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<meta name="keywords" content="C0240671, abnormal partial thromboplastin time, delayed thromboplastin generation, finding, partial thromboplastin time increased, partial thromboplastin time prolonged, prolonged activated partial thromboplastin time, prolonged partial thromboplastin time, prolonged ptt, ptt prolonged, 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="Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=66815
|
||
ConceptID=C0240671
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Prolonged partial thromboplastin time</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66815</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.">C0240671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Prolonged activated partial thromboplastin time; Prolonged PTT; PTT prolonged</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Partial thromboplastin time increased (409675001)</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:0003645">HP:0003645</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. [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>
|
||
<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=C0240671[DISCUI]&test_type=Clinical" ref="ncbi_uid=66815">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">Prolonged partial thromboplastin time</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="matched_ds">Prolonged partial thromboplastin time</span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<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_4633"><div><strong>Congenital factor V deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4633</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.">C0015499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4633">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_8770"><div><strong>Hereditary factor XI deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8770</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.">C0015523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. On the basis of the concordance or discordance of F11 antigen and activity, the disorder is classified into the more frequent cross-reactive negative (CRM-) and the rarer CRM positive (CRM+) (summary by Duga and Salomon, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8770">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_8772"><div><strong>Factor XII deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8772</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.">C0015526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary factor XII deficiency is clinically asymptomatic but results in prolonged activated partial thromboplastin time (APTT). Typically, homozygous or compound heterozygous carriers exhibit almost no (less than 1%) factor XII activity as compared with normal individuals, whereas heterozygotes display intermediate activity. Most of these individuals also lack immunologically detectable factor XII and are referred to as cross-reacting material (CRM)-negative (summary by Kondo et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8772">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_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">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_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_75780"><div><strong>High molecular weight kininogen deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75780</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.">C0272340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait, and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits represent total kininogen deficiency, in which both HMWK and low molecular weight kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (612358) (Bick, 2002; Takagaki et al., 1985).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</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.">C0349653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324784"><div><strong>Congenital disorder of glycosylation type 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324784</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.">C1837396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a discussion of the classification of CDGs, see CDG Ia (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334618"><div><strong>ALG2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334618</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.">C1842836</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 Ii (CDG1I) is a rare autosomal recessive disorder characterized by neurologic involvement, including a convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression (summary by Papazoglu et al., 2021). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334618">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_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_339908"><div><strong>Noonan syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339908</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.">C1853120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339908">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387801"><div><strong>Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387801</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.">C1857355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387801">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388039"><div><strong>Congenital bile acid synthesis defect 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388039</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.">C1858328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388039">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395227"><div><strong>Celiac disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395227</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.">C1859310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395227">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396074"><div><strong>Thrombophilia due to activated protein C resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396074</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.">C1861171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number of factor V Leiden variant alleles (homozygotes have a much greater thrombotic risk); family history of VTE; presence of coexisting genetic thrombophilic disorders; acquired thrombophilic disorders (e.g., antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders); and circumstantial risk factors (e.g., pregnancy, malignancy, central venous catheters, travel, combined oral contraceptive use and other combined contraceptives, oral hormone replacement therapy [HRT], obesity, leg injury, and advancing age).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396074">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382811"><div><strong>Bone fragility with contractures, arterial rupture, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382811</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.">C2676285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414536"><div><strong>PGM1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414536</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.">C2752015</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 It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443954"><div><strong>ALG12-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443954</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.">C2931001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by Tahata et al., 2019). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443954">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419310"><div><strong>B4GALT1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419310</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.">C2931009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419310">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902892"><div><strong>Noonan syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902892</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.">C4225280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902892">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904751"><div><strong>Congenital bile acid synthesis defect 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904751</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.">C4225390</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904751">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1382656"><div><strong>Developmental and epileptic encephalopathy, 36</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382656</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.">C4317295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-36 (DEE36) is an X-linked neurodevelopmental disorder characterized by the onset of seizures at a mean age of 6.5 months. Most patients present with infantile spasms associated with hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome. The seizures tend to be refractory to treatment, although some patients may respond to benzodiazepines or a ketogenic diet. Affected individuals have severely delayed psychomotor development with poor motor function, severe intellectual disability, poor or absent speech, and limited eye contact. More variable features include feeding difficulties sometimes requiring tube feeding, ocular defects including cortical visual impairment, dysmorphic facial features, and scoliosis or osteopenia. The vast majority of patients reported have been females, although rare affected males with a similar phenotype have been described. Most patients show normal N-glycosylation on transferrin isoelectric focusing, but some show abnormal N-glycosylation consistent with CDG type I (summary by Ng et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1382656">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_1634617"><div><strong>Shwachman-Diamond syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634617</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.">C4693704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634617">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_1824084"><div><strong>Cholestasis, progressive familial intrahepatic, 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824084</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.">C5774311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-12 (PFIC12) is characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. Transaminases are mildly elevated but GGT (see 612346) is normal. Hepatosplenomegaly and mildly prolonged activated partial thromboplastin time (APTT) have been observed in some patients (Qiu et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824084">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_987194"><div><strong>Inherited prekallikrein deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>987194</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN305372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prekallikrein deficiency (PKKD) is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time (summary by Saito et al., 1981).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/987194">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG12-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B4GALT1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone fragility with contractures, arterial rupture, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Celiac disease, susceptibility to, 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324784" 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 1E</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_4633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital factor V deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</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_1382656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 36</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor XII deficiency disease</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_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="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_8770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor XI deficiency disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High molecular weight kininogen deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_987194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inherited prekallikrein deficiency</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_902892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PGM1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shwachman-Diamond syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombophilia due to activated protein C resistance</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</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></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/31027837">Higher mortality in pediatric and adult trauma patients with traumatic coagulopathy, using age-adjusted diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reed CR,
|
||
Williamson H,
|
||
Vatsaas C,
|
||
Kamyszek R,
|
||
Leraas HJ,
|
||
Ray C,
|
||
Otto J,
|
||
Fitzgerald T,
|
||
Agarwal S,
|
||
Tracy ET</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2019 Jun;165(6):1108-1115.
|
||
Epub 2019 Apr 23
|
||
doi: 10.1016/j.surg.2019.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31027837" target="_blank">31027837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11128672">Prevalence of antibodies to beta2-glycoprotein I in systemic lupus erythematosus and their association with antiphospholipid antibody syndrome criteria: a single center study and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruce IN,
|
||
Clark-Soloninka CA,
|
||
Spitzer KA,
|
||
Gladman DD,
|
||
Urowitz MB,
|
||
Laskin CA</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2000 Dec;27(12):2833-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11128672" target="_blank">11128672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7977544">Acute fatty liver of pregnancy: an experience in the diagnosis and management of fourteen cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Usta IM,
|
||
Barton JR,
|
||
Amon EA,
|
||
Gonzalez A,
|
||
Sibai BM</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1994 Nov;171(5):1342-7.
|
||
doi: 10.1016/0002-9378(94)90158-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7977544" target="_blank">7977544</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22prolonged%20partial%20thromboplastin%20time%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 (6)</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/37195992">C-reactive protein: An easy marker for early differentiation between leptospirosis and dengue fever in endemic area.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillard O,
|
||
Hirschinger D,
|
||
Bénéteau S,
|
||
Koumar Y,
|
||
Vague A,
|
||
Girerd R,
|
||
DiAscia L,
|
||
Jabot J,
|
||
Cousty J,
|
||
Randrianjohany A,
|
||
Bertolotti A,
|
||
Raffray L</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285900.
|
||
Epub 2023 May 17
|
||
doi: 10.1371/journal.pone.0285900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195992" target="_blank">37195992</a><a href="/pmc/articles/PMC10191341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35690822">Clinical applications of machine learning in the survival prediction and classification of sepsis: coagulation and heparin usage matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
|
||
Zhu X,
|
||
Wu Z,
|
||
Zhu L,
|
||
Wu J,
|
||
Zhang F</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Jun 11;20(1):265.
|
||
doi: 10.1186/s12967-022-03469-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35690822" target="_blank">35690822</a><a href="/pmc/articles/PMC9187899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12972821">Prolonged partial thromboplastin times in children with fever and petechiae without bacteremia or sepsis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willwerth BM,
|
||
Harper MB,
|
||
Mandl KD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Emerg Care</span>
|
||
2003 Aug;19(4):244-7.
|
||
doi: 10.1097/01.pec.0000086233.54586.87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12972821" target="_blank">12972821</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11437875">Effects of temperature on partial thromboplastin time in heparinized plasma in vitro.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felfernig M,
|
||
Blaicher A,
|
||
Kettner SC,
|
||
Felfernig D,
|
||
Acimovic S,
|
||
Kozek-Langenecker SA</span><br />
|
||
<span class="medgenPMjournal">Eur J Anaesthesiol</span>
|
||
2001 Jul;18(7):467-70.
|
||
doi: 10.1046/j.1365-2346.2001.00869.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11437875" target="_blank">11437875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7352719">Thrombosis in patients with the lupus anticoagulant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mueh JR,
|
||
Herbst KD,
|
||
Rapaport SI</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
1980 Feb;92(2 Pt 1):156-9.
|
||
doi: 10.7326/0003-4819-92-2-156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7352719" target="_blank">7352719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20partial%20thromboplastin%20time%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 (40)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195992">C-reactive protein: An easy marker for early differentiation between leptospirosis and dengue fever in endemic area.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillard O,
|
||
Hirschinger D,
|
||
Bénéteau S,
|
||
Koumar Y,
|
||
Vague A,
|
||
Girerd R,
|
||
DiAscia L,
|
||
Jabot J,
|
||
Cousty J,
|
||
Randrianjohany A,
|
||
Bertolotti A,
|
||
Raffray L</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285900.
|
||
Epub 2023 May 17
|
||
doi: 10.1371/journal.pone.0285900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195992" target="_blank">37195992</a><a href="/pmc/articles/PMC10191341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30497857">Prolonged partial thromboplastin time: To mix or not to mix - is that the question?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yates SG,
|
||
Fitts E,
|
||
De Simone N,
|
||
Sarode R</span><br />
|
||
<span class="medgenPMjournal">Transfus Apher Sci</span>
|
||
2019 Feb;58(1):39-42.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1016/j.transci.2018.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30497857" target="_blank">30497857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28030967">Factor X Friuli Coagulation Disorder: Almost 50 Years Later.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girolami A,
|
||
Cosi E,
|
||
Santarossa C,
|
||
Ferrari S,
|
||
Girolami B,
|
||
Lombardi AM</span><br />
|
||
<span class="medgenPMjournal">Clin Appl Thromb Hemost</span>
|
||
2018 Jan;24(1):33-40.
|
||
Epub 2016 Dec 29
|
||
doi: 10.1177/1076029616686423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28030967" target="_blank">28030967</a><a href="/pmc/articles/PMC6714644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6813513">The lupus anticoagulant in 14 male patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waddell CC,
|
||
Brown JA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1982 Nov 19;248(19):2493-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6813513" target="_blank">6813513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7352719">Thrombosis in patients with the lupus anticoagulant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mueh JR,
|
||
Herbst KD,
|
||
Rapaport SI</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
1980 Feb;92(2 Pt 1):156-9.
|
||
doi: 10.7326/0003-4819-92-2-156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7352719" target="_blank">7352719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20partial%20thromboplastin%20time%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38521219">Medical History and Preoperative Coagulation Profile as Predictors of Outcomes in Elective Spinal Surgery: A Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichardo-Rojas PS,
|
||
Calvillo-Ramirez A,
|
||
Del Rio-Martinez CJ,
|
||
Fukumoto-Inukai KA,
|
||
Gonzalez-Hernandez D,
|
||
Casas-Huesca AP,
|
||
Villarreal-Guerrero C,
|
||
Shah S</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2024 May;185:e1294-e1308.
|
||
Epub 2024 Mar 22
|
||
doi: 10.1016/j.wneu.2024.03.074.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38521219" target="_blank">38521219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35690822">Clinical applications of machine learning in the survival prediction and classification of sepsis: coagulation and heparin usage matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
|
||
Zhu X,
|
||
Wu Z,
|
||
Zhu L,
|
||
Wu J,
|
||
Zhang F</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Jun 11;20(1):265.
|
||
doi: 10.1186/s12967-022-03469-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35690822" target="_blank">35690822</a><a href="/pmc/articles/PMC9187899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25951751">Hypofibrinogenemia induced by tigecycline: a potentially life-threatening coagulation disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabanis N,
|
||
Paschou E,
|
||
Gavriilaki E,
|
||
Kalaitzoglou A,
|
||
Vasileiou S</span><br />
|
||
<span class="medgenPMjournal">Infect Dis (Lond)</span>
|
||
2015;47(10):743-6.
|
||
Epub 2015 May 8
|
||
doi: 10.3109/23744235.2015.1043942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25951751" target="_blank">25951751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17911199">Acquired hemophilia: a case report of 2 patients with acquired factor VIII inhibitor treated with rituximab plus a short course of steroid and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alvarado Y,
|
||
Yao X,
|
||
Jumper C,
|
||
Hardwicke F,
|
||
D'Cunha N,
|
||
Cobos E</span><br />
|
||
<span class="medgenPMjournal">Clin Appl Thromb Hemost</span>
|
||
2007 Oct;13(4):443-8.
|
||
doi: 10.1177/1076029607303777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17911199" target="_blank">17911199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8438192">The impact of operative bleeding on outcome in transplantation of the liver.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mor E,
|
||
Jennings L,
|
||
Gonwa TA,
|
||
Holman MJ,
|
||
Gibbs J,
|
||
Solomon H,
|
||
Goldstein RM,
|
||
Husberg BS,
|
||
Watemberg IA,
|
||
Klintmalm GB</span><br />
|
||
<span class="medgenPMjournal">Surg Gynecol Obstet</span>
|
||
1993 Mar;176(3):219-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8438192" target="_blank">8438192</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20partial%20thromboplastin%20time%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 (35)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39082158">Assessing the impact of severe acute respiratory syndrome coronavirus 2 infection on hematological parameters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alotaibi BA,
|
||
Aldali JA,
|
||
Aldali HJ,
|
||
Alaseem A,
|
||
Almuqrin AM,
|
||
Alshalani A,
|
||
AlSudais H,
|
||
Alshehri NA,
|
||
Alamar NB,
|
||
Alhejji MA</span><br />
|
||
<span class="medgenPMjournal">Trans R Soc Trop Med Hyg</span>
|
||
2024 Dec 3;118(12):773-780.
|
||
doi: 10.1093/trstmh/trae047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39082158" target="_blank">39082158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195992">C-reactive protein: An easy marker for early differentiation between leptospirosis and dengue fever in endemic area.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillard O,
|
||
Hirschinger D,
|
||
Bénéteau S,
|
||
Koumar Y,
|
||
Vague A,
|
||
Girerd R,
|
||
DiAscia L,
|
||
Jabot J,
|
||
Cousty J,
|
||
Randrianjohany A,
|
||
Bertolotti A,
|
||
Raffray L</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285900.
|
||
Epub 2023 May 17
|
||
doi: 10.1371/journal.pone.0285900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195992" target="_blank">37195992</a><a href="/pmc/articles/PMC10191341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35690822">Clinical applications of machine learning in the survival prediction and classification of sepsis: coagulation and heparin usage matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
|
||
Zhu X,
|
||
Wu Z,
|
||
Zhu L,
|
||
Wu J,
|
||
Zhang F</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Jun 11;20(1):265.
|
||
doi: 10.1186/s12967-022-03469-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35690822" target="_blank">35690822</a><a href="/pmc/articles/PMC9187899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31027837">Higher mortality in pediatric and adult trauma patients with traumatic coagulopathy, using age-adjusted diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reed CR,
|
||
Williamson H,
|
||
Vatsaas C,
|
||
Kamyszek R,
|
||
Leraas HJ,
|
||
Ray C,
|
||
Otto J,
|
||
Fitzgerald T,
|
||
Agarwal S,
|
||
Tracy ET</span><br />
|
||
<span class="medgenPMjournal">Surgery</span>
|
||
2019 Jun;165(6):1108-1115.
|
||
Epub 2019 Apr 23
|
||
doi: 10.1016/j.surg.2019.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31027837" target="_blank">31027837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1850439">Herpes simplex virus hepatitis after solid organ transplantation in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kusne S,
|
||
Schwartz M,
|
||
Breinig MK,
|
||
Dummer JS,
|
||
Lee RE,
|
||
Selby R,
|
||
Starzl TE,
|
||
Simmons RL,
|
||
Ho M</span><br />
|
||
<span class="medgenPMjournal">J Infect Dis</span>
|
||
1991 May;163(5):1001-7.
|
||
doi: 10.1093/infdis/163.5.1001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1850439" target="_blank">1850439</a><a href="/pmc/articles/PMC2956417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20partial%20thromboplastin%20time%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39082158">Assessing the impact of severe acute respiratory syndrome coronavirus 2 infection on hematological parameters.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alotaibi BA,
|
||
Aldali JA,
|
||
Aldali HJ,
|
||
Alaseem A,
|
||
Almuqrin AM,
|
||
Alshalani A,
|
||
AlSudais H,
|
||
Alshehri NA,
|
||
Alamar NB,
|
||
Alhejji MA</span><br />
|
||
<span class="medgenPMjournal">Trans R Soc Trop Med Hyg</span>
|
||
2024 Dec 3;118(12):773-780.
|
||
doi: 10.1093/trstmh/trae047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39082158" target="_blank">39082158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37195992">C-reactive protein: An easy marker for early differentiation between leptospirosis and dengue fever in endemic area.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillard O,
|
||
Hirschinger D,
|
||
Bénéteau S,
|
||
Koumar Y,
|
||
Vague A,
|
||
Girerd R,
|
||
DiAscia L,
|
||
Jabot J,
|
||
Cousty J,
|
||
Randrianjohany A,
|
||
Bertolotti A,
|
||
Raffray L</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285900.
|
||
Epub 2023 May 17
|
||
doi: 10.1371/journal.pone.0285900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37195992" target="_blank">37195992</a><a href="/pmc/articles/PMC10191341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35690822">Clinical applications of machine learning in the survival prediction and classification of sepsis: coagulation and heparin usage matter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
|
||
Zhu X,
|
||
Wu Z,
|
||
Zhu L,
|
||
Wu J,
|
||
Zhang F</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Jun 11;20(1):265.
|
||
doi: 10.1186/s12967-022-03469-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35690822" target="_blank">35690822</a><a href="/pmc/articles/PMC9187899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11437875">Effects of temperature on partial thromboplastin time in heparinized plasma in vitro.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felfernig M,
|
||
Blaicher A,
|
||
Kettner SC,
|
||
Felfernig D,
|
||
Acimovic S,
|
||
Kozek-Langenecker SA</span><br />
|
||
<span class="medgenPMjournal">Eur J Anaesthesiol</span>
|
||
2001 Jul;18(7):467-70.
|
||
doi: 10.1046/j.1365-2346.2001.00869.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11437875" target="_blank">11437875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2665012">Hemostasis and the complement system in Argentine hemorrhagic fever.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molinas FC,
|
||
de Bracco MM,
|
||
Maiztegui JI</span><br />
|
||
<span class="medgenPMjournal">Rev Infect Dis</span>
|
||
1989 May-Jun;11 Suppl 4:S762-70.
|
||
doi: 10.1093/clinids/11.supplement_4.s762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2665012" target="_blank">2665012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20partial%20thromboplastin%20time%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 (27)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0240671%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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