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<meta name="keywords" content="C0542035, disease or syndrome, erythroblastopenia, erythroid hypoplasia, erythroid hypoplasia in the bone marrow, 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="Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=488912
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||
ConceptID=C0542035
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Erythroid hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488912</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0542035</span></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>Erythroblastopenia; Erythroid hypoplasia in the bone marrow</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012133">HP:0012133</a></td></tr>
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</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>
|
||
<div class="portlet_content ln">Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0542035[DISCUI]&test_type=Clinical" ref="ncbi_uid=488912">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=488912" ref="ncbi_uid=488912">V</a></span></span><span class="TLline">Erythroid hypoplasia</span></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/868633" ref="tree=MeSH" title="MedGen record for Abnormal number of erythroid precursors">Abnormal number of erythroid precursors</a></span><ul><li><span class="matched_ds">Erythroid hypoplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_124417"><div><strong>Reticular dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124417</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.">C0272167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_137976"><div><strong>Transcobalamin II deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137976</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.">C0342701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transcobalamin II deficiency (TCN2D) is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_196625"><div><strong>Myelodysplastic syndrome associated with isolated del(5q)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196625</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.">C0740302</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196625">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382705"><div><strong>Diamond-Blackfan anemia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382705</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.">C2675859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393906"><div><strong>Diamond-Blackfan anemia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393906</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.">C2675860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414066"><div><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414066</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.">C2751630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648380"><div><strong>Bone marrow failure syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648380</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.">C4748488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018) For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648380">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681154"><div><strong>Diamond-Blackfan anemia 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681154</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.">C5193020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681154">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683070"><div><strong>Diamond-Blackfan anemia 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683070</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.">C5193021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1674961"><div><strong>Diamond-Blackfan anemia 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674961</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.">C5193022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1674961">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824003"><div><strong>Diamond-Blackfan anemia 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824003</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.">C5774230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824003">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 20</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelodysplastic syndrome associated with isolated del(5q)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticular dysgenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transcobalamin II deficiency</a></div></span></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/21322779">Biology and treatment of the 5q- syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Padron E,
|
||
Komrokji R,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Hematol</span>
|
||
2011 Feb;4(1):61-9.
|
||
doi: 10.1586/ehm.11.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21322779" target="_blank">21322779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17325961">Diamond-Blackfan anemia: clinical features and treatment results in 4 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naithani R,
|
||
Chandra J,
|
||
Narayan S,
|
||
Singh V,
|
||
Dutta AK</span><br />
|
||
<span class="medgenPMjournal">Hematology</span>
|
||
2006 Jun;11(3):193-5.
|
||
doi: 10.1080/10245330600774777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17325961" target="_blank">17325961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3354066">Thymoma: a clinico-pathologic study based on newly developed morphologic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rendina EA,
|
||
Pescarmona EO,
|
||
Venuta F,
|
||
Nardi S,
|
||
De Rosa G,
|
||
Martelli M,
|
||
Ricci C</span><br />
|
||
<span class="medgenPMjournal">Tumori</span>
|
||
1988 Feb 29;74(1):79-84.
|
||
doi: 10.1177/030089168807400114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3354066" target="_blank">3354066</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22erythroid%20hypoplasia%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 (4)</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/34889440">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Da Costa LM,
|
||
Marie I,
|
||
Leblanc TM</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2021 Dec 10;2021(1):353-360.
|
||
doi: 10.1182/hematology.2021000314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889440" target="_blank">34889440</a><a href="/pmc/articles/PMC8791146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698294">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willig TN,
|
||
Gazda H,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):85-94.
|
||
doi: 10.1097/00062752-200003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698294" target="_blank">10698294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10081630">Human parvovirus B19 infection in organ transplant recipients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchand S,
|
||
Tchernia G,
|
||
Hiesse C,
|
||
Tertian G,
|
||
Cartron J,
|
||
Kriaa F,
|
||
Boubenider S,
|
||
Goupy C,
|
||
Lecointe D,
|
||
Charpentier B</span><br />
|
||
<span class="medgenPMjournal">Clin Transplant</span>
|
||
1999 Feb;13(1 Pt 1):17-24.
|
||
doi: 10.1034/j.1399-0012.1999.t01-1-130103.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10081630" target="_blank">10081630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9443046">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krijanovski OI,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
1997 Dec;11(6):1061-77.
|
||
doi: 10.1016/s0889-8588(05)70483-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9443046" target="_blank">9443046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/576254">Prednisone-responsive congenital erythroid hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zito GE,
|
||
Lynch EC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1977 Mar 7;237(10):991-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/576254" target="_blank">576254</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Erythroid%20hypoplasia%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 (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34772624">Pure red cell aplasia accompanied by COVID-19 successfully treated using cyclosporine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamazaki S,
|
||
Naito E,
|
||
Sekiya R,
|
||
Yogi S,
|
||
Komiyama K,
|
||
Miyakawa Y,
|
||
Nagata M</span><br />
|
||
<span class="medgenPMjournal">J Infect Chemother</span>
|
||
2022 Feb;28(2):304-307.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.jiac.2021.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34772624" target="_blank">34772624</a><a href="/pmc/articles/PMC8542443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34889440">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Da Costa LM,
|
||
Marie I,
|
||
Leblanc TM</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2021 Dec 10;2021(1):353-360.
|
||
doi: 10.1182/hematology.2021000314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889440" target="_blank">34889440</a><a href="/pmc/articles/PMC8791146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15896845">Leptospirosis and pancytopenia: two case reports and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefos A,
|
||
Georgiadou SP,
|
||
Gioti C,
|
||
Loukopoulos A,
|
||
Ioannou M,
|
||
Pournaras S,
|
||
Dalekos GN</span><br />
|
||
<span class="medgenPMjournal">J Infect</span>
|
||
2005 Dec;51(5):e277-80.
|
||
doi: 10.1016/j.jinf.2005.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15896845" target="_blank">15896845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698294">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willig TN,
|
||
Gazda H,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):85-94.
|
||
doi: 10.1097/00062752-200003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698294" target="_blank">10698294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9443046">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krijanovski OI,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
1997 Dec;11(6):1061-77.
|
||
doi: 10.1016/s0889-8588(05)70483-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9443046" target="_blank">9443046</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Erythroid%20hypoplasia%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 (60)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34772624">Pure red cell aplasia accompanied by COVID-19 successfully treated using cyclosporine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamazaki S,
|
||
Naito E,
|
||
Sekiya R,
|
||
Yogi S,
|
||
Komiyama K,
|
||
Miyakawa Y,
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Nagata M</span><br />
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<span class="medgenPMjournal">J Infect Chemother</span>
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||
2022 Feb;28(2):304-307.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.jiac.2021.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34772624" target="_blank">34772624</a><a href="/pmc/articles/PMC8542443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15896845">Leptospirosis and pancytopenia: two case reports and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefos A,
|
||
Georgiadou SP,
|
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Gioti C,
|
||
Loukopoulos A,
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Ioannou M,
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Pournaras S,
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Dalekos GN</span><br />
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<span class="medgenPMjournal">J Infect</span>
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2005 Dec;51(5):e277-80.
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doi: 10.1016/j.jinf.2005.03.008.
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||
<span class="bold">PMID: </span><a href="/pubmed/15896845" target="_blank">15896845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7126864">Anemia of spaceflight.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavassoli M</span><br />
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<span class="medgenPMjournal">Blood</span>
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1982 Nov;60(5):1059-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7126864" target="_blank">7126864</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6112274">Toxic epidermal necrolysis, agranulocytosis and erythroid hypoplasia associated with sulphasalazine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddocks JL,
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Slater DN</span><br />
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<span class="medgenPMjournal">J R Soc Med</span>
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1980 Aug;73(8):587-8.
|
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doi: 10.1177/014107688007300811.
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<span class="bold">PMID: </span><a href="/pubmed/6112274" target="_blank">6112274</a><a href="/pmc/articles/PMC1437808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/576254">Prednisone-responsive congenital erythroid hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zito GE,
|
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Lynch EC</span><br />
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<span class="medgenPMjournal">JAMA</span>
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1977 Mar 7;237(10):991-2.
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<span class="bold">PMID: </span><a href="/pubmed/576254" target="_blank">576254</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Erythroid%20hypoplasia%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 (65)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37354804">Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain T,
|
||
Ware AD,
|
||
Dalton WB,
|
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Pasca S,
|
||
Tsai HL,
|
||
Gocke CD,
|
||
Gondek LP,
|
||
Xian RR,
|
||
Borowitz MJ,
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Levis MJ</span><br />
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||
<span class="medgenPMjournal">Leuk Res</span>
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||
2023 Aug;131:107345.
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||
Epub 2023 Jun 21
|
||
doi: 10.1016/j.leukres.2023.107345.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37354804" target="_blank">37354804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21322779">Biology and treatment of the 5q- syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Padron E,
|
||
Komrokji R,
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||
List AF</span><br />
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||
<span class="medgenPMjournal">Expert Rev Hematol</span>
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||
2011 Feb;4(1):61-9.
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doi: 10.1586/ehm.11.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21322779" target="_blank">21322779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14586479">Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giagounidis AA,
|
||
Germing U,
|
||
Haase S,
|
||
Hildebrandt B,
|
||
Schlegelberger B,
|
||
Schoch C,
|
||
Wilkens L,
|
||
Heinsch M,
|
||
Willems H,
|
||
Aivado M,
|
||
Aul C</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2004 Jan;18(1):113-9.
|
||
doi: 10.1038/sj.leu.2403189.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14586479" target="_blank">14586479</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/576254">Prednisone-responsive congenital erythroid hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zito GE,
|
||
Lynch EC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1977 Mar 7;237(10):991-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/576254" target="_blank">576254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5660207">Benign thymoma and erythroid hypoplasia. Thirteen-year "cure" following thymectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaung DT,
|
||
Cech RF,
|
||
Peterson RE</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
1968 Aug;22(2):445-50.
|
||
doi: 10.1002/1097-0142(196808)22:2<445::aid-cncr2820220223>3.0.co;2-r.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5660207" target="_blank">5660207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Erythroid%20hypoplasia%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 (28)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34772624">Pure red cell aplasia accompanied by COVID-19 successfully treated using cyclosporine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamazaki S,
|
||
Naito E,
|
||
Sekiya R,
|
||
Yogi S,
|
||
Komiyama K,
|
||
Miyakawa Y,
|
||
Nagata M</span><br />
|
||
<span class="medgenPMjournal">J Infect Chemother</span>
|
||
2022 Feb;28(2):304-307.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1016/j.jiac.2021.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34772624" target="_blank">34772624</a><a href="/pmc/articles/PMC8542443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698294">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willig TN,
|
||
Gazda H,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):85-94.
|
||
doi: 10.1097/00062752-200003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698294" target="_blank">10698294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9443046">Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krijanovski OI,
|
||
Sieff CA</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
1997 Dec;11(6):1061-77.
|
||
doi: 10.1016/s0889-8588(05)70483-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9443046" target="_blank">9443046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7126864">Anemia of spaceflight.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavassoli M</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1982 Nov;60(5):1059-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7126864" target="_blank">7126864</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7104229">Recurrent thrombocytopenia, erythroid hypoplasia and sideroblastic anaemia associated with hypothermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Brien H,
|
||
Amess JA,
|
||
Mollin DL</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
1982 Jul;51(3):451-6.
|
||
doi: 10.1111/j.1365-2141.1982.tb02802.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7104229" target="_blank">7104229</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Erythroid%20hypoplasia%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 (34)</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>
|
||
|
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<!-- MedGen supplemental column starts here -->
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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_content ln"><ul><li><a href="/gtr/tests?term=C0542035%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0542035%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0542035%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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</ul></div>
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<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://clinicaltrials.gov/search?cond=Erythroid%20hypoplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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|
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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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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22erythroid%20hypoplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Erythroid%20hypoplasia" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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<div class="portlet_head">
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Erythroid%20hypoplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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|
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<li>
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<a href="/pubmed?term=Erythroid%20hypoplasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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|
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<h3>Related information</h3>
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