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<meta name="keywords" content="C0282529, cdpr, chondrodysplasia punctata, autosomal recessive type, chondrodysplasia punctata, rhizomelic, chondrodysplasia punctata, rhizomelic form, chondrodysplasia punctata, rhizomelic type, chondrodysplasia punctatas, rhizomelic, disease or syndrome, punctata, rhizomelic chondrodysplasia, punctatas, rhizomelic chondrodysplasia, rcdp, rcdp - rhizomelic chondrodysplasia punctata, rhizomelic chondrodysplasia punctata, rhizomelic chondrodysplasia punctata syndrome, rhizomelic chondrodysplasia punctatas, rhizomelic dwarfism, 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="A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=79471
|
||
ConceptID=C0282529
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rhizomelic chondrodysplasia punctata<span class="h1sub">(RCDP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79471</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:">C0282529</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>RCDP</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>RCDP - Rhizomelic chondrodysplasia punctata (56692003); Chondrodysplasia punctata, autosomal recessive type (56692003); Rhizomelic chondrodysplasia punctata (56692003); Rhizomelic chondrodysplasia punctata syndrome (56692003); Chondrodysplasia punctata, rhizomelic type (56692003)</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>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015776" target="_blank">MONDO:0015776</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/215100" target="_blank">215100</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS215100" target="_blank">PS215100</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=177">ORPHA177</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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>
|
||
<div class="portlet_content ln">A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
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</div>
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||
|
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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>
|
||
<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0282529[DISCUI]&test_type=Clinical" ref="ncbi_uid=79471">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0282529[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=79471">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=79471" target="_blank" href="/omim/215100">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=79471" ref="ncbi_uid=79471">V</a></span></span><span class="TLline">Rhizomelic chondrodysplasia punctata</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/2309" ref="tree=MeSH" title="MedGen record for Bone development disease">Bone development disease</a></span><ul><li><span class="TLline"><a href="/medgen/10495" ref="tree=MeSH" title="MedGen record for Osteochondrodysplasia">Osteochondrodysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/3052" ref="tree=MeSH" title="MedGen record for Chondrodysplasia punctata">Chondrodysplasia punctata</a></span><ul><li><span class="matched_ds">Rhizomelic chondrodysplasia punctata</span><ul><li><span class="TLline"><a href="/medgen/347072" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 1">Rhizomelic chondrodysplasia punctata type 1</a></span></li><li><span class="TLline"><a href="/medgen/341734" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 2">Rhizomelic chondrodysplasia punctata type 2</a></span></li><li><span class="TLline"><a href="/medgen/374012" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 3">Rhizomelic chondrodysplasia punctata type 3</a></span></li><li><span class="TLline"><a href="/medgen/900333" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 5">Rhizomelic chondrodysplasia punctata type 5</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=3567&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Rhizomelic chondrodysplasia punctata</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30226976">PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdogdu E,
|
||
Dilek N,
|
||
Arisoy R,
|
||
Tahaoglu AE,
|
||
Karacor T,
|
||
Andan C</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2016;27(4):533-535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30226976" target="_blank">30226976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10527683">Genotype-phenotype correlations in disorders of peroxisome biogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moser HW</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
1999 Oct;68(2):316-27.
|
||
doi: 10.1006/mgme.1999.2926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10527683" target="_blank">10527683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2509803">Prenatal and perinatal diagnosis of peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schutgens RB,
|
||
Schrakamp G,
|
||
Wanders RJ,
|
||
Heymans HS,
|
||
Tager JM,
|
||
van den Bosch H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1989;12 Suppl 1:118-34.
|
||
doi: 10.1007/BF01799291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2509803" target="_blank">2509803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rhizomelic%20chondrodysplasia%20punctata%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 (10)</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/35986576">Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">İli EG,
|
||
Gezdirici A,
|
||
Di Pietro E,
|
||
Yergeau C,
|
||
Braverman N</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Nov;188(11):3229-3235.
|
||
Epub 2022 Aug 20
|
||
doi: 10.1002/ajmg.a.62959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35986576" target="_blank">35986576</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622381">Peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aubourg P,
|
||
Wanders R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1593-609.
|
||
doi: 10.1016/B978-0-444-59565-2.00028-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622381" target="_blank">23622381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18633975">Investigational methods for peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinberg S,
|
||
Jones R,
|
||
Tiffany C,
|
||
Moser A</span><br />
|
||
<span class="medgenPMjournal">Curr Protoc Hum Genet</span>
|
||
2008 Jul;Chapter 17:Unit 17.6.
|
||
doi: 10.1002/0471142905.hg1706s58.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18633975" target="_blank">18633975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16799769">Phytanic acid: production from phytol, its breakdown and role in human disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Brink DM,
|
||
Wanders RJ</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2006 Aug;63(15):1752-65.
|
||
doi: 10.1007/s00018-005-5463-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16799769" target="_blank">16799769</a><a href="/pmc/articles/PMC11136310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12740827">Human peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Depreter M,
|
||
Espeel M,
|
||
Roels F</span><br />
|
||
<span class="medgenPMjournal">Microsc Res Tech</span>
|
||
2003 Jun 1;61(2):203-23.
|
||
doi: 10.1002/jemt.10330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12740827" target="_blank">12740827</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhizomelic%20chondrodysplasia%20punctata%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 (68)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622381">Peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aubourg P,
|
||
Wanders R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1593-609.
|
||
doi: 10.1016/B978-0-444-59565-2.00028-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622381" target="_blank">23622381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22422205">Peroxisomal leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poll-The BT,
|
||
Engelen M</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2012 Feb;32(1):42-50.
|
||
Epub 2012 Mar 15
|
||
doi: 10.1055/s-0032-1306385.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22422205" target="_blank">22422205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22692643">Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinnion RJ,
|
||
Davidson N,
|
||
Moran P,
|
||
Wright M,
|
||
Harigopal S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2011 Jun 19;2011
|
||
doi: 10.1136/bcr.01.2011.3747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22692643" target="_blank">22692643</a><a href="/pmc/articles/PMC3118905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18633975">Investigational methods for peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinberg S,
|
||
Jones R,
|
||
Tiffany C,
|
||
Moser A</span><br />
|
||
<span class="medgenPMjournal">Curr Protoc Hum Genet</span>
|
||
2008 Jul;Chapter 17:Unit 17.6.
|
||
doi: 10.1002/0471142905.hg1706s58.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18633975" target="_blank">18633975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17055079">Peroxisome biogenesis disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinberg SJ,
|
||
Dodt G,
|
||
Raymond GV,
|
||
Braverman NE,
|
||
Moser AB,
|
||
Moser HW</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2006 Dec;1763(12):1733-48.
|
||
Epub 2006 Sep 14
|
||
doi: 10.1016/j.bbamcr.2006.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17055079" target="_blank">17055079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhizomelic%20chondrodysplasia%20punctata%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 (86)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28605393">Drosophila Courtship Conditioning As a Measure of Learning and Memory.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koemans TS,
|
||
Oppitz C,
|
||
Donders RAT,
|
||
van Bokhoven H,
|
||
Schenck A,
|
||
Keleman K,
|
||
Kramer JM</span><br />
|
||
<span class="medgenPMjournal">J Vis Exp</span>
|
||
2017 Jun 5;(124)
|
||
doi: 10.3791/55808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28605393" target="_blank">28605393</a><a href="/pmc/articles/PMC5608251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22627108">Functions of plasmalogen lipids in health and disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman NE,
|
||
Moser AB</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2012 Sep;1822(9):1442-52.
|
||
Epub 2012 May 22
|
||
doi: 10.1016/j.bbadis.2012.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22627108" target="_blank">22627108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11060787">Therapeutic developments in peroxisome biogenesis disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGuinness MC,
|
||
Wei H,
|
||
Smith KD</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Investig Drugs</span>
|
||
2000 Sep;9(9):1985-92.
|
||
doi: 10.1517/13543784.9.9.1985.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11060787" target="_blank">11060787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9266377">Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jansen GA,
|
||
Mihalik SJ,
|
||
Watkins PA,
|
||
Moser HW,
|
||
Jakobs C,
|
||
Heijmans HS,
|
||
Wanders RJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1997 Jul;20(3):444-6.
|
||
doi: 10.1023/a:1005379406639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9266377" target="_blank">9266377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9048670">Epilepsy in peroxisomal diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takahashi Y,
|
||
Suzuki Y,
|
||
Kumazaki K,
|
||
Tanabe Y,
|
||
Akaboshi S,
|
||
Miura K,
|
||
Shimozawa N,
|
||
Kondo N,
|
||
Nishiguchi T,
|
||
Terada K,
|
||
Orii T</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
1997 Feb;38(2):182-8.
|
||
doi: 10.1111/j.1528-1157.1997.tb01095.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9048670" target="_blank">9048670</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhizomelic%20chondrodysplasia%20punctata%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33337545">Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fallatah W,
|
||
Schouten M,
|
||
Yergeau C,
|
||
Di Pietro E,
|
||
Engelen M,
|
||
Waterham HR,
|
||
Poll-The BT,
|
||
Braverman N</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jul;44(4):1021-1038.
|
||
Epub 2021 Jan 26
|
||
doi: 10.1002/jimd.12349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33337545" target="_blank">33337545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22422205">Peroxisomal leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poll-The BT,
|
||
Engelen M</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2012 Feb;32(1):42-50.
|
||
Epub 2012 Mar 15
|
||
doi: 10.1055/s-0032-1306385.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22422205" target="_blank">22422205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22052861">Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oswald G,
|
||
Lawson C,
|
||
Raymond G,
|
||
Golden WC,
|
||
Braverman N</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 Dec;155A(12):3160-3.
|
||
Epub 2011 Nov 3
|
||
doi: 10.1002/ajmg.a.34331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22052861" target="_blank">22052861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16996627">The import receptor Pex7p and the PTS2 targeting sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lazarow PB</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2006 Dec;1763(12):1599-604.
|
||
Epub 2006 Aug 22
|
||
doi: 10.1016/j.bbamcr.2006.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16996627" target="_blank">16996627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12740827">Human peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Depreter M,
|
||
Espeel M,
|
||
Roels F</span><br />
|
||
<span class="medgenPMjournal">Microsc Res Tech</span>
|
||
2003 Jun 1;61(2):203-23.
|
||
doi: 10.1002/jemt.10330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12740827" target="_blank">12740827</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhizomelic%20chondrodysplasia%20punctata%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38884726">Human Genetics of Atrial Septal Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larsen LA,
|
||
Hitz MP</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2024;1441:467-480.
|
||
doi: 10.1007/978-3-031-44087-8_24.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884726" target="_blank">38884726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26686055">Peroxisomes in brain development and function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berger J,
|
||
Dorninger F,
|
||
Forss-Petter S,
|
||
Kunze M</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2016 May;1863(5):934-55.
|
||
Epub 2015 Dec 11
|
||
doi: 10.1016/j.bbamcr.2015.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26686055" target="_blank">26686055</a><a href="/pmc/articles/PMC4880039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25432520">Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malheiro AR,
|
||
da Silva TF,
|
||
Brites P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Jan;38(1):111-21.
|
||
Epub 2014 Nov 29
|
||
doi: 10.1007/s10545-014-9795-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25432520" target="_blank">25432520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21668896">Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akawi NA,
|
||
Al-Gazali L,
|
||
Ali BR</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2012 Aug;82(2):147-56.
|
||
Epub 2011 Jul 18
|
||
doi: 10.1111/j.1399-0004.2011.01734.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21668896" target="_blank">21668896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9266692">Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Vet EC,
|
||
Biermann J,
|
||
van den Bosch H</span><br />
|
||
<span class="medgenPMjournal">Eur J Biochem</span>
|
||
1997 Jul 15;247(2):511-7.
|
||
doi: 10.1111/j.1432-1033.1997.00511.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9266692" target="_blank">9266692</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rhizomelic%20chondrodysplasia%20punctata%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 (53)</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=C0282529%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0282529%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
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<li><a href="/gtr/tests?term=C0282529%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
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<li><a href="/gtr/tests?term=C0282529%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
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<li><a href="/gtr/tests?term=C0282529%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0282529%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rhizomelic%20chondrodysplasia%20punctata%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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