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<meta name="keywords" content="C0272339, disease or syndrome, fletcher factor deficiency, fletcher trait, pkk deficiency, pkkd, prekallikrein deficiency, 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="Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons.\n\nA few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=75779
|
||
ConceptID=C0272339
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Prekallikrein deficiency<span class="h1sub">(PKKD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75779</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:">C0272339</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>FLETCHER FACTOR DEFICIENCY; PKK DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Fletcher trait (48976006); Prekallikrein deficiency (48976006); Fletcher factor deficiency (48976006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/3818">KLKB1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0044744" target="_blank">MONDO:0044744</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/229000" target="_blank">229000</a>; <a href="https://omim.org/entry/612423" target="_blank">612423</a></td></tr>
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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>
|
||
<div class="portlet_content ln">Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons.<br /><br />A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency. [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_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=C0272339[DISCUI]&test_type=Clinical" ref="ncbi_uid=75779">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75779" target="_blank" href="/omim/229000">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=75779" ref="ncbi_uid=75779">V</a></span></span><span class="TLline">Prekallikrein deficiency</span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/987194" ref="tree=GTR&ncbi_uid=987194&link_uid=987194" title="View MedGen record for 'Inherited prekallikrein deficiency'">Inherited prekallikrein deficiency</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><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/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/354119" ref="tree=MeSH" title="MedGen record for Rare Non-Neoplastic Disorder">Rare Non-Neoplastic Disorder</a></span><ul><li><span class="matched_ds">Prekallikrein deficiency</span><ul><li><span class="TLline"><a href="/medgen/987194" ref="tree=MeSH" title="MedGen record for Inherited prekallikrein deficiency">Inherited prekallikrein deficiency</a></span></li></ul></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=8695&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Prekallikrein deficiency</span> in Orphanet.</div></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/33073460">c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adenaeuer A,
|
||
Ezigbo ED,
|
||
Fawzy Nazir H,
|
||
Barco S,
|
||
Trinchero A,
|
||
Laubert-Reh D,
|
||
Strauch K,
|
||
Wild PS,
|
||
Lackner KJ,
|
||
Lämmle B,
|
||
Rossmann H</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2021 Jan;19(1):147-152.
|
||
Epub 2020 Nov 18
|
||
doi: 10.1111/jth.15137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33073460" target="_blank">33073460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32375196">Role of Factor XIa and Plasma Kallikrein in Arterial and Venous Thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Visser M,
|
||
Heitmeier S,
|
||
Ten Cate H,
|
||
Spronk HMH</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2020 Jun;120(6):883-993.
|
||
Epub 2020 May 6
|
||
doi: 10.1055/s-0040-1710013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32375196" target="_blank">32375196</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27380557">Antithrombotic potential of the contact activation pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmaier AH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2016 Sep;23(5):445-52.
|
||
doi: 10.1097/MOH.0000000000000271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27380557" target="_blank">27380557</a><a href="/pmc/articles/PMC5148823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21091145">Congenital prekallikrein deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
||
Scarparo P,
|
||
Candeo N,
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Lombardi AM</span><br />
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<span class="medgenPMjournal">Expert Rev Hematol</span>
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2010 Dec;3(6):685-95.
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<span class="bold">PMID: </span><a href="/pubmed/21091145" target="_blank">21091145</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/1663601">Low prekallikrein and high angiotensin-converting enzyme activity in patients with chronic renal failure on haemodialysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jankova T,
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Tchankova P,
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1991;6 Suppl 3:6-9.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prekallikrein%20deficiency%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/23629422">Prekallikrein deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quail MT</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/21091145">Congenital prekallikrein deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
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Scarparo P,
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Candeo N,
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Lombardi AM</span><br />
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2010 Dec;3(6):685-95.
|
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doi: 10.1586/ehm.10.69.
|
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<span class="bold">PMID: </span><a href="/pubmed/21091145" target="_blank">21091145</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12421145">The contact system.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kitchens CS</span><br />
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2002 Nov;126(11):1382-6.
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<span class="bold">PMID: </span><a href="/pubmed/12421145" target="_blank">12421145</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2014441">Stroke in a young adult with Fletcher trait.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hess DC,
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Krauss JS,
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<div class="nl"><a target="_blank" href="/pubmed/937251">Fletcher factor deficiency and myocardial infarction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Currimbhoy Z,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prekallikrein%20deficiency%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 (22)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33827130">Plasmin-mediated cleavage of high-molecular-weight kininogen contributes to acetaminophen-induced acute liver failure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Henderson MW,
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Sparkenbaugh EM,
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Wang S,
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Ilich A,
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Noubouossie DF,
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Mailer R,
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Renné T,
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Flick MJ,
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Luyendyk JP,
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Chen ZL,
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Strickland S,
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Stravitz RT,
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McCrae KR,
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Key NS,
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Pawlinski R</span><br />
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<span class="medgenPMjournal">Blood</span>
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doi: 10.1182/blood.2020006198.
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<span class="bold">PMID: </span><a href="/pubmed/33827130" target="_blank">33827130</a><a href="/pmc/articles/PMC8310429" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33109328">Hereditary angioedema: Investigational therapies and future research.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan AP</span><br />
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2020 Nov 1;41(Suppl 1):S51-S54.
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doi: 10.2500/aap.2020.41.200056.
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<span class="bold">PMID: </span><a href="/pubmed/33109328" target="_blank">33109328</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32375196">Role of Factor XIa and Plasma Kallikrein in Arterial and Venous Thrombosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Visser M,
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Heitmeier S,
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Ten Cate H,
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Spronk HMH</span><br />
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2020 Jun;120(6):883-993.
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Epub 2020 May 6
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doi: 10.1055/s-0040-1710013.
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<span class="bold">PMID: </span><a href="/pubmed/32375196" target="_blank">32375196</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18832918">Practical approach to anticoagulation for cardiopulmonary bypass in the patient with congenital prolonged activated partial thromboplastin time.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cankovic L,
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Steenwyk BL,
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McGiffin DC,
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Nielsen VG</span><br />
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<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
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2008 Oct;19(7):725-6.
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doi: 10.1097/MBC.0b013e32830891ab.
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<span class="bold">PMID: </span><a href="/pubmed/18832918" target="_blank">18832918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2014441">Stroke in a young adult with Fletcher trait.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hess DC,
|
||
Krauss JS,
|
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Rardin D</span><br />
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<span class="medgenPMjournal">South Med J</span>
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1991 Apr;84(4):507-8.
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doi: 10.1097/00007611-199104000-00027.
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<span class="bold">PMID: </span><a href="/pubmed/2014441" target="_blank">2014441</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prekallikrein%20deficiency%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33940978">A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Riano I,
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doi: 10.1177/23247096211012187.
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<span class="bold">PMID: </span><a href="/pubmed/33940978" target="_blank">33940978</a><a href="/pmc/articles/PMC8114252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32202057">Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barco S,
|
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Sollfrank S,
|
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Trinchero A,
|
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Adenaeuer A,
|
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Abolghasemi H,
|
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Conti L,
|
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Häuser F,
|
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Kremer Hovinga JA,
|
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Lackner KJ,
|
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Loewecke F,
|
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Miloni E,
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Vazifeh Shiran N,
|
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Tomao L,
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Wuillemin WA,
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Zieger B,
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Lämmle B,
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Rossmann H</span><br />
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<span class="medgenPMjournal">J Thromb Haemost</span>
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2020 Jul;18(7):1598-1617.
|
||
Epub 2020 May 15
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||
doi: 10.1111/jth.14805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32202057" target="_blank">32202057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29762144">Cardiovascular diseases in congenital prekallikrein deficiency: comparison with other chance-associated morbidities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
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Ferrari S,
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Cosi E,
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Girolami B</span><br />
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2018 Jul;29(5):423-428.
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doi: 10.1097/MBC.0000000000000735.
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<span class="bold">PMID: </span><a href="/pubmed/29762144" target="_blank">29762144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21091145">Congenital prekallikrein deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
||
Scarparo P,
|
||
Candeo N,
|
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Lombardi AM</span><br />
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<span class="medgenPMjournal">Expert Rev Hematol</span>
|
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2010 Dec;3(6):685-95.
|
||
doi: 10.1586/ehm.10.69.
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||
<span class="bold">PMID: </span><a href="/pubmed/21091145" target="_blank">21091145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15461630">Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wynne Jones D,
|
||
Russell G,
|
||
Allford SL,
|
||
Burdon K,
|
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Hawkins GA,
|
||
Bowden DW,
|
||
Minaee S,
|
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Mumford AD</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
|
||
2004 Oct;127(2):220-3.
|
||
doi: 10.1111/j.1365-2141.2004.05180.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15461630" target="_blank">15461630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prekallikrein%20deficiency%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33827130">Plasmin-mediated cleavage of high-molecular-weight kininogen contributes to acetaminophen-induced acute liver failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henderson MW,
|
||
Sparkenbaugh EM,
|
||
Wang S,
|
||
Ilich A,
|
||
Noubouossie DF,
|
||
Mailer R,
|
||
Renné T,
|
||
Flick MJ,
|
||
Luyendyk JP,
|
||
Chen ZL,
|
||
Strickland S,
|
||
Stravitz RT,
|
||
McCrae KR,
|
||
Key NS,
|
||
Pawlinski R</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Jul 22;138(3):259-272.
|
||
doi: 10.1182/blood.2020006198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33827130" target="_blank">33827130</a><a href="/pmc/articles/PMC8310429" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31888778">Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
||
Rolland C,
|
||
Sexton D,
|
||
Vardi M,
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Bernstein JA</span><br />
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||
<span class="medgenPMjournal">Allergy Asthma Proc</span>
|
||
2020 Jan 17;41(1):10-18.
|
||
doi: 10.2500/aap.2020.41.190005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31888778" target="_blank">31888778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25886833">Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
||
Ferrari S,
|
||
Cosi E,
|
||
Sambado L,
|
||
Girolami B</span><br />
|
||
<span class="medgenPMjournal">Blood Coagul Fibrinolysis</span>
|
||
2015 Jul;26(5):560-3.
|
||
doi: 10.1097/MBC.0000000000000294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25886833" target="_blank">25886833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15461630">Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wynne Jones D,
|
||
Russell G,
|
||
Allford SL,
|
||
Burdon K,
|
||
Hawkins GA,
|
||
Bowden DW,
|
||
Minaee S,
|
||
Mumford AD</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2004 Oct;127(2):220-3.
|
||
doi: 10.1111/j.1365-2141.2004.05180.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15461630" target="_blank">15461630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3439728">The effects of surface chemistry and coagulation factors on fibrinogen adsorption from plasma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slack SM,
|
||
Bohnert JL,
|
||
Horbett TA</span><br />
|
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<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
1987;516:223-43.
|
||
doi: 10.1111/j.1749-6632.1987.tb33044.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3439728" target="_blank">3439728</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prekallikrein%20deficiency%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 (13)</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/31888778">Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
||
Rolland C,
|
||
Sexton D,
|
||
Vardi M,
|
||
Bernstein JA</span><br />
|
||
<span class="medgenPMjournal">Allergy Asthma Proc</span>
|
||
2020 Jan 17;41(1):10-18.
|
||
doi: 10.2500/aap.2020.41.190005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31888778" target="_blank">31888778</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prekallikrein%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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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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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0272339%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272339%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0272339%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0272339%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Prekallikrein%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Prekallikrein+deficiency/9145" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/prekallikrein_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Prekallikrein%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/prekallikrein-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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