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<meta name="keywords" content="C3553358, coenzyme q10 deficiency caused by mutation in pdss2, coenzyme q10 deficiency, primary, 3, coenzyme q10 deficiency, primary, type 3, coq10d3, disease or syndrome, pdss2, pdss2 coenzyme q10 deficiency, pdss2-related coenzyme q10 deficiency, 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="Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=766272
|
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ConceptID=C3553358
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Coenzyme Q10 deficiency, primary, 3<span class="h1sub">(COQ10D3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766272</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:">C3553358</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>COQ10D3; PDSS2-Related Coenzyme Q10 Deficiency</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="PDSS2 - ID: 57107 - NCBI Gene" href="/gene/57107" class="medgenPMinfo">PDSS2</a> (6q21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013838" target="_blank">MONDO:0013838</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614652" target="_blank">614652</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<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_10308"><div><strong>Nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10308</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.">C0027726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%2010308%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_164077"><div><strong>Bilateral tonic-clonic seizure with focal onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164077</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.">C0877017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164077">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20focal%20onset%22%5BClinical%20Features%5D%20OR%20164077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1716066"><div><strong>Focal motor status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716066</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.">C1396824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716066">Feature record</a> | <a href="/medgen?term=%22Focal%20motor%20status%20epilepticus%22%5BClinical%20Features%5D%20OR%201716066%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892349"><div><strong>Focal T2 hyperintense basal ganglia lesion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892349</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.">C4024926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892349">Feature record</a> | <a href="/medgen?term=%22Focal%20T2%20hyperintense%20basal%20ganglia%20lesion%22%5BClinical%20Features%5D%20OR%20892349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_412209"><div><strong>Neonatal hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412209</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.">C2267233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412209">Feature record</a> | <a href="/medgen?term=%22Neonatal%20hypotonia%22%5BClinical%20Features%5D%20OR%20412209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4451"><div><strong>Edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4451</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.">C0013604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4451">Feature record</a> | <a href="/medgen?term=%22Edema%22%5BClinical%20Features%5D%20OR%204451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68694"><div><strong>Hypoalbuminemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68694</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.">C0239981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction in the concentration of albumin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68694">Feature record</a> | <a href="/medgen?term=%22Hypoalbuminemia%22%5BClinical%20Features%5D%20OR%2068694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</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.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_764872"><div><strong>Decreased level of coenzyme Q10 in skeletal muscle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764872</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.">C3551958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/764872">Feature record</a> | <a href="/medgen?term=%22Decreased%20level%20of%20coenzyme%20Q10%20in%20skeletal%20muscle%22%5BClinical%20Features%5D%20OR%20764872%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%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">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_764872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased level of coenzyme Q10 in skeletal muscle</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoalbuminemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</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_10308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</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_412209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal hypotonia</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_164077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure with focal onset</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1716066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal motor status epilepticus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal T2 hyperintense basal ganglia lesion</a></span></li></ul></li></ul></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/35483523">Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drovandi S,
|
||
Lipska-Ziętkiewicz BS,
|
||
Ozaltin F,
|
||
Emma F,
|
||
Gulhan B,
|
||
Boyer O,
|
||
Trautmann A,
|
||
Ziętkiewicz S,
|
||
Xu H,
|
||
Shen Q,
|
||
Rao J,
|
||
Riedhammer KM,
|
||
Heemann U,
|
||
Hoefele J,
|
||
Stenton SL,
|
||
Tsygin AN,
|
||
Ng KH,
|
||
Fomina S,
|
||
Benetti E,
|
||
Aurelle M,
|
||
Prikhodina L,
|
||
Schijvens AM,
|
||
Tabatabaeifar M,
|
||
Jankowski M,
|
||
Baiko S,
|
||
Mao J,
|
||
Feng C,
|
||
Deng F,
|
||
Rousset-Rouviere C,
|
||
Stańczyk M,
|
||
Bałasz-Chmielewska I,
|
||
Fila M,
|
||
Durkan AM,
|
||
Levart TK,
|
||
Dursun I,
|
||
Esfandiar N,
|
||
Haas D,
|
||
Bjerre A,
|
||
Anarat A,
|
||
Benz MR,
|
||
Talebi S,
|
||
Hooman N,
|
||
Ariceta G;
|
||
PodoNet Consortium;
|
||
mitoNET Consortium;
|
||
CCGKDD Consortium,
|
||
Schaefer F</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2022 Sep;102(3):592-603.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1016/j.kint.2022.02.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483523" target="_blank">35483523</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(coenzyme%20q10%20deficiency%2C%20primary%2C%203)%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 (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608922">Coenzyme Q10 for heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Saadi T,
|
||
Assaf Y,
|
||
Farwati M,
|
||
Turkmani K,
|
||
Al-Mouakeh A,
|
||
Shebli B,
|
||
Khoja M,
|
||
Essali A,
|
||
Madmani ME</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Feb 3;(2)(2):CD008684.
|
||
doi: 10.1002/14651858.CD008684.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608922" target="_blank">35608922</a><a href="/pmc/articles/PMC8092430" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31751168">Design of High-Throughput Screening of Natural Extracts to Identify Molecules Bypassing Primary Coenzyme Q Deficiency in Saccharomyces cerevisiae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berenguel Hernández AM,
|
||
de la Cruz M,
|
||
Alcázar-Fabra M,
|
||
Prieto-Rodríguez A,
|
||
Sánchez-Cuesta A,
|
||
Martin J,
|
||
Tormo JR,
|
||
Rodríguez-Aguilera JC,
|
||
Cortés-Rodríguez AB,
|
||
Navas P,
|
||
Reyes F,
|
||
Vicente F,
|
||
Genilloud O,
|
||
Santos-Ocaña C</span><br />
|
||
<span class="medgenPMjournal">SLAS Discov</span>
|
||
2020 Mar;25(3):299-309.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1177/2472555219877185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31751168" target="_blank">31751168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31024065">Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerqua C,
|
||
Casarin A,
|
||
Pierrel F,
|
||
Vazquez Fonseca L,
|
||
Viola G,
|
||
Salviati L,
|
||
Trevisson E</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Apr 25;9(1):6553.
|
||
doi: 10.1038/s41598-019-43014-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31024065" target="_blank">31024065</a><a href="/pmc/articles/PMC6484000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30030365">Clinical syndromes associated with Coenzyme Q(10) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alcázar-Fabra M,
|
||
Trevisson E,
|
||
Brea-Calvo G</span><br />
|
||
<span class="medgenPMjournal">Essays Biochem</span>
|
||
2018 Jul 20;62(3):377-398.
|
||
doi: 10.1042/EBC20170107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30030365" target="_blank">30030365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25091424">Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desbats MA,
|
||
Lunardi G,
|
||
Doimo M,
|
||
Trevisson E,
|
||
Salviati L</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Jan;38(1):145-56.
|
||
Epub 2014 Aug 5
|
||
doi: 10.1007/s10545-014-9749-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25091424" target="_blank">25091424</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coenzyme%20Q10%20deficiency%2C%20primary%2C%203%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38353291">Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonuç Kartal G,
|
||
Koç Yekedüz M,
|
||
Köse E,
|
||
Eminoğlu FT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2024 Mar 25;37(3):260-270.
|
||
Epub 2024 Feb 2
|
||
doi: 10.1515/jpem-2023-0490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38353291" target="_blank">38353291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35643375">Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drovandi S,
|
||
Lipska-Ziętkiewicz BS,
|
||
Ozaltin F,
|
||
Emma F,
|
||
Gulhan B,
|
||
Boyer O,
|
||
Trautmann A,
|
||
Xu H,
|
||
Shen Q,
|
||
Rao J,
|
||
Riedhammer KM,
|
||
Heemann U,
|
||
Hoefele J,
|
||
Stenton SL,
|
||
Tsygin AN,
|
||
Ng KH,
|
||
Fomina S,
|
||
Benetti E,
|
||
Aurelle M,
|
||
Prikhodina L,
|
||
Schreuder MF,
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Tabatabaeifar M,
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Jankowski M,
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Sun S,
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Deng F,
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Clavé S,
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Stańczyk M,
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Fila M,
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Durkan AM,
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Levart TK,
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Dursun I,
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Esfandiar N,
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Haas D,
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Bjerre A,
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Anarat A,
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Benz MR,
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Talebi S,
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Hooman N,
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Ariceta G;
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PodoNet Consortium;
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mitoNET Consortium;
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CCGKDD Consortium,
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<div class="nl"><a target="_blank" href="/pubmed/35483523">Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Drovandi S,
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Lipska-Ziętkiewicz BS,
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Emma F,
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Gulhan B,
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Trautmann A,
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Xu H,
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Rao J,
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Ng KH,
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Benetti E,
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Aurelle M,
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Fila M,
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Levart TK,
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Dursun I,
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Esfandiar N,
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Bjerre A,
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Anarat A,
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Benz MR,
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Talebi S,
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Hooman N,
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Ariceta G;
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<div class="nl"><a target="_blank" href="/pubmed/25091424">Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Desbats MA,
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Lunardi G,
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Doimo M,
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Trevisson E,
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Salviati L</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coenzyme%20Q10%20deficiency%2C%20primary%2C%203%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 (11)</a></div><h3 class="subhead">Therapy</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ho MJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coenzyme%20Q10%20deficiency%2C%20primary%2C%203%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31821167">A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Olgac A,
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Öztoprak Ü,
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Kasapkara ÇS,
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Kılıç M,
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<span class="bold">PMID: </span><a href="/pubmed/31821167" target="_blank">31821167</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30548255">A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Krygier M,
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<div class="nl"><a target="_blank" href="/pubmed/29032433">Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iványi B,
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Rácz GZ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coenzyme%20Q10%20deficiency%2C%20primary%2C%203%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38973597">New variants expand the neurological phenotype of COQ7 deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fabra MA,
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López LC,
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<span class="bold">PMID: </span><a href="/pubmed/38973597" target="_blank">38973597</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/35643375">Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Drovandi S,
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Lipska-Ziętkiewicz BS,
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Ozaltin F,
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Emma F,
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Gulhan B,
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Boyer O,
|
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Trautmann A,
|
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Xu H,
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Shen Q,
|
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Rao J,
|
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Riedhammer KM,
|
||
Heemann U,
|
||
Hoefele J,
|
||
Stenton SL,
|
||
Tsygin AN,
|
||
Ng KH,
|
||
Fomina S,
|
||
Benetti E,
|
||
Aurelle M,
|
||
Prikhodina L,
|
||
Schreuder MF,
|
||
Tabatabaeifar M,
|
||
Jankowski M,
|
||
Baiko S,
|
||
Mao J,
|
||
Feng C,
|
||
Liu C,
|
||
Sun S,
|
||
Deng F,
|
||
Wang X,
|
||
Clavé S,
|
||
Stańczyk M,
|
||
Bałasz-Chmielewska I,
|
||
Fila M,
|
||
Durkan AM,
|
||
Levart TK,
|
||
Dursun I,
|
||
Esfandiar N,
|
||
Haas D,
|
||
Bjerre A,
|
||
Anarat A,
|
||
Benz MR,
|
||
Talebi S,
|
||
Hooman N,
|
||
Ariceta G;
|
||
PodoNet Consortium;
|
||
mitoNET Consortium;
|
||
CCGKDD Consortium,
|
||
Schaefer F</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2022 Sep;102(3):604-612.
|
||
Epub 2022 May 25
|
||
doi: 10.1016/j.kint.2022.04.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35643375" target="_blank">35643375</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483523">Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drovandi S,
|
||
Lipska-Ziętkiewicz BS,
|
||
Ozaltin F,
|
||
Emma F,
|
||
Gulhan B,
|
||
Boyer O,
|
||
Trautmann A,
|
||
Ziętkiewicz S,
|
||
Xu H,
|
||
Shen Q,
|
||
Rao J,
|
||
Riedhammer KM,
|
||
Heemann U,
|
||
Hoefele J,
|
||
Stenton SL,
|
||
Tsygin AN,
|
||
Ng KH,
|
||
Fomina S,
|
||
Benetti E,
|
||
Aurelle M,
|
||
Prikhodina L,
|
||
Schijvens AM,
|
||
Tabatabaeifar M,
|
||
Jankowski M,
|
||
Baiko S,
|
||
Mao J,
|
||
Feng C,
|
||
Deng F,
|
||
Rousset-Rouviere C,
|
||
Stańczyk M,
|
||
Bałasz-Chmielewska I,
|
||
Fila M,
|
||
Durkan AM,
|
||
Levart TK,
|
||
Dursun I,
|
||
Esfandiar N,
|
||
Haas D,
|
||
Bjerre A,
|
||
Anarat A,
|
||
Benz MR,
|
||
Talebi S,
|
||
Hooman N,
|
||
Ariceta G;
|
||
PodoNet Consortium;
|
||
mitoNET Consortium;
|
||
CCGKDD Consortium,
|
||
Schaefer F</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2022 Sep;102(3):592-603.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1016/j.kint.2022.02.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483523" target="_blank">35483523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31821167">A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olgac A,
|
||
Öztoprak Ü,
|
||
Kasapkara ÇS,
|
||
Kılıç M,
|
||
Yüksel D,
|
||
Derinkuyu EB,
|
||
Taşçı Yıldız Y,
|
||
Ceylaner S,
|
||
Ezgu FS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2020 Jan 28;33(1):165-170.
|
||
doi: 10.1515/jpem-2019-0245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31821167" target="_blank">31821167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25091424">Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desbats MA,
|
||
Lunardi G,
|
||
Doimo M,
|
||
Trevisson E,
|
||
Salviati L</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Jan;38(1):145-56.
|
||
Epub 2014 Aug 5
|
||
doi: 10.1007/s10545-014-9749-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25091424" target="_blank">25091424</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coenzyme%20Q10%20deficiency%2C%20primary%2C%203%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 (6)</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/35483523">Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drovandi S,
|
||
Lipska-Ziętkiewicz BS,
|
||
Ozaltin F,
|
||
Emma F,
|
||
Gulhan B,
|
||
Boyer O,
|
||
Trautmann A,
|
||
Ziętkiewicz S,
|
||
Xu H,
|
||
Shen Q,
|
||
Rao J,
|
||
Riedhammer KM,
|
||
Heemann U,
|
||
Hoefele J,
|
||
Stenton SL,
|
||
Tsygin AN,
|
||
Ng KH,
|
||
Fomina S,
|
||
Benetti E,
|
||
Aurelle M,
|
||
Prikhodina L,
|
||
Schijvens AM,
|
||
Tabatabaeifar M,
|
||
Jankowski M,
|
||
Baiko S,
|
||
Mao J,
|
||
Feng C,
|
||
Deng F,
|
||
Rousset-Rouviere C,
|
||
Stańczyk M,
|
||
Bałasz-Chmielewska I,
|
||
Fila M,
|
||
Durkan AM,
|
||
Levart TK,
|
||
Dursun I,
|
||
Esfandiar N,
|
||
Haas D,
|
||
Bjerre A,
|
||
Anarat A,
|
||
Benz MR,
|
||
Talebi S,
|
||
Hooman N,
|
||
Ariceta G;
|
||
PodoNet Consortium;
|
||
mitoNET Consortium;
|
||
CCGKDD Consortium,
|
||
Schaefer F</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2022 Sep;102(3):592-603.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1016/j.kint.2022.02.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483523" target="_blank">35483523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608922">Coenzyme Q10 for heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Saadi T,
|
||
Assaf Y,
|
||
Farwati M,
|
||
Turkmani K,
|
||
Al-Mouakeh A,
|
||
Shebli B,
|
||
Khoja M,
|
||
Essali A,
|
||
Madmani ME</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Feb 3;(2)(2):CD008684.
|
||
doi: 10.1002/14651858.CD008684.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608922" target="_blank">35608922</a><a href="/pmc/articles/PMC8092430" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24049047">Coenzyme Q10 for heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madmani ME,
|
||
Yusuf Solaiman A,
|
||
Tamr Agha K,
|
||
Madmani Y,
|
||
Shahrour Y,
|
||
Essali A,
|
||
Kadro W</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Jun 2;(6):CD008684.
|
||
doi: 10.1002/14651858.CD008684.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24049047" target="_blank">24049047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19821418">Blood pressure lowering efficacy of coenzyme Q10 for primary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ho MJ,
|
||
Bellusci A,
|
||
Wright JM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2009 Oct 7;(4):CD007435.
|
||
doi: 10.1002/14651858.CD007435.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19821418" target="_blank">19821418</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Coenzyme%20Q10%20deficiency%2C%20primary%2C%203%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3553358%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (46)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553358%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553358%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (55)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553358%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3553358%5bDISCUI%5d" target="_blank">See all (64)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614652" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Coenzyme%20Q10%20deficiency,%20primary,%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(coenzyme%20q10%20deficiency%2C%20primary%2C%203)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=610564" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=57107[geneid]" target="_blank">View PDSS2 variations in ClinVar</a></li><li><a href="/nuccore/260656000" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614652" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/COENZYME+Q10+DEFICIENCY%2C+PRIMARY%2C+3/7995" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/coenzyme_q10_deficiency_primary_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Coenzyme%20Q10%20deficiency,%20primary,%203" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18379/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/28125198" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Coenzyme%20Q10%20deficiency,%20primary,%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Coenzyme%20Q10%20deficiency,%20primary,%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=766272" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=766272" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3553358[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3553358[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=766272" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=766272" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=766272" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=766272" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=766272" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=766272" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<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">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<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">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<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=67cc321984f3725e5966246c">Coenzyme Q10 deficiency, primary, 3</a>
|
||
<div class="ralinkpop offscreen_noflow">Coenzyme Q10 deficiency, primary, 3<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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