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<meta name="keywords" content="C4551995, disease or syndrome, mitochondrial dna depletion syndrome 1, mitochondrial dna depletion syndrome 1 (mngie type), mitochondrial dna depletion syndrome type 1, mitochondrial dna depletion syndrome, mngie form, mitochondrial neurogastrointestinal encephalomyopathy syndrome, mitochondrial neurogastrointestinal encephalopathy disease, mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, mngie, tymp-related, mtdps1, myoneurogastrointestinal encephalopathy syndrome, polg, polip syndrome, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction, tymp, 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="Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1631838
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ConceptID=C4551995
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mitochondrial DNA depletion syndrome 1<span class="h1sub">(MTDPS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631838</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:">C4551995</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>Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial DNA Depletion Syndrome, MNGIE Form; Mitochondrial neurogastrointestinal encephalomyopathy syndrome; Mitochondrial Neurogastrointestinal Encephalopathy Disease; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; MNGIE, TYMP-RELATED; POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION</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">Genes (locations):<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="POLG - ID: 5428 - NCBI Gene" href="/gene/5428" class="medgenPMinfo">POLG</a> (15q26.1); <a target="_blank" title="TYMP - ID: 1890 - NCBI Gene" href="/gene/1890" class="medgenPMinfo">TYMP</a> (22q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011283" target="_blank">MONDO:0011283</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/603041" target="_blank">603041</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1179" target="_blank">Mitochondrial Neurogastrointestinal Encephalopathy Disease</a></div><div>Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1179#mngie.Summary" target="NBK1179">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Diagnosis" target="NBK1179">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Clinical_Characteristics" target="NBK1179">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Genetically_Related_Allelic_Disord" target="NBK1179">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Differential_Diagnosis" target="NBK1179">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Management" target="NBK1179">Management</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Genetic_Counseling" target="NBK1179">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Resources" target="NBK1179">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Molecular_Genetics" target="NBK1179">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.Chapter_Notes" target="NBK1179">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1179#mngie.References" target="NBK1179">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Michio Hirano <a href="/books/NBK1179" target="NBK1179" title="NCBI Bookshelf: Mitochondrial Neurogastrointestinal Encephalopathy Disease">view full author information</a></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations (Taanman et al., 2009).
|
||
Genetic Heterogeneity of Mitochondrial DNA Depletion Syndromes
|
||
Mitochondrial DNA depletion syndromes are clinically and genetically heterogeneous, and most are autosomal recessive disorders. See also MTDPS2 (609560), caused by mutation in the TK2 gene (188250); MTDPS3 (251880), caused by mutation in the DGUOK gene (601465); MTDPS4A (203700) and MTDPS4B (613662), both caused by mutation in the POLG gene (174763); MTDPS5 (612073), caused by mutation in the SUCLA2 gene (603921); MTDPS6 (256810), caused by mutation in the MPV17 gene (137960); MTDPS7 (271245), caused by mutation in the C10ORF2 gene (606075); MTDPS8A (612075) and MTDPS8B (see 612075), both caused by mutation in the RRM2B gene (604712); MTDPS9 (245400), caused by mutation in the SUCLG1 gene (611224); MTDPS10 (212350), caused by mutation in the AGK gene (610345); MTDPS11 (615084), caused by mutation in the MGME1 gene (615076); MTDPS12A (617184) and MTDPS12B (615418), both caused by mutation in the SLC25A4 gene (103220); MTDPS13 (615471), caused by mutation in the FBXL4 gene (605654); MTDPS14 (616896), caused by mutation in the OPA1 gene (605290); MTDPS15 (617156), caused by mutation in the TFAM gene (600438); MTDPS16 (618528), caused by mutation in the POLG2 gene (604983); MTDPS17 (618567), caused by mutation in the MRM2 gene (606906); MTDPS18 (618811), caused by mutation in the SLC25A21 gene (607571); MTDPS19 (618972), caused by mutation in the SLC25A10 gene (606794); MTDPS20 (619780), caused by mutation in the LIG3 gene (600940); and MTDPS21 (621071), caused by mutation in the GUK1 gene (139270). <a target="_blank" href="http://www.omim.org/entry/603041">http://www.omim.org/entry/603041</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen over time.<br /><br />MNGIE disease is also characterized by abnormalities of the nervous system, although these tend to be milder than the gastrointestinal problems. Affected individuals experience tingling, numbness, and weakness in their limbs (peripheral neuropathy), particularly in the hands and feet. Additional neurological signs and symptoms can include droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms in people with this disorder.<br /><br />Almost all people with MNGIE disease have a condition known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. The resulting digestive problems include feelings of fullness (satiety) after eating only a small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, episodes of abdominal pain, diarrhea, and intestinal blockage. These gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia). <a target="_blank" href="https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease">https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_7801"><div><strong>Abdominal cramps</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7801</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.">C0000729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7801">Feature record</a> | <a href="/medgen?term=%22Abdominal%20cramps%22%5BClinical%20Features%5D%20OR%207801%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</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.">C0000737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105350"><div><strong>Allodynia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105350</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.">C0458247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain due to a stimulus that does not normally provoke pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105350">Feature record</a> | <a href="/medgen?term=%22Allodynia%22%5BClinical%20Features%5D%20OR%20105350%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347285"><div><strong>Areflexia of lower limbs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347285</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.">C1856694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to elicit tendon reflexes in the lower limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347285">Feature record</a> | <a href="/medgen?term=%22Areflexia%20of%20lower%20limbs%22%5BClinical%20Features%5D%20OR%20347285%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2773"><div><strong>Cachexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2773</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.">C0006625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2773">Feature record</a> | <a href="/medgen?term=%22Cachexia%22%5BClinical%20Features%5D%20OR%202773%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853198"><div><strong>Weight loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853198</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.">C1262477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of total body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853198">Feature record</a> | <a href="/medgen?term=%22Weight%20loss%22%5BClinical%20Features%5D%20OR%20853198%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376828"><div><strong>Slender build</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376828</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.">C1850573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376828">Feature record</a> | <a href="/medgen?term=%22Slender%20build%22%5BClinical%20Features%5D%20OR%20376828%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3878"><div><strong>Colonic diverticula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3878</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.">C0012819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple diverticula of the colon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3878">Feature record</a> | <a href="/medgen?term=%22Colonic%20diverticula%22%5BClinical%20Features%5D%20OR%203878%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9525"><div><strong>Intestinal perforation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9525</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.">C0021845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole (perforation) in the wall of the intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9525">Feature record</a> | <a href="/medgen?term=%22Intestinal%20perforation%22%5BClinical%20Features%5D%20OR%209525%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5864"><div><strong>Intestinal pseudo-obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5864</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.">C0021847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5864">Feature record</a> | <a href="/medgen?term=%22Intestinal%20pseudo-obstruction%22%5BClinical%20Features%5D%20OR%205864%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_101809"><div><strong>Gastroparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101809</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.">C0152020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101809">Feature record</a> | <a href="/medgen?term=%22Gastroparesis%22%5BClinical%20Features%5D%20OR%20101809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56429"><div><strong>Malnutrition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56429</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.">C0162429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency in the intake of energy and nutrients.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56429">Feature record</a> | <a href="/medgen?term=%22Malnutrition%22%5BClinical%20Features%5D%20OR%2056429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_534742"><div><strong>Hyperactive bowel sounds</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>534742</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.">C0232694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/534742">Feature record</a> | <a href="/medgen?term=%22Hyperactive%20bowel%20sounds%22%5BClinical%20Features%5D%20OR%20534742%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66782"><div><strong>Intermittent diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66782</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.">C0239181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated episodes of diarrhea separated by periods without diarrhea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66782">Feature record</a> | <a href="/medgen?term=%22Intermittent%20diarrhea%22%5BClinical%20Features%5D%20OR%2066782%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_536892"><div><strong>Early satiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536892</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.">C0239233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/536892">Feature record</a> | <a href="/medgen?term=%22Early%20satiety%22%5BClinical%20Features%5D%20OR%20536892%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324638"><div><strong>Gastrointestinal dysmotility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324638</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.">C1836923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324638">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20dysmotility%22%5BClinical%20Features%5D%20OR%20324638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811453"><div><strong>Malabsorption</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811453</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.">C3714745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to absorb one or more nutrients from the intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811453">Feature record</a> | <a href="/medgen?term=%22Malabsorption%22%5BClinical%20Features%5D%20OR%20811453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</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 in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6974"><div><strong>Hypoesthesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6974</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.">C0020580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased ability to perceive touch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6974">Feature record</a> | <a href="/medgen?term=%22Hypoesthesia%22%5BClinical%20Features%5D%20OR%206974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</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.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</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.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78722"><div><strong>Leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78722</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.">C0270612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78722">Feature record</a> | <a href="/medgen?term=%22Leukoencephalopathy%22%5BClinical%20Features%5D%20OR%2078722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_207266"><div><strong>Sensorimotor neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>207266</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.">C1112256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/207266">Feature record</a> | <a href="/medgen?term=%22Sensorimotor%20neuropathy%22%5BClinical%20Features%5D%20OR%20207266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335722"><div><strong>Distal sensory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335722</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.">C1847584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in sensation in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335722">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%22%5BClinical%20Features%5D%20OR%20335722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866563"><div><strong>Hypointensity of cerebral white matter on MRI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866563</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.">C4020908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866563">Feature record</a> | <a href="/medgen?term=%22Hypointensity%20of%20cerebral%20white%20matter%20on%20MRI%22%5BClinical%20Features%5D%20OR%20866563%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56484"><div><strong>Inborn mitochondrial myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56484</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.">C0162670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56484">Feature record</a> | <a href="/medgen?term=%22Inborn%20mitochondrial%20myopathy%22%5BClinical%20Features%5D%20OR%2056484%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</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.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_477048"><div><strong>Ragged-red muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477048</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.">C3275417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477048">Feature record</a> | <a href="/medgen?term=%22Ragged-red%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20477048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867360"><div><strong>Cytochrome C oxidase-negative muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867360</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.">C4021724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867360">Feature record</a> | <a href="/medgen?term=%22Cytochrome%20C%20oxidase-negative%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20867360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871128"><div><strong>Subsarcolemmal accumulations of abnormally shaped mitochondria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871128</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.">C4025597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871128">Feature record</a> | <a href="/medgen?term=%22Subsarcolemmal%20accumulations%20of%20abnormally%20shaped%20mitochondria%22%5BClinical%20Features%5D%20OR%20871128%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_351077"><div><strong>Elevated circulating thymidine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351077</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.">C1864226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of thymidine in the blood circulation above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351077">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20thymidine%20concentration%22%5BClinical%20Features%5D%20OR%20351077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1814408"><div><strong>Elevated circulating deoxyuridine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814408</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.">C5676844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of 2-deoxyuridine in the blood circulation is above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814408">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20deoxyuridine%20concentration%22%5BClinical%20Features%5D%20OR%201814408%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1863677"><div><strong>Reduced tissue thymidine phosphorylase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863677</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.">C5937332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863677">Feature record</a> | <a href="/medgen?term=%22Reduced%20tissue%20thymidine%20phosphorylase%20activity%22%5BClinical%20Features%5D%20OR%201863677%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41600"><div><strong>Diplopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41600</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.">C0012569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41600">Feature record</a> | <a href="/medgen?term=%22Diplopia%22%5BClinical%20Features%5D%20OR%2041600%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102439"><div><strong>Progressive external ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102439</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.">C0162674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).\n\nWhen the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.\n\nAlthough muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.\n\nProgressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102439">Feature record</a> | <a href="/medgen?term=%22Progressive%20external%20ophthalmoplegia%22%5BClinical%20Features%5D%20OR%20102439%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155551"><div><strong>Ophthalmoparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155551</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.">C0751401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155551">Feature record</a> | <a href="/medgen?term=%22Ophthalmoparesis%22%5BClinical%20Features%5D%20OR%20155551%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_479006"><div><strong>Multiple mitochondrial DNA deletions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479006</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.">C3277376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple deletions of mitochondrial DNA (mtDNA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/479006">Feature record</a> | <a href="/medgen?term=%22Multiple%20mitochondrial%20DNA%20deletions%22%5BClinical%20Features%5D%20OR%20479006%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_479006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial DNA deletions</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_347285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia of lower limbs</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_1814408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating deoxyuridine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating thymidine 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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863677" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tissue thymidine phosphorylase activity</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_3878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colonic diverticula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_536892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early satiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal dysmotility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_534742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactive bowel sounds</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intermittent diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal perforation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5864" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal pseudo-obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malabsorption</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malnutrition</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 eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diplopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</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_867360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cytochrome C oxidase-negative muscle fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inborn mitochondrial myopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ragged-red muscle fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subsarcolemmal accumulations of abnormally shaped mitochondria</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_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoesthesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypointensity of cerebral white matter on MRI</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_207266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorimotor neuropathy</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal cramps</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Allodynia</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_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</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_2773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cachexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender build</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weight loss</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20436523">Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halter J,
|
||
Schüpbach W,
|
||
Casali C,
|
||
Elhasid R,
|
||
Fay K,
|
||
Hammans S,
|
||
Illa I,
|
||
Kappeler L,
|
||
Krähenbühl S,
|
||
Lehmann T,
|
||
Mandel H,
|
||
Marti R,
|
||
Mattle H,
|
||
Orchard K,
|
||
Savage D,
|
||
Sue CM,
|
||
Valcarcel D,
|
||
Gratwohl A,
|
||
Hirano M</span><br />
|
||
<span class="medgenPMjournal">Bone Marrow Transplant</span>
|
||
2011 Mar;46(3):330-337.
|
||
Epub 2010 May 3
|
||
doi: 10.1038/bmt.2010.100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20436523" target="_blank">20436523</a><a href="/pmc/articles/PMC4578692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20722626">Current options in the treatment of mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpelli M,
|
||
Cotelli MS,
|
||
Mancuso M,
|
||
Tomelleri G,
|
||
Tonin P,
|
||
Baronchelli C,
|
||
Vielmi V,
|
||
Gregorelli V,
|
||
Todeschini A,
|
||
Padovani A,
|
||
Filosto M</span><br />
|
||
<span class="medgenPMjournal">Recent Pat CNS Drug Discov</span>
|
||
2010 Nov;5(3):203-9.
|
||
doi: 10.2174/157488910793362412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20722626" target="_blank">20722626</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mitochondrial%20dna%20depletion%20syndrome%201)%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 (2)</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/37046411">Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozek G,
|
||
Aksoylar S,
|
||
Uçar SK,
|
||
Canda E,
|
||
Akcan M,
|
||
Cartı O,
|
||
Siviş ZO,
|
||
Oymak Y,
|
||
Yazıcı H,
|
||
Bax B,
|
||
Bulut FD,
|
||
Yoldaş Çelik M,
|
||
Erdem F,
|
||
Çoker M,
|
||
Kansoy S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2023 Jul;70(7):e30334.
|
||
Epub 2023 Apr 12
|
||
doi: 10.1002/pbc.30334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37046411" target="_blank">37046411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31462754">The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keshavan N,
|
||
Abdenur J,
|
||
Anderson G,
|
||
Assouline Z,
|
||
Barcia G,
|
||
Bouhikbar L,
|
||
Chakrapani A,
|
||
Cleary M,
|
||
Cohen MC,
|
||
Feillet F,
|
||
Fratter C,
|
||
Hauser N,
|
||
Jacques T,
|
||
Lam A,
|
||
McCullagh H,
|
||
Phadke R,
|
||
Rötig A,
|
||
Sharrard M,
|
||
Simon M,
|
||
Smith C,
|
||
Sommerville EW,
|
||
Taylor RW,
|
||
Yue WW,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Jan;22(1):199-209.
|
||
Epub 2019 Aug 29
|
||
doi: 10.1038/s41436-019-0613-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31462754" target="_blank">31462754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582904">MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazza G,
|
||
Pagan C,
|
||
Hardy G,
|
||
Besson G,
|
||
Lombès A;
|
||
MNGIE project</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Apr;156(5):1525-1527.e4.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1053/j.gastro.2018.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582904" target="_blank">30582904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26194912">Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Meo I,
|
||
Lamperti C,
|
||
Tiranti V</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2015 Oct;7(10):1257-66.
|
||
doi: 10.15252/emmm.201505040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26194912" target="_blank">26194912</a><a href="/pmc/articles/PMC4604682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23426270">Mitochondrial hepatopathy in adults: a case series and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cloots K,
|
||
Verbeek J,
|
||
Orlent H,
|
||
Meersseman W,
|
||
Cassiman D</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2013 Aug;25(8):892-8.
|
||
doi: 10.1097/MEG.0b013e32835ee629.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23426270" target="_blank">23426270</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20DNA%20depletion%20syndrome%201%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33825174">Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mojtabavi H,
|
||
Fatehi F,
|
||
Shahkarami S,
|
||
Rezaei N,
|
||
Nafissi S</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2021 Dec;71(12):2526-2533.
|
||
Epub 2021 Apr 6
|
||
doi: 10.1007/s12031-021-01822-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33825174" target="_blank">33825174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582904">MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazza G,
|
||
Pagan C,
|
||
Hardy G,
|
||
Besson G,
|
||
Lombès A;
|
||
MNGIE project</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Apr;156(5):1525-1527.e4.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1053/j.gastro.2018.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582904" target="_blank">30582904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28815453">The clinical eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elia F,
|
||
Covella M,
|
||
Perna M,
|
||
Aprà F,
|
||
Crupi V</span><br />
|
||
<span class="medgenPMjournal">Intern Emerg Med</span>
|
||
2018 Mar;13(2):213-217.
|
||
Epub 2017 Aug 16
|
||
doi: 10.1007/s11739-017-1739-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28815453" target="_blank">28815453</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27044617">Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sivadasan A,
|
||
Muthusamy K,
|
||
Patil AK,
|
||
Mathew V,
|
||
Alexander M</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 Apr 5;86(14):e147-e150.
|
||
doi: 10.1212/WNL.0000000000002536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27044617" target="_blank">27044617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20931438">Mitochondrial neurogastrointestinal encephalomyopathy: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Çolak Y,
|
||
Tuncer İ,
|
||
Çağlar E,
|
||
Barutçu D,
|
||
Ulaşoğlu C,
|
||
Kiziltaş Ş</span><br />
|
||
<span class="medgenPMjournal">Turk J Gastroenterol</span>
|
||
2010 Sep;21(3):305-7.
|
||
doi: 10.4318/tjg.2010.0106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20931438" target="_blank">20931438</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20DNA%20depletion%20syndrome%201%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 (42)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37046411">Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozek G,
|
||
Aksoylar S,
|
||
Uçar SK,
|
||
Canda E,
|
||
Akcan M,
|
||
Cartı O,
|
||
Siviş ZO,
|
||
Oymak Y,
|
||
Yazıcı H,
|
||
Bax B,
|
||
Bulut FD,
|
||
Yoldaş Çelik M,
|
||
Erdem F,
|
||
Çoker M,
|
||
Kansoy S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2023 Jul;70(7):e30334.
|
||
Epub 2023 Apr 12
|
||
doi: 10.1002/pbc.30334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37046411" target="_blank">37046411</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30561392">Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnoli C,
|
||
Pisani F,
|
||
Di Mario F,
|
||
Leandro G,
|
||
Gaiani F,
|
||
De' Angelis GL,
|
||
Fusco C</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2018 Dec 17;89(9-S):22-32.
|
||
doi: 10.23750/abm.v89i9-S.7956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30561392" target="_blank">30561392</a><a href="/pmc/articles/PMC6502186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24807807">Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Estévez S,
|
||
Ferrer G,
|
||
Torres-Torronteras J,
|
||
Mansilla MJ,
|
||
Casacuberta-Serra S,
|
||
Martorell L,
|
||
Hirano M,
|
||
Martí R,
|
||
Barquinero J</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2014 Jul;21(7):673-81.
|
||
Epub 2014 May 8
|
||
doi: 10.1038/gt.2014.41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24807807" target="_blank">24807807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24362886">Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cámara Y,
|
||
González-Vioque E,
|
||
Scarpelli M,
|
||
Torres-Torronteras J,
|
||
Caballero A,
|
||
Hirano M,
|
||
Martí R</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2014 May 1;23(9):2459-67.
|
||
Epub 2013 Dec 20
|
||
doi: 10.1093/hmg/ddt641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24362886" target="_blank">24362886</a><a href="/pmc/articles/PMC6281351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20722626">Current options in the treatment of mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpelli M,
|
||
Cotelli MS,
|
||
Mancuso M,
|
||
Tomelleri G,
|
||
Tonin P,
|
||
Baronchelli C,
|
||
Vielmi V,
|
||
Gregorelli V,
|
||
Todeschini A,
|
||
Padovani A,
|
||
Filosto M</span><br />
|
||
<span class="medgenPMjournal">Recent Pat CNS Drug Discov</span>
|
||
2010 Nov;5(3):203-9.
|
||
doi: 10.2174/157488910793362412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20722626" target="_blank">20722626</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20DNA%20depletion%20syndrome%201%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33916195">Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mencias M,
|
||
Levene M,
|
||
Blighe K,
|
||
Bax BE,
|
||
On Behalf Of The Project Group</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 1;22(7)
|
||
doi: 10.3390/ijms22073681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33916195" target="_blank">33916195</a><a href="/pmc/articles/PMC8037498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31462754">The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keshavan N,
|
||
Abdenur J,
|
||
Anderson G,
|
||
Assouline Z,
|
||
Barcia G,
|
||
Bouhikbar L,
|
||
Chakrapani A,
|
||
Cleary M,
|
||
Cohen MC,
|
||
Feillet F,
|
||
Fratter C,
|
||
Hauser N,
|
||
Jacques T,
|
||
Lam A,
|
||
McCullagh H,
|
||
Phadke R,
|
||
Rötig A,
|
||
Sharrard M,
|
||
Simon M,
|
||
Smith C,
|
||
Sommerville EW,
|
||
Taylor RW,
|
||
Yue WW,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Jan;22(1):199-209.
|
||
Epub 2019 Aug 29
|
||
doi: 10.1038/s41436-019-0613-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31462754" target="_blank">31462754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582904">MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazza G,
|
||
Pagan C,
|
||
Hardy G,
|
||
Besson G,
|
||
Lombès A;
|
||
MNGIE project</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Apr;156(5):1525-1527.e4.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1053/j.gastro.2018.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582904" target="_blank">30582904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30561392">Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnoli C,
|
||
Pisani F,
|
||
Di Mario F,
|
||
Leandro G,
|
||
Gaiani F,
|
||
De' Angelis GL,
|
||
Fusco C</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2018 Dec 17;89(9-S):22-32.
|
||
doi: 10.23750/abm.v89i9-S.7956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30561392" target="_blank">30561392</a><a href="/pmc/articles/PMC6502186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23426270">Mitochondrial hepatopathy in adults: a case series and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cloots K,
|
||
Verbeek J,
|
||
Orlent H,
|
||
Meersseman W,
|
||
Cassiman D</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2013 Aug;25(8):892-8.
|
||
doi: 10.1097/MEG.0b013e32835ee629.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23426270" target="_blank">23426270</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20DNA%20depletion%20syndrome%201%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33916195">Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mencias M,
|
||
Levene M,
|
||
Blighe K,
|
||
Bax BE,
|
||
On Behalf Of The Project Group</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 1;22(7)
|
||
doi: 10.3390/ijms22073681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33916195" target="_blank">33916195</a><a href="/pmc/articles/PMC8037498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30582904">MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corazza G,
|
||
Pagan C,
|
||
Hardy G,
|
||
Besson G,
|
||
Lombès A;
|
||
MNGIE project</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2019 Apr;156(5):1525-1527.e4.
|
||
Epub 2018 Dec 22
|
||
doi: 10.1053/j.gastro.2018.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30582904" target="_blank">30582904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24807807">Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Estévez S,
|
||
Ferrer G,
|
||
Torres-Torronteras J,
|
||
Mansilla MJ,
|
||
Casacuberta-Serra S,
|
||
Martorell L,
|
||
Hirano M,
|
||
Martí R,
|
||
Barquinero J</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2014 Jul;21(7):673-81.
|
||
Epub 2014 May 8
|
||
doi: 10.1038/gt.2014.41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24807807" target="_blank">24807807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23426270">Mitochondrial hepatopathy in adults: a case series and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cloots K,
|
||
Verbeek J,
|
||
Orlent H,
|
||
Meersseman W,
|
||
Cassiman D</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2013 Aug;25(8):892-8.
|
||
doi: 10.1097/MEG.0b013e32835ee629.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23426270" target="_blank">23426270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21933806">Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garone C,
|
||
Tadesse S,
|
||
Hirano M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2011 Nov;134(Pt 11):3326-32.
|
||
Epub 2011 Sep 20
|
||
doi: 10.1093/brain/awr245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21933806" target="_blank">21933806</a><a href="/pmc/articles/PMC3212717" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20DNA%20depletion%20syndrome%201%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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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 id="my-toc"></ul></div>
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|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551995%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551995%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (76)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551995%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551995%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551995%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (90)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551995%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551995%5bDISCUI%5d" target="_blank">See all (104)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603041" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Mitochondrial%20DNA%20depletion%20syndrome%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mitochondrial%20dna%20depletion%20syndrome%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed?term=Mitochondrial%20DNA%20depletion%20syndrome%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1631838" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1631838" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5879b15b832ebc2612fe">Mitochondrial DNA depletion syndrome 1</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb587784f3725e5957d9d8">C0342782[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(68)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb587684f3725e5957d389">Mitochondrial DNA depletion syndrome</a>
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