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<meta name="keywords" content="C4014588, aars2, disease or syndrome, leukoencephalopathy, progressive, with ovarian failure, lkenp, 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="AARS2-related disorder includes two distinct phenotypes, infantile-onset cardiomyopathy and neurodegeneration with or without leukoencephalopathy. AARS2-related infantile-onset cardiomyopathy is characterized by hypertrophic cardiomyopathy, hypotonia, skeletal myopathy, and often lung hypoplasia. Some individuals have nonimmune hydrops and/or seizures. AARS2-related neurodegeneration with or without leukoencephalopathy is characterized by movement disorders, cognitive decline, ovarian failure in females, and psychiatric manifestations. Additional neurologic manifestations (seizures, developmental delay, neuropathy, and/or myopathy) and ocular manifestations can also be present." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=863025
|
||
ConceptID=C4014588
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Leukoencephalopathy, progressive, with ovarian failure<span class="h1sub">(LKENP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863025</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.">C4014588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>LKENP</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="AARS2 - ID: 57505 - NCBI Gene" href="/gene/57505" class="medgenPMinfo">AARS2</a> (6p21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014387" target="_blank">MONDO:0014387</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615889" target="_blank">615889</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">
|
||
<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/NBK608563" target="_blank">AARS2-Related Disorder</a></div><div>AARS2-related disorder includes two distinct phenotypes, infantile-onset cardiomyopathy and neurodegeneration with or without leukoencephalopathy. AARS2-related infantile-onset cardiomyopathy is characterized by hypertrophic cardiomyopathy, hypotonia, skeletal myopathy, and often lung hypoplasia. Some individuals have nonimmune hydrops and/or seizures. AARS2-related neurodegeneration with or without leukoencephalopathy is characterized by movement disorders, cognitive decline, ovarian failure in females, and psychiatric manifestations. Additional neurologic manifestations (seizures, developmental delay, neuropathy, and/or myopathy) and ocular manifestations can also be present. [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/NBK608563#aars2-dis.Summary" target="NBK608563">Summary</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.GeneReview_Scope" target="NBK608563">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Diagnosis" target="NBK608563">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Clinical_Characteristics" target="NBK608563">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Genetically_Related_Allelic_Di" target="NBK608563">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Differential_Diagnosis" target="NBK608563">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Management" target="NBK608563">Management</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Genetic_Counseling" target="NBK608563">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Resources" target="NBK608563">Resources</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Molecular_Genetics" target="NBK608563">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.Chapter_Notes" target="NBK608563">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK608563#aars2-dis.References" target="NBK608563">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Tomasz Chmiela | Zbigniew K Wszolek <a href="/books/NBK608563" target="NBK608563" title="NCBI Bookshelf: AARS2-Related Disorder">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</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 />Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014). <a target="_blank" href="http://www.omim.org/entry/615889">http://www.omim.org/entry/615889</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_9963"><div><strong>Premature ovarian insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9963</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.">C0025322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9963">Feature record</a> | <a href="/medgen?term=%22Premature%20ovarian%20insufficiency%22%5BClinical%20Features%5D%20OR%209963%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8166"><div><strong>Apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8166</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.">C0003635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8166">Feature record</a> | <a href="/medgen?term=%22Apraxia%22%5BClinical%20Features%5D%20OR%208166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6072"><div><strong>Periventricular leukomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6072</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.">C0023529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6072">Feature record</a> | <a href="/medgen?term=%22Periventricular%20leukomalacia%22%5BClinical%20Features%5D%20OR%206072%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_17999"><div><strong>Neurodegeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>17999</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.">C0027746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive loss of neural cells and tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/17999">Feature record</a> | <a href="/medgen?term=%22Neurodegeneration%22%5BClinical%20Features%5D%20OR%2017999%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</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.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</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.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68689"><div><strong>Hand tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68689</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.">C0239842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement affecting the hand.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68689">Feature record</a> | <a href="/medgen?term=%22Hand%20tremor%22%5BClinical%20Features%5D%20OR%2068689%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_107445"><div><strong>Loss of speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107445</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.">C0542223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107445">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20speech%22%5BClinical%20Features%5D%20OR%20107445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344402"><div><strong>Progressive leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344402</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.">C1855010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukoencephalopathy that gets more severe with time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344402">Feature record</a> | <a href="/medgen?term=%22Progressive%20leukoencephalopathy%22%5BClinical%20Features%5D%20OR%20344402%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383904"><div><strong>Lateral ventricle dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383904</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.">C1856409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383904">Feature record</a> | <a href="/medgen?term=%22Lateral%20ventricle%20dilatation%22%5BClinical%20Features%5D%20OR%20383904%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%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_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian insufficiency</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_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</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_8166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apraxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</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_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral ventricle dilatation</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_107445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_17999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periventricular leukomalacia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344402" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive leukoencephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858991[DISCUI]&test_type=Clinical" ref="ncbi_uid=347037">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1858991[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=347037">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=347037">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347037" ref="ncbi_uid=347037">V</a></span></span><span class="TLline"><a href="/medgen/347037" ref="tree=GTR&ncbi_uid=347037&link_uid=347037" title="View MedGen record for 'Vanishing white matter disease'">Vanishing white matter disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842419" ref="tree=GTR&ncbi_uid=1842419&link_uid=1842419" title="View MedGen record for 'Congenital or early infantile CACH syndrome'">Congenital or early infantile CACH syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826173" ref="tree=GTR&ncbi_uid=1826173&link_uid=1826173" title="View MedGen record for 'Juvenile or adult CACH syndrome'">Juvenile or adult CACH syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826172" ref="tree=GTR&ncbi_uid=1826172&link_uid=1826172" title="View MedGen record for 'Late infantile CACH syndrome'">Late infantile CACH syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779972[DISCUI]&test_type=Clinical" ref="ncbi_uid=1830482">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830482" target="_blank" href="/omim/603896">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1830482">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830482" ref="ncbi_uid=1830482">V</a></span></span><span class="TLline"><a href="/medgen/1830482" ref="tree=GTR&ncbi_uid=1830482&link_uid=1830482" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 1'">Leukoencephalopathy with vanishing white matter 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841040" target="_blank" href="/omim/606454">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1841040">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841040" ref="ncbi_uid=1841040">V</a></span></span><span class="TLline"><a href="/medgen/1841040" ref="tree=GTR&ncbi_uid=1841040&link_uid=1841040" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 2'">Leukoencephalopathy with vanishing white matter 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841041" target="_blank" href="/omim/606273">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1841041">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841041" ref="ncbi_uid=1841041">V</a></span></span><span class="TLline"><a href="/medgen/1841041" ref="tree=GTR&ncbi_uid=1841041&link_uid=1841041" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 3'">Leukoencephalopathy with vanishing white matter 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830406[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1841042">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841042" target="_blank" href="/omim/606687">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1841042">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841042" ref="ncbi_uid=1841042">V</a></span></span><span class="TLline"><a href="/medgen/1841042" ref="tree=GTR&ncbi_uid=1841042&link_uid=1841042" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 4'">Leukoencephalopathy with vanishing white matter 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830483" target="_blank" href="/omim/603945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1258/" ref="ncbi_uid=1830483">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1830483" ref="ncbi_uid=1830483">V</a></span></span><span class="TLline"><a href="/medgen/1830483" ref="tree=GTR&ncbi_uid=1830483&link_uid=1830483" title="View MedGen record for 'Leukoencephalopathy with vanishing white matter 5'">Leukoencephalopathy with vanishing white matter 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847967[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=341114">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341114" ref="ncbi_uid=341114">V</a></span></span><span class="TLline"><a href="/medgen/341114" ref="tree=GTR&ncbi_uid=341114&link_uid=341114" title="View MedGen record for 'Ovarioleukodystrophy'">Ovarioleukodystrophy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014588[DISCUI]&test_type=Clinical" ref="ncbi_uid=863025">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863025" target="_blank" href="/omim/612035">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK608563/" ref="ncbi_uid=863025">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863025" ref="ncbi_uid=863025">V</a></span></span><span class="TLline">Leukoencephalopathy, progressive, with ovarian failure</span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span><ul><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/347037" ref="tree=MeSH" title="MedGen record for Vanishing white matter disease">Vanishing white matter disease</a></span><ul><li><span class="TLline"><a href="/medgen/341114" ref="tree=MeSH" title="MedGen record for Ovarioleukodystrophy">Ovarioleukodystrophy</a></span><ul><li><span class="matched_ds">Leukoencephalopathy, progressive, with ovarian failure</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/30737337">Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Bugiani M,
|
||
Mendes MI,
|
||
Riley LG,
|
||
Smith DEC,
|
||
Rudinger-Thirion J,
|
||
Frugier M,
|
||
Breur M,
|
||
Crawford J,
|
||
van Gaalen J,
|
||
Schouten M,
|
||
Willems M,
|
||
Waisfisz Q,
|
||
Mau-Them FT,
|
||
Rodenburg RJ,
|
||
Taft RJ,
|
||
Keren B,
|
||
Christodoulou J,
|
||
Depienne C,
|
||
Simons C,
|
||
Salomons GS,
|
||
Mochel F</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Mar 12;92(11):e1225-e1237.
|
||
Epub 2019 Feb 8
|
||
doi: 10.1212/WNL.0000000000007098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30737337" target="_blank">30737337</a><a href="/pmc/articles/PMC9281382" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19625339">Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labauge P,
|
||
Horzinski L,
|
||
Ayrignac X,
|
||
Blanc P,
|
||
Vukusic S,
|
||
Rodriguez D,
|
||
Mauguiere F,
|
||
Peter L,
|
||
Goizet C,
|
||
Bouhour F,
|
||
Denier C,
|
||
Confavreux C,
|
||
Obadia M,
|
||
Blanc F,
|
||
de Sèze J,
|
||
Fogli A,
|
||
Boespflug-Tanguy O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2009 Aug;132(Pt 8):2161-9.
|
||
doi: 10.1093/brain/awp171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19625339" target="_blank">19625339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18678442">The ovarioleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathis S,
|
||
Scheper GC,
|
||
Baumann N,
|
||
Petit E,
|
||
Gil R,
|
||
van der Knaap MS,
|
||
Neau JP</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2008 Dec;110(10):1035-7.
|
||
Epub 2008 Aug 3
|
||
doi: 10.1016/j.clineuro.2008.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18678442" target="_blank">18678442</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%2C%20progressive%2C%20with%20ovarian%20failure%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35389136">Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ren Y,
|
||
Yu X,
|
||
Chen B,
|
||
Tang H,
|
||
Niu S,
|
||
Wang X,
|
||
Pan H,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Aug;43(8):4961-4977.
|
||
Epub 2022 Apr 7
|
||
doi: 10.1007/s10072-022-06011-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35389136" target="_blank">35389136</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30737337">Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Knaap MS,
|
||
Bugiani M,
|
||
Mendes MI,
|
||
Riley LG,
|
||
Smith DEC,
|
||
Rudinger-Thirion J,
|
||
Frugier M,
|
||
Breur M,
|
||
Crawford J,
|
||
van Gaalen J,
|
||
Schouten M,
|
||
Willems M,
|
||
Waisfisz Q,
|
||
Mau-Them FT,
|
||
Rodenburg RJ,
|
||
Taft RJ,
|
||
Keren B,
|
||
Christodoulou J,
|
||
Depienne C,
|
||
Simons C,
|
||
Salomons GS,
|
||
Mochel F</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Mar 12;92(11):e1225-e1237.
|
||
Epub 2019 Feb 8
|
||
doi: 10.1212/WNL.0000000000007098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30737337" target="_blank">30737337</a><a href="/pmc/articles/PMC9281382" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22699478">Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imam I,
|
||
Brown J,
|
||
Lee P,
|
||
Thomas PK,
|
||
Manji H</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2011 Mar 24;2011
|
||
doi: 10.1136/bcr.11.2010.3552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22699478" target="_blank">22699478</a><a href="/pmc/articles/PMC3070385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19625339">Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labauge P,
|
||
Horzinski L,
|
||
Ayrignac X,
|
||
Blanc P,
|
||
Vukusic S,
|
||
Rodriguez D,
|
||
Mauguiere F,
|
||
Peter L,
|
||
Goizet C,
|
||
Bouhour F,
|
||
Denier C,
|
||
Confavreux C,
|
||
Obadia M,
|
||
Blanc F,
|
||
de Sèze J,
|
||
Fogli A,
|
||
Boespflug-Tanguy O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2009 Aug;132(Pt 8):2161-9.
|
||
doi: 10.1093/brain/awp171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19625339" target="_blank">19625339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15021247">The latest on leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schiffmann R,
|
||
van der Knaap MS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2004 Apr;17(2):187-92.
|
||
doi: 10.1097/00019052-200404000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15021247" target="_blank">15021247</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%2C%20progressive%2C%20with%20ovarian%20failure%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19625339">Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labauge P,
|
||
Horzinski L,
|
||
Ayrignac X,
|
||
Blanc P,
|
||
Vukusic S,
|
||
Rodriguez D,
|
||
Mauguiere F,
|
||
Peter L,
|
||
Goizet C,
|
||
Bouhour F,
|
||
Denier C,
|
||
Confavreux C,
|
||
Obadia M,
|
||
Blanc F,
|
||
de Sèze J,
|
||
Fogli A,
|
||
Boespflug-Tanguy O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2009 Aug;132(Pt 8):2161-9.
|
||
doi: 10.1093/brain/awp171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19625339" target="_blank">19625339</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%2C%20progressive%2C%20with%20ovarian%20failure%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35389136">Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ren Y,
|
||
Yu X,
|
||
Chen B,
|
||
Tang H,
|
||
Niu S,
|
||
Wang X,
|
||
Pan H,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Aug;43(8):4961-4977.
|
||
Epub 2022 Apr 7
|
||
doi: 10.1007/s10072-022-06011-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35389136" target="_blank">35389136</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31438897">Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei C,
|
||
Qin Q,
|
||
Chen F,
|
||
Zhou A,
|
||
Wang F,
|
||
Zuo X,
|
||
Chen R,
|
||
Lyu J,
|
||
Jia J</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2019 Aug 22;19(1):203.
|
||
doi: 10.1186/s12883-019-1429-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31438897" target="_blank">31438897</a><a href="/pmc/articles/PMC6704498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28820624">Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peragallo JH,
|
||
Keller S,
|
||
van der Knaap MS,
|
||
Soares BP,
|
||
Shankar SP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2018 Jan-Feb;39(1):99-102.
|
||
Epub 2017 Aug 18
|
||
doi: 10.1080/13816810.2017.1350723.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28820624" target="_blank">28820624</a><a href="/pmc/articles/PMC6104516" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18678442">The ovarioleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathis S,
|
||
Scheper GC,
|
||
Baumann N,
|
||
Petit E,
|
||
Gil R,
|
||
van der Knaap MS,
|
||
Neau JP</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2008 Dec;110(10):1035-7.
|
||
Epub 2008 Aug 3
|
||
doi: 10.1016/j.clineuro.2008.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18678442" target="_blank">18678442</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leukoencephalopathy%2C%20progressive%2C%20with%20ovarian%20failure%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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<div id="messagearea_bottom">
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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<div class="rightCol mgCol">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014588%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014588%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014588%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4014588%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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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=615889" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Leukoencephalopathy,%20progressive,%20with%20ovarian%20failure" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Leukoencephalopathy%2C%20progressive%2C%20with%20ovarian%20failure%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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|
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