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<meta name="keywords" content="C4693450, combined oxidative phosphorylation deficiency 34, coxpd34, disease or syndrome, mrps7, syndromic sensorineural deafness due to combined oxidative phosphorylation defect, syndromic sensorineural deafness due to coxpd, syndromic sensorineural deafness due to coxpd (combined oxidative phosphorylation defect), syndromic sensorineural hearing loss due to coxpd, syndromic sensorineural hearing loss due to coxpd (combined oxidative phosphorylation defect), 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="COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1631307
|
||
ConceptID=C4693450
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Combined oxidative phosphorylation deficiency 34<span class="h1sub">(COXPD34)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631307</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:">C4693450</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>COXPD34; Syndromic sensorineural deafness due to combined oxidative phosphorylation defect</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) (1260133007); Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (1260133007); Syndromic sensorineural deafness due to COXPD (combined oxidative phosphorylation defect) (1260133007)</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="MRPS7 - ID: 51081 - NCBI Gene" href="/gene/51081" class="medgenPMinfo">MRPS7</a> (17q25.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054741" target="_blank">MONDO:0054741</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617872" target="_blank">617872</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_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">COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</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_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</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.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_398225"><div><strong>Hepatic steatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398225</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.">C2711227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatosis is a term used to denote lipid accumulation within hepatocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398225">Feature record</a> | <a href="/medgen?term=%22Hepatic%20steatosis%22%5BClinical%20Features%5D%20OR%20398225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356101"><div><strong>Congenital sensorineural hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356101</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.">C1865866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356101">Feature record</a> | <a href="/medgen?term=%22Congenital%20sensorineural%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%20356101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18281"><div><strong>Pancytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</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.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18281">Feature record</a> | <a href="/medgen?term=%22Pancytopenia%22%5BClinical%20Features%5D%20OR%2018281%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1717"><div><strong>Lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717</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.">C0001125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717">Feature record</a> | <a href="/medgen?term=%22Lactic%20acidosis%22%5BClinical%20Features%5D%20OR%201717%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760252"><div><strong>Increased blood urea nitrogen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760252</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.">C0151539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of nitrogen in the form of urea in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760252">Feature record</a> | <a href="/medgen?term=%22Increased%20blood%20urea%20nitrogen%22%5BClinical%20Features%5D%20OR%20760252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%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_108325"><div><strong>Elevated circulating thyroid-stimulating hormone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108325</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.">C0586553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108325">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20thyroid-stimulating%20hormone%20concentration%22%5BClinical%20Features%5D%20OR%20108325%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_184926"><div><strong>Hypergonadotropic hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>184926</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.">C0948896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/184926">Feature record</a> | <a href="/medgen?term=%22Hypergonadotropic%20hypogonadism%22%5BClinical%20Features%5D%20OR%20184926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854614"><div><strong>Primary adrenal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854614</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.">C3887896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854614">Feature record</a> | <a href="/medgen?term=%22Primary%20adrenal%20insufficiency%22%5BClinical%20Features%5D%20OR%20854614%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia</a></span></li></ul></li><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_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased blood urea nitrogen</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic acidosis</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_398225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic steatosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating thyroid-stimulating hormone concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_184926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypergonadotropic hypogonadism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary adrenal insufficiency</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4540031[DISCUI]&test_type=Clinical" ref="ncbi_uid=1626645">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1626645" ref="ncbi_uid=1626645">V</a></span></span><span class="TLline"><a href="/medgen/1626645" ref="tree=GTR&ncbi_uid=1626645&link_uid=1626645" title="View MedGen record for 'Combined oxidative phosphorylation deficiency'">Combined oxidative phosphorylation deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864843[DISCUI]&test_type=Clinical" ref="ncbi_uid=400626">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400626" target="_blank" href="/omim/609204">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400626" ref="ncbi_uid=400626">V</a></span></span><span class="TLline"><a href="/medgen/400626" ref="tree=GTR&ncbi_uid=400626&link_uid=400626" title="View MedGen record for 'Combined oxidative phosphorylation defect type 2'">Combined oxidative phosphorylation defect type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857682[DISCUI]&test_type=Clinical" ref="ncbi_uid=387884">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387884" target="_blank" href="/omim/602389">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387884" ref="ncbi_uid=387884">V</a></span></span><span class="TLline"><a href="/medgen/387884" ref="tree=GTR&ncbi_uid=387884&link_uid=387884" title="View MedGen record for 'Combined oxidative phosphorylation defect type 4'">Combined oxidative phosphorylation defect type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150801[DISCUI]&test_type=Clinical" ref="ncbi_uid=462151">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462151" target="_blank" href="/omim/613541">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462151" ref="ncbi_uid=462151">V</a></span></span><span class="TLline"><a href="/medgen/462151" ref="tree=GTR&ncbi_uid=462151&link_uid=462151" title="View MedGen record for 'Combined oxidative phosphorylation defect type 7'">Combined oxidative phosphorylation defect type 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4518839[DISCUI]&test_type=Clinical" ref="ncbi_uid=1377817">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1377817" target="_blank" href="/omim/612035">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK608563/" ref="ncbi_uid=1377817">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1377817" ref="ncbi_uid=1377817">V</a></span></span><span class="TLline"><a href="/medgen/1377817" ref="tree=GTR&ncbi_uid=1377817&link_uid=1377817" title="View MedGen record for 'Combined oxidative phosphorylation defect type 8'">Combined oxidative phosphorylation defect type 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4706315[DISCUI]&test_type=Clinical" ref="ncbi_uid=1634481">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1634481" target="_blank" href="/omim/607118">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1634481" ref="ncbi_uid=1634481">V</a></span></span><span class="TLline"><a href="/medgen/1634481" ref="tree=GTR&ncbi_uid=1634481&link_uid=1634481" title="View MedGen record for 'Combined oxidative phosphorylation defect type 9'">Combined oxidative phosphorylation defect type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5190991[DISCUI]&test_type=Clinical" ref="ncbi_uid=1682397">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1682397" target="_blank" href="/omim/614917">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1682397" ref="ncbi_uid=1682397">V</a></span></span><span class="TLline"><a href="/medgen/1682397" ref="tree=GTR&ncbi_uid=1682397&link_uid=1682397" title="View MedGen record for 'Combined oxidative phosphorylation defect type 11'">Combined oxidative phosphorylation defect type 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4706283[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631854">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631854" target="_blank" href="/omim/610316">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631854" ref="ncbi_uid=1631854">V</a></span></span><span class="TLline"><a href="/medgen/1631854" ref="tree=GTR&ncbi_uid=1631854&link_uid=1631854" title="View MedGen record for 'Combined oxidative phosphorylation defect type 13'">Combined oxidative phosphorylation defect type 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4755312[DISCUI]&test_type=Clinical" ref="ncbi_uid=1663069">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1663069" target="_blank" href="/omim/611592">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK538658/" ref="ncbi_uid=1663069">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1663069" ref="ncbi_uid=1663069">V</a></span></span><span class="TLline"><a href="/medgen/1663069" ref="tree=GTR&ncbi_uid=1663069&link_uid=1663069" title="View MedGen record for 'Combined oxidative phosphorylation defect type 14'">Combined oxidative phosphorylation defect type 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4706313[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646555">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646555" target="_blank" href="/omim/611766">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646555" ref="ncbi_uid=1646555">V</a></span></span><span class="TLline"><a href="/medgen/1646555" ref="tree=GTR&ncbi_uid=1646555&link_uid=1646555" title="View MedGen record for 'Combined oxidative phosphorylation defect type 15'">Combined oxidative phosphorylation defect type 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809526[DISCUI]&test_type=Clinical" ref="ncbi_uid=815856">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815856" target="_blank" href="/omim/605367">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815856" ref="ncbi_uid=815856">V</a></span></span><span class="TLline"><a href="/medgen/815856" ref="tree=GTR&ncbi_uid=815856&link_uid=815856" title="View MedGen record for 'Combined oxidative phosphorylation defect type 17'">Combined oxidative phosphorylation defect type 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014660[DISCUI]&test_type=Clinical" ref="ncbi_uid=863097">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863097" target="_blank" href="/omim/612802">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863097" ref="ncbi_uid=863097">V</a></span></span><span class="TLline"><a href="/medgen/863097" ref="tree=GTR&ncbi_uid=863097&link_uid=863097" title="View MedGen record for 'Combined oxidative phosphorylation defect type 20'">Combined oxidative phosphorylation defect type 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4706316[DISCUI]&test_type=Clinical" ref="ncbi_uid=1638633">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1638633" target="_blank" href="/omim/612805">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1638633" ref="ncbi_uid=1638633">V</a></span></span><span class="TLline"><a href="/medgen/1638633" ref="tree=GTR&ncbi_uid=1638633&link_uid=1638633" title="View MedGen record for 'Combined oxidative phosphorylation defect type 21'">Combined oxidative phosphorylation defect type 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567743[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799166">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799166" target="_blank" href="/omim/608536">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1799166" ref="ncbi_uid=1799166">V</a></span></span><span class="TLline"><a href="/medgen/1799166" ref="tree=GTR&ncbi_uid=1799166&link_uid=1799166" title="View MedGen record for 'Combined oxidative phosphorylation defect type 23'">Combined oxidative phosphorylation defect type 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015643[DISCUI]&test_type=Clinical" ref="ncbi_uid=864080">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864080" target="_blank" href="/omim/612803">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=864080" ref="ncbi_uid=864080">V</a></span></span><span class="TLline"><a href="/medgen/864080" ref="tree=GTR&ncbi_uid=864080&link_uid=864080" title="View MedGen record for 'Combined oxidative phosphorylation defect type 24'">Combined oxidative phosphorylation defect type 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567742[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799165">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799165" target="_blank" href="/omim/609728">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1799165" ref="ncbi_uid=1799165">V</a></span></span><span class="TLline"><a href="/medgen/1799165" ref="tree=GTR&ncbi_uid=1799165&link_uid=1799165" title="View MedGen record for 'Combined oxidative phosphorylation defect type 25'">Combined oxidative phosphorylation defect type 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799164">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799164" target="_blank" href="/omim/611023">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1799164" ref="ncbi_uid=1799164">V</a></span></span><span class="TLline"><a href="/medgen/1799164" ref="tree=GTR&ncbi_uid=1799164&link_uid=1799164" title="View MedGen record for 'Combined oxidative phosphorylation defect type 26'">Combined oxidative phosphorylation defect type 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567608[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799031" target="_blank" href="/omim/612800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1799031" ref="ncbi_uid=1799031">V</a></span></span><span class="TLline"><a href="/medgen/1799031" ref="tree=GTR&ncbi_uid=1799031&link_uid=1799031" title="View MedGen record for 'Combined oxidative phosphorylation defect type 27'">Combined oxidative phosphorylation defect type 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567605[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799028">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799028" target="_blank" href="/omim/615423">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1799028" ref="ncbi_uid=1799028">V</a></span></span><span class="TLline"><a href="/medgen/1799028" ref="tree=GTR&ncbi_uid=1799028&link_uid=1799028" title="View MedGen record for 'Combined oxidative phosphorylation defect type 30'">Combined oxidative phosphorylation defect type 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810055[DISCUI]&test_type=Clinical" ref="ncbi_uid=816385">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816385" target="_blank" href="/omim/613311">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816385" ref="ncbi_uid=816385">V</a></span></span><span class="TLline"><a href="/medgen/816385" ref="tree=GTR&ncbi_uid=816385&link_uid=816385" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 19'">Combined oxidative phosphorylation deficiency 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015062[DISCUI]&test_type=Clinical" ref="ncbi_uid=863499">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863499" target="_blank" href="/omim/164360">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863499" ref="ncbi_uid=863499">V</a></span></span><span class="TLline"><a href="/medgen/863499" ref="tree=GTR&ncbi_uid=863499&link_uid=863499" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 22'">Combined oxidative phosphorylation deficiency 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5569081[DISCUI]&test_type=Clinical" ref="ncbi_uid=1800504">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1800504" target="_blank" href="/omim/611037">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1800504" ref="ncbi_uid=1800504">V</a></span></span><span class="TLline"><a href="/medgen/1800504" ref="tree=GTR&ncbi_uid=1800504&link_uid=1800504" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 28'">Combined oxidative phosphorylation deficiency 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567607[DISCUI]&test_type=Clinical" ref="ncbi_uid=1799030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799030" target="_blank" href="/omim/609063">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1799030" ref="ncbi_uid=1799030">V</a></span></span><span class="TLline"><a href="/medgen/1799030" ref="tree=GTR&ncbi_uid=1799030&link_uid=1799030" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 29'">Combined oxidative phosphorylation deficiency 29</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4540029[DISCUI]&test_type=Clinical" ref="ncbi_uid=1617600">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1617600" target="_blank" href="/omim/611994">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1617600" ref="ncbi_uid=1617600">V</a></span></span><span class="TLline"><a href="/medgen/1617600" ref="tree=GTR&ncbi_uid=1617600&link_uid=1617600" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 32'">Combined oxidative phosphorylation deficiency 32</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4540209[DISCUI]&test_type=Clinical" ref="ncbi_uid=1623699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1623699" target="_blank" href="/omim/601269">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1623699" ref="ncbi_uid=1623699">V</a></span></span><span class="TLline"><a href="/medgen/1623699" ref="tree=GTR&ncbi_uid=1623699&link_uid=1623699" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 33'">Combined oxidative phosphorylation deficiency 33</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693450[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631307">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631307" target="_blank" href="/omim/611974">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631307" ref="ncbi_uid=1631307">V</a></span></span><span class="TLline">Combined oxidative phosphorylation deficiency 34</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693466[DISCUI]&test_type=Clinical" ref="ncbi_uid=1639653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1639653" target="_blank" href="/omim/617840">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1639653" ref="ncbi_uid=1639653">V</a></span></span><span class="TLline"><a href="/medgen/1639653" ref="tree=GTR&ncbi_uid=1639653&link_uid=1639653" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 35'">Combined oxidative phosphorylation deficiency 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693722[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644927">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644927" target="_blank" href="/omim/611971">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1644927" ref="ncbi_uid=1644927">V</a></span></span><span class="TLline"><a href="/medgen/1644927" ref="tree=GTR&ncbi_uid=1644927&link_uid=1644927" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 36'">Combined oxidative phosphorylation deficiency 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5193031[DISCUI]&test_type=Clinical" ref="ncbi_uid=1675208">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1675208" target="_blank" href="/omim/616658">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1675208" ref="ncbi_uid=1675208">V</a></span></span><span class="TLline"><a href="/medgen/1675208" ref="tree=GTR&ncbi_uid=1675208&link_uid=1675208" title="View MedGen record for 'Combined oxidative phosphorylation deficiency 37'">Combined oxidative phosphorylation deficiency 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864840[DISCUI]&test_type=Clinical" ref="ncbi_uid=355842">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355842" target="_blank" href="/omim/604723">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355842" ref="ncbi_uid=355842">V</a></span></span><span class="TLline"><a href="/medgen/355842" ref="tree=GTR&ncbi_uid=355842&link_uid=355842" title="View MedGen record for 'Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3'">Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810001[DISCUI]&test_type=Clinical" ref="ncbi_uid=816331">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816331" target="_blank" href="/omim/615564">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816331" ref="ncbi_uid=816331">V</a></span></span><span class="TLline"><a href="/medgen/816331" ref="tree=GTR&ncbi_uid=816331&link_uid=816331" title="View MedGen record for 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome'">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836797[DISCUI]&test_type=Clinical" ref="ncbi_uid=322999">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322999" target="_blank" href="/omim/606639">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322999" ref="ncbi_uid=322999">V</a></span></span><span class="TLline"><a href="/medgen/322999" ref="tree=GTR&ncbi_uid=322999&link_uid=322999" title="View MedGen record for 'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1'">Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673642[DISCUI]&test_type=Clinical" ref="ncbi_uid=435972">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=435972" target="_blank" href="/omim/605810">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=435972" ref="ncbi_uid=435972">V</a></span></span><span class="TLline"><a href="/medgen/435972" ref="tree=GTR&ncbi_uid=435972&link_uid=435972" title="View MedGen record for 'Hypotonia with lactic acidemia and hyperammonemia'">Hypotonia with lactic acidemia and hyperammonemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809339[DISCUI]&test_type=Clinical" ref="ncbi_uid=815669">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815669" target="_blank" href="/omim/611849">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815669" ref="ncbi_uid=815669">V</a></span></span><span class="TLline"><a href="/medgen/815669" ref="tree=GTR&ncbi_uid=815669&link_uid=815669" title="View MedGen record for 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency'">Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310661[DISCUI]&test_type=Clinical" ref="ncbi_uid=934628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934628" target="_blank" href="/omim/602241">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934628" ref="ncbi_uid=934628">V</a></span></span><span class="TLline"><a href="/medgen/934628" ref="tree=GTR&ncbi_uid=934628&link_uid=934628" title="View MedGen record for 'Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome'">Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4706421[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645614" target="_blank" href="/omim/612799">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645614" ref="ncbi_uid=1645614">V</a></span></span><span class="TLline"><a href="/medgen/1645614" ref="tree=GTR&ncbi_uid=1645614&link_uid=1645614" title="View MedGen record for 'Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome'">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4749921[DISCUI]&test_type=Clinical" ref="ncbi_uid=1664257">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1664257" target="_blank" href="/omim/614667">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1664257" ref="ncbi_uid=1664257">V</a></span></span><span class="TLline"><a href="/medgen/1664257" ref="tree=GTR&ncbi_uid=1664257&link_uid=1664257" title="View MedGen record for 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency'">Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151753[DISCUI]&test_type=Clinical" ref="ncbi_uid=463103">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463103" target="_blank" href="/omim/300169">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=463103" ref="ncbi_uid=463103">V</a></span></span><span class="TLline"><a href="/medgen/463103" ref="tree=GTR&ncbi_uid=463103&link_uid=463103" title="View MedGen record for 'Severe X-linked mitochondrial encephalomyopathy'">Severe X-linked mitochondrial encephalomyopathy</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1626645" ref="tree=MeSH" title="MedGen record for Combined oxidative phosphorylation deficiency">Combined oxidative phosphorylation deficiency</a></span><ul><li><span class="matched_ds">Combined oxidative phosphorylation deficiency 34</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33823107">Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Zhang W,
|
||
Chen Z,
|
||
Lin C,
|
||
Lin W,
|
||
Fu Q,
|
||
Peng W,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 May 26;34(5):649-652.
|
||
Epub 2021 Apr 7
|
||
doi: 10.1515/jpem-2020-0694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33823107" target="_blank">33823107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22025878">Preclinical evaluation of azathioprine plus buthionine sulfoximine in the treatment of human hepatocarcinoma and colon carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández-Breijo B,
|
||
Monserrat J,
|
||
Ramírez-Rubio S,
|
||
Cuevas EP,
|
||
Vara D,
|
||
Díaz-Laviada I,
|
||
Fernández-Moreno MD,
|
||
Román ID,
|
||
Gisbert JP,
|
||
Guijarro LG</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2011 Sep 14;17(34):3899-911.
|
||
doi: 10.3748/wjg.v17.i34.3899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22025878" target="_blank">22025878</a><a href="/pmc/articles/PMC3198019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10492065">A critical risk-benefit assessment argues against the use of anthracyclines in induction regimens for newly diagnosed childhood acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Messinger Y,
|
||
Uckun FM</span><br />
|
||
<span class="medgenPMjournal">Leuk Lymphoma</span>
|
||
1999 Aug;34(5-6):415-32.
|
||
doi: 10.3109/10428199909058469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10492065" target="_blank">10492065</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(combined%20oxidative%20phosphorylation%20deficiency%2034)%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 (7)</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/36221165">Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boy N,
|
||
Mühlhausen C,
|
||
Maier EM,
|
||
Ballhausen D,
|
||
Baumgartner MR,
|
||
Beblo S,
|
||
Burgard P,
|
||
Chapman KA,
|
||
Dobbelaere D,
|
||
Heringer-Seifert J,
|
||
Fleissner S,
|
||
Grohmann-Held K,
|
||
Hahn G,
|
||
Harting I,
|
||
Hoffmann GF,
|
||
Jochum F,
|
||
Karall D,
|
||
Konstantopoulous V,
|
||
Krawinkel MB,
|
||
Lindner M,
|
||
Märtner EMC,
|
||
Nuoffer JM,
|
||
Okun JG,
|
||
Plecko B,
|
||
Posset R,
|
||
Sahm K,
|
||
Scholl-Bürgi S,
|
||
Thimm E,
|
||
Walter M,
|
||
Williams M,
|
||
Vom Dahl S,
|
||
Ziagaki A,
|
||
Zschocke J,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 May;46(3):482-519.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1002/jimd.12566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36221165" target="_blank">36221165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33823107">Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Zhang W,
|
||
Chen Z,
|
||
Lin C,
|
||
Lin W,
|
||
Fu Q,
|
||
Peng W,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 May 26;34(5):649-652.
|
||
Epub 2021 Apr 7
|
||
doi: 10.1515/jpem-2020-0694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33823107" target="_blank">33823107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32142448">The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen KD,
|
||
Corben LA,
|
||
Pathirana PN,
|
||
Horne MK,
|
||
Delatycki MB,
|
||
Szmulewicz DJ</span><br />
|
||
<span class="medgenPMjournal">IEEE Trans Neural Syst Rehabil Eng</span>
|
||
2020 Apr;28(4):924-933.
|
||
Epub 2020 Mar 2
|
||
doi: 10.1109/TNSRE.2020.2977354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32142448" target="_blank">32142448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1821070">Cardiothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Popovici D,
|
||
Hertoghe J</span><br />
|
||
<span class="medgenPMjournal">Endocrinologie</span>
|
||
1991;29(3-4):119-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1821070" target="_blank">1821070</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2034%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 (49)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37889470">Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavriilaki M,
|
||
Chatzikyriakou E,
|
||
Moschou M,
|
||
Arnaoutoglou M,
|
||
Sakellari I,
|
||
Kimiskidis VK</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Jun;23(3):1184-1203.
|
||
Epub 2023 Oct 27
|
||
doi: 10.1007/s12311-023-01621-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37889470" target="_blank">37889470</a><a href="/pmc/articles/PMC11102393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36221165">Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boy N,
|
||
Mühlhausen C,
|
||
Maier EM,
|
||
Ballhausen D,
|
||
Baumgartner MR,
|
||
Beblo S,
|
||
Burgard P,
|
||
Chapman KA,
|
||
Dobbelaere D,
|
||
Heringer-Seifert J,
|
||
Fleissner S,
|
||
Grohmann-Held K,
|
||
Hahn G,
|
||
Harting I,
|
||
Hoffmann GF,
|
||
Jochum F,
|
||
Karall D,
|
||
Konstantopoulous V,
|
||
Krawinkel MB,
|
||
Lindner M,
|
||
Märtner EMC,
|
||
Nuoffer JM,
|
||
Okun JG,
|
||
Plecko B,
|
||
Posset R,
|
||
Sahm K,
|
||
Scholl-Bürgi S,
|
||
Thimm E,
|
||
Walter M,
|
||
Williams M,
|
||
Vom Dahl S,
|
||
Ziagaki A,
|
||
Zschocke J,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 May;46(3):482-519.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1002/jimd.12566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36221165" target="_blank">36221165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33823107">Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Zhang W,
|
||
Chen Z,
|
||
Lin C,
|
||
Lin W,
|
||
Fu Q,
|
||
Peng W,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 May 26;34(5):649-652.
|
||
Epub 2021 Apr 7
|
||
doi: 10.1515/jpem-2020-0694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33823107" target="_blank">33823107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1821070">Cardiothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Popovici D,
|
||
Hertoghe J</span><br />
|
||
<span class="medgenPMjournal">Endocrinologie</span>
|
||
1991;29(3-4):119-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1821070" target="_blank">1821070</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2034%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39912680">Metabolic dysfunction and insulin sensitizers in acute and chronic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colca JR,
|
||
McCommis KS</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
|
||
2025 Jan-Feb;34(1-2):17-26.
|
||
Epub 2025 Feb 7
|
||
doi: 10.1080/13543784.2025.2463086.
|
||
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van der Kooi EL,
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Pakdel A,
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Ebrahimie E,
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Ghaderi Zefrehee M,
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Reecy JM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/31187384" target="_blank">31187384</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/20446114" target="_blank">20446114</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11762983">HIV inhibitors: problems and reality.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2034%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37889470">Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gavriilaki M,
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Chatzikyriakou E,
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Moschou M,
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Arnaoutoglou M,
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Sakellari I,
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Kimiskidis VK</span><br />
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<span class="medgenPMjournal">Cerebellum</span>
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2024 Jun;23(3):1184-1203.
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Epub 2023 Oct 27
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doi: 10.1007/s12311-023-01621-6.
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<span class="bold">PMID: </span><a href="/pubmed/37889470" target="_blank">37889470</a><a href="/pmc/articles/PMC11102393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37095554">ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skopkova M,
|
||
Stufkova H,
|
||
Rambani V,
|
||
Stranecky V,
|
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Brennerova K,
|
||
Kolnikova M,
|
||
Pietrzykova M,
|
||
Karhanek M,
|
||
Noskova L,
|
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Tesarova M,
|
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Hansikova H,
|
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Gasperikova D</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2023 Apr 24;18(1):92.
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doi: 10.1186/s13023-023-02689-3.
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<span class="bold">PMID: </span><a href="/pubmed/37095554" target="_blank">37095554</a><a href="/pmc/articles/PMC10127305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31187384">Prediction of key regulators and downstream targets of E. coli induced mastitis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sharifi S,
|
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Pakdel A,
|
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Ebrahimie E,
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Aryan Y,
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Ghaderi Zefrehee M,
|
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Reecy JM</span><br />
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<span class="medgenPMjournal">J Appl Genet</span>
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2019 Nov;60(3-4):367-373.
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Epub 2019 Jun 11
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doi: 10.1007/s13353-019-00499-7.
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<span class="bold">PMID: </span><a href="/pubmed/31187384" target="_blank">31187384</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30343707">Is PBC a viral infectious disease?</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/30343707" target="_blank">30343707</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17950797">Effect of coenzyme Q(10) supplementation on simvastatin-induced myalgia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Young JM,
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Florkowski CM,
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Molyneux SL,
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McEwan RG,
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Frampton CM,
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George PM,
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Scott RS</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/17950797" target="_blank">17950797</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2034%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 (36)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37889470">Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavriilaki M,
|
||
Chatzikyriakou E,
|
||
Moschou M,
|
||
Arnaoutoglou M,
|
||
Sakellari I,
|
||
Kimiskidis VK</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Jun;23(3):1184-1203.
|
||
Epub 2023 Oct 27
|
||
doi: 10.1007/s12311-023-01621-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37889470" target="_blank">37889470</a><a href="/pmc/articles/PMC11102393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32000367">A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chang X,
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Wu Y,
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Zhou J,
|
||
Meng H,
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||
Zhang W,
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||
Guo J</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
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2020 Jan;99(5):e18634.
|
||
doi: 10.1097/MD.0000000000018634.
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<span class="bold">PMID: </span><a href="/pubmed/32000367" target="_blank">32000367</a><a href="/pmc/articles/PMC7004636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10567074">Muscle disorders associated with cyclosporine treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breil M,
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Chariot P</span><br />
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<span class="medgenPMjournal">Muscle Nerve</span>
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<span class="bold">PMID: </span><a href="/pubmed/10567074" target="_blank">10567074</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2034%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>
|
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</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=C4693450%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693450%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4693450%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693450%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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