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<meta name="keywords" content="C1260899, aase syndrome, aase-smith ii syndrome, anaemia congenital erythroid hypoplastic, anaemia diamond blackfan type, anemia congenital erythroid hypoplastic, anemia diamond blackfan type, anemia, blackfan diamond, anemia, congenital hypoplastic, of blackfan and diamond, anemia, diamond blackfan, anemia, diamond blackfan type, anemia, diamond-blackfan, anemia, diamond-blackfan type, anemia, hypoplastic congenital, anemias, hypoplastic congenital, aregenerative anaemia chronic congenital, aregenerative anemia chronic congenital, bds, blackfan - diamond syndrome, blackfan diamond anemia, blackfan diamond disease, blackfan diamond syndrome, blackfan-diamond anaemia, blackfan-diamond anemia, blackfan-diamond disease, blackfan-diamond syndrome, chronic congenital agenerative anemia, chronic constitutional pure red cell anaemia, chronic constitutional pure red cell anemia, chronic constitutional pure red cell aplasia, congenital anemia, hypoplastic, congenital anemias, hypoplastic, congenital dyserythropoietic anaemia, congenital dyserythropoietic anemia, congenital erythroid hypoplastic anemia, congenital hypoplastic anaemia, congenital hypoplastic anemia, congenital hypoplastic anemia of blackfan and diamond, congenital hypoplastic anemia, blackfan-diamond type, congenital prca, congenital pure red cell anemia, congenital pure red cell aplasia, congenital red cell aplasia, dba, diamond anemia, blackfan, diamond blackfan anemia, diamond-blackfan anemia, diamond-blackfan type anemia, disease or syndrome, disease, blackfan-diamond, erythroblastopenia, inherited, erythroblastopenias, inherited, erythrogenesis imperfecta, erythrogenesis imperfectas, hypoplastic congenital anemia, hypoplastic congenital anemias, imperfecta, erythrogenesis, imperfectas, erythrogenesis, inherited erythroblastopenia, inherited erythroblastopenias, pure hereditary red cell aplasia, red cell aplasia, pure hereditary, red cell aplasia, pure, hereditary, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=266045
|
||
ConceptID=C1260899
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Diamond-Blackfan anemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266045</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:">C1260899</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>Aase syndrome; Aregenerative anemia chronic congenital; Blackfan Diamond syndrome; Congenital hypoplastic anemia; Red cell aplasia, pure hereditary</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Chronic constitutional pure red cell aplasia (88854002); Chronic constitutional pure red cell anemia (88854002); Congenital hypoplastic anemia (88854002); Congenital pure red cell anemia (88854002); Erythrogenesis imperfecta (88854002); Congenital red cell aplasia (88854002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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="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></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/90121">TSR2</a>, <a target="_blank" href="/gene/11224">RPL35</a>, <a target="_blank" href="/gene/6235">RPS29</a>, <a target="_blank" href="/gene/6234">RPS28</a>, <a target="_blank" href="/gene/6232">RPS27</a>, <a target="_blank" href="/gene/6231">RPS26</a>, <a target="_blank" href="/gene/6229">RPS24</a>, <a target="_blank" href="/gene/6223">RPS19</a>, <a target="_blank" href="/gene/6218">RPS17</a>, <a target="_blank" href="/gene/6210">RPS15A</a>, <a target="_blank" href="/gene/6204">RPS10</a>, <a target="_blank" href="/gene/6201">RPS7</a>, <a target="_blank" href="/gene/6165">RPL35A</a>, <a target="_blank" href="/gene/6155">RPL27</a>, <a target="_blank" href="/gene/6154">RPL26</a>, <a target="_blank" href="/gene/6141">RPL18</a>, <a target="_blank" href="/gene/6138">RPL15</a>, <a target="_blank" href="/gene/6135">RPL11</a>, <a target="_blank" href="/gene/6125">RPL5</a></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:0004810">HP:0004810</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015253" target="_blank">MONDO:0015253</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS105650" target="_blank">PS105650</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=124">ORPHA124</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK7047" target="_blank">Diamond-Blackfan Anemia</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Summary" target="NBK7047">Summary</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Diagnosis" target="NBK7047">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Clinical_Characteristics" target="NBK7047">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Genetically_Related_Allelic_Di" target="NBK7047">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Differential_Diagnosis" target="NBK7047">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Management" target="NBK7047">Management</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Genetic_Counseling" target="NBK7047">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Resources" target="NBK7047">Resources</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Molecular_Genetics" target="NBK7047">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.Chapter_Notes" target="NBK7047">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK7047#diamond-b.References" target="NBK7047">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Colin Sieff <a href="/books/NBK7047" target="NBK7047" title="NCBI Bookshelf: Diamond-Blackfan Anemia">view full author information</a></div></div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body.<br /><br />The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).<br /><br />People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally. Individuals with Diamond-Blackfan anemia also have an increased risk of developing a bone marrow cancer known as acute myeloid leukemia (AML), a type of bone cancer called osteosarcoma, and other cancers.<br /><br />Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades that are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slow growth leading to short stature.<br /><br />Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias).<br /><br />The severity of Diamond-Blackfan anemia may vary, even within the same family. Increasingly, individuals with "non-classical" Diamond-Blackfan anemia have been identified. This form of the disorder typically has less severe symptoms. For example, some affected individuals have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. <a target="_blank" href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia">https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia</a></div></div>
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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><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=C1260899[DISCUI]&test_type=Clinical" ref="ncbi_uid=266045">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=266045">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=266045" ref="ncbi_uid=266045">V</a></span></span><span class="TLline">Diamond-Blackfan 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=C2676137[DISCUI]&test_type=Clinical" ref="ncbi_uid=390966">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390966" target="_blank" href="/omim/105650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=390966">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390966" ref="ncbi_uid=390966">V</a></span></span><span class="TLline"><a href="/medgen/390966" ref="tree=GTR&ncbi_uid=390966&link_uid=390966" title="View MedGen record for 'Diamond-Blackfan anemia 1'">Diamond-Blackfan anemia 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344104" target="_blank" href="/omim/606129">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=344104">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/344104" ref="tree=GTR&ncbi_uid=344104&link_uid=344104" title="View MedGen record for 'Diamond-Blackfan anemia 2'">Diamond-Blackfan anemia 2</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=C1857719[DISCUI]&test_type=Clinical" ref="ncbi_uid=387892">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387892" target="_blank" href="/omim/602412">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=387892">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387892" ref="ncbi_uid=387892">V</a></span></span><span class="TLline"><a href="/medgen/387892" ref="tree=GTR&ncbi_uid=387892&link_uid=387892" title="View MedGen record for 'Diamond-Blackfan anemia 3'">Diamond-Blackfan anemia 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675860[DISCUI]&test_type=Clinical" ref="ncbi_uid=393906">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393906" target="_blank" href="/omim/180472">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=393906">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393906" ref="ncbi_uid=393906">V</a></span></span><span class="TLline"><a href="/medgen/393906" ref="tree=GTR&ncbi_uid=393906&link_uid=393906" title="View MedGen record for 'Diamond-Blackfan anemia 4'">Diamond-Blackfan anemia 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=C2675859[DISCUI]&test_type=Clinical" ref="ncbi_uid=382705">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382705" target="_blank" href="/omim/180468">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=382705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382705" ref="ncbi_uid=382705">V</a></span></span><span class="TLline"><a href="/medgen/382705" ref="tree=GTR&ncbi_uid=382705&link_uid=382705" title="View MedGen record for 'Diamond-Blackfan anemia 5'">Diamond-Blackfan anemia 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931850[DISCUI]&test_type=Clinical" ref="ncbi_uid=419918">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419918" target="_blank" href="/omim/603634">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=419918">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419918" ref="ncbi_uid=419918">V</a></span></span><span class="TLline"><a href="/medgen/419918" ref="tree=GTR&ncbi_uid=419918&link_uid=419918" title="View MedGen record for 'Diamond-Blackfan anemia 6'">Diamond-Blackfan anemia 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675512[DISCUI]&test_type=Clinical" ref="ncbi_uid=436451">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436451" target="_blank" href="/omim/604175">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=436451">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436451" ref="ncbi_uid=436451">V</a></span></span><span class="TLline"><a href="/medgen/436451" ref="tree=GTR&ncbi_uid=436451&link_uid=436451" title="View MedGen record for 'Diamond-Blackfan anemia 7'">Diamond-Blackfan anemia 7</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=C2675511[DISCUI]&test_type=Clinical" ref="ncbi_uid=390817">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390817" target="_blank" href="/omim/603658">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=390817">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390817" ref="ncbi_uid=390817">V</a></span></span><span class="TLline"><a href="/medgen/390817" ref="tree=GTR&ncbi_uid=390817&link_uid=390817" title="View MedGen record for 'Diamond-Blackfan anemia 8'">Diamond-Blackfan anemia 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750081[DISCUI]&test_type=Clinical" ref="ncbi_uid=412874">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412874" target="_blank" href="/omim/603632">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=412874">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412874" ref="ncbi_uid=412874">V</a></span></span><span class="TLline"><a href="/medgen/412874" ref="tree=GTR&ncbi_uid=412874&link_uid=412874" title="View MedGen record for 'Diamond-Blackfan anemia 9'">Diamond-Blackfan anemia 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750080[DISCUI]&test_type=Clinical" ref="ncbi_uid=412873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412873" target="_blank" href="/omim/603701">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=412873">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412873" ref="ncbi_uid=412873">V</a></span></span><span class="TLline"><a href="/medgen/412873" ref="tree=GTR&ncbi_uid=412873&link_uid=412873" title="View MedGen record for 'Diamond-Blackfan anemia 10'">Diamond-Blackfan anemia 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554042[DISCUI]&test_type=Clinical" ref="ncbi_uid=766956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766956" target="_blank" href="/omim/603704">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=766956">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766956" ref="ncbi_uid=766956">V</a></span></span><span class="TLline"><a href="/medgen/766956" ref="tree=GTR&ncbi_uid=766956&link_uid=766956" title="View MedGen record for 'Diamond-Blackfan anemia 11'">Diamond-Blackfan anemia 11</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=C3809888[DISCUI]&test_type=Clinical" ref="ncbi_uid=816218">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816218" target="_blank" href="/omim/604174">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=816218">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816218" ref="ncbi_uid=816218">V</a></span></span><span class="TLline"><a href="/medgen/816218" ref="tree=GTR&ncbi_uid=816218&link_uid=816218" title="View MedGen record for 'Diamond-Blackfan anemia 12'">Diamond-Blackfan anemia 12</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=C4014641[DISCUI]&test_type=Clinical" ref="ncbi_uid=863078">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863078" target="_blank" href="/omim/603633">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=863078">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863078" ref="ncbi_uid=863078">V</a></span></span><span class="TLline"><a href="/medgen/863078" ref="tree=GTR&ncbi_uid=863078&link_uid=863078" title="View MedGen record for 'Diamond-Blackfan anemia 13'">Diamond-Blackfan anemia 13</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=C4225422[DISCUI]&test_type=Clinical" ref="ncbi_uid=895657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=895657" target="_blank" href="/omim/300945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=895657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=895657" ref="ncbi_uid=895657">V</a></span></span><span class="TLline"><a href="/medgen/895657" ref="tree=GTR&ncbi_uid=895657&link_uid=895657" title="View MedGen record for 'Diamond-Blackfan anemia 14 with mandibulofacial dysostosis'">Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</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=C4225411[DISCUI]&test_type=Clinical" ref="ncbi_uid=902755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=902755" target="_blank" href="/omim/603685">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=902755">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=902755" ref="ncbi_uid=902755">V</a></span></span><span class="TLline"><a href="/medgen/902755" ref="tree=GTR&ncbi_uid=902755&link_uid=902755" title="View MedGen record for 'Diamond-Blackfan anemia 15 with mandibulofacial dysostosis'">Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</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=C4479424[DISCUI]&test_type=Clinical" ref="ncbi_uid=1385861">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1385861" target="_blank" href="/omim/607526">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=1385861" ref="ncbi_uid=1385861">V</a></span></span><span class="TLline"><a href="/medgen/1385861" ref="tree=GTR&ncbi_uid=1385861&link_uid=1385861" title="View MedGen record for 'Diamond-Blackfan anemia 16'">Diamond-Blackfan anemia 16</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=C4479428[DISCUI]&test_type=Clinical" ref="ncbi_uid=1373199">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1373199" target="_blank" href="/omim/603702">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=1373199" ref="ncbi_uid=1373199">V</a></span></span><span class="TLline"><a href="/medgen/1373199" ref="tree=GTR&ncbi_uid=1373199&link_uid=1373199" title="View MedGen record for 'Diamond-Blackfan anemia 17'">Diamond-Blackfan anemia 17</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=C5193020[DISCUI]&test_type=Clinical" ref="ncbi_uid=1681154">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1681154" target="_blank" href="/omim/604179">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=1681154">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1681154" ref="ncbi_uid=1681154">V</a></span></span><span class="TLline"><a href="/medgen/1681154" ref="tree=GTR&ncbi_uid=1681154&link_uid=1681154" title="View MedGen record for 'Diamond-Blackfan anemia 18'">Diamond-Blackfan anemia 18</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=C5193021[DISCUI]&test_type=Clinical" ref="ncbi_uid=1683070">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1683070" target="_blank" href="/omim/618312">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=1683070">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1683070" ref="ncbi_uid=1683070">V</a></span></span><span class="TLline"><a href="/medgen/1683070" ref="tree=GTR&ncbi_uid=1683070&link_uid=1683070" title="View MedGen record for 'Diamond-Blackfan anemia 19'">Diamond-Blackfan anemia 19</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=C5193022[DISCUI]&test_type=Clinical" ref="ncbi_uid=1674961">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1674961" target="_blank" href="/omim/603674">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7047/" ref="ncbi_uid=1674961">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1674961" ref="ncbi_uid=1674961">V</a></span></span><span class="TLline"><a href="/medgen/1674961" ref="tree=GTR&ncbi_uid=1674961&link_uid=1674961" title="View MedGen record for 'Diamond-Blackfan anemia 20'">Diamond-Blackfan anemia 20</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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/208860" ref="tree=MeSH" title="MedGen record for Hematopoietic and Lymphatic System Disorder">Hematopoietic and Lymphatic System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5483" ref="tree=MeSH" title="MedGen record for Hematologic disorder">Hematologic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/276575" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder">Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/760584" ref="tree=MeSH" title="MedGen record for Congenital hematological disorder">Congenital hematological disorder</a></span><ul><li><span class="matched_ds">Diamond-Blackfan anemia</span><ul><li><span class="TLline"><a href="/medgen/390966" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 1">Diamond-Blackfan anemia 1</a></span></li><li><span class="TLline"><a href="/medgen/344104" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 2">Diamond-Blackfan anemia 2</a></span></li><li><span class="TLline"><a href="/medgen/387892" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 3">Diamond-Blackfan anemia 3</a></span></li><li><span class="TLline"><a href="/medgen/393906" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 4">Diamond-Blackfan anemia 4</a></span></li><li><span class="TLline"><a href="/medgen/382705" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 5">Diamond-Blackfan anemia 5</a></span></li><li><span class="TLline"><a href="/medgen/419918" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 6">Diamond-Blackfan anemia 6</a></span></li><li><span class="TLline"><a href="/medgen/436451" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 7">Diamond-Blackfan anemia 7</a></span></li><li><span class="TLline"><a href="/medgen/390817" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 8">Diamond-Blackfan anemia 8</a></span></li><li><span class="TLline"><a href="/medgen/412874" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 9">Diamond-Blackfan anemia 9</a></span></li><li><span class="TLline"><a href="/medgen/412873" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 10">Diamond-Blackfan anemia 10</a></span></li><li><span class="TLline"><a href="/medgen/766956" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 11">Diamond-Blackfan anemia 11</a></span></li><li><span class="TLline"><a href="/medgen/816218" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 12">Diamond-Blackfan anemia 12</a></span></li><li><span class="TLline"><a href="/medgen/863078" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 13">Diamond-Blackfan anemia 13</a></span></li><li><span class="TLline"><a href="/medgen/895657" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 14 with mandibulofacial dysostosis">Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/902755" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 15 with mandibulofacial dysostosis">Diamond-Blackfan anemia 15 with mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/1385861" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 16">Diamond-Blackfan anemia 16</a></span></li><li><span class="TLline"><a href="/medgen/1373199" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 17">Diamond-Blackfan anemia 17</a></span></li><li><span class="TLline"><a href="/medgen/1681154" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 18">Diamond-Blackfan anemia 18</a></span></li><li><span class="TLline"><a href="/medgen/1683070" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 19">Diamond-Blackfan anemia 19</a></span></li><li><span class="TLline"><a href="/medgen/1674961" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia 20">Diamond-Blackfan anemia 20</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=429&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Diamond-Blackfan anemia</span> in Orphanet.</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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_67398"><div><strong>Metaphyseal chondrodysplasia, McKusick type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67398</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.">C0220748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67398">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390966"><div><strong>Diamond-Blackfan anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390966</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.">C2676137</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/390966">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794177"><div><strong>DEGCAGS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794177</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.">C5561967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801596"><div><strong>Congenital dyserythropoietic anemia, type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801596</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.">C5676874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by Lind et al., 1995; Liljeholm et al., 2013). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801596">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital dyserythropoietic anemia, type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DEGCAGS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, McKusick type</a></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/29885000">Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gansner JM,
|
||
Furutani E,
|
||
Campagna DR,
|
||
Fleming MD,
|
||
Shimamura A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2018 Sep;93(9):1194-1195.
|
||
Epub 2018 Sep 6
|
||
doi: 10.1002/ajh.25155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29885000" target="_blank">29885000</a><a href="/pmc/articles/PMC6168377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23463023">Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlachos A,
|
||
Dahl N,
|
||
Dianzani I,
|
||
Lipton JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Oct;21(10)
|
||
Epub 2013 Mar 6
|
||
doi: 10.1038/ejhg.2013.34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23463023" target="_blank">23463023</a><a href="/pmc/articles/PMC3778360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21248735">Clinical utility gene card for: Diamond Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlachos A,
|
||
Dahl N,
|
||
Dianzani I,
|
||
Lipton JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 May;19(5)
|
||
Epub 2011 Jan 19
|
||
doi: 10.1038/ejhg.2010.247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21248735" target="_blank">21248735</a><a href="/pmc/articles/PMC3083626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22diamond-blackfan%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 (28)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21248735">Clinical utility gene card for: Diamond Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlachos A,
|
||
Dahl N,
|
||
Dianzani I,
|
||
Lipton JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 May;19(5)
|
||
Epub 2011 Jan 19
|
||
doi: 10.1038/ejhg.2010.247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21248735" target="_blank">21248735</a><a href="/pmc/articles/PMC3083626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/37897121">Probable digenic inheritance of Diamond-Blackfan anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furuta Y,
|
||
Tinker RJ,
|
||
Gulsevin A,
|
||
Neumann SM,
|
||
Hamid R,
|
||
Cogan JD,
|
||
Rives L,
|
||
Liu Q,
|
||
Chen HC,
|
||
Joos KM,
|
||
Phillips JA 3rd;
|
||
Undiagnosed Diseases Network</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Mar;194(3):e63454.
|
||
Epub 2023 Oct 27
|
||
doi: 10.1002/ajmg.a.63454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37897121" target="_blank">37897121</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/30503522">The Genetic Landscape of Diamond-Blackfan Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulirsch JC,
|
||
Verboon JM,
|
||
Kazerounian S,
|
||
Guo MH,
|
||
Yuan D,
|
||
Ludwig LS,
|
||
Handsaker RE,
|
||
Abdulhay NJ,
|
||
Fiorini C,
|
||
Genovese G,
|
||
Lim ET,
|
||
Cheng A,
|
||
Cummings BB,
|
||
Chao KR,
|
||
Beggs AH,
|
||
Genetti CA,
|
||
Sieff CA,
|
||
Newburger PE,
|
||
Niewiadomska E,
|
||
Matysiak M,
|
||
Vlachos A,
|
||
Lipton JM,
|
||
Atsidaftos E,
|
||
Glader B,
|
||
Narla A,
|
||
Gleizes PE,
|
||
O'Donohue MF,
|
||
Montel-Lehry N,
|
||
Amor DJ,
|
||
McCarroll SA,
|
||
O'Donnell-Luria AH,
|
||
Gupta N,
|
||
Gabriel SB,
|
||
MacArthur DG,
|
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Lander ES,
|
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Lek M,
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Da Costa L,
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Nathan DG,
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Korostelev AA,
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<div class="portlet_content ln"><span class="medgenPMauthor">Ellis SR,
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Marie I,
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/32702755">Diamond-Blackfan anemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Da Costa L,
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Verboon JM,
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Ludwig LS,
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Handsaker RE,
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Abdulhay NJ,
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Fiorini C,
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Genovese G,
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Lim ET,
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Cheng A,
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Cummings BB,
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Chao KR,
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Beggs AH,
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Genetti CA,
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Sieff CA,
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Newburger PE,
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Niewiadomska E,
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Matysiak M,
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Vlachos A,
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Lipton JM,
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Atsidaftos E,
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Glader B,
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Narla A,
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Gleizes PE,
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O'Donohue MF,
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Montel-Lehry N,
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Amor DJ,
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McCarroll SA,
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O'Donnell-Luria AH,
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Gupta N,
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Gabriel SB,
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MacArthur DG,
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Lander ES,
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Lek M,
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Da Costa L,
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Nathan DG,
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Korostelev AA,
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Do R,
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Sankaran VG,
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Gazda HT</span><br />
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2018 Dec 6;103(6):930-947.
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<div class="nl"><a target="_blank" href="/pubmed/14573927">Molecular diagnosis of Diamond-Blackfan anemia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32702755">Diamond-Blackfan anemia.</a></div>
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Leblanc T,
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Mohandas N</span><br />
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Verboon JM,
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Handsaker RE,
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Fiorini C,
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Cheng A,
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Chao KR,
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Beggs AH,
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Newburger PE,
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Matysiak M,
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Vlachos A,
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Lipton JM,
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Atsidaftos E,
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Glader B,
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Narla A,
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Gleizes PE,
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O'Donohue MF,
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Montel-Lehry N,
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Amor DJ,
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McCarroll SA,
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O'Donnell-Luria AH,
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Gupta N,
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Gabriel SB,
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MacArthur DG,
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Lander ES,
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Lek M,
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Da Costa L,
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Nathan DG,
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Korostelev AA,
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Do R,
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Sankaran VG,
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Gazda HT</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/23252420">Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.</a></div>
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Kratz CP,
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Giri N,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%20anemia%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 (56)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Mohandas N,
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David-NGuyen L,
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Platon J,
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Marie I,
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O'Donohue MF,
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<div class="nl"><a target="_blank" href="/pubmed/35583751">Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hiregange DG,
|
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Rivalta A,
|
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Yonath A,
|
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Zimmerman E,
|
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Bashan A,
|
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Yonath H</span><br />
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<span class="medgenPMjournal">FEBS Open Bio</span>
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<span class="bold">PMID: </span><a href="/pubmed/35583751" target="_blank">35583751</a><a href="/pmc/articles/PMC9249338" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30503522">The Genetic Landscape of Diamond-Blackfan Anemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ulirsch JC,
|
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Verboon JM,
|
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Kazerounian S,
|
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Guo MH,
|
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Yuan D,
|
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Ludwig LS,
|
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Handsaker RE,
|
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Abdulhay NJ,
|
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Fiorini C,
|
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Genovese G,
|
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Lim ET,
|
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Cheng A,
|
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Cummings BB,
|
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Chao KR,
|
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Beggs AH,
|
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Genetti CA,
|
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Sieff CA,
|
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Newburger PE,
|
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Niewiadomska E,
|
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Matysiak M,
|
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Vlachos A,
|
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Lipton JM,
|
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Atsidaftos E,
|
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Glader B,
|
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Narla A,
|
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Gleizes PE,
|
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O'Donohue MF,
|
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Montel-Lehry N,
|
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Amor DJ,
|
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McCarroll SA,
|
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O'Donnell-Luria AH,
|
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Gupta N,
|
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Gabriel SB,
|
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MacArthur DG,
|
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Lander ES,
|
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Lek M,
|
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Da Costa L,
|
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Nathan DG,
|
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Korostelev AA,
|
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Do R,
|
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Sankaran VG,
|
||
Gazda HT</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
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2018 Dec 6;103(6):930-947.
|
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Epub 2018 Nov 29
|
||
doi: 10.1016/j.ajhg.2018.10.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30503522" target="_blank">30503522</a><a href="/pmc/articles/PMC6288280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24835311">Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aspesi A,
|
||
Pavesi E,
|
||
Robotti E,
|
||
Crescitelli R,
|
||
Boria I,
|
||
Avondo F,
|
||
Moniz H,
|
||
Da Costa L,
|
||
Mohandas N,
|
||
Roncaglia P,
|
||
Ramenghi U,
|
||
Ronchi A,
|
||
Gustincich S,
|
||
Merlin S,
|
||
Marengo E,
|
||
Ellis SR,
|
||
Follenzi A,
|
||
Santoro C,
|
||
Dianzani I</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2014 Jul 25;545(2):282-9.
|
||
Epub 2014 May 15
|
||
doi: 10.1016/j.gene.2014.04.077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24835311" target="_blank">24835311</a><a href="/pmc/articles/PMC4058751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16493623">Diamond-Blackfan anemia associated with beta-thalassemia trait.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavil B,
|
||
Cetin M,
|
||
Kuşkonmaz B,
|
||
Gümrük F</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2006 Mar;81(3):214-5.
|
||
doi: 10.1002/ajh.20530.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16493623" target="_blank">16493623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Diamond-Blackfan%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 (91)</a></div></div>
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