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<meta name="keywords" content="C1839167, finding, intermittent thrombocytopenia, thrombocytopenia, intermittent, 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="Reduced platelet count that occurs sporadically, i.e., it comes and goes." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Intermittent thrombocytopenia (Concept Id: C1839167)
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<!--
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||
UID=374151
|
||
ConceptID=C1839167
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intermittent thrombocytopenia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374151</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:">C1839167</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Thrombocytopenia, intermittent</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:0004854">HP:0004854</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Reduced platelet count that occurs sporadically, i.e., it comes and goes. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Intermittent thrombocytopenia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/57492" ref="tree=MeSH" title="MedGen record for Abnormality of thrombocytes">Abnormality of thrombocytes</a></span><ul><li><span class="TLline"><a href="/medgen/488945" ref="tree=MeSH" title="MedGen record for Abnormal platelet morphology">Abnormal platelet morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488925" ref="tree=MeSH" title="MedGen record for Abnormal platelet count">Abnormal platelet count</a></span><ul><li><span class="TLline"><a href="/medgen/52737" ref="tree=MeSH" title="MedGen record for Thrombocytopenia">Thrombocytopenia</a></span><ul><li><span class="matched_ds">Intermittent thrombocytopenia</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_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_78795"><div><strong>Lazy leukocyte syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78795</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.">C0272174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections. Organisms usually include bacteria such as pneumococcus, Staphylococcus, and H. influenzae, but severe viral infections, including varicella, may also occur. Laboratory investigations may show neutropenia, neutrophilia, leukocytosis, or lymphopenia, although levels of immune cells may also be normal. Detailed studies often show impaired neutrophil chemotaxis associated with increased or abnormal F-actin levels, and impaired, normal, or even increased oxidative burst, depending on the stimulus. B- and T-cell abnormalities have also been observed. Some patients develop autoimmune manifestations, including chronic thrombocytopenia, anemia, and periodic fevers, associated with activation of the inflammasome. Early death may occur; however, hematopoietic stem cell transplantation may be curative (summary by Kuhns et al., 2016, Standing et al., 2017, and Pfajfer et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_226914"><div><strong>Pseudo von Willebrand disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226914</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.">C1280798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type von Willebrand disease (VWDP), also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation (Murata et al., 1993). Miller (1996) gave a comprehensive review of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/226914">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326416"><div><strong>Thrombocytopenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326416</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.">C1839163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326416">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414066"><div><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414066</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799556"><div><strong>TFRC-related combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799556</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.">C5568133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799556">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lazy leukocyte syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo von Willebrand disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799556" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">TFRC-related combined immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 1</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/8298143">Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ribba AS,
|
||
Christophe O,
|
||
Derlon A,
|
||
Cherel G,
|
||
Siguret V,
|
||
Lavergne JM,
|
||
Girma JP,
|
||
Meyer D,
|
||
Pietu G</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1994 Feb 1;83(3):833-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8298143" target="_blank">8298143</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22intermittent%20thrombocytopenia%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 (1)</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/33096268">Hematopoietic Stem Cell Transplantation Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whangbo JS,
|
||
Chou J,
|
||
Al-Dhekri H,
|
||
Harris M,
|
||
Geha RS,
|
||
Pai SY,
|
||
Al-Herz W</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2021 Feb;9(2):753-759.e2.
|
||
Epub 2020 Oct 20
|
||
doi: 10.1016/j.jaip.2020.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33096268" target="_blank">33096268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33259599">Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKinney C,
|
||
Ellison M,
|
||
Briones NJ,
|
||
Baroffio A,
|
||
Murphy J,
|
||
Tran AD,
|
||
Reisz JA,
|
||
D'Alessandro A,
|
||
Ambruso DR</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2020 Dec 8;4(23):5888-5901.
|
||
doi: 10.1182/bloodadvances.2020002225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33259599" target="_blank">33259599</a><a href="/pmc/articles/PMC7724913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18043243">Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notarangelo LD,
|
||
Miao CH,
|
||
Ochs HD</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2008 Jan;15(1):30-6.
|
||
doi: 10.1097/MOH.0b013e3282f30448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18043243" target="_blank">18043243</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12586974">Thrombocytopenia after immunization of Canadian children, 1992 to 2001.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jadavji T,
|
||
Scheifele D,
|
||
Halperin S;
|
||
Canadian Paediatric Society/Health Cananda Immunization Monitoring Program</span><br />
|
||
<span class="medgenPMjournal">Pediatr Infect Dis J</span>
|
||
2003 Feb;22(2):119-22.
|
||
doi: 10.1097/01.inf.0000048961.08486.d1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12586974" target="_blank">12586974</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermittent%20thrombocytopenia%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35299292">A case of atypical hemolytic uremic syndrome presenting intermittent thrombocytopenia and hemolysis with fatal acute coronary syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HJ,
|
||
Hong YH</span><br />
|
||
<span class="medgenPMjournal">Korean J Intern Med</span>
|
||
2022 Jul;37(4):879-880.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3904/kjim.2021.388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35299292" target="_blank">35299292</a><a href="/pmc/articles/PMC9271714" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24105461">A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alangari AA,
|
||
Alsultan A,
|
||
Osman ME,
|
||
Anazi S,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2013 Nov;33(8):1403-6.
|
||
Epub 2013 Oct 9
|
||
doi: 10.1007/s10875-013-9945-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24105461" target="_blank">24105461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23758768">A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banka S,
|
||
Newman WG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2013 Jun 13;8:84.
|
||
doi: 10.1186/1750-1172-8-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23758768" target="_blank">23758768</a><a href="/pmc/articles/PMC3718741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15928485">Structure and function of the Wiskott-Aldrich syndrome protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochs HD,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2005 Jul;12(4):284-91.
|
||
doi: 10.1097/01.moh.0000168520.98990.19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15928485" target="_blank">15928485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2816998">Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Haeringen A,
|
||
Veenstra F,
|
||
Maaswinkel-Mooij PD,
|
||
van de Kamp JJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1989 Oct;34(2):202-6.
|
||
doi: 10.1002/ajmg.1320340214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2816998" target="_blank">2816998</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermittent%20thrombocytopenia%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39938091">VITT-like Monoclonal Gammopathy of Thrombotic Significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang JJ,
|
||
Warkentin TE,
|
||
Schönborn L,
|
||
Wheeler MB,
|
||
Geerts WH,
|
||
Costedoat-Chalumeau N,
|
||
Gendron N,
|
||
Ene G,
|
||
Lozano M,
|
||
Langer F,
|
||
Lindhoff-Last E,
|
||
Budde K,
|
||
Chataway T,
|
||
Troelnikov A,
|
||
Sheppard JI,
|
||
Zhang Y,
|
||
Arnold DM,
|
||
Gordon TP,
|
||
Thiele T,
|
||
Greinacher A,
|
||
Nazy I</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2025 Mar 6;392(10):995-1005.
|
||
Epub 2025 Feb 12
|
||
doi: 10.1056/NEJMoa2415930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39938091" target="_blank">39938091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33259599">Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKinney C,
|
||
Ellison M,
|
||
Briones NJ,
|
||
Baroffio A,
|
||
Murphy J,
|
||
Tran AD,
|
||
Reisz JA,
|
||
D'Alessandro A,
|
||
Ambruso DR</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2020 Dec 8;4(23):5888-5901.
|
||
doi: 10.1182/bloodadvances.2020002225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33259599" target="_blank">33259599</a><a href="/pmc/articles/PMC7724913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27571123">Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glasser CL,
|
||
Picoraro JA,
|
||
Jain P,
|
||
Kinberg S,
|
||
Rustia E,
|
||
Gross Margolis K,
|
||
Anyane-Yeboa K,
|
||
Iglesias AD,
|
||
Green NS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2016 Oct;38(7):e243-7.
|
||
doi: 10.1097/MPH.0000000000000660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27571123" target="_blank">27571123</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9788553">Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urban M,
|
||
Opitz C,
|
||
Bommer C,
|
||
Enders H,
|
||
Tinschert S,
|
||
Witkowski R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Sep 23;79(3):155-60.
|
||
doi: 10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9788553" target="_blank">9788553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4167520">Von Willebrand's disease associated with intermittent thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nielsen EG,
|
||
Svejgaard A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1967 Nov 4;2(7523):966-8.
|
||
doi: 10.1016/s0140-6736(67)90798-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4167520" target="_blank">4167520</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermittent%20thrombocytopenia%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33096268">Hematopoietic Stem Cell Transplantation Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whangbo JS,
|
||
Chou J,
|
||
Al-Dhekri H,
|
||
Harris M,
|
||
Geha RS,
|
||
Pai SY,
|
||
Al-Herz W</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2021 Feb;9(2):753-759.e2.
|
||
Epub 2020 Oct 20
|
||
doi: 10.1016/j.jaip.2020.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33096268" target="_blank">33096268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24115682">Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wada T,
|
||
Itoh M,
|
||
Maeba H,
|
||
Toma T,
|
||
Niida Y,
|
||
Saikawa Y,
|
||
Yachie A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2014 Apr;61(4):746-8.
|
||
Epub 2013 Sep 21
|
||
doi: 10.1002/pbc.24787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24115682" target="_blank">24115682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15928485">Structure and function of the Wiskott-Aldrich syndrome protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochs HD,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2005 Jul;12(4):284-91.
|
||
doi: 10.1097/01.moh.0000168520.98990.19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15928485" target="_blank">15928485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12586974">Thrombocytopenia after immunization of Canadian children, 1992 to 2001.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jadavji T,
|
||
Scheifele D,
|
||
Halperin S;
|
||
Canadian Paediatric Society/Health Cananda Immunization Monitoring Program</span><br />
|
||
<span class="medgenPMjournal">Pediatr Infect Dis J</span>
|
||
2003 Feb;22(2):119-22.
|
||
doi: 10.1097/01.inf.0000048961.08486.d1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12586974" target="_blank">12586974</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermittent%20thrombocytopenia%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39938091">VITT-like Monoclonal Gammopathy of Thrombotic Significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang JJ,
|
||
Warkentin TE,
|
||
Schönborn L,
|
||
Wheeler MB,
|
||
Geerts WH,
|
||
Costedoat-Chalumeau N,
|
||
Gendron N,
|
||
Ene G,
|
||
Lozano M,
|
||
Langer F,
|
||
Lindhoff-Last E,
|
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Budde K,
|
||
Chataway T,
|
||
Troelnikov A,
|
||
Sheppard JI,
|
||
Zhang Y,
|
||
Arnold DM,
|
||
Gordon TP,
|
||
Thiele T,
|
||
Greinacher A,
|
||
Nazy I</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2025 Mar 6;392(10):995-1005.
|
||
Epub 2025 Feb 12
|
||
doi: 10.1056/NEJMoa2415930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39938091" target="_blank">39938091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26808373">A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaymak Cihan M,
|
||
Bolat F,
|
||
Onay H,
|
||
Sari A,
|
||
Ünver Korğali E,
|
||
Aslan Ş,
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||
Cura C,
|
||
İçağasioğlu D</span><br />
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<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2016 May;38(4):324-8.
|
||
doi: 10.1097/MPH.0000000000000504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26808373" target="_blank">26808373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15928485">Structure and function of the Wiskott-Aldrich syndrome protein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochs HD,
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||
Notarangelo LD</span><br />
|
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<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2005 Jul;12(4):284-91.
|
||
doi: 10.1097/01.moh.0000168520.98990.19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15928485" target="_blank">15928485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9788553">Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urban M,
|
||
Opitz C,
|
||
Bommer C,
|
||
Enders H,
|
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Tinschert S,
|
||
Witkowski R</span><br />
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<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Sep 23;79(3):155-60.
|
||
doi: 10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9788553" target="_blank">9788553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8547607">Shear stress-induced platelet aggregation in various types of von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakagawa-Nishimura Y,
|
||
Sugimoto M,
|
||
Tsuji S,
|
||
Kuwahara M,
|
||
Nishio K,
|
||
Takahashi Y,
|
||
Fujimura Y,
|
||
Murata M,
|
||
Handa M,
|
||
Ikeda Y</span><br />
|
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<span class="medgenPMjournal">Int J Hematol</span>
|
||
1995 Jun;61(4):189-96.
|
||
doi: 10.1016/0925-5710(95)00367-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8547607" target="_blank">8547607</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermittent%20thrombocytopenia%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 (7)</a></div></div>
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