
Reuter VE,
|
||
Matoso A</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2023 Nov 1;47(11):1267-1273.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1097/PAS.0000000000002117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37661807" target="_blank">37661807</a><a href="/pmc/articles/PMC10592185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12172555">Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao X,
|
||
Zhang Y,
|
||
Arrazola P,
|
||
Hino O,
|
||
Kobayashi T,
|
||
Yeung RS,
|
||
Ru B,
|
||
Pan D</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2002 Sep;4(9):699-704.
|
||
doi: 10.1038/ncb847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12172555" target="_blank">12172555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29286955">INVISIBLE, HONEYCOMB-LIKE, CAVITARY RETINAL ASTROCYTIC HAMARTOMA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mellen PL,
|
||
Sioufi K,
|
||
Shields JA,
|
||
Shields CL</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2020 Summer;14(3):211-214.
|
||
doi: 10.1097/ICB.0000000000000697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29286955" target="_blank">29286955</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26969365">Bilateral renal angiomyolipoma presenting as tuberous sclerosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prakash G,
|
||
Sankhwar S,
|
||
Jhanwar A,
|
||
Singh K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2016 Mar 11;2016
|
||
doi: 10.1136/bcr-2016-214778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26969365" target="_blank">26969365</a><a href="/pmc/articles/PMC4800235" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26715170">Practical issues in uterine pathology from banal to bewildering: the remarkable spectrum of smooth muscle neoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliva E</span><br />
|
||
<span class="medgenPMjournal">Mod Pathol</span>
|
||
2016 Jan;29 Suppl 1:S104-20.
|
||
doi: 10.1038/modpathol.2015.139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26715170" target="_blank">26715170</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20480750">Retinal findings in tuberous sclerosis syndrome (TSS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casteels I</span><br />
|
||
<span class="medgenPMjournal">Bull Soc Belge Ophtalmol</span>
|
||
2010;(314):55-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20480750" target="_blank">20480750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/53537">Letter: Infantile spasms and subsequent appearance of tuberous sclerosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pampiglione G,
|
||
Pugh E</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1975 Nov 22;2(7943):1046.
|
||
doi: 10.1016/s0140-6736(75)90343-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/53537" target="_blank">53537</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/186565">The tuberous sclerosis syndrome: clinical and EEG studies in 100 children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pampiglione G,
|
||
Moynahan EJ</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1976 Jul;39(7):666-73.
|
||
doi: 10.1136/jnnp.39.7.666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/186565" target="_blank">186565</a><a href="/pmc/articles/PMC492399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31317616">A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelwahed M,
|
||
Touraine R,
|
||
Ben-Rhouma B,
|
||
Dhieb D,
|
||
Mars M,
|
||
Kammoun K,
|
||
Hachicha J,
|
||
Triki C,
|
||
Kamoun H,
|
||
Keskes-Ammar L,
|
||
Belguith N</span><br />
|
||
<span class="medgenPMjournal">IUBMB Life</span>
|
||
2019 Dec;71(12):1937-1945.
|
||
Epub 2019 Jul 18
|
||
doi: 10.1002/iub.2134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31317616" target="_blank">31317616</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31317616">A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelwahed M,
|
||
Touraine R,
|
||
Ben-Rhouma B,
|
||
Dhieb D,
|
||
Mars M,
|
||
Kammoun K,
|
||
Hachicha J,
|
||
Triki C,
|
||
Kamoun H,
|
||
Keskes-Ammar L,
|
||
Belguith N</span><br />
|
||
<span class="medgenPMjournal">IUBMB Life</span>
|
||
2019 Dec;71(12):1937-1945.
|
||
Epub 2019 Jul 18
|
||
doi: 10.1002/iub.2134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31317616" target="_blank">31317616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29500070">Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papadopoulou A,
|
||
Dinopoulos A,
|
||
Koutsodontis G,
|
||
Pons R,
|
||
Vorgia P,
|
||
Koute V,
|
||
Vratimos A,
|
||
Zafeiriou D</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2018 May;22(3):419-426.
|
||
Epub 2018 Feb 9
|
||
doi: 10.1016/j.ejpn.2018.01.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29500070" target="_blank">29500070</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%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 (2)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0041341%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
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<li><a href="/gtr/tests?term=C0041341%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
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<li><a href="/gtr/tests?term=C0041341%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
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<li><a href="/gtr/tests?term=C0041341%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
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<li><a href="/gtr/tests?term=C0041341%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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