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<meta name="keywords" content="C0040015, bdplt2, bleeding disorder, platelet-type, 2, deficiency of gp 2b 3a complex, diacyclothrombopathia 2b 3a, disease or syndrome, glanzmann thrombasthenia, glanzmann thrombasthenia 1, glanzmann thrombasthenia type a, glanzmann thrombasthenia, type a, glanzmann thromboasthenia, glanzmann's disease, glanzmann's syndrome, glanzmann's thrombasthenia, glanzmann-naegeli disorder, glycoprotein complex iib iiia, deficiency of, glycoprotein complex iib-iiia deficiency, glycoprotein complex iib-iiia, deficiency of, gp iib iiia complex, deficiency of, gp iib-iiia complex deficiency, gp iib-iiia complex, deficiency of, gt, gt1, hereditary hemorrhagic thrombasthenia, hereditary thromboasthenia, platelet fibrinogen receptor deficiency, platelet fibrinogen receptor, deficiency of, platelet glycoprotein 2b 3a deficiency, platelet glycoprotein 2b-3a deficiency, platelet glycoprotein iib iiia deficiency, platelet glycoprotein iib-iiia deficiency, thrombasthenia, thrombasthenia of glanzmann and naegeli, thrombasthenia of glanzmann and naegeli, itga2b-related, thrombasthenia of glanzmann and naegeli, itgb3-related, thrombasthenia, glanzmann, thrombasthenias, 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="Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=52736
|
||
ConceptID=C0040015
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glanzmann thrombasthenia<span class="h1sub">(GT; BDPLT2; GT1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52736</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:">C0040015</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BLEEDING DISORDER, PLATELET-TYPE, 2; Diacyclothrombopathia 2B 3A; Glanzmann thrombasthenia type A; Glanzmann's thrombasthenia; PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia; THROMBASTHENIA OF GLANZMANN AND NAEGELI; Thrombasthenia of Glanzmann and Naegeli, ITGA2B-Related; Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary hemorrhagic thrombasthenia (32942005); Glanzmann's syndrome (32942005); Glanzmann's thrombasthenia (32942005); Glanzmann's disease (32942005); Hereditary thromboasthenia (32942005); Glanzmann thromboasthenia (32942005); Glanzmann-Naegeli disorder (32942005); Thrombasthenia (32942005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100326" target="_blank">MONDO:0100326</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/273800" target="_blank">273800</a>; <a href="https://omim.org/entry/607759" target="_blank">607759</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS273800" target="_blank">PS273800</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=849">ORPHA849</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.<br /><br />About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).<br /><br />The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_6775"><div><strong>Subdural hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6775</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.">C0018946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage occurring between the dura mater and the arachnoid mater.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6775">Feature record</a> | <a href="/medgen?term=%22Subdural%20hemorrhage%22%5BClinical%20Features%5D%20OR%206775%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101799"><div><strong>Intracranial hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101799</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.">C0151699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage occurring within the skull.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101799">Feature record</a> | <a href="/medgen?term=%22Intracranial%20hemorrhage%22%5BClinical%20Features%5D%20OR%20101799%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8971"><div><strong>Gastrointestinal hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8971</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.">C0017181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage affecting the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8971">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20hemorrhage%22%5BClinical%20Features%5D%20OR%208971%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_42218"><div><strong>Gingival bleeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42218</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.">C0017565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage affecting the gingiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42218">Feature record</a> | <a href="/medgen?term=%22Gingival%20bleeding%22%5BClinical%20Features%5D%20OR%2042218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44358"><div><strong>Menorrhagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44358</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.">C0025323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44358">Feature record</a> | <a href="/medgen?term=%22Menorrhagia%22%5BClinical%20Features%5D%20OR%2044358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56231"><div><strong>Prolonged bleeding time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56231</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.">C0151529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56231">Feature record</a> | <a href="/medgen?term=%22Prolonged%20bleeding%20time%22%5BClinical%20Features%5D%20OR%2056231%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488925"><div><strong>Abnormal platelet count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488925</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.">C0580317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488925">Feature record</a> | <a href="/medgen?term=%22Abnormal%20platelet%20count%22%5BClinical%20Features%5D%20OR%20488925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383786"><div><strong>Impaired platelet aggregation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383786</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.">C1855853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383786">Feature record</a> | <a href="/medgen?term=%22Impaired%20platelet%20aggregation%22%5BClinical%20Features%5D%20OR%20383786%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892761"><div><strong>Decreased platelet glycoprotein IIb-IIIa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892761</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.">C4021767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased cell membrane concentration of glycoprotein IIb-IIIa.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892761">Feature record</a> | <a href="/medgen?term=%22Decreased%20platelet%20glycoprotein%20IIb-IIIa%22%5BClinical%20Features%5D%20OR%20892761%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868218"><div><strong>Excessive bleeding from superficial cuts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868218</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.">C4022610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868218">Feature record</a> | <a href="/medgen?term=%22Excessive%20bleeding%20from%20superficial%20cuts%22%5BClinical%20Features%5D%20OR%20868218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868749"><div><strong>Impaired ristocetin-induced platelet aggregation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868749</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.">C4023154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868749">Feature record</a> | <a href="/medgen?term=%22Impaired%20ristocetin-induced%20platelet%20aggregation%22%5BClinical%20Features%5D%20OR%20868749%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870264"><div><strong>Impaired collagen-induced platelet aggregation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870264</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.">C4024703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870264">Feature record</a> | <a href="/medgen?term=%22Impaired%20collagen-induced%20platelet%20aggregation%22%5BClinical%20Features%5D%20OR%20870264%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870285"><div><strong>Impaired epinephrine-induced platelet aggregation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870285</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.">C4024727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870285">Feature record</a> | <a href="/medgen?term=%22Impaired%20epinephrine-induced%20platelet%20aggregation%22%5BClinical%20Features%5D%20OR%20870285%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870824"><div><strong>Impaired ADP-induced platelet aggregation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870824</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.">C4025282</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870824">Feature record</a> | <a href="/medgen?term=%22Impaired%20ADP-induced%20platelet%20aggregation%22%5BClinical%20Features%5D%20OR%20870824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1376447"><div><strong>Impaired clot retraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1376447</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.">C4476985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1376447">Feature record</a> | <a href="/medgen?term=%22Impaired%20clot%20retraction%22%5BClinical%20Features%5D%20OR%201376447%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8524"><div><strong>Ecchymosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8524</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.">C0013491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A purpuric lesion that is larger than 1 cm in diameter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8524">Feature record</a> | <a href="/medgen?term=%22Ecchymosis%22%5BClinical%20Features%5D%20OR%208524%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19584"><div><strong>Purpura</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19584</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.">C0034150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Purpura (from Latin</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19584">Feature record</a> | <a href="/medgen?term=%22Purpura%22%5BClinical%20Features%5D%20OR%2019584%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_488925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal platelet count</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased platelet glycoprotein IIb-IIIa</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_868218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Excessive bleeding from superficial cuts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival bleeding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired ADP-induced platelet aggregation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1376447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired clot retraction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired collagen-induced platelet aggregation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired epinephrine-induced platelet aggregation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired platelet aggregation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired ristocetin-induced platelet aggregation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Menorrhagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged bleeding time</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intracranial hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subdural hemorrhage</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal hemorrhage</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_8524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ecchymosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purpura</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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0040015[DISCUI]&test_type=Clinical" ref="ncbi_uid=52736">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=52736" target="_blank" href="/omim/273800">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=52736" ref="ncbi_uid=52736">V</a></span></span><span class="TLline">Glanzmann thrombasthenia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/208860" ref="tree=MeSH" title="MedGen record for Hematopoietic and Lymphatic System Disorder">Hematopoietic and Lymphatic System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5483" ref="tree=MeSH" title="MedGen record for Hematologic disorder">Hematologic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6799" ref="tree=MeSH" title="MedGen record for Hemorrhagic disease">Hemorrhagic disease</a></span><ul><li><span class="matched_ds">Glanzmann thrombasthenia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3382&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Glanzmann thrombasthenia</span> in Orphanet.</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/35218677">Anti-platelet treatment challenges in Glanzmann thrombasthenia-clinical practice when data lacks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scafa-Udriște A,
|
||
Popa-Fotea NM,
|
||
Calmac L,
|
||
Onciul S,
|
||
Bataila V,
|
||
Mihai C,
|
||
Ploscaru V,
|
||
Uscatescu V,
|
||
Gherghe G,
|
||
Grigore I,
|
||
Dorobanțu M,
|
||
Micheu MM</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2022 Jul;28(4):e98-e100.
|
||
Epub 2022 Feb 26
|
||
doi: 10.1111/hae.14527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35218677" target="_blank">35218677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22781097">Clinical utility gene card for: Glanzmann thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiore M,
|
||
Nurden AT,
|
||
Nurden P,
|
||
Seligsohn U</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Oct;20(10)
|
||
Epub 2012 Jul 11
|
||
doi: 10.1038/ejhg.2012.151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22781097" target="_blank">22781097</a><a href="/pmc/articles/PMC3449071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3366002">Prevention program of type I Glanzmann thrombasthenia in Israel: prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seligsohn U,
|
||
Mibashan RS,
|
||
Rodeck CH,
|
||
Nicolaides KH,
|
||
Millar DS,
|
||
Coller BS</span><br />
|
||
<span class="medgenPMjournal">Curr Stud Hematol Blood Transfus</span>
|
||
1988;(55):174-9.
|
||
doi: 10.1159/000415440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3366002" target="_blank">3366002</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glanzmann%20thrombasthenia%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 (23)</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/23868573">Indication for allogeneic stem cell transplantation in Glanzmann's thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegering V,
|
||
Sauer K,
|
||
Winkler B,
|
||
Eyrich M,
|
||
Schlegel PG</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2013;33(4):305-12.
|
||
Epub 2013 Jul 18
|
||
doi: 10.5482/HAMO-12-08-0014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23868573" target="_blank">23868573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22970800">Pattern of bleeding and response to therapy in Glanzmann thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borhany M,
|
||
Fatima H,
|
||
Naz A,
|
||
Patel H,
|
||
Shamsi T</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2012 Nov;18(6):e423-5.
|
||
Epub 2012 Sep 13
|
||
doi: 10.1111/hae.12017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22970800" target="_blank">22970800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19141164">Platelet function defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simon D,
|
||
Kunicki T,
|
||
Nugent D</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2008 Nov;14(6):1240-9.
|
||
doi: 10.1111/j.1365-2516.2008.01898.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19141164" target="_blank">19141164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13679645">Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seligsohn U</span><br />
|
||
<span class="medgenPMjournal">Pathophysiol Haemost Thromb</span>
|
||
2002 Sep-Dec;32(5-6):216-7.
|
||
doi: 10.1159/000073569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13679645" target="_blank">13679645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12163005">Molecular basis of Glanzmann's Thrombasthenia and current strategies in treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellucci S,
|
||
Caen J</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2002 Sep;16(3):193-202.
|
||
doi: 10.1016/s0268-960x(02)00030-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12163005" target="_blank">12163005</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glanzmann%20thrombasthenia%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 (81)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32139434">Glanzmann thrombasthenia: genetic basis and clinical correlates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Botero JP,
|
||
Lee K,
|
||
Branchford BR,
|
||
Bray PF,
|
||
Freson K,
|
||
Lambert MP,
|
||
Luo M,
|
||
Mohan S,
|
||
Ross JE,
|
||
Bergmeier W,
|
||
Di Paola J;
|
||
ClinGen Platelet Disorder Variant Curation Expert Panel</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2020 Apr;105(4):888-894.
|
||
Epub 2020 Mar 5
|
||
doi: 10.3324/haematol.2018.214239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32139434" target="_blank">32139434</a><a href="/pmc/articles/PMC7109743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25707719">Inherited platelet disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sandrock-Lang K,
|
||
Wentzell R,
|
||
Santoso S,
|
||
Zieger B</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2016 Aug 3;36(3):178-86.
|
||
Epub 2015 Feb 24
|
||
doi: 10.5482/HAMO-14-11-0067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25707719" target="_blank">25707719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19854165">Glanzmann thrombasthenia: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franchini M,
|
||
Favaloro EJ,
|
||
Lippi G</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2010 Jan;411(1-2):1-6.
|
||
Epub 2009 Oct 23
|
||
doi: 10.1016/j.cca.2009.10.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19854165" target="_blank">19854165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19408195">Glycoprotein analysis for the diagnostic evaluation of platelet disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller JL</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2009 Mar;35(2):224-32.
|
||
Epub 2009 Apr 30
|
||
doi: 10.1055/s-0029-1220330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19408195" target="_blank">19408195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16722529">Glanzmann thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nurden AT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Apr 6;1:10.
|
||
doi: 10.1186/1750-1172-1-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16722529" target="_blank">16722529</a><a href="/pmc/articles/PMC1475837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glanzmann%20thrombasthenia%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 (145)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39196196">A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gandhi PS,
|
||
Zivkovic M,
|
||
Østergaard H,
|
||
Bonde AC,
|
||
Elm T,
|
||
Løvgreen MN,
|
||
Schluckebier G,
|
||
Johansson E,
|
||
Olsen OH,
|
||
Olsen EHN,
|
||
de Bus IA,
|
||
Bloem K,
|
||
Alskär O,
|
||
Rea CJ,
|
||
Bjørn SE,
|
||
Schutgens RE,
|
||
Sørensen B,
|
||
Urbanus RT,
|
||
Faber JH</span><br />
|
||
<span class="medgenPMjournal">Nat Cardiovasc Res</span>
|
||
2024 Feb;3(2):166-185.
|
||
Epub 2024 Feb 8
|
||
doi: 10.1038/s44161-023-00418-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39196196" target="_blank">39196196</a><a href="/pmc/articles/PMC11358003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22970800">Pattern of bleeding and response to therapy in Glanzmann thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borhany M,
|
||
Fatima H,
|
||
Naz A,
|
||
Patel H,
|
||
Shamsi T</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2012 Nov;18(6):e423-5.
|
||
Epub 2012 Sep 13
|
||
doi: 10.1111/hae.12017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22970800" target="_blank">22970800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16722529">Glanzmann thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nurden AT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Apr 6;1:10.
|
||
doi: 10.1186/1750-1172-1-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16722529" target="_blank">16722529</a><a href="/pmc/articles/PMC1475837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13679645">Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seligsohn U</span><br />
|
||
<span class="medgenPMjournal">Pathophysiol Haemost Thromb</span>
|
||
2002 Sep-Dec;32(5-6):216-7.
|
||
doi: 10.1159/000073569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13679645" target="_blank">13679645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12214146">Treatment of bleeding in patients with platelet disorders: is there a place for recombinant factor VIIa?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurian Y</span><br />
|
||
<span class="medgenPMjournal">Pathophysiol Haemost Thromb</span>
|
||
2002;32 Suppl 1:37-40.
|
||
doi: 10.1159/000057300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12214146" target="_blank">12214146</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glanzmann%20thrombasthenia%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 (90)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31693514">Successful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friend BD,
|
||
Roach GD,
|
||
Kempert PH,
|
||
Moore TB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2020 Aug;42(6):e521-e526.
|
||
doi: 10.1097/MPH.0000000000001646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693514" target="_blank">31693514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26149024">Inherited disorders of platelet function: selected updates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nurden AT,
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2015 Jun;13 Suppl 1:S2-9.
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<span class="bold">PMID: </span><a href="/pubmed/26149024" target="_blank">26149024</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25899604">Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Civaschi E,
|
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Klersy C,
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Melazzini F,
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Pujol-Moix N,
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Santoro C,
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Cattaneo M,
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Lavenu-Bombled C,
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Bury L,
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Minuz P,
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Nurden P,
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Cid AR,
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Cuker A,
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Latger-Cannard V,
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Favier R,
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Nichele I,
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Noris P;
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European Haematology Association - Scientific Working Group on Thrombocytopenias and Platelet Function Disorders</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
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2015 Aug;170(4):559-63.
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Epub 2015 Apr 21
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<span class="bold">PMID: </span><a href="/pubmed/25899604" target="_blank">25899604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23868573">Indication for allogeneic stem cell transplantation in Glanzmann's thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiegering V,
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Sauer K,
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Winkler B,
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2013;33(4):305-12.
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Epub 2013 Jul 18
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<span class="bold">PMID: </span><a href="/pubmed/23868573" target="_blank">23868573</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16722529">Glanzmann thrombasthenia.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Nurden AT</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2006 Apr 6;1:10.
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<span class="bold">PMID: </span><a href="/pubmed/16722529" target="_blank">16722529</a><a href="/pmc/articles/PMC1475837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glanzmann%20thrombasthenia%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 (50)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26149024">Inherited disorders of platelet function: selected updates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nurden AT,
|
||
Nurden P</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2015 Jun;13 Suppl 1:S2-9.
|
||
doi: 10.1111/jth.12898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26149024" target="_blank">26149024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25899604">Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Civaschi E,
|
||
Klersy C,
|
||
Melazzini F,
|
||
Pujol-Moix N,
|
||
Santoro C,
|
||
Cattaneo M,
|
||
Lavenu-Bombled C,
|
||
Bury L,
|
||
Minuz P,
|
||
Nurden P,
|
||
Cid AR,
|
||
Cuker A,
|
||
Latger-Cannard V,
|
||
Favier R,
|
||
Nichele I,
|
||
Noris P;
|
||
European Haematology Association - Scientific Working Group on Thrombocytopenias and Platelet Function Disorders</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2015 Aug;170(4):559-63.
|
||
Epub 2015 Apr 21
|
||
doi: 10.1111/bjh.13458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25899604" target="_blank">25899604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24967889">Platelet membrane glycoproteins: a historical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nurden AT</span><br />
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<span class="medgenPMjournal">Semin Thromb Hemost</span>
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2014 Jul;40(5):577-84.
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Epub 2014 Jun 26
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doi: 10.1055/s-0034-1383826.
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<span class="bold">PMID: </span><a href="/pubmed/24967889" target="_blank">24967889</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13679645">Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seligsohn U</span><br />
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||
<span class="medgenPMjournal">Pathophysiol Haemost Thromb</span>
|
||
2002 Sep-Dec;32(5-6):216-7.
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doi: 10.1159/000073569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13679645" target="_blank">13679645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1951315">Nutritional zinc increases platelet reactivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marx G,
|
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Krugliak J,
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Shaklai M</span><br />
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<span class="medgenPMjournal">Am J Hematol</span>
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1991 Nov;38(3):161-5.
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doi: 10.1002/ajh.2830380302.
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<span class="bold">PMID: </span><a href="/pubmed/1951315" target="_blank">1951315</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glanzmann%20thrombasthenia%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 (88)</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/39604156">Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saultier P,
|
||
Grino M,
|
||
Falaise C,
|
||
Voisin S,
|
||
Lavenu-Bombled C,
|
||
Ibrahim-Kosta M,
|
||
Petit A,
|
||
Boutroux H,
|
||
Desprez D,
|
||
Fiore M,
|
||
d'Oiron R,
|
||
Alessi MC</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2025 Jan;31(1):7-15.
|
||
Epub 2024 Nov 27
|
||
doi: 10.1111/hae.15130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39604156" target="_blank">39604156</a><a href="/pmc/articles/PMC11780185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34369869">Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bacci M,
|
||
Ferretti A,
|
||
Marchetti M,
|
||
Alberelli MA,
|
||
Falanga A,
|
||
Lodigiani C,
|
||
De Candia E</span><br />
|
||
<span class="medgenPMjournal">Blood Transfus</span>
|
||
2022 Sep;20(5):420-432.
|
||
Epub 2022 Jan 8
|
||
doi: 10.2450/2021.0119-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34369869" target="_blank">34369869</a><a href="/pmc/articles/PMC9480966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32004416">Menstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Punt MC,
|
||
Schuitema PCE,
|
||
Bloemenkamp KWM,
|
||
Kremer Hovinga ICL,
|
||
van Galen KPM</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2020 Mar;26(2):216-227.
|
||
Epub 2020 Jan 31
|
||
doi: 10.1111/hae.13927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32004416" target="_blank">32004416</a><a href="/pmc/articles/PMC7155109" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21457404">A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siddiq S,
|
||
Clark A,
|
||
Mumford A</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2011 Sep;17(5):e858-69.
|
||
Epub 2011 Apr 4
|
||
doi: 10.1111/j.1365-2516.2011.02516.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21457404" target="_blank">21457404</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glanzmann%20thrombasthenia%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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||
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||
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|
||
|
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|
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|
||
<div class="supplemental col three_col last">
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||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0040015%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C0040015%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0040015%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (47)</a></li>
|
||
<li><a href="/gtr/tests?term=C0040015%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (12)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0040015%5bDISCUI%5d" target="_blank">See all (51)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS273800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=849" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glanzmann%20thrombasthenia" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22glanzmann%20thrombasthenia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Thrombasthenia+of+Glanzmann+and+Naegeli/7074" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/glanzmann_thrombasthenia_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Glanzmann%20thrombasthenia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2478/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Glanzmann%20thrombasthenia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
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||
<a href="/pubmed?term=Glanzmann%20thrombasthenia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
|
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<h3>Related information</h3>
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