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<meta name="keywords" content="C3550789, disease or syndrome, gata1, thrombocytopenia, x-linked, with or without dyserythropoietic anemia, thrombocytopenia, x-linked, with or without dyserythropoietic anemia, x-linked recessive, x-linked thrombocytopenia, with or without dyserythropoietic anaemia, x-linked thrombocytopenia, with or without dyserythropoietic anemia, xltda, 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="GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. One or more of the following may also be present: neutropenia, splenomegaly, cryptorchidism, hypospadias, and rarely additional clinical features of Diamond-Blackfan anemia. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia. Rarely, GATA1-related cytopenia can progress to myelodysplastic syndrome or aplastic anemia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=763703
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||
ConceptID=C3550789
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia<span class="h1sub">(XLTDA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763703</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.">C3550789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>XLTDA</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GATA1 - ID: 2623 - NCBI Gene" href="/gene/2623" class="medgenPMinfo">GATA1</a> (Xp11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010308" target="_blank">MONDO:0010308</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300367" target="_blank">300367</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">
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||
<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/NBK1364" target="_blank">GATA1-Related Cytopenia</a></div><div>GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. One or more of the following may also be present: neutropenia, splenomegaly, cryptorchidism, hypospadias, and rarely additional clinical features of Diamond-Blackfan anemia. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia. Rarely, GATA1-related cytopenia can progress to myelodysplastic syndrome or aplastic anemia. [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/NBK1364#gata1.Summary" target="NBK1364">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Diagnosis" target="NBK1364">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Clinical_Characteristics" target="NBK1364">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Genetically_Related_Allelic_Disord" target="NBK1364">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Differential_Diagnosis" target="NBK1364">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Management" target="NBK1364">Management</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Genetic_Counseling" target="NBK1364">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Resources" target="NBK1364">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Molecular_Genetics" target="NBK1364">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Chapter_Notes" target="NBK1364">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.References" target="NBK1364">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kaoru Takasaki | Melissa A Kacena | Wendy H Raskind<i>, et. al.</i> <a href="/books/NBK1364" target="NBK1364" title="NCBI Bookshelf: GATA1-Related Cytopenia">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011). <a target="_blank" href="http://www.omim.org/entry/300367">http://www.omim.org/entry/300367</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cells that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia.<br /><br />The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals.<br /><br />Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered. <a target="_blank" href="https://medlineplus.gov/genetics/condition/dyserythropoietic-anemia-and-thrombocytopenia">https://medlineplus.gov/genetics/condition/dyserythropoietic-anemia-and-thrombocytopenia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4996"><div><strong>Epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4996</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.">C0014591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4996">Feature record</a> | <a href="/medgen?term=%22Epistaxis%22%5BClinical%20Features%5D%20OR%204996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67451"><div><strong>Poikilocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67451</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.">C0221281</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormally shaped erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67451">Feature record</a> | <a href="/medgen?term=%22Poikilocytosis%22%5BClinical%20Features%5D%20OR%2067451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124422"><div><strong>Congenital thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124422</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.">C0272278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia with congenital onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124422">Feature record</a> | <a href="/medgen?term=%22Congenital%20thrombocytopenia%22%5BClinical%20Features%5D%20OR%20124422%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_95937"><div><strong>Anemia of inadequate production</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95937</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0392708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of anemia characterized by inadequate production of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95937">Feature record</a> | <a href="/medgen?term=%22Anemia%20of%20inadequate%20production%22%5BClinical%20Features%5D%20OR%2095937%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195801"><div><strong>Acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195801</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.">C0687751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195801">Feature record</a> | <a href="/medgen?term=%22Acanthocytosis%22%5BClinical%20Features%5D%20OR%20195801%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375403"><div><strong>Persistent bleeding after trauma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375403</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.">C1844374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375403">Feature record</a> | <a href="/medgen?term=%22Persistent%20bleeding%20after%20trauma%22%5BClinical%20Features%5D%20OR%20375403%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10680"><div><strong>Petechiae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10680</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.">C0031256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10680">Feature record</a> | <a href="/medgen?term=%22Petechiae%22%5BClinical%20Features%5D%20OR%2010680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acanthocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_95937" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia of inadequate production</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital thrombocytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epistaxis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent bleeding after trauma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikilocytosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Petechiae</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002876[DISCUI]&test_type=Clinical" ref="ncbi_uid=8064">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=8064" ref="ncbi_uid=8064">V</a></span></span><span class="TLline"><a href="/medgen/8064" ref="tree=GTR&ncbi_uid=8064&link_uid=8064" title="View MedGen record for 'Congenital dyserythropoietic anemia'">Congenital dyserythropoietic anemia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150926[DISCUI]&test_type=Clinical" ref="ncbi_uid=462276">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3150926[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462276">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462276" target="_blank" href="/omim/600599">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462276" ref="ncbi_uid=462276">V</a></span></span><span class="TLline"><a href="/medgen/462276" ref="tree=GTR&ncbi_uid=462276&link_uid=462276" title="View MedGen record for 'Congenital dyserythropoietic anemia type 4'">Congenital dyserythropoietic anemia type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271933[DISCUI]&test_type=Clinical" ref="ncbi_uid=82891">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0271933[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=82891">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82891" target="_blank" href="/omim/224120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5313/" ref="ncbi_uid=82891">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82891" ref="ncbi_uid=82891">V</a></span></span><span class="TLline"><a href="/medgen/82891" ref="tree=GTR&ncbi_uid=82891&link_uid=82891" title="View MedGen record for 'Congenital dyserythropoietic anemia, type I'">Congenital dyserythropoietic anemia, type I</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5574667[DISCUI]&test_type=Clinical" ref="ncbi_uid=1807106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1807106" target="_blank" href="/omim/224120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5313/" ref="ncbi_uid=1807106">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1807106" ref="ncbi_uid=1807106">V</a></span></span><span class="TLline"><a href="/medgen/1807106" ref="tree=GTR&ncbi_uid=1807106&link_uid=1807106" title="View MedGen record for 'Anemia, congenital dyserythropoietic, type 1a'">Anemia, congenital dyserythropoietic, type 1a</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810185[DISCUI]&test_type=Clinical" ref="ncbi_uid=816515">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816515" target="_blank" href="/omim/615626">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK5313/" ref="ncbi_uid=816515">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816515" ref="ncbi_uid=816515">V</a></span></span><span class="TLline"><a href="/medgen/816515" ref="tree=GTR&ncbi_uid=816515&link_uid=816515" title="View MedGen record for 'Congenital dyserythropoietic anemia type type 1B'">Congenital dyserythropoietic anemia type type 1B</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1306589[DISCUI]&test_type=Clinical" ref="ncbi_uid=266296">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1306589[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=266296">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=266296" target="_blank" href="/omim/224100">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=266296" ref="ncbi_uid=266296">V</a></span></span><span class="TLline"><a href="/medgen/266296" ref="tree=GTR&ncbi_uid=266296&link_uid=266296" title="View MedGen record for 'Congenital dyserythropoietic anemia, type II'">Congenital dyserythropoietic anemia, type II</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5676874[DISCUI]&test_type=Clinical" ref="ncbi_uid=1801596">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1801596" target="_blank" href="/omim/105600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1801596" ref="ncbi_uid=1801596">V</a></span></span><span class="TLline"><a href="/medgen/1801596" ref="tree=GTR&ncbi_uid=1801596&link_uid=1801596" title="View MedGen record for 'Congenital dyserythropoietic anemia, type III'">Congenital dyserythropoietic anemia, type III</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3550789[DISCUI]&test_type=Clinical" ref="ncbi_uid=763703">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763703" target="_blank" href="/omim/300367">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1364/" ref="ncbi_uid=763703">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=763703" ref="ncbi_uid=763703">V</a></span></span><span class="TLline">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span><ul><li><span class="TLline"><a href="/medgen/8064" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia">Congenital dyserythropoietic anemia</a></span><ul><li><span class="matched_ds">Thrombocytopenia, X-linked, with or without dyserythropoietic anemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37950858">VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koster MJ,
|
||
Lasho TL,
|
||
Olteanu H,
|
||
Reichard KK,
|
||
Mangaonkar A,
|
||
Warrington KJ,
|
||
Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2024 Feb;99(2):284-299.
|
||
Epub 2023 Nov 11
|
||
doi: 10.1002/ajh.27156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37950858" target="_blank">37950858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34932791">Ineffective erythropoiesis and its treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazzola M</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Apr 21;139(16):2460-2470.
|
||
doi: 10.1182/blood.2021011045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34932791" target="_blank">34932791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30225768">Diagnosis and Management of Genetic Iron Overload Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer WC,
|
||
Vishnu P,
|
||
Sanchez W,
|
||
Aqel B,
|
||
Riegert-Johnson D,
|
||
Seaman LAK,
|
||
Bowman AW,
|
||
Rivera CE</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2018 Dec;33(12):2230-2236.
|
||
Epub 2018 Sep 17
|
||
doi: 10.1007/s11606-018-4669-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30225768" target="_blank">30225768</a><a href="/pmc/articles/PMC6258594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(thrombocytopenia%2C%20x-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia)%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 (39)</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/37084382">Spectrum of clonal hematopoiesis in VEXAS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutierrez-Rodrigues F,
|
||
Kusne Y,
|
||
Fernandez J,
|
||
Lasho T,
|
||
Shalhoub R,
|
||
Ma X,
|
||
Alessi H,
|
||
Finke C,
|
||
Koster MJ,
|
||
Mangaonkar A,
|
||
Warrington KJ,
|
||
Begna K,
|
||
Xie Z,
|
||
Ombrello AK,
|
||
Viswanatha D,
|
||
Ferrada M,
|
||
Wilson L,
|
||
Go R,
|
||
Kourelis T,
|
||
Reichard K,
|
||
Olteanu H,
|
||
Darden I,
|
||
Hironaka D,
|
||
Alemu L,
|
||
Kajigaya S,
|
||
Rosenzweig S,
|
||
Calado RT,
|
||
Groarke EM,
|
||
Kastner DL,
|
||
Calvo KR,
|
||
Wu CO,
|
||
Grayson PC,
|
||
Young NS,
|
||
Beck DB,
|
||
Patel BA,
|
||
Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2023 Jul 20;142(3):244-259.
|
||
doi: 10.1182/blood.2022018774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37084382" target="_blank">37084382</a><a href="/pmc/articles/PMC10375269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36692560">Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beck DB,
|
||
Bodian DL,
|
||
Shah V,
|
||
Mirshahi UL,
|
||
Kim J,
|
||
Ding Y,
|
||
Magaziner SJ,
|
||
Strande NT,
|
||
Cantor A,
|
||
Haley JS,
|
||
Cook A,
|
||
Hill W,
|
||
Schwartz AL,
|
||
Grayson PC,
|
||
Ferrada MA,
|
||
Kastner DL,
|
||
Carey DJ,
|
||
Stewart DR</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Jan 24;329(4):318-324.
|
||
doi: 10.1001/jama.2022.24836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692560" target="_blank">36692560</a><a href="/pmc/articles/PMC10408261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32702750">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Sep 10;136(11):1274-1283.
|
||
doi: 10.1182/blood.2019000948.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32702750" target="_blank">32702750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30864154">How I manage patients with Wiskott Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivers E,
|
||
Worth A,
|
||
Thrasher AJ,
|
||
Burns SO</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 May;185(4):647-655.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1111/bjh.15831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30864154" target="_blank">30864154</a><a href="/pmc/articles/PMC7612067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2C%20X-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (219)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38307404">VEXAS syndrome: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khitri MY,
|
||
Hadjadj J,
|
||
Mekinian A,
|
||
Jachiet V</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2024 Jul;91(4):105700.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.jbspin.2024.105700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38307404" target="_blank">38307404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32702750">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Sep 10;136(11):1274-1283.
|
||
doi: 10.1182/blood.2019000948.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32702750" target="_blank">32702750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30864154">How I manage patients with Wiskott Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivers E,
|
||
Worth A,
|
||
Thrasher AJ,
|
||
Burns SO</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 May;185(4):647-655.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1111/bjh.15831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30864154" target="_blank">30864154</a><a href="/pmc/articles/PMC7612067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23527602">Wiskott-Aldrich syndrome: a comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massaad MJ,
|
||
Ramesh N,
|
||
Geha RS</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2013 May;1285:26-43.
|
||
Epub 2013 Mar 25
|
||
doi: 10.1111/nyas.12049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23527602" target="_blank">23527602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2C%20X-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia%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 (384)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33779074">Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrada MA,
|
||
Sikora KA,
|
||
Luo Y,
|
||
Wells KV,
|
||
Patel B,
|
||
Groarke EM,
|
||
Ospina Cardona D,
|
||
Rominger E,
|
||
Hoffmann P,
|
||
Le MT,
|
||
Deng Z,
|
||
Quinn KA,
|
||
Rose E,
|
||
Tsai WL,
|
||
Wigerblad G,
|
||
Goodspeed W,
|
||
Jones A,
|
||
Wilson L,
|
||
Schnappauf O,
|
||
Laird RS,
|
||
Kim J,
|
||
Allen C,
|
||
Sirajuddin A,
|
||
Chen M,
|
||
Gadina M,
|
||
Calvo KR,
|
||
Kaplan MJ,
|
||
Colbert RA,
|
||
Aksentijevich I,
|
||
Young NS,
|
||
Savic S,
|
||
Kastner DL,
|
||
Ombrello AK,
|
||
Beck DB,
|
||
Grayson PC</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheumatol</span>
|
||
2021 Oct;73(10):1886-1895.
|
||
Epub 2021 Aug 31
|
||
doi: 10.1002/art.41743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33779074" target="_blank">33779074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29956472">Thrombopoietin receptor agonists in hereditary thrombocytopenias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodeghiero F,
|
||
Pecci A,
|
||
Balduini CL</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2018 Sep;16(9):1700-1710.
|
||
Epub 2018 Jul 27
|
||
doi: 10.1111/jth.14217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29956472" target="_blank">29956472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28550188">Recommendations regarding splenectomy in hereditary hemolytic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Barcellini W,
|
||
Corcione F,
|
||
Garçon L,
|
||
De Franceschi L,
|
||
Pignata C,
|
||
Graziadei G,
|
||
Pospisilova D,
|
||
Rees DC,
|
||
de Montalembert M,
|
||
Rivella S,
|
||
Gambale A,
|
||
Russo R,
|
||
Ribeiro L,
|
||
Vives-Corrons J,
|
||
Martinez PA,
|
||
Kattamis A,
|
||
Gulbis B,
|
||
Cappellini MD,
|
||
Roberts I,
|
||
Tamary H;
|
||
Working Study Group on Red Cells and Iron of the EHA</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2017 Aug;102(8):1304-1313.
|
||
Epub 2017 May 26
|
||
doi: 10.3324/haematol.2016.161166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28550188" target="_blank">28550188</a><a href="/pmc/articles/PMC5541865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27890235">Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shwin KW,
|
||
Lee CR,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2017 Jan;35(1):21-38.
|
||
doi: 10.1016/j.det.2016.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27890235" target="_blank">27890235</a><a href="/pmc/articles/PMC5147585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6371428">Iron overload.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iancu TC</span><br />
|
||
<span class="medgenPMjournal">Mol Aspects Med</span>
|
||
1983;6(1):1-100.
|
||
doi: 10.1016/0098-2997(83)90004-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6371428" target="_blank">6371428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2C%20X-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia%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 (125)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37084382">Spectrum of clonal hematopoiesis in VEXAS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutierrez-Rodrigues F,
|
||
Kusne Y,
|
||
Fernandez J,
|
||
Lasho T,
|
||
Shalhoub R,
|
||
Ma X,
|
||
Alessi H,
|
||
Finke C,
|
||
Koster MJ,
|
||
Mangaonkar A,
|
||
Warrington KJ,
|
||
Begna K,
|
||
Xie Z,
|
||
Ombrello AK,
|
||
Viswanatha D,
|
||
Ferrada M,
|
||
Wilson L,
|
||
Go R,
|
||
Kourelis T,
|
||
Reichard K,
|
||
Olteanu H,
|
||
Darden I,
|
||
Hironaka D,
|
||
Alemu L,
|
||
Kajigaya S,
|
||
Rosenzweig S,
|
||
Calado RT,
|
||
Groarke EM,
|
||
Kastner DL,
|
||
Calvo KR,
|
||
Wu CO,
|
||
Grayson PC,
|
||
Young NS,
|
||
Beck DB,
|
||
Patel BA,
|
||
Patnaik MM</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2023 Jul 20;142(3):244-259.
|
||
doi: 10.1182/blood.2022018774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37084382" target="_blank">37084382</a><a href="/pmc/articles/PMC10375269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28232030">Phase I trial of low-dose interleukin 2 therapy in patients with Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jyonouchi S,
|
||
Gwafila B,
|
||
Gwalani LA,
|
||
Ahmad M,
|
||
Moertel C,
|
||
Holbert C,
|
||
Kim JY,
|
||
Kobrinsky N,
|
||
Roy-Ghanta S,
|
||
Orange JS</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2017 Jun;179:47-53.
|
||
Epub 2017 Feb 14
|
||
doi: 10.1016/j.clim.2017.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28232030" target="_blank">28232030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21378561">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Russo R,
|
||
Delaunay J</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2011 May;18(3):146-51.
|
||
doi: 10.1097/MOH.0b013e32834521b0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21378561" target="_blank">21378561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20492708">Beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galanello R,
|
||
Origa R</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 May 21;5:11.
|
||
doi: 10.1186/1750-1172-5-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20492708" target="_blank">20492708</a><a href="/pmc/articles/PMC2893117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10698292">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wickramasinghe SN</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2000 Mar;7(2):71-8.
|
||
doi: 10.1097/00062752-200003000-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10698292" target="_blank">10698292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2C%20X-linked%2C%20with%20or%20without%20dyserythropoietic%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 (147)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36692560">Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beck DB,
|
||
Bodian DL,
|
||
Shah V,
|
||
Mirshahi UL,
|
||
Kim J,
|
||
Ding Y,
|
||
Magaziner SJ,
|
||
Strande NT,
|
||
Cantor A,
|
||
Haley JS,
|
||
Cook A,
|
||
Hill W,
|
||
Schwartz AL,
|
||
Grayson PC,
|
||
Ferrada MA,
|
||
Kastner DL,
|
||
Carey DJ,
|
||
Stewart DR</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Jan 24;329(4):318-324.
|
||
doi: 10.1001/jama.2022.24836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692560" target="_blank">36692560</a><a href="/pmc/articles/PMC10408261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33779074">Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrada MA,
|
||
Sikora KA,
|
||
Luo Y,
|
||
Wells KV,
|
||
Patel B,
|
||
Groarke EM,
|
||
Ospina Cardona D,
|
||
Rominger E,
|
||
Hoffmann P,
|
||
Le MT,
|
||
Deng Z,
|
||
Quinn KA,
|
||
Rose E,
|
||
Tsai WL,
|
||
Wigerblad G,
|
||
Goodspeed W,
|
||
Jones A,
|
||
Wilson L,
|
||
Schnappauf O,
|
||
Laird RS,
|
||
Kim J,
|
||
Allen C,
|
||
Sirajuddin A,
|
||
Chen M,
|
||
Gadina M,
|
||
Calvo KR,
|
||
Kaplan MJ,
|
||
Colbert RA,
|
||
Aksentijevich I,
|
||
Young NS,
|
||
Savic S,
|
||
Kastner DL,
|
||
Ombrello AK,
|
||
Beck DB,
|
||
Grayson PC</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheumatol</span>
|
||
2021 Oct;73(10):1886-1895.
|
||
Epub 2021 Aug 31
|
||
doi: 10.1002/art.41743.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33779074" target="_blank">33779074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28232030">Phase I trial of low-dose interleukin 2 therapy in patients with Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jyonouchi S,
|
||
Gwafila B,
|
||
Gwalani LA,
|
||
Ahmad M,
|
||
Moertel C,
|
||
Holbert C,
|
||
Kim JY,
|
||
Kobrinsky N,
|
||
Roy-Ghanta S,
|
||
Orange JS</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2017 Jun;179:47-53.
|
||
Epub 2017 Feb 14
|
||
doi: 10.1016/j.clim.2017.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28232030" target="_blank">28232030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19150496">Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denecke J,
|
||
Marquardt T</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2009 Sep;1792(9):915-20.
|
||
Epub 2008 Dec 25
|
||
doi: 10.1016/j.bbadis.2008.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19150496" target="_blank">19150496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8571938">Congenital dyserythropoietic anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marks PW,
|
||
Mitus AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
1996 Jan;51(1):55-63.
|
||
doi: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8571938" target="_blank">8571938</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2C%20X-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (198)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32234571">Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park JH,
|
||
Lee KH,
|
||
Jeon B,
|
||
Ochs HD,
|
||
Lee JS,
|
||
Gee HY,
|
||
Seo S,
|
||
Geum D,
|
||
Piccirillo CA,
|
||
Eisenhut M,
|
||
van der Vliet HJ,
|
||
Lee JM,
|
||
Kronbichler A,
|
||
Ko Y,
|
||
Shin JI</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2020 Jun;19(6):102526.
|
||
Epub 2020 Mar 29
|
||
doi: 10.1016/j.autrev.2020.102526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32234571" target="_blank">32234571</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2C%20X-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3550789%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C3550789%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3550789%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C3550789%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3550789%5bDISCUI%5d" target="_blank">See all (32)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300367" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Thrombocytopenia,%20X-linked,%20with%20or%20without%20dyserythropoietic%20anemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(thrombocytopenia%2C%20x-linked%2C%20with%20or%20without%20dyserythropoietic%20anemia)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=305371" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2623[geneid]" target="_blank">View GATA1 variations in ClinVar</a></li><li><a href="/nuccore/209977059" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300367" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Thrombocytopenia,%20X-linked,%20with%20or%20without%20dyserythropoietic%20anemia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/dyserythropoietic-anemia-and-thrombocytopenia" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301538" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Thrombocytopenia,%20X-linked,%20with%20or%20without%20dyserythropoietic%20anemia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Thrombocytopenia,%20X-linked,%20with%20or%20without%20dyserythropoietic%20anemia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=763703" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=763703" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3550789[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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