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<meta name="keywords" content="C0002876, anemia, congenital dyserythropoietic, anemia, dyserythropoietic, congenital, anemias, congenital dyserythropoietic, cda, cda - congenital dyserythropoietic anemia, congenital dyserythropoietic anemia, congenital dyserythropoietic anemias, congenital dyshaematopoietic anaemia, congenital dyshaematopoietic anemia, disease or syndrome, dyserythropoietic anemia, congenital, dyserythropoietic anemias, congenital, 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="Congenital dyserythropoietic anemia (CDA) is a rare group of inherited blood disorders that affects the development of red blood cells. In people with CDA, immature red blood cells do not develop into normal, mature cells. As a result, affected individuals have a significant reduction in the number of functional red blood cells (anemia). The term "dyserythropoietic" refers to the abnormal red blood cell shape that occurs in people with this condition. People with CDA typically have mild to moderate anemia. In some cases, affected individuals have severe anemia that may require frequent blood transfusions to replenish the supply of red blood cells.\n\nThe signs and symptoms of CDA can include tiredness (fatigue), weakness, yellowing of the skin and eyes (jaundice), and an enlarged liver and spleen (hepatosplenomegaly). CDA also causes the body to absorb too much iron (iron overload), which can damage tissues and organs.\n\nThere are multiple types of CDA. Each type has a different genetic cause and distinct but overlapping patterns of signs and symptoms.\n\nCDA type I is characterized by moderate to severe anemia that typically begins in childhood or adolescence, although the condition can be detected before birth in some cases. In addition to the signs and symptoms common to all types of CDA, individuals with CDA type I can have skeletal issues, including short stature or abnormalities of the fingers or toes.\n\nThe anemia associated with CDA type II can range from mild to severe, and it usually develops in adolescence or early adulthood. Individuals with CDA type II may develop hard deposits in the gallbladder called gallstones in addition to the usual signs and symptoms of CDA.\n\nCDA type III can result in anemia that ranges from mild to severe, depending on the genetic cause, and typically begins in infancy or childhood. Some people with CDA type III do not receive a diagnosis until later in life because they have very mild symptoms. In some cases, individuals with CDA type III develop a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). Some people with CDA type III have eye abnormalities that can cause vision impairment.\n\nCDA type IV is characterized by moderate to severe anemia that typically develops early in life, although the condition can be detected before birth in some cases. Affected individuals can have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). In addition to the signs and symptoms that are common to all types of CDA, individuals with CDA type IV often have short stature." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=8064
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ConceptID=C0002876
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital dyserythropoietic anemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8064</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.">C0002876</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>Anemia, Congenital Dyserythropoietic; Anemia, Dyserythropoietic, Congenital; Anemias, Congenital Dyserythropoietic; Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemias; Dyserythropoietic Anemia, Congenital; Dyserythropoietic Anemias, Congenital</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>CDA - congenital dyserythropoietic anemia (52951008); Congenital dyserythropoietic anemia (52951008)</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="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked 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/146059">CDAN1</a>, <a target="_blank" href="/gene/84529">CDIN1</a>, <a target="_blank" href="/gene/10661">KLF1</a>, <a target="_blank" href="/gene/10483">SEC23B</a>, <a target="_blank" href="/gene/9493">KIF23</a>, <a target="_blank" href="/gene/2623">GATA1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019403" target="_blank">MONDO:0019403</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS224120" target="_blank">PS224120</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=85">ORPHA85</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Congenital dyserythropoietic anemia (CDA) is a rare group of inherited blood disorders that affects the development of red blood cells. In people with CDA, immature red blood cells do not develop into normal, mature cells. As a result, affected individuals have a significant reduction in the number of functional red blood cells (anemia). The term "dyserythropoietic" refers to the abnormal red blood cell shape that occurs in people with this condition. People with CDA typically have mild to moderate anemia. In some cases, affected individuals have severe anemia that may require frequent blood transfusions to replenish the supply of red blood cells.<br /><br />The signs and symptoms of CDA can include tiredness (fatigue), weakness, yellowing of the skin and eyes (jaundice), and an enlarged liver and spleen (hepatosplenomegaly). CDA also causes the body to absorb too much iron (iron overload), which can damage tissues and organs.<br /><br />There are multiple types of CDA. Each type has a different genetic cause and distinct but overlapping patterns of signs and symptoms.<br /><br />CDA type I is characterized by moderate to severe anemia that typically begins in childhood or adolescence, although the condition can be detected before birth in some cases. In addition to the signs and symptoms common to all types of CDA, individuals with CDA type I can have skeletal issues, including short stature or abnormalities of the fingers or toes.<br /><br />The anemia associated with CDA type II can range from mild to severe, and it usually develops in adolescence or early adulthood. Individuals with CDA type II may develop hard deposits in the gallbladder called gallstones in addition to the usual signs and symptoms of CDA.<br /><br />CDA type III can result in anemia that ranges from mild to severe, depending on the genetic cause, and typically begins in infancy or childhood. Some people with CDA type III do not receive a diagnosis until later in life because they have very mild symptoms. In some cases, individuals with CDA type III develop a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). Some people with CDA type III have eye abnormalities that can cause vision impairment.<br /><br />CDA type IV is characterized by moderate to severe anemia that typically develops early in life, although the condition can be detected before birth in some cases. Affected individuals can have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). In addition to the signs and symptoms that are common to all types of CDA, individuals with CDA type IV often have short stature. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
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||
</div>
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<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="matched_ds"><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">Congenital dyserythropoietic anemia</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="TLclosed"><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"><a href="/medgen/266296" ref="tree=GTR&ncbi_uid=266296&link_uid=266296" title="View MedGen record for 'Congenital dyserythropoietic anemia, type II'">Congenital dyserythropoietic anemia, type II</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=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="matched_ds">Congenital dyserythropoietic anemia</span><ul><li><span class="TLline"><a href="/medgen/462276" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia type 4">Congenital dyserythropoietic anemia type 4</a></span></li><li><span class="TLline"><a href="/medgen/82891" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia, type I">Congenital dyserythropoietic anemia, type I</a></span><ul><li><span class="TLline"><a href="/medgen/1807106" ref="tree=MeSH" title="MedGen record for Anemia, congenital dyserythropoietic, type 1a">Anemia, congenital dyserythropoietic, type 1a</a></span></li><li><span class="TLline"><a href="/medgen/816515" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia type type 1B">Congenital dyserythropoietic anemia type type 1B</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/266296" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia, type II">Congenital dyserythropoietic anemia, type II</a></span></li><li><span class="TLline"><a href="/medgen/1801596" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia, type III">Congenital dyserythropoietic anemia, type III</a></span></li><li><span class="TLline"><a href="/medgen/928177" ref="tree=MeSH" title="MedGen record for Thrombocytopenia with congenital dyserythropoietic anemia">Thrombocytopenia with congenital dyserythropoietic anemia</a></span></li><li><span class="TLline"><a href="/medgen/763703" ref="tree=MeSH" title="MedGen record for Thrombocytopenia, X-linked, with or without dyserythropoietic anemia">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</a></span></li><li><span class="TLline"><a href="/medgen/763770" ref="tree=MeSH" title="MedGen record for X-linked dyserythropoetic anemia with abnormal platelets and neutropenia">X-linked dyserythropoetic anemia with abnormal platelets and neutropenia</a></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=3565&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital dyserythropoietic anemia</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/29396846">Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo R,
|
||
Andolfo I,
|
||
Manna F,
|
||
Gambale A,
|
||
Marra R,
|
||
Rosato BE,
|
||
Caforio P,
|
||
Pinto V,
|
||
Pignataro P,
|
||
Radhakrishnan K,
|
||
Unal S,
|
||
Tomaiuolo G,
|
||
Forni GL,
|
||
Iolascon A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2018 May;93(5):672-682.
|
||
Epub 2018 Feb 24
|
||
doi: 10.1002/ajh.25058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29396846" target="_blank">29396846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29049846">Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rathe M,
|
||
Møller MB,
|
||
Greisen PW,
|
||
Fisker N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2018 Mar;65(3)
|
||
Epub 2017 Oct 19
|
||
doi: 10.1002/pbc.26866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29049846" target="_blank">29049846</a></div>
|
||
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20dyserythropoietic%20anemia%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 (6)</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/32702750">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Sep 10;136(11):1274-1283.
|
||
doi: 10.1182/blood.2019000948.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32702750" target="_blank">32702750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19327584">The congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renella R,
|
||
Wood WG</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2009 Apr;23(2):283-306.
|
||
doi: 10.1016/j.hoc.2009.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19327584" target="_blank">19327584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698292">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wickramasinghe SN</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):71-8.
|
||
doi: 10.1097/00062752-200003000-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698292" target="_blank">10698292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8571938">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marks PW,
|
||
Mitus AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
1996 Jan;51(1):55-63.
|
||
doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8571938" target="_blank">8571938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7612181">Genetic disorders of the red cell membrane.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delaunay J</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
|
||
1995 Jun;19(2):79-110.
|
||
doi: 10.1016/1040-8428(94)00139-k.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7612181" target="_blank">7612181</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%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 (112)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32702750">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Sep 10;136(11):1274-1283.
|
||
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Horta-Herrera S,
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Morado-Arias M,
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Ricard-Andrés MP,
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Lemes-Castellano A,
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Abio-Calvete M,
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Cedena-Romero MT,
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González-Fernández FA,
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<div class="portlet_content ln"><span class="medgenPMauthor">Denecke J,
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Tamary H,
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Dgany O,
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Cattan D,
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Pariente A,
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Thulliez M,
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Borot N,
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Moati L,
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Barthelme A,
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Shalmon L,
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Krasnov T,
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Ben-Asher E,
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Olender T,
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Khen M,
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Yaniv I,
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Zaizov R,
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Shalev H,
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Delaunay J,
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Fellous M,
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Lancet D,
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Beckmann JS</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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|
||
doi: 10.1038/sj.ejhg.5200991.
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<span class="bold">PMID: </span><a href="/pubmed/12825070" target="_blank">12825070</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8571938">Congenital dyserythropoietic anemias.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20dyserythropoietic%20anemia%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 (85)</a></div></div>
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||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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|
||
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||
<div class=" bottom">
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||
|
||
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||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
||
|
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0002876%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0002876%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0002876%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS224120" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20dyserythropoietic%20anemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d381d484f3725e593fd9cd">Congenital dyserythropoietic anemia</a>
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