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<meta name="keywords" content="C2932714, congenital abnormality, congenital pontocerebellar hypoplasia type 2, disease or syndrome, pch2, pch2 - pontocerebellar hypoplasia type 2, pontocerebellar hypoplasia type 2, progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy, 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="TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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UID=420956
|
||
ConceptID=C2932714
|
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-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK9673/bin/pc-hypo-p-Image001.gif" src-large="/books/NBK9673/bin/pc-hypo-p-Image001.jpg" /></a><br /><a href="/books/NBK9673/figure/pc-hypo-p.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Pontocerebellar hypoplasia type 2<span class="h1sub">(PCH2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>420956</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2932714</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PCH2; Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital pontocerebellar hypoplasia type 2 (715463008); PCH2 - pontocerebellar hypoplasia type 2 (715463008); Pontocerebellar hypoplasia type 2 (715463008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/283989">TSEN54</a>, <a target="_blank" href="/gene/116461">TSEN15</a>, <a target="_blank" href="/gene/80746">TSEN2</a>, <a target="_blank" href="/gene/79042">TSEN34</a>, <a target="_blank" href="/gene/55275">VPS53</a>, <a target="_blank" href="/gene/51091">SEPSECS</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016759" target="_blank">MONDO:0016759</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2524">ORPHA2524</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/NBK9673" target="_blank">TSEN54 Pontocerebellar Hypoplasia</a></div><div>TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family. [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/NBK9673#pc-hypo-p.Summary" target="NBK9673">Summary</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.GeneReview_Scope" target="NBK9673">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Diagnosis" target="NBK9673">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Clinical_Characteristics" target="NBK9673">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Genetically_Related_Allelic_Di" target="NBK9673">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Differential_Diagnosis" target="NBK9673">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Management" target="NBK9673">Management</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Genetic_Counseling" target="NBK9673">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Resources" target="NBK9673">Resources</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Molecular_Genetics" target="NBK9673">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.Chapter_Notes" target="NBK9673">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK9673#pc-hypo-p.References" target="NBK9673">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Tessa van Dijk | Frank Baas <a href="/books/NBK9673" target="NBK9673" title="NCBI Bookshelf: TSEN54 Pontocerebellar Hypoplasia">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 />Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 (PCH2) is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).
|
||
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).
|
||
Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2
|
||
PCH2B (612389) is caused by mutation in the TSEN2 gene (608753) on chromosome 3p25, and PCH2C (612390) is caused by mutation in the TSEN34 gene (608754) on chromosome 19q13. PCH2D (613811) is caused by mutation in the SEPSECS gene (613009) on chromosome 4p15. PCH2E (615851) is caused by mutation in the VPS53 gene (615850) on chromosome 17p13. PCH2F (617026) is caused by mutation in the TSEN15 gene (608756) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing. <a target="_blank" href="http://www.omim.org/entry/277470">http://www.omim.org/entry/277470</a></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><li><a href="#tabORDO">Orphanet</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=C1261175[DISCUI]&test_type=Clinical" ref="ncbi_uid=224703">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=224703" ref="ncbi_uid=224703">V</a></span></span><span class="TLline"><a href="/medgen/224703" ref="tree=GTR&ncbi_uid=224703&link_uid=224703" title="View MedGen record for 'Pontoneocerebellar hypoplasia'">Pontoneocerebellar hypoplasia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5442006[DISCUI]&test_type=Clinical" ref="ncbi_uid=1780208">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5442006[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1780208">R</a></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=1780208" ref="ncbi_uid=1780208">V</a></span></span><span class="TLline"><a href="/medgen/1780208" ref="tree=GTR&ncbi_uid=1780208&link_uid=1780208" title="View MedGen record for 'Congenital pontocerebellar hypoplasia type 1'">Congenital pontocerebellar hypoplasia type 1</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843504[DISCUI]&test_type=Clinical" ref="ncbi_uid=335969">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335969" target="_blank" href="/omim/602168">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335969" ref="ncbi_uid=335969">V</a></span></span><span class="TLline"><a href="/medgen/335969" ref="tree=GTR&ncbi_uid=335969&link_uid=335969" title="View MedGen record for 'Pontocerebellar hypoplasia type 1A'">Pontocerebellar hypoplasia type 1A</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=C3553449[DISCUI]&test_type=Clinical" ref="ncbi_uid=766363">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766363" target="_blank" href="/omim/606489">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK236968/" ref="ncbi_uid=766363">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766363" ref="ncbi_uid=766363">V</a></span></span><span class="TLline"><a href="/medgen/766363" ref="tree=GTR&ncbi_uid=766363&link_uid=766363" title="View MedGen record for 'Pontocerebellar hypoplasia type 1B'">Pontocerebellar hypoplasia type 1B</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=C4015160[DISCUI]&test_type=Clinical" ref="ncbi_uid=863597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863597" target="_blank" href="/omim/606019">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863597" ref="ncbi_uid=863597">V</a></span></span><span class="TLline"><a href="/medgen/863597" ref="tree=GTR&ncbi_uid=863597&link_uid=863597" title="View MedGen record for 'Pontocerebellar hypoplasia, type 1C'">Pontocerebellar hypoplasia, type 1C</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=C4748058[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648387">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648387" target="_blank" href="/omim/606180">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648387" ref="ncbi_uid=1648387">V</a></span></span><span class="TLline"><a href="/medgen/1648387" ref="tree=GTR&ncbi_uid=1648387&link_uid=1648387" title="View MedGen record for 'Pontocerebellar hypoplasia, type 1D'">Pontocerebellar hypoplasia, type 1D</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2932714[DISCUI]&test_type=Clinical" ref="ncbi_uid=420956">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2932714[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=420956">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9673/" ref="ncbi_uid=420956">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=420956" ref="ncbi_uid=420956">V</a></span></span><span class="TLline">Pontocerebellar hypoplasia type 2</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848526[DISCUI]&test_type=Clinical" ref="ncbi_uid=376379">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376379" target="_blank" href="/omim/277470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9673/" ref="ncbi_uid=376379">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376379" ref="ncbi_uid=376379">V</a></span></span><span class="TLline"><a href="/medgen/376379" ref="tree=GTR&ncbi_uid=376379&link_uid=376379" title="View MedGen record for 'Pontocerebellar hypoplasia type 2A'">Pontocerebellar hypoplasia type 2A</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=C2676466[DISCUI]&test_type=Clinical" ref="ncbi_uid=393505">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393505" target="_blank" href="/omim/608753">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9673/" ref="ncbi_uid=393505">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393505" ref="ncbi_uid=393505">V</a></span></span><span class="TLline"><a href="/medgen/393505" ref="tree=GTR&ncbi_uid=393505&link_uid=393505" title="View MedGen record for 'Pontocerebellar hypoplasia type 2B'">Pontocerebellar hypoplasia type 2B</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=C2676465[DISCUI]&test_type=Clinical" ref="ncbi_uid=382856">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382856" target="_blank" href="/omim/608754">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9673/" ref="ncbi_uid=382856">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382856" ref="ncbi_uid=382856">V</a></span></span><span class="TLline"><a href="/medgen/382856" ref="tree=GTR&ncbi_uid=382856&link_uid=382856" title="View MedGen record for 'Pontocerebellar hypoplasia type 2C'">Pontocerebellar hypoplasia type 2C</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=C3151140[DISCUI]&test_type=Clinical" ref="ncbi_uid=462490">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462490" target="_blank" href="/omim/613009">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462490" ref="ncbi_uid=462490">V</a></span></span><span class="TLline"><a href="/medgen/462490" ref="tree=GTR&ncbi_uid=462490&link_uid=462490" title="View MedGen record for 'Pontocerebellar hypoplasia type 2D'">Pontocerebellar hypoplasia type 2D</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=C4014488[DISCUI]&test_type=Clinical" ref="ncbi_uid=862925">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862925" target="_blank" href="/omim/615850">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862925" ref="ncbi_uid=862925">V</a></span></span><span class="TLline"><a href="/medgen/862925" ref="tree=GTR&ncbi_uid=862925&link_uid=862925" title="View MedGen record for 'Pontocerebellar hypoplasia type 2E'">Pontocerebellar hypoplasia type 2E</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=C4310757[DISCUI]&test_type=Clinical" ref="ncbi_uid=934724">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934724" target="_blank" href="/omim/608756">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934724" ref="ncbi_uid=934724">V</a></span></span><span class="TLline"><a href="/medgen/934724" ref="tree=GTR&ncbi_uid=934724&link_uid=934724" title="View MedGen record for 'Pontocerebellar hypoplasia, type 2F'">Pontocerebellar hypoplasia, type 2F</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842687[DISCUI]&test_type=Clinical" ref="ncbi_uid=334225">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1842687[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=334225">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334225" target="_blank" href="/omim/604918">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334225" ref="ncbi_uid=334225">V</a></span></span><span class="TLline"><a href="/medgen/334225" ref="tree=GTR&ncbi_uid=334225&link_uid=334225" title="View MedGen record for 'Pontocerebellar hypoplasia type 3'">Pontocerebellar hypoplasia type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1856974[DISCUI]&test_type=Clinical" ref="ncbi_uid=384027">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=384027" target="_blank" href="/omim/225753">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9673/" ref="ncbi_uid=384027">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=384027" ref="ncbi_uid=384027">V</a></span></span><span class="TLline"><a href="/medgen/384027" ref="tree=GTR&ncbi_uid=384027&link_uid=384027" title="View MedGen record for 'Pontocerebellar hypoplasia type 4'">Pontocerebellar hypoplasia type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857762[DISCUI]&test_type=Clinical" ref="ncbi_uid=341845">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1857762[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=341845">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341845" target="_blank" href="/omim/608755">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK9673/" ref="ncbi_uid=341845">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341845" ref="ncbi_uid=341845">V</a></span></span><span class="TLline"><a href="/medgen/341845" ref="tree=GTR&ncbi_uid=341845&link_uid=341845" title="View MedGen record for 'Pontocerebellar hypoplasia type 5'">Pontocerebellar hypoplasia type 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=C1969084[DISCUI]&test_type=Clinical" ref="ncbi_uid=370596">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1969084[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=370596">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370596" target="_blank" href="/omim/611523">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370596" ref="ncbi_uid=370596">V</a></span></span><span class="TLline"><a href="/medgen/370596" ref="tree=GTR&ncbi_uid=370596&link_uid=370596" title="View MedGen record for 'Pontocerebellar hypoplasia type 6'">Pontocerebellar hypoplasia type 6</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=C3554209[DISCUI]&test_type=Clinical" ref="ncbi_uid=767123">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767123" target="_blank" href="/omim/164010">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767123" ref="ncbi_uid=767123">V</a></span></span><span class="TLline"><a href="/medgen/767123" ref="tree=GTR&ncbi_uid=767123&link_uid=767123" title="View MedGen record for 'Pontocerebellar hypoplasia type 8'">Pontocerebellar hypoplasia type 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014354[DISCUI]&test_type=Clinical" ref="ncbi_uid=862791">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862791" target="_blank" href="/omim/102771">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862791" ref="ncbi_uid=862791">V</a></span></span><span class="TLline"><a href="/medgen/862791" ref="tree=GTR&ncbi_uid=862791&link_uid=862791" title="View MedGen record for 'Pontocerebellar hypoplasia type 9'">Pontocerebellar hypoplasia type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5190575[DISCUI]&test_type=Clinical" ref="ncbi_uid=1676575">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1676575" target="_blank" href="/omim/608757">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1676575" ref="ncbi_uid=1676575">V</a></span></span><span class="TLline"><a href="/medgen/1676575" ref="tree=GTR&ncbi_uid=1676575&link_uid=1676575" title="View MedGen record for 'Pontocerebellar hypoplasia type 10'">Pontocerebellar hypoplasia type 10</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=C4540164[DISCUI]&test_type=Clinical" ref="ncbi_uid=1627627">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1627627" target="_blank" href="/omim/617687">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1627627" ref="ncbi_uid=1627627">V</a></span></span><span class="TLline"><a href="/medgen/1627627" ref="tree=GTR&ncbi_uid=1627627&link_uid=1627627" title="View MedGen record for 'Pontocerebellar hypoplasia, type 11'">Pontocerebellar hypoplasia, type 11</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/474392" ref="tree=MeSH" title="MedGen record for Brain Development Abnormality">Brain Development Abnormality</a></span><ul><li><span class="matched_ds">Pontocerebellar hypoplasia type 2</span><ul><li><span class="TLline"><a href="/medgen/376379" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 2A">Pontocerebellar hypoplasia type 2A</a></span></li><li><span class="TLline"><a href="/medgen/393505" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 2B">Pontocerebellar hypoplasia type 2B</a></span></li><li><span class="TLline"><a href="/medgen/382856" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 2C">Pontocerebellar hypoplasia type 2C</a></span></li><li><span class="TLline"><a href="/medgen/462490" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 2D">Pontocerebellar hypoplasia type 2D</a></span></li><li><span class="TLline"><a href="/medgen/862925" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 2E">Pontocerebellar hypoplasia type 2E</a></span></li><li><span class="TLline"><a href="/medgen/934724" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia, type 2F">Pontocerebellar hypoplasia, type 2F</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2334&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Pontocerebellar hypoplasia type 2</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/25641760">Targeted carrier screening for four recessive disorders: high detection rate within a founder population.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mathijssen IB,
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Henneman L,
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van Eeten-Nijman JM,
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Lakeman P,
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Ottenheim CP,
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Redeker EJ,
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Ottenhof W,
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Meijers-Heijboer H,
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van Maarle MC</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
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2015 Mar;58(3):123-8.
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Epub 2015 Jan 30
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doi: 10.1016/j.ejmg.2015.01.004.
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<span class="bold">PMID: </span><a href="/pubmed/25641760" target="_blank">25641760</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pontocerebellar%20hypoplasia%20type%202%22%5Btiab%3A~0%5D)%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 (1)</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/27430971">Brain morphometry in Pontocerebellar Hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ekert K,
|
||
Groeschel S,
|
||
Sánchez-Albisua I,
|
||
Frölich S,
|
||
Dieckmann A,
|
||
Engel C,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2016 Jul 19;11(1):100.
|
||
doi: 10.1186/s13023-016-0481-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27430971" target="_blank">27430971</a><a href="/pmc/articles/PMC4950429" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24886362">Natural course of pontocerebellar hypoplasia type 2A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Albisua I,
|
||
Frölich S,
|
||
Barth PG,
|
||
Steinlin M,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 May 5;9:70.
|
||
doi: 10.1186/1750-1172-9-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24886362" target="_blank">24886362</a><a href="/pmc/articles/PMC4019562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23307886">Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battini R,
|
||
D'Arrigo S,
|
||
Cassandrini D,
|
||
Guzzetta A,
|
||
Fiorillo C,
|
||
Pantaleoni C,
|
||
Romano A,
|
||
Alfei E,
|
||
Cioni G,
|
||
Santorelli FM</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2014 Apr;29(4):520-5.
|
||
Epub 2013 Jan 9
|
||
doi: 10.1177/0883073812470002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23307886" target="_blank">23307886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23562994">Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bierhals T,
|
||
Korenke GC,
|
||
Uyanik G,
|
||
Kutsche K</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2013 Jun;56(6):325-30.
|
||
Epub 2013 Apr 3
|
||
doi: 10.1016/j.ejmg.2013.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23562994" target="_blank">23562994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17320436">Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinlin M,
|
||
Klein A,
|
||
Haas-Lude K,
|
||
Zafeiriou D,
|
||
Strozzi S,
|
||
Müller T,
|
||
Gubser-Mercati D,
|
||
Schmitt Mechelke T,
|
||
Krägeloh-Mann I,
|
||
Boltshauser E</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2007 May;11(3):146-52.
|
||
Epub 2007 Feb 22
|
||
doi: 10.1016/j.ejpn.2006.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17320436" target="_blank">17320436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pontocerebellar%20hypoplasia%20type%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34255333">Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janzarik WG,
|
||
Krägeloh-Mann I,
|
||
Langer T,
|
||
van Buiren M,
|
||
Schaefer HE,
|
||
Gerner P</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2021 Dec;52(6):495-498.
|
||
Epub 2021 Jul 12
|
||
doi: 10.1055/s-0041-1730445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34255333" target="_blank">34255333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24886362">Natural course of pontocerebellar hypoplasia type 2A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Albisua I,
|
||
Frölich S,
|
||
Barth PG,
|
||
Steinlin M,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 May 5;9:70.
|
||
doi: 10.1186/1750-1172-9-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24886362" target="_blank">24886362</a><a href="/pmc/articles/PMC4019562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23562994">Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bierhals T,
|
||
Korenke GC,
|
||
Uyanik G,
|
||
Kutsche K</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2013 Jun;56(6):325-30.
|
||
Epub 2013 Apr 3
|
||
doi: 10.1016/j.ejmg.2013.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23562994" target="_blank">23562994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20803644">Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham JM Jr,
|
||
Spencer AH,
|
||
Grinberg I,
|
||
Niesen CE,
|
||
Platt LD,
|
||
Maya M,
|
||
Namavar Y,
|
||
Baas F,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Sep;152A(9):2268-76.
|
||
doi: 10.1002/ajmg.a.33579.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20803644" target="_blank">20803644</a><a href="/pmc/articles/PMC2931360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17641900">Pontocerebellar hypoplasia type 2: a neuropathological update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barth PG,
|
||
Aronica E,
|
||
de Vries L,
|
||
Nikkels PG,
|
||
Scheper W,
|
||
Hoozemans JJ,
|
||
Poll-The BT,
|
||
Troost D</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2007 Oct;114(4):373-86.
|
||
Epub 2007 Jul 20
|
||
doi: 10.1007/s00401-007-0263-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17641900" target="_blank">17641900</a><a href="/pmc/articles/PMC2039791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pontocerebellar%20hypoplasia%20type%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17825555">Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barth PG,
|
||
Ryan MM,
|
||
Webster RI,
|
||
Aronica E,
|
||
Kan A,
|
||
Ramkema M,
|
||
Jardine P,
|
||
Poll-The BT</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2008 Jan;18(1):52-8.
|
||
Epub 2007 Sep 6
|
||
doi: 10.1016/j.nmd.2007.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17825555" target="_blank">17825555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pontocerebellar%20hypoplasia%20type%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33971942">The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ammann-Schnell L,
|
||
Groeschel S,
|
||
Kehrer C,
|
||
Frölich S,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 10;16(1):211.
|
||
doi: 10.1186/s13023-021-01828-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33971942" target="_blank">33971942</a><a href="/pmc/articles/PMC8111977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24886362">Natural course of pontocerebellar hypoplasia type 2A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Albisua I,
|
||
Frölich S,
|
||
Barth PG,
|
||
Steinlin M,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 May 5;9:70.
|
||
doi: 10.1186/1750-1172-9-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24886362" target="_blank">24886362</a><a href="/pmc/articles/PMC4019562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23177318">Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI,
|
||
Ververi A,
|
||
Tsitlakidou A,
|
||
Anastasiou A,
|
||
Vargiami E</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2013 Feb;23(2):116-9.
|
||
Epub 2012 Nov 22
|
||
doi: 10.1016/j.nmd.2012.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23177318" target="_blank">23177318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11414645">Near-total absence of the cerebellum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardner RJ,
|
||
Coleman LT,
|
||
Mitchell LA,
|
||
Smith LJ,
|
||
Harvey AS,
|
||
Scheffer IE,
|
||
Storey E,
|
||
Nowotny MJ,
|
||
Sloane RA,
|
||
Lubitz L</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2001 Apr;32(2):62-8.
|
||
doi: 10.1055/s-2001-13882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11414645" target="_blank">11414645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10978619">Fatal outcome in a case of pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grellner W,
|
||
Rohde K,
|
||
Wilske J</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2000 Sep 11;113(1-3):165-72.
|
||
doi: 10.1016/s0379-0738(00)00270-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10978619" target="_blank">10978619</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pontocerebellar%20hypoplasia%20type%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33971942">The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ammann-Schnell L,
|
||
Groeschel S,
|
||
Kehrer C,
|
||
Frölich S,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 10;16(1):211.
|
||
doi: 10.1186/s13023-021-01828-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33971942" target="_blank">33971942</a><a href="/pmc/articles/PMC8111977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27430971">Brain morphometry in Pontocerebellar Hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ekert K,
|
||
Groeschel S,
|
||
Sánchez-Albisua I,
|
||
Frölich S,
|
||
Dieckmann A,
|
||
Engel C,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2016 Jul 19;11(1):100.
|
||
doi: 10.1186/s13023-016-0481-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27430971" target="_blank">27430971</a><a href="/pmc/articles/PMC4950429" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12021950">Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grosso S,
|
||
Mostadini R,
|
||
Cioni M,
|
||
Galluzzi P,
|
||
Morgese G,
|
||
Balestri P</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2002 May;249(5):596-600.
|
||
doi: 10.1007/s004150200069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12021950" target="_blank">12021950</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11952074">Pontocerebellar hypoplasia type 2 and Reye-like syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sans-Fitó A,
|
||
Campistol-Plana J,
|
||
Mas-Salguero MJ,
|
||
Póo-Argüelles P,
|
||
Fernández-Alvarez E</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2002 Feb;17(2):132-4.
|
||
doi: 10.1177/088307380201700208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11952074" target="_blank">11952074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10978619">Fatal outcome in a case of pontocerebellar hypoplasia type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grellner W,
|
||
Rohde K,
|
||
Wilske J</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2000 Sep 11;113(1-3):165-72.
|
||
doi: 10.1016/s0379-0738(00)00270-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10978619" target="_blank">10978619</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pontocerebellar%20hypoplasia%20type%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2932714%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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<li><a href="/gtr/tests?term=C2932714%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
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<li><a href="/gtr/tests?term=C2932714%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2932714%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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