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<!--
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UID=461257
|
||
ConceptID=C3149907
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Amyotrophic lateral sclerosis, susceptibility to, 13<span class="h1sub">(ALS13)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461257</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:">C3149907</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Amyotrophic lateral sclerosis 13</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0800224" target="_blank">MONDO:0800224</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/183090" target="_blank">183090</a>; <a href="https://omim.org/entry/601517" target="_blank">601517</a></td></tr>
|
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</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_head mgSectionHead ui-widget-header"><h1 class="nl" id=""></h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nailah Siddique | Teepu Siddique <a href="/books/NBK1450" target="NBK1450" title="NCBI Bookshelf: Amyotrophic Lateral Sclerosis Overview">view full author information</a></div></div>
|
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<div class="portlet mgSection" id="ID_105">
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<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>
|
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<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/30180501">Genetic testing in amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakken O,
|
||
Sørum L,
|
||
Holmøy T</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2018 Sep 4;138(13)
|
||
Epub 2018 Sep 3
|
||
doi: 10.4045/tidsskr.18.0193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30180501" target="_blank">30180501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27982040">Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Chalabi A,
|
||
van den Berg LH,
|
||
Veldink J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2017 Feb;13(2):96-104.
|
||
Epub 2016 Dec 16
|
||
doi: 10.1038/nrneurol.2016.182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27982040" target="_blank">27982040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26777436">Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dekker AM,
|
||
Seelen M,
|
||
van Doormaal PT,
|
||
van Rheenen W,
|
||
Bothof RJ,
|
||
van Riessen T,
|
||
Brands WJ,
|
||
van der Kooi AJ,
|
||
de Visser M,
|
||
Voermans NC,
|
||
Pasterkamp RJ,
|
||
Veldink JH,
|
||
van den Berg LH,
|
||
van Es MA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Aging</span>
|
||
2016 Mar;39:220.e9-15.
|
||
Epub 2015 Dec 29
|
||
doi: 10.1016/j.neurobiolaging.2015.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26777436" target="_blank">26777436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyotrophic%20lateral%20sclerosis%2C%20susceptibility%20to%2C%2013)%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 (10)</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_AmyotrophicLateralSclerosis.pdf" target="_blank">Orphanet, Amyotrophic lateral 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/38934512">Metabolic Syndrome and Risk of Amyotrophic Lateral Sclerosis: Insights from a Large-Scale Prospective Study.</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/37043475">Genetic variability in sporadic amyotrophic lateral sclerosis.</a></div>
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van den Berg LH,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2C%20susceptibility%20to%2C%2013%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 (37)</a></div><h3 class="subhead">Therapy</h3>
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<span class="bold">PMID: </span><a href="/pubmed/39347895" target="_blank">39347895</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37534731">Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tian Y,
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Ma G,
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doi: 10.1001/jamaneurol.2021.2598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34459874" target="_blank">34459874</a><a href="/pmc/articles/PMC8406220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32814898">C9orf72 in myeloid cells suppresses STING-induced inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCauley ME,
|
||
O'Rourke JG,
|
||
Yáñez A,
|
||
Markman JL,
|
||
Ho R,
|
||
Wang X,
|
||
Chen S,
|
||
Lall D,
|
||
Jin M,
|
||
Muhammad AKMG,
|
||
Bell S,
|
||
Landeros J,
|
||
Valencia V,
|
||
Harms M,
|
||
Arditi M,
|
||
Jefferies C,
|
||
Baloh RH</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Sep;585(7823):96-101.
|
||
Epub 2020 Aug 19
|
||
doi: 10.1038/s41586-020-2625-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32814898" target="_blank">32814898</a><a href="/pmc/articles/PMC7484469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27982040">Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Chalabi A,
|
||
van den Berg LH,
|
||
Veldink J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2017 Feb;13(2):96-104.
|
||
Epub 2016 Dec 16
|
||
doi: 10.1038/nrneurol.2016.182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27982040" target="_blank">27982040</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2C%20susceptibility%20to%2C%2013%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 (39)</a></div></div>
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||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32911219">Suicidal behavior in individuals with amyotrophic lateral sclerosis: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva-Moraes MH,
|
||
Bispo-Torres AC,
|
||
Barouh JL,
|
||
Lucena PH,
|
||
Armani-Franceschi G,
|
||
Dorea-Bandeira I,
|
||
Vieira F,
|
||
Miranda-Scippa Â,
|
||
Quarantini LC,
|
||
Lucena R,
|
||
Bandeira ID</span><br />
|
||
<span class="medgenPMjournal">J Affect Disord</span>
|
||
2020 Dec 1;277:688-696.
|
||
Epub 2020 Sep 1
|
||
doi: 10.1016/j.jad.2020.08.066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32911219" target="_blank">32911219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32000403">Differential role of triggering receptors expressed on myeloid cells 2 R47H in 3 neurodegenerative diseases based on a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang B,
|
||
Li R,
|
||
Zhang Y,
|
||
Gao X</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2020 Jan;99(5):e18921.
|
||
doi: 10.1097/MD.0000000000018921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32000403" target="_blank">32000403</a><a href="/pmc/articles/PMC7004756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30883352">TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou SL,
|
||
Tan CC,
|
||
Hou XH,
|
||
Cao XP,
|
||
Tan L,
|
||
Yu JT</span><br />
|
||
<span class="medgenPMjournal">J Alzheimers Dis</span>
|
||
2019;68(3):1171-1184.
|
||
doi: 10.3233/JAD-181038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30883352" target="_blank">30883352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30863961">Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Q,
|
||
Chen X,
|
||
Chen Y,
|
||
Ou R,
|
||
Cao B,
|
||
Hou Y,
|
||
Zhang L,
|
||
Shang HF</span><br />
|
||
<span class="medgenPMjournal">Sci China Life Sci</span>
|
||
2019 Apr;62(4):517-525.
|
||
Epub 2019 Mar 7
|
||
doi: 10.1007/s11427-018-9453-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30863961" target="_blank">30863961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22329869">Spinal cord markers in ALS: diagnostic and biomarker considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bede P,
|
||
Bokde AL,
|
||
Byrne S,
|
||
Elamin M,
|
||
Fagan AJ,
|
||
Hardiman O</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler</span>
|
||
2012 Sep;13(5):407-15.
|
||
Epub 2012 Feb 13
|
||
doi: 10.3109/17482968.2011.649760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22329869" target="_blank">22329869</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%2C%20susceptibility%20to%2C%2013%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
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|
||
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||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
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||
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3149907%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3149907%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3149907%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Amyotrophic%20lateral%20sclerosis,%20susceptibility%20to,%2013" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<a href="/pubmed/20301623" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Amyotrophic%20lateral%20sclerosis,%20susceptibility%20to,%2013" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Amyotrophic%20lateral%20sclerosis,%20susceptibility%20to,%2013%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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