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<meta name="keywords" content="C0018924, bleeding into joint, bleeding within a joint, hemarthroses, hemarthrosis, hemarthrosis of ankle and/or foot, hemarthrosis of shoulder region, hemarthrosis of the ankle and/or foot, hemarthrosis of the shoulder region, joint hemorrhage, pathologic function, spontaneous joint haemorrhage, spontaneous joint hemorrhage, 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="Hemorrhage occurring within a joint." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=5479
|
||
ConceptID=C0018924
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Joint hemorrhage</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hemarthrosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bleeding into joint (81808003); Hemarthrosis (81808003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005261">HP:0005261</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004431" target="_blank">MONDO:0004431</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hemorrhage occurring within a joint. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0018924[DISCUI]&test_type=Clinical" ref="ncbi_uid=5479">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Joint hemorrhage</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/893053" ref="tree=MeSH" title="MedGen record for Abnormal joint morphology">Abnormal joint morphology</a></span><ul><li><span class="TLline"><a href="/medgen/7190" ref="tree=MeSH" title="MedGen record for Arthropathy">Arthropathy</a></span><ul><li><span class="matched_ds">Joint hemorrhage</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_945"><div><strong>Hereditary factor IX deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>945</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.">C0008533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Individuals with severe hemophilia B are usually diagnosed during the first two years of life. Without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month, including spontaneous joint or muscle bleeds, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia B seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years. The frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions. The frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B). As in males, bleeding severity generally correlates with factor levels. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5501"><div><strong>Hereditary factor VIII deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5501</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.">C0019069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged bleeding after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. Individuals with severe hemophilia A are usually diagnosed during the first two years of life following oral or soft tissue bleeding either with procedures or due to a known family history of hemophilia. Without prophylactic treatment, individuals may average up to two to five spontaneous bleeding episodes each month including spontaneous joint bleeds or deep-muscle hematomas, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia A seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed bleeding after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor VIII clotting activity below 40% and are at risk for bleeding (even if males in the family are only mildly affected). After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. In addition, 25% of heterozygous females with normal factor VIII clotting activity report an increased bleeding tendency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5501">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124425"><div><strong>Congenital prothrombin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124425</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.">C0272317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_473015"><div><strong>Congenital factor VII deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473015</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.">C0272320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473015">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_543976"><div><strong>Hereditary factor X deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543976</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.">C0272327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220393"><div><strong>von Willebrand disease type 1</strong><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></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220393">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266075"><div><strong>von Willebrand disease type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266075</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.">C1264041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326416"><div><strong>Thrombocytopenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326416</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326416">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376381"><div><strong>Vitamin K-dependent clotting factors, combined deficiency of, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376381</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.">C1848534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356528"><div><strong>Quebec platelet disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356528</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.">C1866423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356528">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442497"><div><strong>Factor XIII, A subunit, deficiency of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442497</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.">C2750514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414043"><div><strong>Platelet-type bleeding disorder 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414043</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.">C2751535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414043">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414178"><div><strong>Alpha-2-plasmin inhibitor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414178</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.">C2752081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414178">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414178" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-2-plasmin inhibitor deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_473015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital factor VII deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital prothrombin deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor XIII, A subunit, deficiency of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor IX deficiency disease</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor VIII deficiency disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_543976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor X deficiency disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Quebec platelet disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin K-dependent clotting factors, combined deficiency of, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">von Willebrand disease type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">von Willebrand disease type 3</a></div></span></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/38981851">Joint health and pain in the changing hemophilia treatment landscape.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancuso ME,
|
||
McLaughlin P,
|
||
Forsyth AL,
|
||
Valentino LA</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Hematol</span>
|
||
2024 Aug;17(8):431-444.
|
||
Epub 2024 Jul 15
|
||
doi: 10.1080/17474086.2024.2378936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38981851" target="_blank">38981851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21239793">The aging patient with hemophilia: complications, comorbidities, and management issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Philipp C</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2010;2010:191-6.
|
||
doi: 10.1182/asheducation-2010.1.191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21239793" target="_blank">21239793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14690062">Update on treatment regimens: prophylaxis versus on-demand therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2003 Jul;40(3 Suppl 3):3-9.
|
||
doi: 10.1016/s0037-1963(03)80732-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14690062" target="_blank">14690062</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22joint%20hemorrhage%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 (3)</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/35711531">Correlation Analysis of DNA Methylation in the von Willebrand Factor Promoter Region and the Risk of Unexplained Recurrent Hemophilia: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong J,
|
||
Li J,
|
||
Yang L,
|
||
Kong Q,
|
||
Zhang Z,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Contrast Media Mol Imaging</span>
|
||
2022;2022:3977289.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1155/2022/3977289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35711531" target="_blank">35711531</a><a href="/pmc/articles/PMC9187466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17687129">Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ,
|
||
Abshire TC,
|
||
Shapiro AD,
|
||
Riske B,
|
||
Hacker MR,
|
||
Kilcoyne R,
|
||
Ingram JD,
|
||
Manco-Johnson ML,
|
||
Funk S,
|
||
Jacobson L,
|
||
Valentino LA,
|
||
Hoots WK,
|
||
Buchanan GR,
|
||
DiMichele D,
|
||
Recht M,
|
||
Brown D,
|
||
Leissinger C,
|
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Bleak S,
|
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Cohen A,
|
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Mathew P,
|
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Matsunaga A,
|
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Medeiros D,
|
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Nugent D,
|
||
Thomas GA,
|
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Thompson AA,
|
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McRedmond K,
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Soucie JM,
|
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Evatt BL</span><br />
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|
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<span class="bold">PMID: </span><a href="/pubmed/17687129" target="_blank">17687129</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2598113">MRI of the knee in diffuse pigmented villonodular synovitis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Steinbach LS,
|
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Neumann CH,
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Stoller DW,
|
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Mills CM,
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Crues JV 3rd,
|
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Lipman JK,
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Genant HK</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/2598113" target="_blank">2598113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/578865">Severe degenerative joint disease. Mild and moderately severe hemophilia A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilchrist GS,
|
||
Hagedorn AB,
|
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Stauffer RN</span><br />
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<span class="medgenPMjournal">JAMA</span>
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<span class="bold">PMID: </span><a href="/pubmed/578865" target="_blank">578865</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joint%20hemorrhage%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38981851">Joint health and pain in the changing hemophilia treatment landscape.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mancuso ME,
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McLaughlin P,
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Forsyth AL,
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Valentino LA</span><br />
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<span class="medgenPMjournal">Expert Rev Hematol</span>
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2024 Aug;17(8):431-444.
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Epub 2024 Jul 15
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doi: 10.1080/17474086.2024.2378936.
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<span class="bold">PMID: </span><a href="/pubmed/38981851" target="_blank">38981851</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31796337">Serological biomarkers in hemophilic arthropathy: Can they be used to monitor bleeding and ongoing progression of blood-induced joint disease in patients with hemophilia?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Merchan EC</span><br />
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<span class="medgenPMjournal">Blood Rev</span>
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2020 May;41:100642.
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Epub 2019 Nov 20
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doi: 10.1016/j.blre.2019.100642.
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<span class="bold">PMID: </span><a href="/pubmed/31796337" target="_blank">31796337</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/12640559">A healthy hemophilic patient without arthropathy: from concept to clinical reality.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berntorp E,
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Michiels JJ</span><br />
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2003 Feb;29(1):5-10.
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<span class="bold">PMID: </span><a href="/pubmed/12640559" target="_blank">12640559</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12368689">32P Radiosynoviorthesis in children with hemophilia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ,
|
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Nuss R,
|
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Lear J,
|
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Wiedel J,
|
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Geraghty SJ,
|
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Hacker MR,
|
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Funk S,
|
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Kilcoyne RF,
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Murphy J</span><br />
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2002 Oct;24(7):534-9.
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doi: 10.1097/00043426-200210000-00007.
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<span class="bold">PMID: </span><a href="/pubmed/12368689" target="_blank">12368689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2598113">MRI of the knee in diffuse pigmented villonodular synovitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinbach LS,
|
||
Neumann CH,
|
||
Stoller DW,
|
||
Mills CM,
|
||
Crues JV 3rd,
|
||
Lipman JK,
|
||
Helms CA,
|
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Genant HK</span><br />
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<span class="medgenPMjournal">Clin Imaging</span>
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1989 Dec;13(4):305-16.
|
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doi: 10.1016/0899-7071(89)90064-8.
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<span class="bold">PMID: </span><a href="/pubmed/2598113" target="_blank">2598113</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joint%20hemorrhage%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35711531">Correlation Analysis of DNA Methylation in the von Willebrand Factor Promoter Region and the Risk of Unexplained Recurrent Hemophilia: Systematic Review and Meta-Analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dong J,
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Li J,
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Yang L,
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Kong Q,
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Zhang Z,
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Zhang H</span><br />
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<span class="medgenPMjournal">Contrast Media Mol Imaging</span>
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2022;2022:3977289.
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Epub 2022 Jun 3
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doi: 10.1155/2022/3977289.
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<span class="bold">PMID: </span><a href="/pubmed/35711531" target="_blank">35711531</a><a href="/pmc/articles/PMC9187466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17687129">Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ,
|
||
Abshire TC,
|
||
Shapiro AD,
|
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Riske B,
|
||
Hacker MR,
|
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Kilcoyne R,
|
||
Ingram JD,
|
||
Manco-Johnson ML,
|
||
Funk S,
|
||
Jacobson L,
|
||
Valentino LA,
|
||
Hoots WK,
|
||
Buchanan GR,
|
||
DiMichele D,
|
||
Recht M,
|
||
Brown D,
|
||
Leissinger C,
|
||
Bleak S,
|
||
Cohen A,
|
||
Mathew P,
|
||
Matsunaga A,
|
||
Medeiros D,
|
||
Nugent D,
|
||
Thomas GA,
|
||
Thompson AA,
|
||
McRedmond K,
|
||
Soucie JM,
|
||
Austin H,
|
||
Evatt BL</span><br />
|
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<span class="medgenPMjournal">N Engl J Med</span>
|
||
2007 Aug 9;357(6):535-44.
|
||
doi: 10.1056/NEJMoa067659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17687129" target="_blank">17687129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15989485">Radiosynovectomy in hemophilic synovitis: correlation of therapeutic response and blood-pool changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Türkmen C,
|
||
Zülflkar B,
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Taşer O,
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Tokmak H,
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Kílíçoglu O,
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Mudun A,
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Unal S,
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Adalet I,
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Cantez S</span><br />
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<span class="medgenPMjournal">Cancer Biother Radiopharm</span>
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2005 Jun;20(3):363-70.
|
||
doi: 10.1089/cbr.2005.20.363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15989485" target="_blank">15989485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14690062">Update on treatment regimens: prophylaxis versus on-demand therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ</span><br />
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<span class="medgenPMjournal">Semin Hematol</span>
|
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2003 Jul;40(3 Suppl 3):3-9.
|
||
doi: 10.1016/s0037-1963(03)80732-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14690062" target="_blank">14690062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12368689">32P Radiosynoviorthesis in children with hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ,
|
||
Nuss R,
|
||
Lear J,
|
||
Wiedel J,
|
||
Geraghty SJ,
|
||
Hacker MR,
|
||
Funk S,
|
||
Kilcoyne RF,
|
||
Murphy J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2002 Oct;24(7):534-9.
|
||
doi: 10.1097/00043426-200210000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12368689" target="_blank">12368689</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joint%20hemorrhage%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31796337">Serological biomarkers in hemophilic arthropathy: Can they be used to monitor bleeding and ongoing progression of blood-induced joint disease in patients with hemophilia?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Merchan EC</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2020 May;41:100642.
|
||
Epub 2019 Nov 20
|
||
doi: 10.1016/j.blre.2019.100642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31796337" target="_blank">31796337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31594977">Hemophilia A and B mice, but not VWF(-/-)mice, display bone defects in congenital development and remodeling after injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taves S,
|
||
Sun J,
|
||
Livingston EW,
|
||
Chen X,
|
||
Amiaud J,
|
||
Brion R,
|
||
Hannah WB,
|
||
Bateman TA,
|
||
Heymann D,
|
||
Monahan PE</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Oct 8;9(1):14428.
|
||
doi: 10.1038/s41598-019-50787-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31594977" target="_blank">31594977</a><a href="/pmc/articles/PMC6783554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19822585">Athletic participation in severe hemophilia: bleeding and joint outcomes in children on prophylaxis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ross C,
|
||
Goldenberg NA,
|
||
Hund D,
|
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Manco-Johnson MJ</span><br />
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<span class="medgenPMjournal">Pediatrics</span>
|
||
2009 Nov;124(5):1267-72.
|
||
Epub 2009 Oct 12
|
||
doi: 10.1542/peds.2009-0072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19822585" target="_blank">19822585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17687129">Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ,
|
||
Abshire TC,
|
||
Shapiro AD,
|
||
Riske B,
|
||
Hacker MR,
|
||
Kilcoyne R,
|
||
Ingram JD,
|
||
Manco-Johnson ML,
|
||
Funk S,
|
||
Jacobson L,
|
||
Valentino LA,
|
||
Hoots WK,
|
||
Buchanan GR,
|
||
DiMichele D,
|
||
Recht M,
|
||
Brown D,
|
||
Leissinger C,
|
||
Bleak S,
|
||
Cohen A,
|
||
Mathew P,
|
||
Matsunaga A,
|
||
Medeiros D,
|
||
Nugent D,
|
||
Thomas GA,
|
||
Thompson AA,
|
||
McRedmond K,
|
||
Soucie JM,
|
||
Austin H,
|
||
Evatt BL</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2007 Aug 9;357(6):535-44.
|
||
doi: 10.1056/NEJMoa067659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17687129" target="_blank">17687129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14690062">Update on treatment regimens: prophylaxis versus on-demand therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2003 Jul;40(3 Suppl 3):3-9.
|
||
doi: 10.1016/s0037-1963(03)80732-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14690062" target="_blank">14690062</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joint%20hemorrhage%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31796337">Serological biomarkers in hemophilic arthropathy: Can they be used to monitor bleeding and ongoing progression of blood-induced joint disease in patients with hemophilia?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Merchan EC</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2020 May;41:100642.
|
||
Epub 2019 Nov 20
|
||
doi: 10.1016/j.blre.2019.100642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31796337" target="_blank">31796337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31594977">Hemophilia A and B mice, but not VWF(-/-)mice, display bone defects in congenital development and remodeling after injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taves S,
|
||
Sun J,
|
||
Livingston EW,
|
||
Chen X,
|
||
Amiaud J,
|
||
Brion R,
|
||
Hannah WB,
|
||
Bateman TA,
|
||
Heymann D,
|
||
Monahan PE</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Oct 8;9(1):14428.
|
||
doi: 10.1038/s41598-019-50787-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31594977" target="_blank">31594977</a><a href="/pmc/articles/PMC6783554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14690062">Update on treatment regimens: prophylaxis versus on-demand therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manco-Johnson MJ</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2003 Jul;40(3 Suppl 3):3-9.
|
||
doi: 10.1016/s0037-1963(03)80732-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14690062" target="_blank">14690062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12598327">Short-term exposure of cartilage to blood results in chondrocyte apoptosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hooiveld M,
|
||
Roosendaal G,
|
||
Wenting M,
|
||
van den Berg M,
|
||
Bijlsma J,
|
||
Lafeber F</span><br />
|
||
<span class="medgenPMjournal">Am J Pathol</span>
|
||
2003 Mar;162(3):943-51.
|
||
doi: 10.1016/S0002-9440(10)63889-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12598327" target="_blank">12598327</a><a href="/pmc/articles/PMC1868108" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/578865">Severe degenerative joint disease. Mild and moderately severe hemophilia A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilchrist GS,
|
||
Hagedorn AB,
|
||
Stauffer RN</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1977 Nov 28;238(22):2383-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/578865" target="_blank">578865</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joint%20hemorrhage%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 (5)</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/35711531">Correlation Analysis of DNA Methylation in the von Willebrand Factor Promoter Region and the Risk of Unexplained Recurrent Hemophilia: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong J,
|
||
Li J,
|
||
Yang L,
|
||
Kong Q,
|
||
Zhang Z,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Contrast Media Mol Imaging</span>
|
||
2022;2022:3977289.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1155/2022/3977289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35711531" target="_blank">35711531</a><a href="/pmc/articles/PMC9187466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joint%20hemorrhage%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><li><a href="/gtr/tests?term=C0018924%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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<li><a href="/gtr/tests?term=C0018924%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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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=(%22joint%20hemorrhage%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Joint%20hemorrhage%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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