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<meta name="keywords" content="C4748737, disease or syndrome, mc1dn2, mitochondrial complex 1 deficiency, nuclear type 2, mitochondrial complex i deficiency, nuclear type 2, ndufs8, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1648466
|
||
ConceptID=C4748737
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mitochondrial complex 1 deficiency, nuclear type 2<span class="h1sub">(MC1DN2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648466</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:">C4748737</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2</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="NDUFS8 - ID: 4728 - NCBI Gene" href="/gene/4728" class="medgenPMinfo">NDUFS8</a> (11q13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032606" target="_blank">MONDO:0032606</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618222" target="_blank">618222</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_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_68672"><div><strong>Ankle clonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68672</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.">C0238651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68672">Feature record</a> | <a href="/medgen?term=%22Ankle%20clonus%22%5BClinical%20Features%5D%20OR%2068672%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%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_324693"><div><strong>Poor suck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324693</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.">C1837142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324693">Feature record</a> | <a href="/medgen?term=%22Poor%20suck%22%5BClinical%20Features%5D%20OR%20324693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4390"><div><strong>Drowsiness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4390</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.">C0013144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal feeling of sleepiness or difficulty staying awake.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4390">Feature record</a> | <a href="/medgen?term=%22Drowsiness%22%5BClinical%20Features%5D%20OR%204390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8514"><div><strong>Dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8514</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.">C0013384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8514">Feature record</a> | <a href="/medgen?term=%22Dyskinesia%22%5BClinical%20Features%5D%20OR%208514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</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.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39084"><div><strong>Falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39084</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.">C0085639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden movement downward, usually resulting in injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39084">Feature record</a> | <a href="/medgen?term=%22Falls%22%5BClinical%20Features%5D%20OR%2039084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333065"><div><strong>Primitive reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333065</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.">C1838319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333065">Feature record</a> | <a href="/medgen?term=%22Primitive%20reflex%22%5BClinical%20Features%5D%20OR%20333065%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_382164"><div><strong>Brisk reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382164</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.">C2673700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382164">Feature record</a> | <a href="/medgen?term=%22Brisk%20reflexes%22%5BClinical%20Features%5D%20OR%20382164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9359"><div><strong>Hypercapnia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9359</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.">C0020440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally elevated blood carbon dioxide (CO2) level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9359">Feature record</a> | <a href="/medgen?term=%22Hypercapnia%22%5BClinical%20Features%5D%20OR%209359%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_814310"><div><strong>Apneic episodes in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814310</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.">C3807980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent episodes of apnea occurring during infancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814310">Feature record</a> | <a href="/medgen?term=%22Apneic%20episodes%20in%20infancy%22%5BClinical%20Features%5D%20OR%20814310%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_65892"><div><strong>Weak cry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65892</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.">C0234860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65892">Feature record</a> | <a href="/medgen?term=%22Weak%20cry%22%5BClinical%20Features%5D%20OR%2065892%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75749"><div><strong>Vertical nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75749</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.">C0271386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75749">Feature record</a> | <a href="/medgen?term=%22Vertical%20nystagmus%22%5BClinical%20Features%5D%20OR%2075749%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393796"><div><strong>Decreased activity of mitochondrial complex I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393796</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.">C2677650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393796">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20I%22%5BClinical%20Features%5D%20OR%20393796%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex I</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankle clonus</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_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 cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor suck</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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertical nystagmus</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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_382164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brisk reflexes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drowsiness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Falls</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primitive reflex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_814310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apneic episodes in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercapnia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weak cry</a></span></li></ul></li></ul></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/39113560">Role of AMBRA1 in mitophagy regulation: emerging evidence in aging-related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rienzo M,
|
||
Romagnoli A,
|
||
Refolo G,
|
||
Vescovo T,
|
||
Ciccosanti F,
|
||
Zuchegna C,
|
||
Lozzi F,
|
||
Occhigrossi L,
|
||
Piacentini M,
|
||
Fimia GM</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2024 Dec;20(12):2602-2615.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1080/15548627.2024.2389474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39113560" target="_blank">39113560</a><a href="/pmc/articles/PMC11587829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38467968">Mitochondrial damage and clearance in retinal pigment epithelial cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurubaran IS</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2024 Mar;102 Suppl 282:3-53.
|
||
doi: 10.1111/aos.16661.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38467968" target="_blank">38467968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35192969">Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hipps D,
|
||
Dobson PF,
|
||
Warren C,
|
||
McDonald D,
|
||
Fuller A,
|
||
Filby A,
|
||
Bulmer D,
|
||
Laude A,
|
||
Russell O,
|
||
Deehan DJ,
|
||
Turnbull DM,
|
||
Lawless C</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2022 May;158:116371.
|
||
Epub 2022 Feb 19
|
||
doi: 10.1016/j.bone.2022.116371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35192969" target="_blank">35192969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23827971">Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salminen A,
|
||
Kaarniranta K,
|
||
Kauppinen A,
|
||
Ojala J,
|
||
Haapasalo A,
|
||
Soininen H,
|
||
Hiltunen M</span><br />
|
||
<span class="medgenPMjournal">Prog Neurobiol</span>
|
||
2013 Jul-Aug;106-107:33-54.
|
||
Epub 2013 Jul 1
|
||
doi: 10.1016/j.pneurobio.2013.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23827971" target="_blank">23827971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19887598">Deficiency of electron transport chain in human skeletal muscle mitochondria in type 2 diabetes mellitus and obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ritov VB,
|
||
Menshikova EV,
|
||
Azuma K,
|
||
Wood R,
|
||
Toledo FG,
|
||
Goodpaster BH,
|
||
Ruderman NB,
|
||
Kelley DE</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Endocrinol Metab</span>
|
||
2010 Jan;298(1):E49-58.
|
||
Epub 2009 Nov 3
|
||
doi: 10.1152/ajpendo.00317.2009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19887598" target="_blank">19887598</a><a href="/pmc/articles/PMC2806111" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%201%20deficiency%2C%20nuclear%20type%202%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39169373">IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong Q,
|
||
Yin X,
|
||
Fan S,
|
||
Zhong S,
|
||
Yang W,
|
||
Chen K,
|
||
Wang Q,
|
||
Ma X,
|
||
Mahlatsi RL,
|
||
Yang Y,
|
||
Lyu J,
|
||
Fang H,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Aug 21;19(1):305.
|
||
doi: 10.1186/s13023-024-03310-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39169373" target="_blank">39169373</a><a href="/pmc/articles/PMC11340112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37389860">Loss of NOR-1 represses muscle metabolism through mTORC1-mediated signaling and mitochondrial gene expression in C2C12 myotubes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paez HG,
|
||
Ferrandi PJ,
|
||
Pitzer CR,
|
||
Mohamed JS,
|
||
Alway SE</span><br />
|
||
<span class="medgenPMjournal">FASEB J</span>
|
||
2023 Aug;37(8):e23050.
|
||
doi: 10.1096/fj.202202029R.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37389860" target="_blank">37389860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35192969">Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hipps D,
|
||
Dobson PF,
|
||
Warren C,
|
||
McDonald D,
|
||
Fuller A,
|
||
Filby A,
|
||
Bulmer D,
|
||
Laude A,
|
||
Russell O,
|
||
Deehan DJ,
|
||
Turnbull DM,
|
||
Lawless C</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2022 May;158:116371.
|
||
Epub 2022 Feb 19
|
||
doi: 10.1016/j.bone.2022.116371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35192969" target="_blank">35192969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25808178">Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szarek E,
|
||
Ball ER,
|
||
Imperiale A,
|
||
Tsokos M,
|
||
Faucz FR,
|
||
Giubellino A,
|
||
Moussallieh FM,
|
||
Namer IJ,
|
||
Abu-Asab MS,
|
||
Pacak K,
|
||
Taïeb D,
|
||
Carney JA,
|
||
Stratakis CA</span><br />
|
||
<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2015 Jun;22(3):345-52.
|
||
Epub 2015 Mar 25
|
||
doi: 10.1530/ERC-15-0069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25808178" target="_blank">25808178</a><a href="/pmc/articles/PMC4433412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24781756">Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdulhag UN,
|
||
Soiferman D,
|
||
Schueler-Furman O,
|
||
Miller C,
|
||
Shaag A,
|
||
Elpeleg O,
|
||
Edvardson S,
|
||
Saada A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Feb;23(2):159-64.
|
||
Epub 2014 Apr 30
|
||
doi: 10.1038/ejhg.2014.85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24781756" target="_blank">24781756</a><a href="/pmc/articles/PMC4297913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%201%20deficiency%2C%20nuclear%20type%202%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20395592">Erythropoietin activates mitochondrial biogenesis and couples red cell mass to mitochondrial mass in the heart.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carraway MS,
|
||
Suliman HB,
|
||
Jones WS,
|
||
Chen CW,
|
||
Babiker A,
|
||
Piantadosi CA</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2010 Jun 11;106(11):1722-30.
|
||
Epub 2010 Apr 15
|
||
doi: 10.1161/CIRCRESAHA.109.214353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20395592" target="_blank">20395592</a><a href="/pmc/articles/PMC2895561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%201%20deficiency%2C%20nuclear%20type%202%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39169373">IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong Q,
|
||
Yin X,
|
||
Fan S,
|
||
Zhong S,
|
||
Yang W,
|
||
Chen K,
|
||
Wang Q,
|
||
Ma X,
|
||
Mahlatsi RL,
|
||
Yang Y,
|
||
Lyu J,
|
||
Fang H,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Aug 21;19(1):305.
|
||
doi: 10.1186/s13023-024-03310-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39169373" target="_blank">39169373</a><a href="/pmc/articles/PMC11340112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30622257">The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baechler SA,
|
||
Factor VM,
|
||
Dalla Rosa I,
|
||
Ravji A,
|
||
Becker D,
|
||
Khiati S,
|
||
Miller Jenkins LM,
|
||
Lang M,
|
||
Sourbier C,
|
||
Michaels SA,
|
||
Neckers LM,
|
||
Zhang HL,
|
||
Spinazzola A,
|
||
Huang SN,
|
||
Marquardt JU,
|
||
Pommier Y</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Jan 8;10(1):83.
|
||
doi: 10.1038/s41467-018-07922-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30622257" target="_blank">30622257</a><a href="/pmc/articles/PMC6325124" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26685157">Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hallmann K,
|
||
Kudin AP,
|
||
Zsurka G,
|
||
Kornblum C,
|
||
Reimann J,
|
||
Stüve B,
|
||
Waltz S,
|
||
Hattingen E,
|
||
Thiele H,
|
||
Nürnberg P,
|
||
Rüb C,
|
||
Voos W,
|
||
Kopatz J,
|
||
Neumann H,
|
||
Kunz WS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2016 Feb;139(Pt 2):338-45.
|
||
Epub 2015 Dec 17
|
||
doi: 10.1093/brain/awv357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26685157" target="_blank">26685157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24781756">Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdulhag UN,
|
||
Soiferman D,
|
||
Schueler-Furman O,
|
||
Miller C,
|
||
Shaag A,
|
||
Elpeleg O,
|
||
Edvardson S,
|
||
Saada A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Feb;23(2):159-64.
|
||
Epub 2014 Apr 30
|
||
doi: 10.1038/ejhg.2014.85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24781756" target="_blank">24781756</a><a href="/pmc/articles/PMC4297913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18295330">Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willems PH,
|
||
Valsecchi F,
|
||
Distelmaier F,
|
||
Verkaart S,
|
||
Visch HJ,
|
||
Smeitink JA,
|
||
Koopman WJ</span><br />
|
||
<span class="medgenPMjournal">Cell Calcium</span>
|
||
2008 Jul;44(1):123-33.
|
||
Epub 2008 Mar 4
|
||
doi: 10.1016/j.ceca.2008.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18295330" target="_blank">18295330</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%201%20deficiency%2C%20nuclear%20type%202%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39113560">Role of AMBRA1 in mitophagy regulation: emerging evidence in aging-related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rienzo M,
|
||
Romagnoli A,
|
||
Refolo G,
|
||
Vescovo T,
|
||
Ciccosanti F,
|
||
Zuchegna C,
|
||
Lozzi F,
|
||
Occhigrossi L,
|
||
Piacentini M,
|
||
Fimia GM</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2024 Dec;20(12):2602-2615.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1080/15548627.2024.2389474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39113560" target="_blank">39113560</a><a href="/pmc/articles/PMC11587829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38467968">Mitochondrial damage and clearance in retinal pigment epithelial cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurubaran IS</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2024 Mar;102 Suppl 282:3-53.
|
||
doi: 10.1111/aos.16661.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38467968" target="_blank">38467968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35192969">Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hipps D,
|
||
Dobson PF,
|
||
Warren C,
|
||
McDonald D,
|
||
Fuller A,
|
||
Filby A,
|
||
Bulmer D,
|
||
Laude A,
|
||
Russell O,
|
||
Deehan DJ,
|
||
Turnbull DM,
|
||
Lawless C</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2022 May;158:116371.
|
||
Epub 2022 Feb 19
|
||
doi: 10.1016/j.bone.2022.116371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35192969" target="_blank">35192969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34999280">NFE2L1-mediated proteasome function protects from ferroptosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kotschi S,
|
||
Jung A,
|
||
Willemsen N,
|
||
Ofoghi A,
|
||
Proneth B,
|
||
Conrad M,
|
||
Bartelt A</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2022 Mar;57:101436.
|
||
Epub 2022 Jan 6
|
||
doi: 10.1016/j.molmet.2022.101436.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34999280" target="_blank">34999280</a><a href="/pmc/articles/PMC8814388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34672678">Mitochondrial Telomerase Reverse Transcriptase Protects From Myocardial Ischemia/Reperfusion Injury by Improving Complex I Composition and Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ale-Agha N,
|
||
Jakobs P,
|
||
Goy C,
|
||
Zurek M,
|
||
Rosen J,
|
||
Dyballa-Rukes N,
|
||
Metzger S,
|
||
Greulich J,
|
||
von Ameln F,
|
||
Eckermann O,
|
||
Unfried K,
|
||
Brack F,
|
||
Grandoch M,
|
||
Thielmann M,
|
||
Kamler M,
|
||
Gedik N,
|
||
Kleinbongard P,
|
||
Heinen A,
|
||
Heusch G,
|
||
Gödecke A,
|
||
Altschmied J,
|
||
Haendeler J</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Dec 7;144(23):1876-1890.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1161/CIRCULATIONAHA.120.051923.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34672678" target="_blank">34672678</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20complex%201%20deficiency%2C%20nuclear%20type%202%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 (12)</a></div></div>
|
||
</div>
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||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="rightCol mgCol">
|
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|
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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=C4748737%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C4748737%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4748737%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C4748737%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4748737%5bDISCUI%5d" target="_blank">See all (16)</a></total></li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc8ddba68b6b5afc5557aa">Mitochondrial complex 1 deficiency, nuclear type 2</a>
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