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<!--
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UID=866800
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ConceptID=C4021152
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal CNS myelination</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866800</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.">C4021152</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormal formation of myelin sheaths</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011400">HP:0011400</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">An abnormality of myelination of nerves in the central nervous system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="matched_ds"><span class="TLline">Abnormal CNS myelination</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><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="matched_ds">Abnormal CNS myelination</span><ul><li><span class="TLline"><a href="/medgen/343222" ref="tree=MeSH" title="MedGen record for Cerebral dysmyelination">Cerebral dysmyelination</a></span></li><li><span class="TLline"><a href="/medgen/137898" ref="tree=MeSH" title="MedGen record for CNS demyelination">CNS demyelination</a></span><ul><li><span class="TLline"><a href="/medgen/870483" ref="tree=MeSH" title="MedGen record for Diffuse demyelination of the cerebral white matter">Diffuse demyelination of the cerebral white matter</a></span></li><li><span class="TLline"><a href="/medgen/341813" ref="tree=MeSH" title="MedGen record for Patchy demyelination of subcortical white matter">Patchy demyelination of subcortical white matter</a></span></li><li><span class="TLline"><a href="/medgen/343453" ref="tree=MeSH" title="MedGen record for Severe demyelination of the white matter">Severe demyelination of the white matter</a></span></li><li><span class="TLline"><a href="/medgen/870266" ref="tree=MeSH" title="MedGen record for Spinal cord posterior columns myelin loss">Spinal cord posterior columns myelin loss</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868348" ref="tree=MeSH" title="MedGen record for CNS hypermyelination">CNS hypermyelination</a></span></li><li><span class="TLline"><a href="/medgen/892446" ref="tree=MeSH" title="MedGen record for CNS hypomyelination">CNS hypomyelination</a></span><ul><li><span class="TLline"><a href="/medgen/383084" ref="tree=MeSH" title="MedGen record for Cerebral hypomyelination">Cerebral hypomyelination</a></span></li><li><span class="TLline"><a href="/medgen/1782808" ref="tree=MeSH" title="MedGen record for Spinal hypomyelination">Spinal hypomyelination</a></span></li></ul></li><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/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/315918" ref="tree=MeSH" title="MedGen record for Adrenomyeloneuropathy">Adrenomyeloneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1641046" ref="tree=MeSH" title="MedGen record for Cerebral Adrenoleukodystrophy">Cerebral Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1708324" ref="tree=MeSH" title="MedGen record for X-linked cerebral adrenoleukodystrophy">X-linked cerebral adrenoleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/356995" ref="tree=MeSH" title="MedGen record for Adult-onset autosomal dominant demyelinating leukodystrophy">Adult-onset autosomal dominant demyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/97953" ref="tree=MeSH" title="MedGen record for Aicardi Goutieres syndrome">Aicardi Goutieres syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/162912" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1">Aicardi-Goutieres syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/483677" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 2">Aicardi-Goutieres syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/324389" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 3">Aicardi-Goutieres syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/332084" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 4">Aicardi-Goutieres syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/413116" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 5">Aicardi-Goutieres syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/761287" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 6">Aicardi-Goutieres syndrome 6</a></span></li></ul></li><li><span class="TLline"><a 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class="TLline"><a href="/medgen/542952" ref="tree=MeSH" title="MedGen record for Cavitating leukodystrophy">Cavitating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/116041" ref="tree=MeSH" title="MedGen record for Cholestanol storage disease">Cholestanol storage disease</a></span></li><li><span class="TLline"><a href="/medgen/416646" ref="tree=MeSH" title="MedGen record for Cystic leukoencephalopathy without megalencephaly">Cystic leukoencephalopathy without megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/220946" ref="tree=MeSH" title="MedGen record for Deficiency of ribose-5-phosphate isomerase">Deficiency of ribose-5-phosphate isomerase</a></span></li><li><span class="TLline"><a href="/medgen/387794" ref="tree=MeSH" title="MedGen record for Dermatoleukodystrophy">Dermatoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/479834" ref="tree=MeSH" title="MedGen record for Dysmyelinating leukodystrophy">Dysmyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1805057" ref="tree=MeSH" title="MedGen record for Early-onset calcifying leukoencephalopathy-skeletal dysplasia">Early-onset calcifying leukoencephalopathy-skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/44131" ref="tree=MeSH" title="MedGen record for Galactosylceramide beta-galactosidase deficiency">Galactosylceramide beta-galactosidase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/120623" ref="tree=MeSH" title="MedGen record for Adult Krabbe disease">Adult Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/148270" ref="tree=MeSH" title="MedGen record for Infantile Krabbe disease">Infantile Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/830969" ref="tree=MeSH" title="MedGen record for Late-infantile/juvenile Krabbe disease">Late-infantile/juvenile Krabbe disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/374177" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 2">Hereditary spastic paraplegia 2</a></span></li><li><span class="TLline"><a href="/medgen/436642" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 6">Hypomyelinating leukodystrophy 6</a></span></li><li><span class="TLline"><a href="/medgen/863760" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 9">Hypomyelinating leukodystrophy 9</a></span></li><li><span class="TLline"><a href="/medgen/905068" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 12">Hypomyelinating leukodystrophy 12</a></span></li><li><span class="TLline"><a href="/medgen/482274" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism">Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/501134" ref="tree=MeSH" title="MedGen record for Hypomyelination and Congenital Cataract">Hypomyelination and Congenital Cataract</a></span></li><li><span class="TLline"><a href="/medgen/1667792" ref="tree=MeSH" title="MedGen record for Hypomyelination with brain stem and spinal cord involvement and leg spasticity">Hypomyelination with brain stem and spinal cord involvement and leg spasticity</a></span></li><li><span class="TLline"><a href="/medgen/930413" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with bilateral anterior temporal lobe cysts">Leukoencephalopathy with bilateral anterior temporal lobe cysts</a></span></li><li><span class="TLline"><a href="/medgen/370845" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome">Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1638681" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with mild cerebellar ataxia and white matter edema">Leukoencephalopathy with mild cerebellar ataxia and white matter edema</a></span></li><li><span class="TLline"><a href="/medgen/1794139" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, diffuse hereditary, with spheroids 1">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></span></li><li><span class="TLline"><a href="/medgen/1645614" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347006" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts">Megalencephalic leukoencephalopathy with subcortical cysts</a></span><ul><li><span class="TLline"><a href="/medgen/1826136" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 1">Megalencephalic leukoencephalopathy with subcortical cysts 1</a></span></li><li><span class="TLline"><a href="/medgen/462705" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2A">Megalencephalic leukoencephalopathy with subcortical cysts 2A</a></span></li><li><span class="TLline"><a href="/medgen/462706" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/199625" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, adult type">Metachromatic leukodystrophy, adult type</a></span></li><li><span class="TLline"><a href="/medgen/155528" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, juvenile type">Metachromatic leukodystrophy, juvenile type</a></span></li><li><span class="TLline"><a href="/medgen/155529" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, late infantile form">Metachromatic leukodystrophy, late infantile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/899010" ref="tree=MeSH" title="MedGen record for Multiple mitochondrial dysfunctions syndrome 4">Multiple mitochondrial dysfunctions syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1684142" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</a></span></li><li><span class="TLline"><a href="/medgen/1806079" ref="tree=MeSH" title="MedGen record for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy">Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/373160" ref="tree=MeSH" title="MedGen record for PCWH syndrome">PCWH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894734" ref="tree=MeSH" title="MedGen record for Pelizaeus Merzbacher like disease">Pelizaeus Merzbacher like disease</a></span><ul><li><span class="TLline"><a href="/medgen/325157" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 2">Hypomyelinating leukodystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/342403" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 3">Hypomyelinating leukodystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/383026" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 4">Hypomyelinating leukodystrophy 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span><ul><li><span class="TLline"><a href="/medgen/1740046" ref="tree=MeSH" title="MedGen record for Null syndrome">Null syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1753109" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease in female carriers">Pelizaeus-Merzbacher disease in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/155959" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, classic form">Pelizaeus-Merzbacher disease, classic form</a></span></li><li><span class="TLline"><a href="/medgen/1842817" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, connatal form">Pelizaeus-Merzbacher disease, connatal form</a></span></li><li><span class="TLline"><a href="/medgen/199764" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, transitional form">Pelizaeus-Merzbacher disease, transitional form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/330407" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder">Peroxisome biogenesis disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1648474" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1A (Zellweger)">Peroxisome biogenesis disorder 1A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/1653860" ref="tree=MeSH" title="MedGen record for Peroxisome Biogenesis Disorder 1B">Peroxisome Biogenesis Disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/763187" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 2A (Zellweger)">Peroxisome biogenesis disorder 2A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/763148" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 2B">Peroxisome biogenesis disorder 2B</a></span></li><li><span class="TLline"><a href="/medgen/766843" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 3A (Zellweger)">Peroxisome biogenesis disorder 3A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766850" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 4A (Zellweger)">Peroxisome biogenesis disorder 4A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766851" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 4B">Peroxisome biogenesis disorder 4B</a></span></li><li><span class="TLline"><a href="/medgen/766854" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 5A (Zellweger)">Peroxisome biogenesis disorder 5A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/762202" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 5B">Peroxisome biogenesis disorder 5B</a></span></li><li><span class="TLline"><a href="/medgen/766861" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 6A (Zellweger)">Peroxisome biogenesis disorder 6A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766862" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 6B">Peroxisome biogenesis disorder 6B</a></span></li><li><span class="TLline"><a href="/medgen/854881" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 7A (Zellweger)">Peroxisome biogenesis disorder 7A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766865" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 7B">Peroxisome biogenesis disorder 7B</a></span></li><li><span class="TLline"><a href="/medgen/766873" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 8A (Zellweger)">Peroxisome biogenesis disorder 8A (Zellweger)</a></span></li><li><span class="TLline"><a href="/medgen/766874" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 8B">Peroxisome biogenesis disorder 8B</a></span></li><li><span class="TLline"><a href="/medgen/763607" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder type 3B">Peroxisome biogenesis disorder type 3B</a></span></li><li><span class="TLline"><a href="/medgen/772498" ref="tree=MeSH" title="MedGen record for Peroxisome Biogenesis Disorders in the Zellweger Spectrum">Peroxisome Biogenesis Disorders in the Zellweger Spectrum</a></span></li><li><span class="TLline"><a href="/medgen/79471" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata">Rhizomelic chondrodysplasia punctata</a></span></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li><li><span class="TLline"><a href="/medgen/1803536" ref="tree=MeSH" title="MedGen record for POLR3-related leukodystrophy">POLR3-related leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/897960" ref="tree=MeSH" title="MedGen record for Hypomyelinating leukodystrophy 11">Hypomyelinating leukodystrophy 11</a></span></li><li><span class="TLline"><a href="/medgen/1842862" ref="tree=MeSH" title="MedGen record for Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome">Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639554" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome">Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome</a></span></li><li><span class="TLline"><a href="/medgen/502456" ref="tree=MeSH" title="MedGen record for Odontoleukodystrophy">Odontoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842823" ref="tree=MeSH" title="MedGen record for Tremor-ataxia-central hypomyelination syndrome">Tremor-ataxia-central hypomyelination syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387795" ref="tree=MeSH" title="MedGen record for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly</a></span></li><li><span class="TLline"><a href="/medgen/930509" ref="tree=MeSH" title="MedGen record for Progressive cavitating leukoencephalopathy">Progressive cavitating leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/346552" ref="tree=MeSH" title="MedGen record for Progressive encephalopathy with leukodystrophy due to DECR deficiency">Progressive encephalopathy with leukodystrophy due to DECR deficiency</a></span></li><li><span class="TLline"><a href="/medgen/907744" ref="tree=MeSH" title="MedGen record for Ravine syndrome">Ravine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1382553" ref="tree=MeSH" title="MedGen record for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy">Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/335350" ref="tree=MeSH" title="MedGen record for Spondyloepimetaphyseal dysplasia, Bieganski type">Spondyloepimetaphyseal dysplasia, Bieganski type</a></span></li><li><span class="TLline"><a href="/medgen/1780157" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/865564" ref="tree=MeSH" title="MedGen record for Mild Canavan disease">Mild Canavan disease</a></span></li><li><span class="TLline"><a href="/medgen/1826002" ref="tree=MeSH" title="MedGen record for Severe Canavan disease">Severe Canavan disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462340" ref="tree=MeSH" title="MedGen record for Sterol carrier protein 2 deficiency">Sterol carrier protein 2 deficiency</a></span></li><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/1842419" ref="tree=MeSH" title="MedGen record for Congenital or early infantile CACH syndrome">Congenital or early infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826173" ref="tree=MeSH" title="MedGen record for Juvenile or adult CACH syndrome">Juvenile or adult CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826172" ref="tree=MeSH" title="MedGen record for Late infantile CACH syndrome">Late infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830482" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 1">Leukoencephalopathy with vanishing white matter 1</a></span></li><li><span class="TLline"><a href="/medgen/1841040" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 2">Leukoencephalopathy with vanishing white matter 2</a></span></li><li><span class="TLline"><a href="/medgen/1841041" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 3">Leukoencephalopathy with vanishing white matter 3</a></span></li><li><span class="TLline"><a href="/medgen/1841042" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 4">Leukoencephalopathy with vanishing white matter 4</a></span></li><li><span class="TLline"><a href="/medgen/1830483" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 5">Leukoencephalopathy with vanishing white matter 5</a></span></li><li><span class="TLline"><a href="/medgen/341114" ref="tree=MeSH" title="MedGen record for Ovarioleukodystrophy">Ovarioleukodystrophy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_5340"><div><strong>Glycogen storage disease, type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5340</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.">C0017921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/5340">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_39698"><div><strong>Hurler syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39698</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.">C0086795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/39698">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_61440"><div><strong>Pelizaeus-Merzbacher disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61440</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.">C0205711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/61440">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78643"><div><strong>Xeroderma pigmentosum group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78643</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.">C0268136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78643">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_370587"><div><strong>Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370587</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.">C1969055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/370587">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_416646"><div><strong>Cystic leukoencephalopathy without megalencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416646</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.">C2751843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress). Most affected individuals have severe intellectual disability; muscle stiffness (spasticity); and a delay in developing motor skills such as sitting, crawling, and walking. Some do not learn to walk, and most do not develop the ability to speak. Other neurological features that can occur in RNAse T2-deficient leukoencephalopathy include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), seizures, involuntary writhing movements of the hands (athetosis), uncontrolled muscle tensing (dystonia), and involuntary eye movements (nystagmus). In addition to the neurological problems associated with this disorder, some affected individuals have unusual facial features sometimes described as a "doll-like face."\n\nThe neurological problems in this disorder are caused by abnormalities in the brain. People with this condition have leukoencephalopathy, an abnormality of the brain's white matter that can be detected with medical imaging. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In people with RNAse T2-deficient leukoencephalopathy, myelin is not made in sufficient amounts during development, leading to patchy white matter abnormalities (lesions) in the brain. In addition, individuals with RNAse T2-deficient leukoencephalopathy may have cysts in regions of the brain called the temporal lobes and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. The white matter lesions are primarily concentrated around the cysts and the ventricles. An abnormally small head and brain size (microcephaly) often occurs in this disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416646">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862808"><div><strong>Immunodeficiency 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862808</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.">C4014371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862808">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1746545"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1746545</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.">C5436692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Weraarpachai et al., 2012). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1746545">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794242"><div><strong>Hengel-Maroofian-Schols syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794242</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.">C5562032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, pyramidal signs manifest as lower limb spasticity, poor overall growth often with short stature and microcephaly, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy (Hengel et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841145"><div><strong>Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841145</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.">C5830509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841145">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic leukoencephalopathy without megalencephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hengel-Maroofian-Schols syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hurler syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 23</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1746545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelizaeus-Merzbacher disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xeroderma pigmentosum group B</a></div></span></div></div>
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</div>
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|
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<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/27492885">Genetic evidence for a role of the SREBP transcription system and lipid biosynthesis in schizophrenia and antipsychotic treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steen VM,
|
||
Skrede S,
|
||
Polushina T,
|
||
López M,
|
||
Andreassen OA,
|
||
Fernø J,
|
||
Hellard SL</span><br />
|
||
<span class="medgenPMjournal">Eur Neuropsychopharmacol</span>
|
||
2017 Jun;27(6):589-598.
|
||
Epub 2016 Aug 1
|
||
doi: 10.1016/j.euroneuro.2016.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27492885" target="_blank">27492885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25579386">Transcriptional Regulation of Brain-Derived Neurotrophic Factor (BDNF) by Methyl CpG Binding Protein 2 (MeCP2): a Novel Mechanism for Re-Myelination and/or Myelin Repair Involved in the Treatment of Multiple Sclerosis (MS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">KhorshidAhmad T,
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Acosta C,
|
||
Cortes C,
|
||
Lakowski TM,
|
||
Gangadaran S,
|
||
Namaka M</span><br />
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||
<span class="medgenPMjournal">Mol Neurobiol</span>
|
||
2016 Mar;53(2):1092-1107.
|
||
Epub 2015 Jan 13
|
||
doi: 10.1007/s12035-014-9074-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25579386" target="_blank">25579386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23870612">Quetiapine fumarate for the treatment of multiple sclerosis: focus on myelin repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhornitsky S,
|
||
Wee Yong V,
|
||
Koch MW,
|
||
Mackie A,
|
||
Potvin S,
|
||
Patten SB,
|
||
Metz LM</span><br />
|
||
<span class="medgenPMjournal">CNS Neurosci Ther</span>
|
||
2013 Oct;19(10):737-44.
|
||
Epub 2013 Jul 22
|
||
doi: 10.1111/cns.12154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23870612" target="_blank">23870612</a><a href="/pmc/articles/PMC6493439" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cns%20myelination)%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 (11)</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/32532876">A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cömert C,
|
||
Brick L,
|
||
Ang D,
|
||
Palmfeldt J,
|
||
Meaney BF,
|
||
Kozenko M,
|
||
Georgopoulos C,
|
||
Fernandez-Guerra P,
|
||
Bross P</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2020 Jun;6(3)
|
||
Epub 2020 Jun 12
|
||
doi: 10.1101/mcs.a004879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32532876" target="_blank">32532876</a><a href="/pmc/articles/PMC7304351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20CNS%20myelination%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34737199">Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muirhead KJ,
|
||
Clause AR,
|
||
Schlachetzki Z,
|
||
Dubbs H,
|
||
Perry DL,
|
||
Hagelstrom RT,
|
||
Taft RJ,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2021 Dec;7(6)
|
||
Epub 2021 Dec 9
|
||
doi: 10.1101/mcs.a006143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34737199" target="_blank">34737199</a><a href="/pmc/articles/PMC8751417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32532876">A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cömert C,
|
||
Brick L,
|
||
Ang D,
|
||
Palmfeldt J,
|
||
Meaney BF,
|
||
Kozenko M,
|
||
Georgopoulos C,
|
||
Fernandez-Guerra P,
|
||
Bross P</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2020 Jun;6(3)
|
||
Epub 2020 Jun 12
|
||
doi: 10.1101/mcs.a004879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32532876" target="_blank">32532876</a><a href="/pmc/articles/PMC7304351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20CNS%20myelination%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 (2)</a></div></div>
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||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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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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<div>
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<div class="rightCol mgCol">
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<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_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://clinicaltrials.gov/search?cond=Abnormal%20CNS%20myelination" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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