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<!--
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||
UID=107511
|
||
ConceptID=C0553681
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypofibrinogenemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107511</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.">C0553681</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>Low fibrinogen activity; Low fibrinogen level</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypofibrinogenemia (234457009)</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:0011900">HP:0011900</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>
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||
<div class="portlet_content ln">Decreased concentration of fibrinogen in the blood. [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_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=C0553681[DISCUI]&test_type=Clinical" ref="ncbi_uid=107511">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=107511" ref="ncbi_uid=107511">V</a></span></span><span class="TLline">Hypofibrinogenemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/869187" ref="tree=MeSH" title="MedGen record for Abnormality of the common coagulation pathway">Abnormality of the common coagulation pathway</a></span><ul><li><span class="TLline"><a href="/medgen/868734" ref="tree=MeSH" title="MedGen record for Abnormality of circulating fibrinogen">Abnormality of circulating fibrinogen</a></span><ul><li><span class="matched_ds">Hypofibrinogenemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<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">
|
||
<div class="divPopper rprt" id="rdis_99306"><div><strong>Subcutaneous panniculitis-like T-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99306</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.">C0522624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see 186910)+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by Gayden et al., 2018). For a general discussion of genetic heterogeneity of HLH, see HLH1 (267700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99306">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332383"><div><strong>Familial hemophagocytic lymphohistiocytosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332383</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.">C1837174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (170280)-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see 267700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336848"><div><strong>X-linked lymphoproliferative disease due to XIAP deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336848</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:">C1845076</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336848">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400366"><div><strong>Familial hemophagocytic lymphohistiocytosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400366</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.">C1863727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350245"><div><strong>Familial hemophagocytic lymphohistiocytosis 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350245</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.">C1863728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; 147730). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see 267700.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350245">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_749036"><div><strong>Congenital afibrinogenemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>749036</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.">C2584774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009). Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/749036">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863504"><div><strong>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863504</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.">C4015067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642840"><div><strong>Familial hemophagocytic lymphohistiocytosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642840</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.">C4551514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642840">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786417"><div><strong>Immunodeficiency 80 with or without congenital cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786417</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.">C5543344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794196"><div><strong>Congenital disorder of glycosylation, type IIw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794196</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.">C5561986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794196">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840982"><div><strong>Immunodeficiency 109 with lymphoproliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840982</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.">C5830346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-109 with EBV-induced lymphoproliferation (IMD109) is an autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Affected individuals are susceptible to infection with EBV and develop EBV viremia and EBV-associated lymphoproliferative disease or B-cell lymphoma. Immunologic workup shows normal levels of T, B, and NK cells, with defective CD8+ T cell function after stimulation. Some patients may have hypogammaglobulinemia and poor antibody response to stimulation (Alosaimi et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840982">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841120"><div><strong>Combined low LDL and fibrinogen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841120</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.">C5830484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
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<div class="spaceAbove">A variant in the B4GALT1 gene results in lower levels of both LDL cholesterol and fibrinogen and is associated with lower levels of cardiovascular disease (Montasser et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848890"><div><strong>Immunodeficiency 114, folate-responsive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848890</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.">C5882719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Folate-responsive immunodeficiency-114 (IMD114) is an autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Affected individuals have lip fissures, skin sores and abscesses, genital dermatitis, chronic diarrhea, and poor overall growth. Laboratory studies show megaloblastic anemia, thrombocytopenia, and lymphopenia with decreased Ig levels. Some individuals have global developmental delay, often with brain imaging abnormalities. Treatment with folic acid supplementation results in significant clinical improvement of the hematologic and immunologic abnormalities, although neurologic abnormalities, if already present, do not respond to treatment. Early intervention and treatment with folic acid supplementation may prevent or delay neurologic deficits in affected infants (Gok et al., 2023; Shiraishi et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848890">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined low LDL and fibrinogen</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_749036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital afibrinogenemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIw</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 109 with lymphoproliferation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 114, folate-responsive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 80 with or without congenital cardiomyopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periodic fever-infantile enterocolitis-autoinflammatory syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous panniculitis-like T-cell lymphoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lymphoproliferative disease due to XIAP deficiency</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/32420774">Hypofibrinogenemia and disseminated intravascular coagulation rarely complicate treatment-naïve acute lymphoblastic leukemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gaulin C,
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Chan A,
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Derkach A,
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Park JH,
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Mantha S,
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Geyer MB,
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Tallman MS</span><br />
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<span class="medgenPMjournal">Leuk Lymphoma</span>
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2020 Oct;61(10):2497-2501.
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Epub 2020 May 18
|
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doi: 10.1080/10428194.2020.1765236.
|
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<span class="bold">PMID: </span><a href="/pubmed/32420774" target="_blank">32420774</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27184441">Massive obstetric hemorrhage: Current approach to management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guasch E,
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Gilsanz F</span><br />
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<span class="medgenPMjournal">Med Intensiva</span>
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2016 Jun-Jul;40(5):298-310.
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Epub 2016 May 13
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doi: 10.1016/j.medin.2016.02.010.
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<span class="bold">PMID: </span><a href="/pubmed/27184441" target="_blank">27184441</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/16937360">HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Henter JI,
|
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Horne A,
|
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Aricó M,
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Egeler RM,
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Filipovich AH,
|
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Imashuku S,
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Ladisch S,
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McClain K,
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Webb D,
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Winiarski J,
|
||
Janka G</span><br />
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||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2007 Feb;48(2):124-31.
|
||
doi: 10.1002/pbc.21039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16937360" target="_blank">16937360</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypofibrinogenemia%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 (62)</a></div></div>
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</div>
|
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<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/35290265">Role of Fibrinogen in Trauma-Induced Coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meizoso JP,
|
||
Moore EE,
|
||
Pieracci FM,
|
||
Saberi RA,
|
||
Ghasabyan A,
|
||
Chandler J,
|
||
Namias N,
|
||
Sauaia A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Surg</span>
|
||
2022 Apr 1;234(4):465-473.
|
||
doi: 10.1097/XCS.0000000000000078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35290265" target="_blank">35290265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34071368">Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Callea F,
|
||
Francalanci P,
|
||
Giovannoni I</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 May 28;22(11)
|
||
doi: 10.3390/ijms22115778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34071368" target="_blank">34071368</a><a href="/pmc/articles/PMC8198767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32603068">Blood Product Transfusion in Adults: Indications, Adverse Reactions, and Modifications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raval JS,
|
||
Griggs JR,
|
||
Fleg A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2020 Jul 1;102(1):30-38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32603068" target="_blank">32603068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31151946">Hemophagocytic Lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skinner J,
|
||
Yankey B,
|
||
Shelton BK</span><br />
|
||
<span class="medgenPMjournal">AACN Adv Crit Care</span>
|
||
2019 Summer;30(2):151-164.
|
||
doi: 10.4037/aacnacc2019463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31151946" target="_blank">31151946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26637712">Postpartum hemorrhage: a continuing challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lockhart E</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2015;2015:132-7.
|
||
doi: 10.1182/asheducation-2015.1.132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26637712" target="_blank">26637712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypofibrinogenemia%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 (325)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35290265">Role of Fibrinogen in Trauma-Induced Coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meizoso JP,
|
||
Moore EE,
|
||
Pieracci FM,
|
||
Saberi RA,
|
||
Ghasabyan A,
|
||
Chandler J,
|
||
Namias N,
|
||
Sauaia A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Surg</span>
|
||
2022 Apr 1;234(4):465-473.
|
||
doi: 10.1097/XCS.0000000000000078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35290265" target="_blank">35290265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33729219">Role of fibrinogen concentrates for treatment of critical perioperative hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koller T,
|
||
Parera Ruiz A,
|
||
Diaz-Ricart M,
|
||
Gómez Caro AM</span><br />
|
||
<span class="medgenPMjournal">Drugs Today (Barc)</span>
|
||
2021 Mar;57(3):219-239.
|
||
doi: 10.1358/dot.2021.57.3.3250287.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33729219" target="_blank">33729219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31151946">Hemophagocytic Lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skinner J,
|
||
Yankey B,
|
||
Shelton BK</span><br />
|
||
<span class="medgenPMjournal">AACN Adv Crit Care</span>
|
||
2019 Summer;30(2):151-164.
|
||
doi: 10.4037/aacnacc2019463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31151946" target="_blank">31151946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26637712">Postpartum hemorrhage: a continuing challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lockhart E</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2015;2015:132-7.
|
||
doi: 10.1182/asheducation-2015.1.132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26637712" target="_blank">26637712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16937360">HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henter JI,
|
||
Horne A,
|
||
Aricó M,
|
||
Egeler RM,
|
||
Filipovich AH,
|
||
Imashuku S,
|
||
Ladisch S,
|
||
McClain K,
|
||
Webb D,
|
||
Winiarski J,
|
||
Janka G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2007 Feb;48(2):124-31.
|
||
doi: 10.1002/pbc.21039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16937360" target="_blank">16937360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypofibrinogenemia%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 (369)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35290265">Role of Fibrinogen in Trauma-Induced Coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meizoso JP,
|
||
Moore EE,
|
||
Pieracci FM,
|
||
Saberi RA,
|
||
Ghasabyan A,
|
||
Chandler J,
|
||
Namias N,
|
||
Sauaia A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Surg</span>
|
||
2022 Apr 1;234(4):465-473.
|
||
doi: 10.1097/XCS.0000000000000078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35290265" target="_blank">35290265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32603068">Blood Product Transfusion in Adults: Indications, Adverse Reactions, and Modifications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raval JS,
|
||
Griggs JR,
|
||
Fleg A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2020 Jul 1;102(1):30-38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32603068" target="_blank">32603068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31201069">Valproic Acid-Induced Coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar R,
|
||
Vidaurre J,
|
||
Gedela S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Sep;98:25-30.
|
||
Epub 2019 May 2
|
||
doi: 10.1016/j.pediatrneurol.2019.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31201069" target="_blank">31201069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27184441">Massive obstetric hemorrhage: Current approach to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guasch E,
|
||
Gilsanz F</span><br />
|
||
<span class="medgenPMjournal">Med Intensiva</span>
|
||
2016 Jun-Jul;40(5):298-310.
|
||
Epub 2016 May 13
|
||
doi: 10.1016/j.medin.2016.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27184441" target="_blank">27184441</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21404983">Transfusion of blood and blood products: indications and complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma S,
|
||
Sharma P,
|
||
Tyler LN</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2011 Mar 15;83(6):719-24.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21404983" target="_blank">21404983</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypofibrinogenemia%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 (352)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36513434">The role of fibrinogen in postpartum hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vermeulen T,
|
||
Van de Velde M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Anaesthesiol</span>
|
||
2022 Dec;36(3-4):399-410.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1016/j.bpa.2022.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36513434" target="_blank">36513434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35290265">Role of Fibrinogen in Trauma-Induced Coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meizoso JP,
|
||
Moore EE,
|
||
Pieracci FM,
|
||
Saberi RA,
|
||
Ghasabyan A,
|
||
Chandler J,
|
||
Namias N,
|
||
Sauaia A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Surg</span>
|
||
2022 Apr 1;234(4):465-473.
|
||
doi: 10.1097/XCS.0000000000000078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35290265" target="_blank">35290265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32603068">Blood Product Transfusion in Adults: Indications, Adverse Reactions, and Modifications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raval JS,
|
||
Griggs JR,
|
||
Fleg A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2020 Jul 1;102(1):30-38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32603068" target="_blank">32603068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505639">Unpredicted late-, new-onset thrombocytopenia and hypofibrinogenemia in Fab antivenom-treated rattlesnake envenomation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seifert SA,
|
||
Mascarenas DN,
|
||
Fullerton L,
|
||
Warrick BJ,
|
||
Smolinske SC</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2020 Sep;184:55-56.
|
||
Epub 2020 Jun 4
|
||
doi: 10.1016/j.toxicon.2020.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505639" target="_blank">32505639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15004306">Congenital hypofibrinogenemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Awasthy N,
|
||
Aggarwal KC,
|
||
Gupta H,
|
||
Saluja S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2004 Feb;41(2):185-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15004306" target="_blank">15004306</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypofibrinogenemia%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 (216)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38286442">Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohsenian S,
|
||
Palla R,
|
||
Menegatti M,
|
||
Cairo A,
|
||
Lecchi A,
|
||
Casini A,
|
||
Neerman-Arbez M,
|
||
Asselta R,
|
||
Scardo S,
|
||
Siboni SM,
|
||
Blatny J,
|
||
Zapletal O,
|
||
Schved JF,
|
||
Giansily-Blaizot M,
|
||
Halimeh S,
|
||
Daoud MA,
|
||
Platokouki H,
|
||
Pergantou H,
|
||
Schutgens REG,
|
||
Van Haaften-Spoor M,
|
||
Brons P,
|
||
Laros-van Gorkom B,
|
||
Van Pinxten E,
|
||
Borhany M,
|
||
Fatima N,
|
||
Mikovic D,
|
||
Saracevic M,
|
||
Özdemir GN,
|
||
Ay Y,
|
||
Makris M,
|
||
Lockley C,
|
||
Mumford A,
|
||
Harvey A,
|
||
Austin S,
|
||
Shapiro A,
|
||
Williamson A,
|
||
McGuinn C,
|
||
Goldberg I,
|
||
De Moerloose P,
|
||
Peyvandi F</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2024 Mar 26;8(6):1392-1404.
|
||
doi: 10.1182/bloodadvances.2023012186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38286442" target="_blank">38286442</a><a href="/pmc/articles/PMC10950829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36513434">The role of fibrinogen in postpartum hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vermeulen T,
|
||
Van de Velde M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Anaesthesiol</span>
|
||
2022 Dec;36(3-4):399-410.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1016/j.bpa.2022.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36513434" target="_blank">36513434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35290265">Role of Fibrinogen in Trauma-Induced Coagulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meizoso JP,
|
||
Moore EE,
|
||
Pieracci FM,
|
||
Saberi RA,
|
||
Ghasabyan A,
|
||
Chandler J,
|
||
Namias N,
|
||
Sauaia A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Surg</span>
|
||
2022 Apr 1;234(4):465-473.
|
||
doi: 10.1097/XCS.0000000000000078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35290265" target="_blank">35290265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32603068">Blood Product Transfusion in Adults: Indications, Adverse Reactions, and Modifications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raval JS,
|
||
Griggs JR,
|
||
Fleg A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2020 Jul 1;102(1):30-38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32603068" target="_blank">32603068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505639">Unpredicted late-, new-onset thrombocytopenia and hypofibrinogenemia in Fab antivenom-treated rattlesnake envenomation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seifert SA,
|
||
Mascarenas DN,
|
||
Fullerton L,
|
||
Warrick BJ,
|
||
Smolinske SC</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2020 Sep;184:55-56.
|
||
Epub 2020 Jun 4
|
||
doi: 10.1016/j.toxicon.2020.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505639" target="_blank">32505639</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypofibrinogenemia%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 (234)</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/37545264">The risk factors for coagulation disorder of chimeric antigen receptor-T cell therapy in patients with hematological tumors: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia Y,
|
||
Tang L,
|
||
Hu Y</span><br />
|
||
<span class="medgenPMjournal">Technol Health Care</span>
|
||
2023;31(6):2363-2380.
|
||
doi: 10.3233/THC-220537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37545264" target="_blank">37545264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32153133">Viscoelastic haemostatic assays and fibrinogen in paediatric acute traumatic coagulopathy: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maconachie S,
|
||
Jansen M,
|
||
Cottle E,
|
||
Roy J,
|
||
Ross B,
|
||
Winearls J,
|
||
George S</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Australas</span>
|
||
2020 Apr;32(2):313-319.
|
||
Epub 2020 Mar 9
|
||
doi: 10.1111/1742-6723.13484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32153133" target="_blank">32153133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30758508">Does This Patient Have a Severe Snake Envenomation?: The Rational Clinical Examination Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerardo CJ,
|
||
Vissoci JRN,
|
||
Evans CS,
|
||
Simel DL,
|
||
Lavonas EJ</span><br />
|
||
<span class="medgenPMjournal">JAMA Surg</span>
|
||
2019 Apr 1;154(4):346-354.
|
||
doi: 10.1001/jamasurg.2018.5069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30758508" target="_blank">30758508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28211264">Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casini A,
|
||
Brungs T,
|
||
Lavenu-Bombled C,
|
||
Vilar R,
|
||
Neerman-Arbez M,
|
||
de Moerloose P</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2017 May;15(5):876-888.
|
||
Epub 2017 Mar 6
|
||
doi: 10.1111/jth.13655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28211264" target="_blank">28211264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21711446">Fibrinogen replacement therapy for congenital fibrinogen deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bornikova L,
|
||
Peyvandi F,
|
||
Allen G,
|
||
Bernstein J,
|
||
Manco-Johnson MJ</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2011 Sep;9(9):1687-704.
|
||
doi: 10.1111/j.1538-7836.2011.04424.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21711446" target="_blank">21711446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypofibrinogenemia%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 (6)</a></div></div>
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|
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<li><a href="/gtr/tests?term=C0553681%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
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<li><a href="/gtr/tests?term=C0553681%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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