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<!--
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||
UID=266296
|
||
ConceptID=C1306589
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital dyserythropoietic anemia, type II<span class="h1sub">(CDAN2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266296</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.">C1306589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CDA 2; CDAN2; Dyserythropoietic anemia, congenital type 2; DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital dyserythropoietic anemia, type II (68870007); Hereditary erythroblast multinuclearity with positive acid serum test (68870007); HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test (68870007)</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 jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SEC23B - ID: 10483 - NCBI Gene" href="/gene/10483" class="medgenPMinfo">SEC23B</a> (20p11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009134" target="_blank">MONDO:0009134</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/224100" target="_blank">224100</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=98873">ORPHA98873</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">Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. [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>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_3039"><div><strong>Cholelithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3039</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.">C0008350</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hard, pebble-like deposits that form within the gallbladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3039">Feature record</a> | <a href="/medgen?term=%22Cholelithiasis%22%5BClinical%20Features%5D%20OR%203039%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_60089"><div><strong>Reticulocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60089</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.">C0206160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60089">Feature record</a> | <a href="/medgen?term=%22Reticulocytosis%22%5BClinical%20Features%5D%20OR%2060089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_95937"><div><strong>Anemia of inadequate production</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95937</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.">C0392708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of anemia characterized by inadequate production of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95937">Feature record</a> | <a href="/medgen?term=%22Anemia%20of%20inadequate%20production%22%5BClinical%20Features%5D%20OR%2095937%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867361"><div><strong>Reduced level of N-acetylglucosaminyltransferase II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867361</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.">C4021725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867361">Feature record</a> | <a href="/medgen?term=%22Reduced%20level%20of%20N-acetylglucosaminyltransferase%20II%22%5BClinical%20Features%5D%20OR%20867361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871151"><div><strong>Endopolyploidy on chromosome studies of bone marrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871151</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.">C4025624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the number of chromosome sets per cell in bone marrow cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871151">Feature record</a> | <a href="/medgen?term=%22Endopolyploidy%20on%20chromosome%20studies%20of%20bone%20marrow%22%5BClinical%20Features%5D%20OR%20871151%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endopolyploidy on chromosome studies of bone marrow</a></span></li></ul></li><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_95937" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia of inadequate production</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticulocytosis</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced level of N-acetylglucosaminyltransferase II</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholelithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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=C0002876[DISCUI]&test_type=Clinical" ref="ncbi_uid=8064">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=8064" ref="ncbi_uid=8064">V</a></span></span><span class="TLline"><a href="/medgen/8064" ref="tree=GTR&ncbi_uid=8064&link_uid=8064" title="View MedGen record for 'Congenital dyserythropoietic anemia'">Congenital dyserythropoietic anemia</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=C3150926[DISCUI]&test_type=Clinical" ref="ncbi_uid=462276">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3150926[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462276">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462276" target="_blank" href="/omim/600599">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=462276" ref="ncbi_uid=462276">V</a></span></span><span class="TLline"><a href="/medgen/462276" ref="tree=GTR&ncbi_uid=462276&link_uid=462276" title="View MedGen record for 'Congenital dyserythropoietic anemia type 4'">Congenital dyserythropoietic anemia 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=C0271933[DISCUI]&test_type=Clinical" ref="ncbi_uid=82891">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0271933[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=82891">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82891" target="_blank" href="/omim/224120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5313/" ref="ncbi_uid=82891">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82891" ref="ncbi_uid=82891">V</a></span></span><span class="TLline"><a href="/medgen/82891" ref="tree=GTR&ncbi_uid=82891&link_uid=82891" title="View MedGen record for 'Congenital dyserythropoietic anemia, type I'">Congenital dyserythropoietic anemia, type I</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=C5574667[DISCUI]&test_type=Clinical" ref="ncbi_uid=1807106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1807106" target="_blank" href="/omim/224120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5313/" ref="ncbi_uid=1807106">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1807106" ref="ncbi_uid=1807106">V</a></span></span><span class="TLline"><a href="/medgen/1807106" ref="tree=GTR&ncbi_uid=1807106&link_uid=1807106" title="View MedGen record for 'Anemia, congenital dyserythropoietic, type 1a'">Anemia, congenital dyserythropoietic, 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=C3810185[DISCUI]&test_type=Clinical" ref="ncbi_uid=816515">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816515" target="_blank" href="/omim/615626">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5313/" ref="ncbi_uid=816515">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816515" ref="ncbi_uid=816515">V</a></span></span><span class="TLline"><a href="/medgen/816515" ref="tree=GTR&ncbi_uid=816515&link_uid=816515" title="View MedGen record for 'Congenital dyserythropoietic anemia type type 1B'">Congenital dyserythropoietic anemia type type 1B</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=C1306589[DISCUI]&test_type=Clinical" ref="ncbi_uid=266296">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1306589[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=266296">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=266296" target="_blank" href="/omim/224100">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=266296" ref="ncbi_uid=266296">V</a></span></span><span class="TLline">Congenital dyserythropoietic anemia, type II</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5676874[DISCUI]&test_type=Clinical" ref="ncbi_uid=1801596">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1801596" target="_blank" href="/omim/105600">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=1801596" ref="ncbi_uid=1801596">V</a></span></span><span class="TLline"><a href="/medgen/1801596" ref="tree=GTR&ncbi_uid=1801596&link_uid=1801596" title="View MedGen record for 'Congenital dyserythropoietic anemia, type III'">Congenital dyserythropoietic anemia, type III</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=C3550789[DISCUI]&test_type=Clinical" ref="ncbi_uid=763703">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763703" target="_blank" href="/omim/300367">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1364/" ref="ncbi_uid=763703">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=763703" ref="ncbi_uid=763703">V</a></span></span><span class="TLline"><a href="/medgen/763703" ref="tree=GTR&ncbi_uid=763703&link_uid=763703" title="View MedGen record for 'Thrombocytopenia, X-linked, with or without dyserythropoietic anemia'">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span><ul><li><span class="TLline"><a href="/medgen/8064" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia">Congenital dyserythropoietic anemia</a></span><ul><li><span class="matched_ds">Congenital dyserythropoietic anemia, type II</span></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=13890&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital dyserythropoietic anemia, type II</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/20442439">Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazzola M,
|
||
Invernizzi R</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2010 May;95(5):693-5.
|
||
doi: 10.3324/haematol.2009.021683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20442439" target="_blank">20442439</a><a href="/pmc/articles/PMC2864370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20015893">Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Russo R,
|
||
Esposito MR,
|
||
Asci R,
|
||
Piscopo C,
|
||
Perrotta S,
|
||
Fénéant-Thibault M,
|
||
Garçon L,
|
||
Delaunay J</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2010 May;95(5):708-15.
|
||
Epub 2009 Dec 16
|
||
doi: 10.3324/haematol.2009.014985.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20015893" target="_blank">20015893</a><a href="/pmc/articles/PMC2864375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17117609">Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chrobák L</span><br />
|
||
<span class="medgenPMjournal">Acta Medica (Hradec Kralove)</span>
|
||
2006;49(3):193-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17117609" target="_blank">17117609</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20dyserythropoietic%20anemia%2C%20type%20ii%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 (3)</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/37373084">New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musri MM,
|
||
Venturi V,
|
||
Ferrer-Cortès X,
|
||
Romero-Cortadellas L,
|
||
Hernández G,
|
||
Leoz P,
|
||
Ricard Andrés MP,
|
||
Morado M,
|
||
Fernández Valle MDC,
|
||
Beneitez Pastor D,
|
||
Ortuño Cabrero A,
|
||
Moreno Gamiz M,
|
||
Senent Peris L,
|
||
Perez-Valencia AI,
|
||
Pérez-Montero S,
|
||
Tornador C,
|
||
Sánchez M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jun 9;24(12)
|
||
doi: 10.3390/ijms24129935.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/24724984">Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Unal S,
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Russo R,
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Kuskonmaz B,
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2014 Jun;18(4):E130-3.
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<div class="nl"><a target="_blank" href="/pubmed/17127819">Aplastic crisis as a complication of congenital dyserythropoietic anemia type II.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12933587">Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Heimpel H,
|
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Anselstetter V,
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Chrobak L,
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Denecke J,
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Einsiedler B,
|
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Gallmeier K,
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Griesshammer A,
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Janka-Schaub G,
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<span class="bold">PMID: </span><a href="/pubmed/12933587" target="_blank">12933587</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6324425">Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Krikler SH,
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Ferguson DJ,
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Akabutu JJ,
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Lomas CG</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%2C%20type%20II%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35912722">Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24724984">Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Unal S,
|
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Russo R,
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Gumruk F,
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Kuskonmaz B,
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Cetin M,
|
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Sayli T,
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Tavil B,
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Langella C,
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Iolascon A,
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Uckan Cetinkaya D</span><br />
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<span class="medgenPMjournal">Pediatr Transplant</span>
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2014 Jun;18(4):E130-3.
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Epub 2014 Apr 12
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doi: 10.1111/petr.12254.
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<span class="bold">PMID: </span><a href="/pubmed/24724984" target="_blank">24724984</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19150496">Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Denecke J,
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Marquardt T</span><br />
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D'Agostaro G,
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Perrotta S,
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Izzo P,
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<span class="medgenPMjournal">Haematologica</span>
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<div class="nl"><a target="_blank" href="/pubmed/3744513">Congenital dyserythropoietic anemia, type II (HEMPAS).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pati H,
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Arya LS,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%2C%20type%20II%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 (38)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32720728">Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Russo R,
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<div class="nl"><a target="_blank" href="/pubmed/12933587">Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Heimpel H,
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Anselstetter V,
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Chrobak L,
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Denecke J,
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Einsiedler B,
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Gallmeier K,
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Griesshammer A,
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Marquardt T,
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Janka-Schaub G,
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<span class="bold">PMID: </span><a href="/pubmed/12933587" target="_blank">12933587</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%2C%20type%20II%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
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Xiao P,
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Lu J,
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Li J,
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Cheng S,
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Bian X,
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<span class="bold">PMID: </span><a href="/pubmed/38127226" target="_blank">38127226</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33914262">Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen S,
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Guo Z,
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Ye Y,
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Yang S,
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Huang G</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33914262" target="_blank">33914262</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27759939">Distal limb anomalies in patients with congenital dyserythropoietic anemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amir AZ,
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Horev G,
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Yacobovich J,
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<span class="bold">PMID: </span><a href="/pubmed/27759939" target="_blank">27759939</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24123799">Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Braun M,
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Wölfl M,
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Wiegering V,
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Winkler B,
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<div class="nl"><a target="_blank" href="/pubmed/12933587">Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heimpel H,
|
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Anselstetter V,
|
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Chrobak L,
|
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Denecke J,
|
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Einsiedler B,
|
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Gallmeier K,
|
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Griesshammer A,
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Marquardt T,
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Janka-Schaub G,
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Kron M,
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Kohne E</span><br />
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<span class="medgenPMjournal">Blood</span>
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2003 Dec 15;102(13):4576-81.
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Epub 2003 Aug 21
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<span class="bold">PMID: </span><a href="/pubmed/12933587" target="_blank">12933587</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%2C%20type%20II%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/22208203">Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Punzo F,
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Bertoli-Avella AM,
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Scianguetta S,
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Della Ragione F,
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Casale M,
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Ronzoni L,
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Cappellini MD,
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Forni G,
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<span class="bold">PMID: </span><a href="/pubmed/22208203" target="_blank">22208203</a><a href="/pmc/articles/PMC3269369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19150496">Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denecke J,
|
||
Marquardt T</span><br />
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<span class="medgenPMjournal">Biochim Biophys Acta</span>
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2009 Sep;1792(9):915-20.
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Epub 2008 Dec 25
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<span class="bold">PMID: </span><a href="/pubmed/19150496" target="_blank">19150496</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12933587">Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heimpel H,
|
||
Anselstetter V,
|
||
Chrobak L,
|
||
Denecke J,
|
||
Einsiedler B,
|
||
Gallmeier K,
|
||
Griesshammer A,
|
||
Marquardt T,
|
||
Janka-Schaub G,
|
||
Kron M,
|
||
Kohne E</span><br />
|
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<span class="medgenPMjournal">Blood</span>
|
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2003 Dec 15;102(13):4576-81.
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Epub 2003 Aug 21
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doi: 10.1182/blood-2003-02-0613.
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||
<span class="bold">PMID: </span><a href="/pubmed/12933587" target="_blank">12933587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6324425">Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krikler SH,
|
||
Ferguson DJ,
|
||
Akabutu JJ,
|
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Lomas CG</span><br />
|
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<span class="medgenPMjournal">Transfusion</span>
|
||
1984 Mar-Apr;24(2):169-70.
|
||
doi: 10.1046/j.1537-2995.1984.24284173353.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6324425" target="_blank">6324425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4276255">Electronmicroscopic and biochemical observations on erythroid cells in congenital dyserythropoietic anemia type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerkhoven P,
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Marti HR,
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Hug G</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%2C%20type%20II%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 (23)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1306589%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C1306589%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1306589%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1306589%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C1306589%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1306589%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
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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://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=224100" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98873" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20dyserythropoietic%20anemia,%20type%20II" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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