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<meta name="keywords" content="C1845837, disease or syndrome, dyserythropoietic anemia and thrombocytopenia, dyserythropoietic anemia with thrombocytopenia, gata 1 related cytopenia, gata 1 related x linked cytopenia, gata binding protein 1 related thrombocytopenia with dyserythropoiesis, gata1, gata1-related cytopenia, gata1-related x-linked cytopenia, x linked macrothrombocytopenia, x-linked macrothrombocytopenia, 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=335283
|
||
ConceptID=C1845837
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">GATA binding protein 1 related thrombocytopenia with dyserythropoiesis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335283</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.">C1845837</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>GATA1-Related X-Linked Cytopenia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>GATA 1 related cytopenia (713388002); X linked macrothrombocytopenia (713388002); GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (713388002); GATA 1 related X linked cytopenia (713388002); Dyserythropoietic anemia and thrombocytopenia (713388002)</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:0100089" target="_blank">MONDO:0100089</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>
|
||
<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">
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||
<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">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/14691578">Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balduini CL,
|
||
Pecci A,
|
||
Loffredo G,
|
||
Izzo P,
|
||
Noris P,
|
||
Grosso M,
|
||
Bergamaschi G,
|
||
Rosti V,
|
||
Magrini U,
|
||
Ceresa IF,
|
||
Conti V,
|
||
Poggi V,
|
||
Savoia A</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2004 Jan;91(1):129-40.
|
||
doi: 10.1160/TH03-05-0290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14691578" target="_blank">14691578</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GATA%20binding%20protein%201%20related%20thrombocytopenia%20with%20dyserythropoiesis%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 (1)</a></div></div>
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||
</div>
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||
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||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
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||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
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||
<div class="portlet mgSection" id="ID_113">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1845837%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845837%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845837%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C1845837%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1845837%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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||
</ul></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=GATA%20binding%20protein%201%20related%20thrombocytopenia%20with%20dyserythropoiesis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
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