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<meta name="keywords" content="C5680103, col4a1 or col4a2-related cerebral angiopathy, col4a1 or col4a2-related cerebral small vessel disease, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1826071
|
||
ConceptID=C5680103
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">COL4A1 or COL4A2-related cerebral small vessel disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826071</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:">C5680103</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>COL4A1 or COL4A2-related cerebral angiopathy</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Orphanet:</td>
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<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477759">ORPHA477759</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_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/39016117">Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasparini S,
|
||
Balestrini S,
|
||
Saccaro LF,
|
||
Bacci G,
|
||
Panichella G,
|
||
Montomoli M,
|
||
Cantalupo G,
|
||
Bigoni S,
|
||
Mancano G,
|
||
Pellacani S,
|
||
Leuzzi V,
|
||
Volpi N,
|
||
Mari F,
|
||
Melani F,
|
||
Cavallin M,
|
||
Pisano T,
|
||
Porcedda G,
|
||
Vaglio A,
|
||
Mei D,
|
||
Barba C,
|
||
Parrini E,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32099.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1002/ajmg.c.32099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39016117" target="_blank">39016117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38366963">The importance of routine genetic testing in pediatric epilepsy surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker LL,
|
||
Makridis KL,
|
||
Abad-Perez AT,
|
||
Thomale UW,
|
||
Tietze A,
|
||
Elger CE,
|
||
Horn D,
|
||
Kaindl AM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Apr;9(2):800-807.
|
||
Epub 2024 Feb 17
|
||
doi: 10.1002/epi4.12916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38366963" target="_blank">38366963</a><a href="/pmc/articles/PMC10984286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27794444">Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeanne M,
|
||
Gould DB</span><br />
|
||
<span class="medgenPMjournal">Matrix Biol</span>
|
||
2017 Jan;57-58:29-44.
|
||
Epub 2016 Oct 26
|
||
doi: 10.1016/j.matbio.2016.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27794444" target="_blank">27794444</a><a href="/pmc/articles/PMC5328961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(col4a1%20or%20col4a2-related%20cerebral%20small%20vessel%20disease)%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 (16)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
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<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/38747292">Pathophysiology of cerebral small vessel disease: a journey through recent discoveries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dupré N,
|
||
Drieu A,
|
||
Joutel A</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2024 May 15;134(10)
|
||
doi: 10.1172/JCI172841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38747292" target="_blank">38747292</a><a href="/pmc/articles/PMC11093606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37486637">Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Akula SK,
|
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Chen AY,
|
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Neil JE,
|
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Shao DD,
|
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Mo A,
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Hylton NK,
|
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DiTroia S,
|
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Ganesh VS,
|
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Smith RS,
|
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O'Kane K,
|
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Yeh RC,
|
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Marciano JH,
|
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Kirkham S,
|
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Kenny CJ,
|
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Song JHT,
|
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Al Saffar M,
|
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Millan F,
|
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Harris DJ,
|
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Murphy AV,
|
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Klemp KC,
|
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Braddock SR,
|
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Brand H,
|
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Wong I,
|
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Talkowski ME,
|
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O'Donnell-Luria A,
|
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Lai A,
|
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Hill RS,
|
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Mochida GH,
|
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Doan RN,
|
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Barkovich AJ,
|
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Yang E,
|
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Amrom D,
|
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Andermann E,
|
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Poduri A,
|
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Walsh CA;
|
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Polymicrogyria Genetics Research Network</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
|
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2023 Sep 1;80(9):980-988.
|
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doi: 10.1001/jamaneurol.2023.2363.
|
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<span class="bold">PMID: </span><a href="/pubmed/37486637" target="_blank">37486637</a><a href="/pmc/articles/PMC10366952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36380532">The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu C,
|
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Wang M,
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Wang X,
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Li W,
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Li S,
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Chen B,
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Niu S,
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Tai H,
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Pan H,
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Zhang Z</span><br />
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<span class="medgenPMjournal">Brain</span>
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2023 Jun 1;146(6):2364-2376.
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doi: 10.1093/brain/awac426.
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<span class="bold">PMID: </span><a href="/pubmed/36380532" target="_blank">36380532</a><a href="/pmc/articles/PMC10232248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32318851">Heritable and non-heritable uncommon causes of stroke.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bersano A,
|
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Kraemer M,
|
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Burlina A,
|
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Mancuso M,
|
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Finsterer J,
|
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Sacco S,
|
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Salvarani C,
|
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Caputi L,
|
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Chabriat H,
|
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Oberstein SL,
|
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Federico A,
|
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Lasserve ET,
|
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Hunt D,
|
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Dichgans M,
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Arnold M,
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Debette S,
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Markus HS</span><br />
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<span class="medgenPMjournal">J Neurol</span>
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2021 Aug;268(8):2780-2807.
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Epub 2020 Apr 21
|
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doi: 10.1007/s00415-020-09836-x.
|
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<span class="bold">PMID: </span><a href="/pubmed/32318851" target="_blank">32318851</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/25719457">The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Meuwissen ME,
|
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Halley DJ,
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Smit LS,
|
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Lequin MH,
|
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Cobben JM,
|
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de Coo R,
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van Harssel J,
|
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Sallevelt S,
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Woldringh G,
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van der Knaap MS,
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de Vries LS,
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Mancini GM</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2015 Nov;17(11):843-53.
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Epub 2015 Feb 26
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doi: 10.1038/gim.2014.210.
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<span class="bold">PMID: </span><a href="/pubmed/25719457" target="_blank">25719457</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%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 (196)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37486637">Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Akula SK,
|
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Chen AY,
|
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Neil JE,
|
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Shao DD,
|
||
Mo A,
|
||
Hylton NK,
|
||
DiTroia S,
|
||
Ganesh VS,
|
||
Smith RS,
|
||
O'Kane K,
|
||
Yeh RC,
|
||
Marciano JH,
|
||
Kirkham S,
|
||
Kenny CJ,
|
||
Song JHT,
|
||
Al Saffar M,
|
||
Millan F,
|
||
Harris DJ,
|
||
Murphy AV,
|
||
Klemp KC,
|
||
Braddock SR,
|
||
Brand H,
|
||
Wong I,
|
||
Talkowski ME,
|
||
O'Donnell-Luria A,
|
||
Lai A,
|
||
Hill RS,
|
||
Mochida GH,
|
||
Doan RN,
|
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Barkovich AJ,
|
||
Yang E,
|
||
Amrom D,
|
||
Andermann E,
|
||
Poduri A,
|
||
Walsh CA;
|
||
Polymicrogyria Genetics Research Network</span><br />
|
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<span class="medgenPMjournal">JAMA Neurol</span>
|
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2023 Sep 1;80(9):980-988.
|
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doi: 10.1001/jamaneurol.2023.2363.
|
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<span class="bold">PMID: </span><a href="/pubmed/37486637" target="_blank">37486637</a><a href="/pmc/articles/PMC10366952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36380532">The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu C,
|
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Wang M,
|
||
Wang X,
|
||
Li W,
|
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Li S,
|
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Chen B,
|
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Niu S,
|
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Tai H,
|
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Pan H,
|
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Zhang Z</span><br />
|
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<span class="medgenPMjournal">Brain</span>
|
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2023 Jun 1;146(6):2364-2376.
|
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doi: 10.1093/brain/awac426.
|
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<span class="bold">PMID: </span><a href="/pubmed/36380532" target="_blank">36380532</a><a href="/pmc/articles/PMC10232248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32318851">Heritable and non-heritable uncommon causes of stroke.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bersano A,
|
||
Kraemer M,
|
||
Burlina A,
|
||
Mancuso M,
|
||
Finsterer J,
|
||
Sacco S,
|
||
Salvarani C,
|
||
Caputi L,
|
||
Chabriat H,
|
||
Oberstein SL,
|
||
Federico A,
|
||
Lasserve ET,
|
||
Hunt D,
|
||
Dichgans M,
|
||
Arnold M,
|
||
Debette S,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Aug;268(8):2780-2807.
|
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Epub 2020 Apr 21
|
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doi: 10.1007/s00415-020-09836-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32318851" target="_blank">32318851</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/25719457">The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meuwissen ME,
|
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Halley DJ,
|
||
Smit LS,
|
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Lequin MH,
|
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Cobben JM,
|
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de Coo R,
|
||
van Harssel J,
|
||
Sallevelt S,
|
||
Woldringh G,
|
||
van der Knaap MS,
|
||
de Vries LS,
|
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Mancini GM</span><br />
|
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<span class="medgenPMjournal">Genet Med</span>
|
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2015 Nov;17(11):843-53.
|
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Epub 2015 Feb 26
|
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doi: 10.1038/gim.2014.210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25719457" target="_blank">25719457</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/23919895">Migraine genetics: Part II.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Silberstein SD,
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Dodick DW</span><br />
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<span class="medgenPMjournal">Headache</span>
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2013 Sep;53(8):1218-29.
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doi: 10.1111/head.12169.
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<span class="bold">PMID: </span><a href="/pubmed/23919895" target="_blank">23919895</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%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 (192)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39355913">Plasma Proteomic Insights for Identification of Novel Predictors and Potential Drug Targets in Atrial Fibrillation: A Prospective Cohort Study and Mendelian Randomization Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Peng X,
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Li Y,
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Liu N,
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Xia S,
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Li X,
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Lai Y,
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He L,
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Sang C,
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Dong J,
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<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
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2024 Oct;17(10):e013037.
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<span class="bold">PMID: </span><a href="/pubmed/39355913" target="_blank">39355913</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37991085">CDK5R1, GSE1, HSPG2 and WDFY3 as indirect epigenetic-sensitive genes in atrial fibrillation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Infante T,
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Pepin ME,
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Ruocco A,
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Trama U,
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<span class="bold">PMID: </span><a href="/pubmed/37991085" target="_blank">37991085</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31269075">The effect of aging in primary human dermal fibroblasts.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lago JC,
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<div class="nl"><a target="_blank" href="/pubmed/29223997">More than meets the eye in a 'migraine'.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Evans JR,
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<span class="bold">PMID: </span><a href="/pubmed/29223997" target="_blank">29223997</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21732225">Treatment targets in intracerebral hemorrhage.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sangha N,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%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 (39)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39138551">Spatial multiomics reveals a subpopulation of fibroblasts associated with cancer stemness in human hepatocellular carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jing SY,
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Liu D,
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Feng N,
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Dong H,
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Wang HQ,
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Yan X,
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Chen XF,
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Qu MC,
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Lin P,
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Yi B,
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Feng F,
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Chen L,
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Wang HY,
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Li H,
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He YF</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/39138551" target="_blank">39138551</a><a href="/pmc/articles/PMC11320883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37868053">Identification and validation of key genes associated with pathogenesis and prognosis of gastric cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li A,
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Li Y,
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Li Y,
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Zhang M,
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Zhang H,
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Chen F</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37868053" target="_blank">37868053</a><a href="/pmc/articles/PMC10586292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37439037">A single-cell atlas of bovine skeletal muscle reveals mechanisms regulating intramuscular adipogenesis and fibrogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
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Gao P,
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Li C,
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Liu Q,
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Yao Z,
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Li Y,
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Zhang X,
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Sun J,
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Simintiras C,
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Welborn M,
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McMillin K,
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Oprescu S,
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Kuang S,
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Fu X</span><br />
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Epub 2023 Jul 12
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<span class="bold">PMID: </span><a href="/pubmed/37439037" target="_blank">37439037</a><a href="/pmc/articles/PMC10570087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31905170">The correlation and role analysis of COL4A1 and COL4A2 in hepatocarcinogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
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Zhang J,
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Chen Y,
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Sohel H,
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Ke X,
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Chen J,
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Li YX</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/31905170" target="_blank">31905170</a><a href="/pmc/articles/PMC6977693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/25719457">The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Meuwissen ME,
|
||
Halley DJ,
|
||
Smit LS,
|
||
Lequin MH,
|
||
Cobben JM,
|
||
de Coo R,
|
||
van Harssel J,
|
||
Sallevelt S,
|
||
Woldringh G,
|
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van der Knaap MS,
|
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de Vries LS,
|
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Mancini GM</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2015 Nov;17(11):843-53.
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Epub 2015 Feb 26
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doi: 10.1038/gim.2014.210.
|
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<span class="bold">PMID: </span><a href="/pubmed/25719457" target="_blank">25719457</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%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 (139)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37439037">A single-cell atlas of bovine skeletal muscle reveals mechanisms regulating intramuscular adipogenesis and fibrogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
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Gao P,
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Li C,
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Liu Q,
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Yao Z,
|
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Li Y,
|
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Zhang X,
|
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Sun J,
|
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Simintiras C,
|
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Welborn M,
|
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McMillin K,
|
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Oprescu S,
|
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Kuang S,
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Fu X</span><br />
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<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
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2023 Oct;14(5):2152-2167.
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Epub 2023 Jul 12
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doi: 10.1002/jcsm.13292.
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<span class="bold">PMID: </span><a href="/pubmed/37439037" target="_blank">37439037</a><a href="/pmc/articles/PMC10570087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37312623">Spatial transcriptomics combined with single-cell RNA-sequencing unravels the complex inflammatory cell network in atopic dermatitis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mitamura Y,
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Reiger M,
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Kim J,
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Xiao Y,
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Zhakparov D,
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Tan G,
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Rückert B,
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Rinaldi AO,
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Baerenfaller K,
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Akdis M,
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Brüggen MC,
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Nadeau KC,
|
||
Brunner PM,
|
||
Roqueiro D,
|
||
Traidl-Hoffmann C,
|
||
Akdis CA</span><br />
|
||
<span class="medgenPMjournal">Allergy</span>
|
||
2023 Aug;78(8):2215-2231.
|
||
Epub 2023 Jun 14
|
||
doi: 10.1111/all.15781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37312623" target="_blank">37312623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36555389">Gene Expression Linked to Reepithelialization of Human Skin Wounds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ågren MS,
|
||
Litman T,
|
||
Eriksen JO,
|
||
Schjerling P,
|
||
Bzorek M,
|
||
Gjerdrum LMR</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Dec 12;23(24)
|
||
doi: 10.3390/ijms232415746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36555389" target="_blank">36555389</a><a href="/pmc/articles/PMC9779194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28846756">Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borlot F,
|
||
Regan BM,
|
||
Bassett AS,
|
||
Stavropoulos DJ,
|
||
Andrade DM</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2017 Nov 1;74(11):1301-1311.
|
||
doi: 10.1001/jamaneurol.2017.1775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28846756" target="_blank">28846756</a><a href="/pmc/articles/PMC5710585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25719457">The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meuwissen ME,
|
||
Halley DJ,
|
||
Smit LS,
|
||
Lequin MH,
|
||
Cobben JM,
|
||
de Coo R,
|
||
van Harssel J,
|
||
Sallevelt S,
|
||
Woldringh G,
|
||
van der Knaap MS,
|
||
de Vries LS,
|
||
Mancini GM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2015 Nov;17(11):843-53.
|
||
Epub 2015 Feb 26
|
||
doi: 10.1038/gim.2014.210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25719457" target="_blank">25719457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%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 (170)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/35699195">Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whittaker E,
|
||
Thrippleton S,
|
||
Chong LYW,
|
||
Collins VG,
|
||
Ferguson AC,
|
||
Henshall DE,
|
||
Lancastle E,
|
||
Wilkinson T,
|
||
Wilson B,
|
||
Wilson K,
|
||
Sudlow C,
|
||
Wardlaw J,
|
||
Rannikmäe K</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2022 Jun 21;11(12):e025629.
|
||
Epub 2022 Jun 14
|
||
doi: 10.1161/JAHA.121.025629.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699195" target="_blank">35699195</a><a href="/pmc/articles/PMC9238640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34632546">MicroRNAs in oral fluids (saliva and gingival crevicular fluid) as biomarkers in orthodontics: systematic review and integrated bioinformatic analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapoor P,
|
||
Chowdhry A,
|
||
Bagga DK,
|
||
Bhargava D,
|
||
Aishwarya S</span><br />
|
||
<span class="medgenPMjournal">Prog Orthod</span>
|
||
2021 Oct 11;22(1):31.
|
||
doi: 10.1186/s40510-021-00377-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34632546" target="_blank">34632546</a><a href="/pmc/articles/PMC8502526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32842921">Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rannikmäe K,
|
||
Henshall DE,
|
||
Thrippleton S,
|
||
Ginj Kong Q,
|
||
Chong M,
|
||
Grami N,
|
||
Kuan I,
|
||
Wilkinson T,
|
||
Wilson B,
|
||
Wilson K,
|
||
Paré G,
|
||
Sudlow C</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 Oct;51(10):3007-3017.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1161/STROKEAHA.120.029517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32842921" target="_blank">32842921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28254515">Hereditary cerebral small vessel disease and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Søndergaard CB,
|
||
Nielsen JE,
|
||
Hansen CK,
|
||
Christensen H</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2017 Apr;155:45-57.
|
||
Epub 2017 Feb 22
|
||
doi: 10.1016/j.clineuro.2017.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28254515" target="_blank">28254515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20558831">COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanfranconi S,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2010 Aug;41(8):e513-8.
|
||
Epub 2010 Jun 17
|
||
doi: 10.1161/STROKEAHA.110.581918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20558831" target="_blank">20558831</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5680103%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C5680103%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5680103%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=477759" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(col4a1%20or%20col4a2-related%20cerebral%20small%20vessel%20disease)%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease" target="_blank">MedlinePlus</a></li></ul></div>
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|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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|
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
<a href="/pubmed?term=COL4A1%20or%20COL4A2-related%20cerebral%20small%20vessel%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
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||
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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||
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826071" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5680103[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5680103[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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||
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1826071" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1826071" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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||
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||
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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|
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Turn Off
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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|
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<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cde909a68b6b5afc9b32d8">COL4A1 or COL4A2-related cerebral small vessel disease</a>
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