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<meta name="keywords" content="C1854465, disease or syndrome, tsc1, tsc1 tuberous sclerosis, tuberose sclerosis, tuberous sclerosis 1, tuberous sclerosis caused by mutation in tsc1, tuberous sclerosis complex, tuberous sclerosis type 1, tuberous sclerosis, type 1, tuberous sclerosis-1, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=344288
|
||
ConceptID=C1854465
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tuberous sclerosis 1<span class="h1sub">(TSC1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1854465</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>TSC1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TSC1 - ID: 7248 - NCBI Gene" href="/gene/7248" class="medgenPMinfo">TSC1</a> (9q34.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008612" target="_blank">MONDO:0008612</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>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/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 MedlinePlus Genetics</strong><br />Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the brain, kidneys, heart, skin, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.<br /><br />Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Sometimes, affected individuals have areas of bone or dental damage.<br /><br />Tuberous sclerosis complex often affects the brain, with some affected individuals having benign growths in the outer surface of the brain (cerebral cortex) known as cortical tubers. Individuals with tuberous sclerosis complex often develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction (autism spectrum disorder). Additionally, individuals with tuberous sclerosis complex may have attention-deficit/hyperactivity disorder (ADHD) or seizures.<br /><br />Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart (cardiac rhabdomyoma) and the light-sensitive tissue at the back of the eye (the retina). Some women with tuberous sclerosis complex develop lymphangioleiomyomatosis (LAM), which is a lung disease characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs that causes coughing, shortness of breath, chest pain, and lung collapse. <a target="_blank" href="https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex">https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_766"><div><strong>Renal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766</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.">C0007134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766">Feature record</a> | <a href="/medgen?term=%22Renal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%20766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42017"><div><strong>Gingival fibromatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42017</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.">C0016049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of fibrosis of the gingiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42017">Feature record</a> | <a href="/medgen?term=%22Gingival%20fibromatosis%22%5BClinical%20Features%5D%20OR%2042017%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_104928"><div><strong>Angiofibromas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104928</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.">C0206731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Angiofibroma consist of many often dilated vessels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104928">Feature record</a> | <a href="/medgen?term=%22Angiofibromas%22%5BClinical%20Features%5D%20OR%20104928%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_852455"><div><strong>Pulmonary lymphangiomyomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852455</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.">C0238399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/852455">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20lymphangiomyomatosis%22%5BClinical%20Features%5D%20OR%20852455%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_69146"><div><strong>Kidney angiomyolipoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69146</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.">C0241961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69146">Feature record</a> | <a href="/medgen?term=%22Kidney%20angiomyolipoma%22%5BClinical%20Features%5D%20OR%2069146%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82726"><div><strong>Subungual fibromas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82726</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.">C0266003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of fibromata beneath finger or toenails.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/82726">Feature record</a> | <a href="/medgen?term=%22Subungual%20fibromas%22%5BClinical%20Features%5D%20OR%2082726%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_232027"><div><strong>Cardiac rhabdomyoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232027</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.">C1332852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">A benign tumor of cardiac striated muscle.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/232027">Feature record</a> | <a href="/medgen?term=%22Cardiac%20rhabdomyoma%22%5BClinical%20Features%5D%20OR%20232027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12162"><div><strong>Wolff-Parkinson-White pattern</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12162</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.">C0043202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).\n\nThe heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles). Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria.\n\nPeople with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria. This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other changes in heart rhythm. Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia.\n\nComplications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition.\n\nWolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, the heart rhythm problems associated with Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), Danon disease (a condition that weakens the heart and skeletal muscles and causes intellectual disability), and tuberous sclerosis complex (a condition that results in the growth of noncancerous tumors in many parts of the body).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/12162">Feature record</a> | <a href="/medgen?term=%22Wolff-Parkinson-White%20pattern%22%5BClinical%20Features%5D%20OR%2012162%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_438"><div><strong>Astrocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>438</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.">C0004114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/438">Feature record</a> | <a href="/medgen?term=%22Astrocytoma%22%5BClinical%20Features%5D%20OR%20438%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</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.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_41825"><div><strong>Ependymoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41825</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.">C0014474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an ependymoma of the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41825">Feature record</a> | <a href="/medgen?term=%22Ependymoma%22%5BClinical%20Features%5D%20OR%2041825%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138056"><div><strong>Optic nerve glioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138056</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.">C0346326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A glioma originating in the optic nerve or optic chiasm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138056">Feature record</a> | <a href="/medgen?term=%22Optic%20nerve%20glioma%22%5BClinical%20Features%5D%20OR%20138056%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140910"><div><strong>Hemimegalencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140910</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.">C0431391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of all or parts of one cerebral hemisphere.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140910">Feature record</a> | <a href="/medgen?term=%22Hemimegalencephaly%22%5BClinical%20Features%5D%20OR%20140910%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</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.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369895"><div><strong>Subependymal nodules</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369895</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.">C1968958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369895">Feature record</a> | <a href="/medgen?term=%22Subependymal%20nodules%22%5BClinical%20Features%5D%20OR%20369895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369896"><div><strong>Cortical tubers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369896</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.">C1968959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369896">Feature record</a> | <a href="/medgen?term=%22Cortical%20tubers%22%5BClinical%20Features%5D%20OR%20369896%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871302"><div><strong>Specific learning disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871302</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.">C4025790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871302">Feature record</a> | <a href="/medgen?term=%22Specific%20learning%20disability%22%5BClinical%20Features%5D%20OR%20871302%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40277"><div><strong>Chordoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40277</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.">C0008487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40277">Feature record</a> | <a href="/medgen?term=%22Chordoma%22%5BClinical%20Features%5D%20OR%2040277%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124360"><div><strong>Cerebral calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124360</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.">C0270685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calcium deposition within the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124360">Feature record</a> | <a href="/medgen?term=%22Cerebral%20calcification%22%5BClinical%20Features%5D%20OR%20124360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395958"><div><strong>Dental enamel pits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395958</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.">C1860711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of small depressions in the dental enamel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395958">Feature record</a> | <a href="/medgen?term=%22Dental%20enamel%20pits%22%5BClinical%20Features%5D%20OR%20395958%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75563"><div><strong>Adenoma sebaceum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75563</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.">C0265319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75563">Feature record</a> | <a href="/medgen?term=%22Adenoma%20sebaceum%22%5BClinical%20Features%5D%20OR%2075563%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869865"><div><strong>Preauricular hair displacement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869865</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.">C4024296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869865">Feature record</a> | <a href="/medgen?term=%22Preauricular%20hair%20displacement%22%5BClinical%20Features%5D%20OR%20869865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101803"><div><strong>Subcutaneous nodule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101803</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.">C0151811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Slightly elevated lesions on or in the skin with a diameter of over 5 mm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101803">Feature record</a> | <a href="/medgen?term=%22Subcutaneous%20nodule%22%5BClinical%20Features%5D%20OR%20101803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113157"><div><strong>Cafe-au-lait spot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113157</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.">C0221263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113157">Feature record</a> | <a href="/medgen?term=%22Cafe-au-lait%20spot%22%5BClinical%20Features%5D%20OR%20113157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96599"><div><strong>Shagreen patch</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96599</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.">C0432363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96599">Feature record</a> | <a href="/medgen?term=%22Shagreen%20patch%22%5BClinical%20Features%5D%20OR%2096599%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869790"><div><strong>Hypomelanotic macule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869790</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.">C4024220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869790">Feature record</a> | <a href="/medgen?term=%22Hypomelanotic%20macule%22%5BClinical%20Features%5D%20OR%20869790%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6991"><div><strong>Hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6991</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.">C0020676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of thyroid hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6991">Feature record</a> | <a href="/medgen?term=%22Hypothyroidism%22%5BClinical%20Features%5D%20OR%206991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18752"><div><strong>Precocious puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18752</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.">C0034013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18752">Feature record</a> | <a href="/medgen?term=%22Precocious%20puberty%22%5BClinical%20Features%5D%20OR%2018752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_348171"><div><strong>Achromatic retinal patches</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348171</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.">C1860710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348171">Feature record</a> | <a href="/medgen?term=%22Achromatic%20retinal%20patches%22%5BClinical%20Features%5D%20OR%20348171%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_354977"><div><strong>Retinal hamartoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354977</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.">C1863411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354977">Feature record</a> | <a href="/medgen?term=%22Retinal%20hamartoma%22%5BClinical%20Features%5D%20OR%20354977%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867516"><div><strong>Premature chromatid separation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867516</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.">C4021899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of premature sister chromatid segregation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867516">Feature record</a> | <a href="/medgen?term=%22Premature%20chromatid%20separation%22%5BClinical%20Features%5D%20OR%20867516%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature chromatid separation</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adenoma sebaceum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preauricular hair displacement</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolff-Parkinson-White pattern</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious puberty</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_348171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achromatic retinal patches</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_354977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal hamartoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe-au-lait spot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomelanotic macule</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96599" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shagreen patch</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous nodule</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral calcification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chordoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental enamel pits</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astrocytoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical tubers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ependymoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemimegalencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic nerve glioma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Specific learning disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subependymal nodules</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angiofibromas</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_232027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac rhabdomyoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival fibromatosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kidney angiomyolipoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_852455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary lymphangiomyomatosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cell carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82726" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subungual fibromas</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=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"><a href="/medgen/22518" ref="tree=GTR&ncbi_uid=22518&link_uid=22518" title="View MedGen record for 'Tuberous sclerosis syndrome'">Tuberous sclerosis syndrome</a></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="matched_ds"><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">Tuberous sclerosis 1</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="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span><ul><li><span class="matched_ds">Tuberous sclerosis 1</span></li></ul></li></ul></li></ul></div></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/38492461">Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delanty N,
|
||
Mohanraj R,
|
||
Shankar R,
|
||
Wehner T,
|
||
Stephen LJ,
|
||
D'Souza W,
|
||
Cappucci S,
|
||
McMurray R,
|
||
Sainz-Fuertes R,
|
||
Villanueva V</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107339.
|
||
Epub 2024 Mar 2
|
||
doi: 10.1016/j.eplepsyres.2024.107339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38492461" target="_blank">38492461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22520346">Emerging treatments in the management of tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohrman MH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 May;46(5):267-75.
|
||
doi: 10.1016/j.pediatrneurol.2012.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22520346" target="_blank">22520346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8671819">Chronic renal failure and its treatment in tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schillinger F,
|
||
Montagnac R</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
1996 Mar;11(3):481-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8671819" target="_blank">8671819</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tuberous%20sclerosis%201%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 (6)</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/38806941">Exposome on skeletal muscle system: a mini-review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purcaro C,
|
||
Marramiero L,
|
||
Santangelo C,
|
||
Bondi D,
|
||
Di Filippo ES</span><br />
|
||
<span class="medgenPMjournal">Eur J Appl Physiol</span>
|
||
2024 Aug;124(8):2227-2233.
|
||
Epub 2024 May 28
|
||
doi: 10.1007/s00421-024-05515-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38806941" target="_blank">38806941</a><a href="/pmc/articles/PMC11322190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38700789">Germline findings in cancer predisposing genes from a small cohort of chordoma patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raygada M,
|
||
John L,
|
||
Liu A,
|
||
Schultz J,
|
||
Thomas BJ,
|
||
Bernstein D,
|
||
Miettinen M,
|
||
Raffeld M,
|
||
Xi L,
|
||
Tyagi M,
|
||
Aldape K,
|
||
Glod J,
|
||
Reilly KM,
|
||
Widemann BC,
|
||
Wedekind MF</span><br />
|
||
<span class="medgenPMjournal">J Cancer Res Clin Oncol</span>
|
||
2024 May 3;150(5):227.
|
||
doi: 10.1007/s00432-024-05706-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38700789" target="_blank">38700789</a><a href="/pmc/articles/PMC11068663" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38096910">Cancer Predisposition Syndromes in Neuro-oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Na B,
|
||
Shah S,
|
||
Nghiemphu PL</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2024 Feb;44(1):16-25.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1055/s-0043-1777702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096910" target="_blank">38096910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
|
||
Pencheva BB,
|
||
Patil VM,
|
||
Fangusaro J</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2022 Oct;19(6):1752-1771.
|
||
Epub 2022 Sep 2
|
||
doi: 10.1007/s13311-022-01277-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32139167">Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
de Bruyn G,
|
||
Tousseyn S,
|
||
Krishnan B,
|
||
Lagae L,
|
||
Agarwal N;
|
||
TSC Natural History Database Consortium</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2020 May;106:10-16.
|
||
Epub 2020 Feb 4
|
||
doi: 10.1016/j.pediatrneurol.2019.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32139167" target="_blank">32139167</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%201%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38096910">Cancer Predisposition Syndromes in Neuro-oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Na B,
|
||
Shah S,
|
||
Nghiemphu PL</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2024 Feb;44(1):16-25.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1055/s-0043-1777702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096910" target="_blank">38096910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
|
||
Pencheva BB,
|
||
Patil VM,
|
||
Fangusaro J</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2022 Oct;19(6):1752-1771.
|
||
Epub 2022 Sep 2
|
||
doi: 10.1007/s13311-022-01277-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35916009">Molecular uropathology and cancer genetics for the urologist: key findings for classification and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Compérat E,
|
||
Oszwald A,
|
||
Wasinger G,
|
||
Kläger J,
|
||
Hassler MR,
|
||
Shariat SF</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Urol</span>
|
||
2022 Sep 1;32(5):451-455.
|
||
Epub 2022 Jul 18
|
||
doi: 10.1097/MOU.0000000000001025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35916009" target="_blank">35916009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119931">Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang Q,
|
||
Li F,
|
||
Hu H,
|
||
Fang Z,
|
||
Gao Z,
|
||
Xia G,
|
||
Ng WL,
|
||
Khodadadi-Jamayran A,
|
||
Chen T,
|
||
Deng J,
|
||
Zhang H,
|
||
Almonte C,
|
||
Labbe K,
|
||
Han H,
|
||
Geng K,
|
||
Tang S,
|
||
Freeman GJ,
|
||
Li Y,
|
||
Chen H,
|
||
Wong KK</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2022 Feb 4;8(5):eabi9533.
|
||
doi: 10.1126/sciadv.abi9533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119931" target="_blank">35119931</a><a href="/pmc/articles/PMC8816329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25484085">Autophagy and ethanol neurotoxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo J</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2014;10(12):2099-108.
|
||
doi: 10.4161/15548627.2014.981916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25484085" target="_blank">25484085</a><a href="/pmc/articles/PMC4502825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%201%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38806941">Exposome on skeletal muscle system: a mini-review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purcaro C,
|
||
Marramiero L,
|
||
Santangelo C,
|
||
Bondi D,
|
||
Di Filippo ES</span><br />
|
||
<span class="medgenPMjournal">Eur J Appl Physiol</span>
|
||
2024 Aug;124(8):2227-2233.
|
||
Epub 2024 May 28
|
||
doi: 10.1007/s00421-024-05515-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38806941" target="_blank">38806941</a><a href="/pmc/articles/PMC11322190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38492461">Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delanty N,
|
||
Mohanraj R,
|
||
Shankar R,
|
||
Wehner T,
|
||
Stephen LJ,
|
||
D'Souza W,
|
||
Cappucci S,
|
||
McMurray R,
|
||
Sainz-Fuertes R,
|
||
Villanueva V</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107339.
|
||
Epub 2024 Mar 2
|
||
doi: 10.1016/j.eplepsyres.2024.107339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38492461" target="_blank">38492461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119931">Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang Q,
|
||
Li F,
|
||
Hu H,
|
||
Fang Z,
|
||
Gao Z,
|
||
Xia G,
|
||
Ng WL,
|
||
Khodadadi-Jamayran A,
|
||
Chen T,
|
||
Deng J,
|
||
Zhang H,
|
||
Almonte C,
|
||
Labbe K,
|
||
Han H,
|
||
Geng K,
|
||
Tang S,
|
||
Freeman GJ,
|
||
Li Y,
|
||
Chen H,
|
||
Wong KK</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2022 Feb 4;8(5):eabi9533.
|
||
doi: 10.1126/sciadv.abi9533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119931" target="_blank">35119931</a><a href="/pmc/articles/PMC8816329" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25484085">Autophagy and ethanol neurotoxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo J</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2014;10(12):2099-108.
|
||
doi: 10.4161/15548627.2014.981916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25484085" target="_blank">25484085</a><a href="/pmc/articles/PMC4502825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3204460">Surgical repair of pectus excavatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shamberger RC,
|
||
Welch KJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
1988 Jul;23(7):615-22.
|
||
doi: 10.1016/s0022-3468(88)80629-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3204460" target="_blank">3204460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%201%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38806941">Exposome on skeletal muscle system: a mini-review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purcaro C,
|
||
Marramiero L,
|
||
Santangelo C,
|
||
Bondi D,
|
||
Di Filippo ES</span><br />
|
||
<span class="medgenPMjournal">Eur J Appl Physiol</span>
|
||
2024 Aug;124(8):2227-2233.
|
||
Epub 2024 May 28
|
||
doi: 10.1007/s00421-024-05515-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38806941" target="_blank">38806941</a><a href="/pmc/articles/PMC11322190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37990318">Identification of genetic variants in two families with Keratoconus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Q,
|
||
Wang X,
|
||
Han T,
|
||
Zhou X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Nov 21;16(1):299.
|
||
doi: 10.1186/s12920-023-01738-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37990318" target="_blank">37990318</a><a href="/pmc/articles/PMC10664684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
|
||
Pencheva BB,
|
||
Patil VM,
|
||
Fangusaro J</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2022 Oct;19(6):1752-1771.
|
||
Epub 2022 Sep 2
|
||
doi: 10.1007/s13311-022-01277-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35655269">DYRK1A reinforces epithelial-mesenchymal transition and metastasis of hepatocellular carcinoma via cooperatively activating STAT3 and SMAD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li YL,
|
||
Zhang MM,
|
||
Wu LW,
|
||
Liu YH,
|
||
Zhang ZY,
|
||
Zeng LH,
|
||
Lin NM,
|
||
Zhang C</span><br />
|
||
<span class="medgenPMjournal">J Biomed Sci</span>
|
||
2022 Jun 2;29(1):34.
|
||
doi: 10.1186/s12929-022-00817-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35655269" target="_blank">35655269</a><a href="/pmc/articles/PMC9164892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34520980">UBE2S exerts oncogenic activities in urinary bladder cancer by ubiquitinating TSC1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang H,
|
||
Fang T,
|
||
Ji M,
|
||
Wang JP,
|
||
Song LL,
|
||
Zhang QY,
|
||
Wu JS</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2021 Nov 12;578:7-14.
|
||
Epub 2021 Sep 6
|
||
doi: 10.1016/j.bbrc.2021.08.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34520980" target="_blank">34520980</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%201%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38806941">Exposome on skeletal muscle system: a mini-review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purcaro C,
|
||
Marramiero L,
|
||
Santangelo C,
|
||
Bondi D,
|
||
Di Filippo ES</span><br />
|
||
<span class="medgenPMjournal">Eur J Appl Physiol</span>
|
||
2024 Aug;124(8):2227-2233.
|
||
Epub 2024 May 28
|
||
doi: 10.1007/s00421-024-05515-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38806941" target="_blank">38806941</a><a href="/pmc/articles/PMC11322190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38492461">Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delanty N,
|
||
Mohanraj R,
|
||
Shankar R,
|
||
Wehner T,
|
||
Stephen LJ,
|
||
D'Souza W,
|
||
Cappucci S,
|
||
McMurray R,
|
||
Sainz-Fuertes R,
|
||
Villanueva V</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107339.
|
||
Epub 2024 Mar 2
|
||
doi: 10.1016/j.eplepsyres.2024.107339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38492461" target="_blank">38492461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37990318">Identification of genetic variants in two families with Keratoconus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Q,
|
||
Wang X,
|
||
Han T,
|
||
Zhou X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Nov 21;16(1):299.
|
||
doi: 10.1186/s12920-023-01738-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37990318" target="_blank">37990318</a><a href="/pmc/articles/PMC10664684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36056180">Nervous system (NS) Tumors in Cancer Predisposition Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patil P,
|
||
Pencheva BB,
|
||
Patil VM,
|
||
Fangusaro J</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2022 Oct;19(6):1752-1771.
|
||
Epub 2022 Sep 2
|
||
doi: 10.1007/s13311-022-01277-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36056180" target="_blank">36056180</a><a href="/pmc/articles/PMC9723057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25484085">Autophagy and ethanol neurotoxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo J</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2014;10(12):2099-108.
|
||
doi: 10.4161/15548627.2014.981916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25484085" target="_blank">25484085</a><a href="/pmc/articles/PMC4502825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tuberous%20sclerosis%201%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 (24)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
||
|
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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 mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (101)</a></li>
|
||
<li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (117)</a></li>
|
||
<li><a href="/gtr/tests?term=C1854465%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1854465%5bDISCUI%5d" target="_blank">See all (133)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=191100" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Tuberous%20sclerosis%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22tuberous%20sclerosis%201%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Tuberous%20sclerosis%201%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_TuberousSclerosis.pdf">Orphanet, 2007</a><div>Orphanet, Tuberous sclerosis, 2007</div></li></ul></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605284" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7248[geneid]" target="_blank">View TSC1 variations in ClinVar</a></li><li><a href="/nuccore/254039583" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=191100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/tuberous_sclerosis_1_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Tuberous%20sclerosis%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
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|
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=344288" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=344288" ref="log$=recordlinks">PubMed (OMIM)</a>
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