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<meta name="keywords" content="C1264039, disease or syndrome, hereditary von willebrand disease type 1, type 1 von willebrand disease, type i von willebrand disease, von willebrand disease 1, von willebrand disease type 1, von willebrand disease type i, von willebrand disease, type 1, von willebrand disease, type i, von willebrand's disease 1, von willebrand's disease type 1, vwd type 1, vwd, type 1, vwd1, vwf, 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="Von Willebrand disease (VWD) is characterized by mucocutaneous bleeding and excessive bleeding with trauma and procedures. Individuals with more severe forms of VWD are also at-risk for musculoskeletal bleeding. Mucocutaneous bleeding can include easy bruising, prolonged bleeding from minor wounds, epistaxis, oral cavity bleeding, heavy menstrual bleeding, gastrointestinal bleeding, and bleeding with hemostatic challenges such as dental work, childbirth, and surgery. Bleeding severity can vary widely in VWD, even between affected individuals within the same family. For some with VWD the bleeding phenotype may only become apparent upon hemostatic challenge, while others may have frequent spontaneous bleeding." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=220393
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||
ConceptID=C1264039
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK7014/bin/von-willebrand-Image002.gif" src-large="/books/NBK7014/bin/von-willebrand-Image002.jpg" /></a><br /><a href="/books/NBK7014/figure/von-willebrand.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK7014/bin/von-willebrand-Image003.gif" src-large="/books/NBK7014/bin/von-willebrand-Image003.jpg" /></a><br /><a href="/books/NBK7014/figure/von-willebrand.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK7014/bin/von-willebrand-Image001.gif" src-large="/books/NBK7014/bin/von-willebrand-Image001.jpg" /></a><br /><a href="/books/NBK7014/figure/von-willebrand.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">von Willebrand disease type 1<span class="h1sub">(VWD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220393</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.">C1264039</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>VON WILLEBRAND DISEASE, TYPE I; VWD, TYPE 1; VWD1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>von Willebrand disease type 1 (128106003); Hereditary von Willebrand disease type 1 (128106003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="VWF - ID: 7450 - NCBI Gene" href="/gene/7450" class="medgenPMinfo">VWF</a> (12p13.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008668" target="_blank">MONDO:0008668</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/193400" target="_blank">193400</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=166078">ORPHA166078</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK7014" target="_blank">Von Willebrand Disease</a></div><div>Von Willebrand disease (VWD) is characterized by mucocutaneous bleeding and excessive bleeding with trauma and procedures. Individuals with more severe forms of VWD are also at-risk for musculoskeletal bleeding. Mucocutaneous bleeding can include easy bruising, prolonged bleeding from minor wounds, epistaxis, oral cavity bleeding, heavy menstrual bleeding, gastrointestinal bleeding, and bleeding with hemostatic challenges such as dental work, childbirth, and surgery. Bleeding severity can vary widely in VWD, even between affected individuals within the same family. For some with VWD the bleeding phenotype may only become apparent upon hemostatic challenge, while others may have frequent spontaneous bleeding. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Summary" target="NBK7014">Summary</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.GeneReview_Scope" target="NBK7014">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Diagnosis" target="NBK7014">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Clinical_Characteristics" target="NBK7014">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Genetically_Related_Allel" target="NBK7014">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Differential_Diagnosis" target="NBK7014">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Management" target="NBK7014">Management</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Genetic_Counseling" target="NBK7014">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Resources" target="NBK7014">Resources</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Molecular_Genetics" target="NBK7014">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.Chapter_Notes" target="NBK7014">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK7014#von-willebrand.References" target="NBK7014">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Jill Johnsen <a href="/books/NBK7014" target="NBK7014" title="NCBI Bookshelf: Von Willebrand Disease">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. The disorder results from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; 300841). F8 is mutated in hemophilia A (summary by Goodeve, 2010).
|
||
For a review of the various forms of von Willebrand disease, see Leebeek and Eikenboom (2016).
|
||
Classification of von Willebrand Disease
|
||
The classification of von Willebrand disease has a long and complex history. The current classification is based on that described by Sadler (1994) and updated by Sadler et al. (2006), which delineates 3 main subtypes according to the mutant protein phenotype. An earlier classification developed by a working party of the European Thrombosis Research Organization was provided by Zimmerman and Ruggeri (1983).
|
||
Von Willebrand Disease Type 1
|
||
VWD type 1 is a quantitative partial deficiency of circulating VWF. In this type of VWD, there is a normal ratio of functional VWF activity (VWF:RCo, ristocetin cofactor activity) relative to VWF antigen level (VWF:Ag) (Sadler et al., 2006, Goodeve, 2010). Mannucci (2004) stated that type 1 VWD accounts for 60 to 80% of all VWD cases and is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced to 5 to 30% of normal plasma levels (pathogenic levels of 5 to 30 IU/dL). In an updated consensus statement, Sadler et al. (2006) noted that (1) some cases of VWF type 1 may have subtle abnormal VWF multimer patterns, but still retain normal functional activity, and (2) that loci other than VWF may be responsible for some cases of VWD.
|
||
In reviews, James and Lillicrap (2008) and Lillicrap (2009) stated that the knowledge of the pathogenesis and molecular basis of type 1 VWD is still in its infancy and still evolving. Population studies have indicated that type 1 VWD is a complex genetic trait associated with a variety of genetic and environmental factors, and that additional loci in addition to VWF are likely involved. There is still uncertainty about the pathogenicity of many identified putative VWF variants, and the incomplete penetrance and variable expressivity of type 1 disease contributes to complexity in diagnosis and understanding of disease pathogenesis.
|
||
To study the suggestion that patients with VWF levels below 30 IU/dL be diagnosed with type 1 VWD, whereas patients with signficant bleeding and VWF levels from 30 to 50 IU/dL be diagnosed with low VWF, Atiq et al. (2024) analyzed data sets from 2 national cohort studies: 162 patients with low VWF from the LoVIC study and 403 patients with type 1 VWD from the WiN study. No difference was found in the prevalence of VWF sequence variants; factor VIII activity/VWF:Ag or VWF propeptide/VWF:Ag ratios; or desmopressin responses between low VWF and normalized type 1 VWD patients. Their findings demonstrated that low VWF does not constitute a discrete clinical or pathologic entity; rather, it is part of an age-dependent type 1 VWD evolving phenotype. The authors suggested that their findings have important implications for future VWD classification criteria.
|
||
Von Willebrand Disease Type 2
|
||
VWD type 2 (613554), which accounts for 10 to 30% of cases, is characterized by qualitative abnormalities of VWF; it is further divided into subtypes 2A, 2B, 2M, and 2N. The mutant VWF protein in types 2A, 2B, and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind F8 (Mannucci, 2004; Sadler et al., 2006; Goodeve, 2010).
|
||
Von Willebrand Disease Type 3
|
||
VWD type 3 (277480), which accounts for 1 to 5% of cases, is characterized by a severe quantitative defect of VWF in plasma (less than 1% of normal plasma levels), with low but usually detectable levels of factor VIII (1 to 10% of normal plasma levels). In the rare type 3 disease (1 in 1 million people), symptoms are more frequent and severe (Mannucci, 2004, Sadler et al., 2006). <a target="_blank" href="http://www.omim.org/entry/193400">http://www.omim.org/entry/193400</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1621"><div><strong>Aortic valve stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621</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.">C0003507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a stenosis (narrowing) of the aortic valve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621">Feature record</a> | <a href="/medgen?term=%22Aortic%20valve%20stenosis%22%5BClinical%20Features%5D%20OR%201621%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5479"><div><strong>Joint hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5479</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.">C0018924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage occurring within a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5479">Feature record</a> | <a href="/medgen?term=%22Joint%20hemorrhage%22%5BClinical%20Features%5D%20OR%205479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</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.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163130"><div><strong>Gastrointestinal angiodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163130</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.">C0854242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysplasia affecting the vasculature of the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163130">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20angiodysplasia%22%5BClinical%20Features%5D%20OR%20163130%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_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_488780"><div><strong>Prolonged whole-blood clotting time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488780</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.">C0151563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488780">Feature record</a> | <a href="/medgen?term=%22Prolonged%20whole-blood%20clotting%20time%22%5BClinical%20Features%5D%20OR%20488780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375403"><div><strong>Persistent bleeding after trauma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375403</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375403">Feature record</a> | <a href="/medgen?term=%22Persistent%20bleeding%20after%20trauma%22%5BClinical%20Features%5D%20OR%20375403%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_369536"><div><strong>Prolonged bleeding after dental extraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369536</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.">C1969572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolonged bleeding post dental extraction sufficient to require medical intervention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369536">Feature record</a> | <a href="/medgen?term=%22Prolonged%20bleeding%20after%20dental%20extraction%22%5BClinical%20Features%5D%20OR%20369536%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867284"><div><strong>Prolonged bleeding after surgery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867284</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.">C4021646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bleeding that persists longer than the normal time following a surgical procedure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867284">Feature record</a> | <a href="/medgen?term=%22Prolonged%20bleeding%20after%20surgery%22%5BClinical%20Features%5D%20OR%20867284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893065"><div><strong>Reduced quantity of Von Willebrand factor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893065</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.">C4023022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased quantity of von Willebrand factor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893065">Feature record</a> | <a href="/medgen?term=%22Reduced%20quantity%20of%20Von%20Willebrand%20factor%22%5BClinical%20Features%5D%20OR%20893065%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892907"><div><strong>Reduced factor VIII activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892907</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.">C4025649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892907">Feature record</a> | <a href="/medgen?term=%22Reduced%20factor%20VIII%20activity%22%5BClinical%20Features%5D%20OR%20892907%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_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_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_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_375403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent bleeding after trauma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged bleeding after dental extraction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged bleeding after surgery</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged whole-blood clotting time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced factor VIII activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced quantity of Von Willebrand factor</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_1621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic valve stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal angiodysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0042974[DISCUI]&test_type=Clinical" ref="ncbi_uid=22686">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=22686" ref="ncbi_uid=22686">V</a></span></span><span class="TLline"><a href="/medgen/22686" ref="tree=GTR&ncbi_uid=22686&link_uid=22686" title="View MedGen record for 'von Willebrand disorder'">von Willebrand disorder</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/543999" ref="tree=GTR&ncbi_uid=543999&link_uid=543999" title="View MedGen record for 'Acquired von willebrand syndrome'">Acquired von willebrand syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5703318[DISCUI]&test_type=Clinical" ref="ncbi_uid=1814986">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7014/" ref="ncbi_uid=1814986">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1814986" ref="ncbi_uid=1814986">V</a></span></span><span class="TLline"><a href="/medgen/1814986" ref="tree=GTR&ncbi_uid=1814986&link_uid=1814986" title="View MedGen record for 'Hereditary von Willebrand disease'">Hereditary von Willebrand disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1280798[DISCUI]&test_type=Clinical" ref="ncbi_uid=226914">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=226914" target="_blank" href="/omim/177820">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=226914" ref="ncbi_uid=226914">V</a></span></span><span class="TLline"><a href="/medgen/226914" ref="tree=GTR&ncbi_uid=226914&link_uid=226914" title="View MedGen record for 'Pseudo von Willebrand disease'">Pseudo von Willebrand disease</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1264039[DISCUI]&test_type=Clinical" ref="ncbi_uid=220393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=220393" target="_blank" href="/omim/193400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7014/" ref="ncbi_uid=220393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=220393" ref="ncbi_uid=220393">V</a></span></span><span class="TLline">von Willebrand disease type 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1264040[DISCUI]&test_type=Clinical" ref="ncbi_uid=224736">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=224736" target="_blank" href="/omim/613554">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7014/" ref="ncbi_uid=224736">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=224736" ref="ncbi_uid=224736">V</a></span></span><span class="TLline"><a href="/medgen/224736" ref="tree=GTR&ncbi_uid=224736&link_uid=224736" title="View MedGen record for 'von Willebrand disease type 2'">von Willebrand disease type 2</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1282968[DISCUI]&test_type=Clinical" ref="ncbi_uid=220920">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=220920" target="_blank" href="/omim/613160">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=220920" ref="ncbi_uid=220920">V</a></span></span><span class="TLline"><a href="/medgen/220920" ref="tree=GTR&ncbi_uid=220920&link_uid=220920" title="View MedGen record for 'Von Willebrand disease type 2A'">Von Willebrand disease type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1282971[DISCUI]&test_type=Clinical" ref="ncbi_uid=224831">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=224831" target="_blank" href="/omim/613160">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=224831" ref="ncbi_uid=224831">V</a></span></span><span class="TLline"><a href="/medgen/224831" ref="tree=GTR&ncbi_uid=224831&link_uid=224831" title="View MedGen record for 'Von Willebrand disease type 2B'">Von Willebrand disease type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1282974[DISCUI]&test_type=Clinical" ref="ncbi_uid=266186">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=266186" target="_blank" href="/omim/613160">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=266186" ref="ncbi_uid=266186">V</a></span></span><span class="TLline"><a href="/medgen/266186" ref="tree=GTR&ncbi_uid=266186&link_uid=266186" title="View MedGen record for 'von Willebrand disease type 2M'">von Willebrand disease type 2M</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1282975[DISCUI]&test_type=Clinical" ref="ncbi_uid=266187">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=266187" target="_blank" href="/omim/613160">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=266187" ref="ncbi_uid=266187">V</a></span></span><span class="TLline"><a href="/medgen/266187" ref="tree=GTR&ncbi_uid=266187&link_uid=266187" title="View MedGen record for 'von Willebrand disease type 2N'">von Willebrand disease type 2N</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1264041[DISCUI]&test_type=Clinical" ref="ncbi_uid=266075">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=266075" target="_blank" href="/omim/277480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK7014/" ref="ncbi_uid=266075">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=266075" ref="ncbi_uid=266075">V</a></span></span><span class="TLline"><a href="/medgen/266075" ref="tree=GTR&ncbi_uid=266075&link_uid=266075" title="View MedGen record for 'von Willebrand disease type 3'">von Willebrand disease type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333255" target="_blank" href="/omim/314560">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/333255" ref="tree=GTR&ncbi_uid=333255&link_uid=333255" title="View MedGen record for 'Von Willebrand disease, X-linked form'">Von Willebrand disease, X-linked form</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843004" ref="tree=MeSH" title="MedGen record for Rare hemorrhagic disorder due to a constitutional coagulation factors defect">Rare hemorrhagic disorder due to a constitutional coagulation factors defect</a></span><ul><li><span class="TLline"><a href="/medgen/1814986" ref="tree=MeSH" title="MedGen record for Hereditary von Willebrand disease">Hereditary von Willebrand disease</a></span><ul><li><span class="matched_ds">von Willebrand disease type 1</span></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=17611&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">von Willebrand disease type 1</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/34991167">Risk and Management of Intracerebral Hemorrhage in Patients with Bleeding Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorgalaleh A,
|
||
Farshi Y,
|
||
Haeri K,
|
||
Ghanbari OB,
|
||
Ahmadi A</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2022 Apr;48(3):344-355.
|
||
Epub 2022 Jan 6
|
||
doi: 10.1055/s-0041-1740566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34991167" target="_blank">34991167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23633542">Principles of care for the diagnosis and treatment of von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castaman G,
|
||
Goodeve A,
|
||
Eikenboom J;
|
||
European Group on von Willebrand Disease</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2013 May;98(5):667-74.
|
||
doi: 10.3324/haematol.2012.077263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23633542" target="_blank">23633542</a><a href="/pmc/articles/PMC3640108" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15456481">Slippery criteria for von Willebrand disease type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadler JE</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2004 Oct;2(10):1720-3.
|
||
doi: 10.1111/j.1538-7836.2004.00933.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15456481" target="_blank">15456481</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22von%20willebrand%20disease%20type%201%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 (19)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21206511">Clinical utility gene card for: von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cumming AM,
|
||
Keeney S,
|
||
Jenkins PV,
|
||
Nash MJ,
|
||
O'Donnell JS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 May;19(5)
|
||
Epub 2011 Jan 5
|
||
doi: 10.1038/ejhg.2010.222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21206511" target="_blank">21206511</a><a href="/pmc/articles/PMC3083611" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33556167">von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadler B,
|
||
Christopherson PA,
|
||
Haller G,
|
||
Montgomery RR,
|
||
Di Paola J</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Jun 10;137(23):3277-3283.
|
||
doi: 10.1182/blood.2020009999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33556167" target="_blank">33556167</a><a href="/pmc/articles/PMC8351900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819724">How I treat von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castaman G</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2020 Dec;196:618-625.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1016/j.thromres.2020.07.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819724" target="_blank">32819724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28447419">Controversies in the diagnosis of Type 1 von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowman ML,
|
||
James PD</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2017 May;39 Suppl 1:61-68.
|
||
doi: 10.1111/ijlh.12653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28447419" target="_blank">28447419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21783000">Hemostatic management in pediatric patients with type I von Willebrand disease undergoing oral surgery: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bornert F,
|
||
Clauss F,
|
||
Gros CI,
|
||
Faradji A,
|
||
Schmittbuhl M,
|
||
Manière MC,
|
||
Feki A</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2011 Aug;69(8):2086-91.
|
||
doi: 10.1016/j.joms.2011.03.073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21783000" target="_blank">21783000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10591425">Combination of von Willebrand disease type 1 and partial factor XII deficiency in children: clinical evidence for a diminished bleeding tendency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeitler P,
|
||
Meissner N,
|
||
Kreth HW</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1999 Nov;88(11):1233-7.
|
||
doi: 10.1080/080352599750030347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10591425" target="_blank">10591425</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22von%20Willebrand%20disease%20type%201%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 (66)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819724">How I treat von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castaman G</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2020 Dec;196:618-625.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1016/j.thromres.2020.07.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819724" target="_blank">32819724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31261173">The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flood VH,
|
||
Garcia J,
|
||
Haberichter SL</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2019 Sep;26(5):331-335.
|
||
doi: 10.1097/MOH.0000000000000524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31261173" target="_blank">31261173</a><a href="/pmc/articles/PMC6727843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29222282">Advances in the diagnosis and treatment of Von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma R,
|
||
Flood VH</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2017 Dec 8;2017(1):379-384.
|
||
doi: 10.1182/asheducation-2017.1.379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29222282" target="_blank">29222282</a><a href="/pmc/articles/PMC6142610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28447419">Controversies in the diagnosis of Type 1 von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowman ML,
|
||
James PD</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2017 May;39 Suppl 1:61-68.
|
||
doi: 10.1111/ijlh.12653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28447419" target="_blank">28447419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10591425">Combination of von Willebrand disease type 1 and partial factor XII deficiency in children: clinical evidence for a diminished bleeding tendency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeitler P,
|
||
Meissner N,
|
||
Kreth HW</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1999 Nov;88(11):1233-7.
|
||
doi: 10.1080/080352599750030347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10591425" target="_blank">10591425</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22von%20Willebrand%20disease%20type%201%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 (105)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33556167">von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadler B,
|
||
Christopherson PA,
|
||
Haller G,
|
||
Montgomery RR,
|
||
Di Paola J</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Jun 10;137(23):3277-3283.
|
||
doi: 10.1182/blood.2020009999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33556167" target="_blank">33556167</a><a href="/pmc/articles/PMC8351900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819724">How I treat von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castaman G</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2020 Dec;196:618-625.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1016/j.thromres.2020.07.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819724" target="_blank">32819724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29222282">Advances in the diagnosis and treatment of Von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma R,
|
||
Flood VH</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2017 Dec 8;2017(1):379-384.
|
||
doi: 10.1182/asheducation-2017.1.379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29222282" target="_blank">29222282</a><a href="/pmc/articles/PMC6142610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21783000">Hemostatic management in pediatric patients with type I von Willebrand disease undergoing oral surgery: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bornert F,
|
||
Clauss F,
|
||
Gros CI,
|
||
Faradji A,
|
||
Schmittbuhl M,
|
||
Manière MC,
|
||
Feki A</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2011 Aug;69(8):2086-91.
|
||
doi: 10.1016/j.joms.2011.03.073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21783000" target="_blank">21783000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12411289">Von Willebrand disease type 1: a diagnosis in search of a disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadler JE</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2003 Mar 15;101(6):2089-93.
|
||
Epub 2002 Oct 31
|
||
doi: 10.1182/blood-2002-09-2892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12411289" target="_blank">12411289</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22von%20Willebrand%20disease%20type%201%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39265913">Low von Willebrand factor-unraveling an enigma wrapped in a conundrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnell JS,
|
||
Baker RI,
|
||
Atiq F</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2024 Dec;22(12):3383-3388.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/j.jtha.2024.08.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39265913" target="_blank">39265913</a><a href="/pmc/articles/PMC11608132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35780487">Longitudinal bleeding assessment in von Willebrand disease utilizing an interim bleeding score.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lavin M,
|
||
Christopherson P,
|
||
Grabell J,
|
||
Abshire T,
|
||
Flood V,
|
||
Haberichter SL,
|
||
Lillicrap D,
|
||
O'Donnell JS,
|
||
Montgomery RR,
|
||
James PD</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2022 Oct;20(10):2246-2254.
|
||
Epub 2022 Jul 26
|
||
doi: 10.1111/jth.15807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35780487" target="_blank">35780487</a><a href="/pmc/articles/PMC10193460" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33556167">von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadler B,
|
||
Christopherson PA,
|
||
Haller G,
|
||
Montgomery RR,
|
||
Di Paola J</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Jun 10;137(23):3277-3283.
|
||
doi: 10.1182/blood.2020009999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33556167" target="_blank">33556167</a><a href="/pmc/articles/PMC8351900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21783000">Hemostatic management in pediatric patients with type I von Willebrand disease undergoing oral surgery: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bornert F,
|
||
Clauss F,
|
||
Gros CI,
|
||
Faradji A,
|
||
Schmittbuhl M,
|
||
Manière MC,
|
||
Feki A</span><br />
|
||
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
|
||
2011 Aug;69(8):2086-91.
|
||
doi: 10.1016/j.joms.2011.03.073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21783000" target="_blank">21783000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10591425">Combination of von Willebrand disease type 1 and partial factor XII deficiency in children: clinical evidence for a diminished bleeding tendency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeitler P,
|
||
Meissner N,
|
||
Kreth HW</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1999 Nov;88(11):1233-7.
|
||
doi: 10.1080/080352599750030347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10591425" target="_blank">10591425</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22von%20Willebrand%20disease%20type%201%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 (35)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35780487">Longitudinal bleeding assessment in von Willebrand disease utilizing an interim bleeding score.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lavin M,
|
||
Christopherson P,
|
||
Grabell J,
|
||
Abshire T,
|
||
Flood V,
|
||
Haberichter SL,
|
||
Lillicrap D,
|
||
O'Donnell JS,
|
||
Montgomery RR,
|
||
James PD</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2022 Oct;20(10):2246-2254.
|
||
Epub 2022 Jul 26
|
||
doi: 10.1111/jth.15807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35780487" target="_blank">35780487</a><a href="/pmc/articles/PMC10193460" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34610118">von Willebrand factor levels in the diagnosis of von Willebrand disease: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalot MA,
|
||
Husainat N,
|
||
El Alayli A,
|
||
Abughanimeh O,
|
||
Diab O,
|
||
Tayiem S,
|
||
Madoukh B,
|
||
Dimassi AB,
|
||
Qureini A,
|
||
Ameer B,
|
||
Eikenboom JCJ,
|
||
Giraud N,
|
||
McLintock C,
|
||
McRae S,
|
||
Montgomery RR,
|
||
O'Donnell JS,
|
||
Scappe N,
|
||
Sidonio RF,
|
||
Brignardello-Petersen R,
|
||
Flood VH,
|
||
Connell NT,
|
||
James PD,
|
||
Mustafa RA</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2022 Jan 11;6(1):62-71.
|
||
doi: 10.1182/bloodadvances.2021005430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34610118" target="_blank">34610118</a><a href="/pmc/articles/PMC8753202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33556167">von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadler B,
|
||
Christopherson PA,
|
||
Haller G,
|
||
Montgomery RR,
|
||
Di Paola J</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Jun 10;137(23):3277-3283.
|
||
doi: 10.1182/blood.2020009999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33556167" target="_blank">33556167</a><a href="/pmc/articles/PMC8351900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31990275">Clinical significance of slightly reduced von Willebrand factor activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bykowska K,
|
||
Ceglarek B</span><br />
|
||
<span class="medgenPMjournal">Pol Arch Intern Med</span>
|
||
2020 Mar 27;130(3):225-231.
|
||
Epub 2020 Jan 28
|
||
doi: 10.20452/pamw.15162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31990275" target="_blank">31990275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27177144">Gingival bleeding and mild type 1 von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weickert L,
|
||
Krekeler S,
|
||
Nickles K,
|
||
Eickholz P,
|
||
Seifried E,
|
||
Miesbach W</span><br />
|
||
<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
|
||
2017 Jan;28(1):19-23.
|
||
doi: 10.1097/MBC.0000000000000526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27177144" target="_blank">27177144</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22von%20Willebrand%20disease%20type%201%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 (62)</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/34749402">Postpartum Hemorrhage in Patients with Type 1 von Willebrand Disease: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pierce-Williams RAM,
|
||
Makhamreh MM,
|
||
Blakey-Cheung S,
|
||
Gao Z,
|
||
Al-Kouatly HB</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2022 Mar;48(2):219-228.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1055/s-0041-1736572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34749402" target="_blank">34749402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34610118">von Willebrand factor levels in the diagnosis of von Willebrand disease: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalot MA,
|
||
Husainat N,
|
||
El Alayli A,
|
||
Abughanimeh O,
|
||
Diab O,
|
||
Tayiem S,
|
||
Madoukh B,
|
||
Dimassi AB,
|
||
Qureini A,
|
||
Ameer B,
|
||
Eikenboom JCJ,
|
||
Giraud N,
|
||
McLintock C,
|
||
McRae S,
|
||
Montgomery RR,
|
||
O'Donnell JS,
|
||
Scappe N,
|
||
Sidonio RF,
|
||
Brignardello-Petersen R,
|
||
Flood VH,
|
||
Connell NT,
|
||
James PD,
|
||
Mustafa RA</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2022 Jan 11;6(1):62-71.
|
||
doi: 10.1182/bloodadvances.2021005430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34610118" target="_blank">34610118</a><a href="/pmc/articles/PMC8753202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22von%20Willebrand%20disease%20type%201%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1264039%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1264039%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1264039%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C1264039%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1264039%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=193400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=166078" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=von%20Willebrand%20disease%20type%201" 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=(%22von%20willebrand%20disease%20type%201%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3083611/">EuroGenetest, 2011</a><div>Clinical utility gene card for: von Willebrand disease</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d59a032f30673f7b260751">von Willebrand disease type 1</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d599ff84f3725e595e5bb3">von Willebrand disease type 2</a>
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<div class="ralinkpop offscreen_noflow">von Willebrand disease type 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d599ec2f30673f7b25a9e8">Von Willebrand Disease - GeneReviews®</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d599eb84f3725e595e07f1">Figure 3. [VWF protein structure and location...]. - GeneReviews®</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d599ea2f30673f7b259b30">Table B. [OMIM Entries for Von Willebrand Disease (View All in OMIM)]. - GeneRev...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Von Willebrand Disease (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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