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<meta name="keywords" content="C0853225, finding, increased inr, increased international normalised ratio, increased international normalized ratio, inr (international normalized ratio) above reference range, inr (international normalized ratio) raised, inr increased, international normalized ratio above reference range, international normalized ratio increased, low factor ii activity, prolonged prothrombin time, prolonged pt, reduced factor ii activity, reduced prothrombin activity, 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 prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=208879
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ConceptID=C0853225
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Prolonged prothrombin time</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208879</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.">C0853225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>increased international normalized ratio; Low factor II activity; Reduced factor II activity; Reduced prothrombin activity</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>International normalized ratio above reference range (313341008); INR (international normalized ratio) above reference range (313341008); INR (international normalized ratio) raised (313341008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0008151">HP:0008151</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula [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 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="TLline">Prolonged prothrombin time</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/233128" ref="tree=MeSH" title="MedGen record for Abnormal Blood Chemistry and Hematology Test Result">Abnormal Blood Chemistry and Hematology Test Result</a></span><ul><li><span class="matched_ds">Prolonged prothrombin time</span></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>
|
||
<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_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_75692"><div><strong>Ornithine carbamoyltransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75692</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.">C0268542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but become symptomatic from hyperammonemia in the first week of life, most often on day two to three of life, and are usually catastrophically ill by the time they come to medical attention. After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment; they typically require liver transplant to improve quality of life. Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, a hyperammonemic crisis can be precipitated by stressors and become a life-threatening event at any age and in any situation in life. For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75692">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_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_332067"><div><strong>Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332067</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.">C1835813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332067">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_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_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>
|
||
<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_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_462497"><div><strong>Congenital bile acid synthesis defect 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462497</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.">C3151147</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-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_480294"><div><strong>Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480294</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.">C3278664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infants with untreated TRMU deficiency, a mitochondrial disorder, typically become symptomatic between ages two and four months with transient acute liver dysfunction (including elevated transaminases, abnormal synthetic functions, and/or hepatomegaly), metabolic derangements (severe persistent lactic acidosis, hypoglycemia, hyperammonemia), and poor weight gain. With proper supportive treatment (but not disease-targeted therapy), abnormal liver findings (including coagulopathy) improve or normalize. Likewise, metabolic derangements improve. However, other manifestations typical of a mitochondrial disorder such as persistent lactic acidosis, neurologic dysfunction (including developmental delay / intellectual disability and seizures), cardiomyopathy, and respiratory failure may persist or develop or over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480294">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815981"><div><strong>Infantile liver failure syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815981</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.">C3809651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile liver failure syndrome-2 (ILFS2) is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015). For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815981">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896352"><div><strong>Noonan syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896352</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.">C4225282</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/896352">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934714"><div><strong>Cholestasis, progressive familial intrahepatic, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934714</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.">C4310747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934714">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_1632232"><div><strong>Adenosine kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632232</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.">C4706555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypermethioninemia due to adenosine kinase deficiency is an autosomal recessive inborn error of metabolism characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine (AdoMet) and S-adenosylhomocysteine (AdoHcy); homocysteine is typically normal (summary by Bjursell et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675208"><div><strong>Combined oxidative phosphorylation deficiency 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675208</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.">C5193031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675208">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684678"><div><strong>Infantile liver failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684678</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.">C5231437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by Cousin et al., 2019). For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1745691"><div><strong>Mitochondrial complex 4 deficiency, nuclear type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745691</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.">C5436695</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 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014). 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/1745691">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_1810214"><div><strong>3-methylglutaconic aciduria, type VIIB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810214</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.">C5676893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CLPB (caseinolytic peptidase B) deficiency is characterized by neurologic involvement and neutropenia, which can range from severe to mild. In severe CLPB deficiency, death usually occurs at a few months of age due to significant neonatal neurologic involvement (hyperekplexia or absence of voluntary movements, hypotonia or hypertonia, swallowing problems, respiratory insufficiency, and epilepsy) and severe neutropenia associated with life-threatening infections. Individuals with moderate CLPB deficiency present with neurologic abnormalities in infancy including hypotonia and feeding problems, and develop spasticity, a progressive movement disorder (ataxia, dystonia, and/or dyskinesia), epilepsy, and intellectual disability. Neutropenia is variable, but not life threatening. In those with mild CLPB deficiency there is no neurologic involvement, intellect is normal, neutropenia is mild and intermittent, and life expectancy is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1857440"><div><strong>Proteasome-associated autoinflammatory syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857440</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.">C5935614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-6 (PRAAS6) is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency (Kanazawa et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857440">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylglutaconic aciduria, type VIIB</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_480294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adenosine kinase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency</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 (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462497" 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 3</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_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_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_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>
|
||
<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_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_815981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile liver failure syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile liver failure syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1745691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 4 deficiency, nuclear type 12</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_896352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ornithine carbamoyltransferase deficiency</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_1857440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 6</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_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/35589251">Haemostatic alterations and management of haemostasis in patients with cirrhosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lisman T,
|
||
Caldwell SH,
|
||
Intagliata NM</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2022 Jun;76(6):1291-1305.
|
||
doi: 10.1016/j.jhep.2021.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35589251" target="_blank">35589251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33860520">Management of Disseminated Intravascular Coagulation in Acute Leukemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ten Cate H,
|
||
Leader A</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2021 Apr;41(2):120-126.
|
||
Epub 2021 Apr 15
|
||
doi: 10.1055/a-1393-8302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33860520" target="_blank">33860520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19222477">Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levi M,
|
||
Toh CH,
|
||
Thachil J,
|
||
Watson HG</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2009 Apr;145(1):24-33.
|
||
Epub 2009 Feb 12
|
||
doi: 10.1111/j.1365-2141.2009.07600.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19222477" target="_blank">19222477</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22prolonged%20prothrombin%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 (27)</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/37183883">Future directions in acute liver failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stravitz RT,
|
||
Fontana RJ,
|
||
Karvellas C,
|
||
Durkalski V,
|
||
McGuire B,
|
||
Rule JA,
|
||
Tujios S,
|
||
Lee WM;
|
||
Acute Liver Failure Study Group</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Oct 1;78(4):1266-1289.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183883" target="_blank">37183883</a><a href="/pmc/articles/PMC10521792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33860520">Management of Disseminated Intravascular Coagulation in Acute Leukemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ten Cate H,
|
||
Leader A</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2021 Apr;41(2):120-126.
|
||
Epub 2021 Apr 15
|
||
doi: 10.1055/a-1393-8302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33860520" target="_blank">33860520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32031570">Clinical Characteristics of 138 Hospitalized Patients With 2019 Novel Coronavirus-Infected Pneumonia in Wuhan, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang D,
|
||
Hu B,
|
||
Hu C,
|
||
Zhu F,
|
||
Liu X,
|
||
Zhang J,
|
||
Wang B,
|
||
Xiang H,
|
||
Cheng Z,
|
||
Xiong Y,
|
||
Zhao Y,
|
||
Li Y,
|
||
Wang X,
|
||
Peng Z</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2020 Mar 17;323(11):1061-1069.
|
||
doi: 10.1001/jama.2020.1585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32031570" target="_blank">32031570</a><a href="/pmc/articles/PMC7042881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19222477">Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levi M,
|
||
Toh CH,
|
||
Thachil J,
|
||
Watson HG</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2009 Apr;145(1):24-33.
|
||
Epub 2009 Feb 12
|
||
doi: 10.1111/j.1365-2141.2009.07600.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19222477" target="_blank">19222477</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11564966">Terbinafine-induced hepatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chambers WM,
|
||
Millar A,
|
||
Jain S,
|
||
Burroughs AK</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2001 Sep;13(9):1115-8.
|
||
doi: 10.1097/00042737-200109000-00021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11564966" target="_blank">11564966</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20prothrombin%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 (327)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183883">Future directions in acute liver failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stravitz RT,
|
||
Fontana RJ,
|
||
Karvellas C,
|
||
Durkalski V,
|
||
McGuire B,
|
||
Rule JA,
|
||
Tujios S,
|
||
Lee WM;
|
||
Acute Liver Failure Study Group</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Oct 1;78(4):1266-1289.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183883" target="_blank">37183883</a><a href="/pmc/articles/PMC10521792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33860520">Management of Disseminated Intravascular Coagulation in Acute Leukemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ten Cate H,
|
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Leader A</span><br />
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<span class="medgenPMjournal">Hamostaseologie</span>
|
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2021 Apr;41(2):120-126.
|
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Epub 2021 Apr 15
|
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doi: 10.1055/a-1393-8302.
|
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<span class="bold">PMID: </span><a href="/pubmed/33860520" target="_blank">33860520</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32031570">Clinical Characteristics of 138 Hospitalized Patients With 2019 Novel Coronavirus-Infected Pneumonia in Wuhan, China.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang D,
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Hu B,
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Hu C,
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Zhu F,
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Liu X,
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Zhang J,
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Wang B,
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Xiang H,
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Cheng Z,
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Xiong Y,
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Zhao Y,
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Li Y,
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Wang X,
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Peng Z</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2020 Mar 17;323(11):1061-1069.
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<span class="bold">PMID: </span><a href="/pubmed/32031570" target="_blank">32031570</a><a href="/pmc/articles/PMC7042881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/19222477">Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Levi M,
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Toh CH,
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Thachil J,
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Watson HG</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
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2009 Apr;145(1):24-33.
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Epub 2009 Feb 12
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<span class="bold">PMID: </span><a href="/pubmed/19222477" target="_blank">19222477</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11564966">Terbinafine-induced hepatic dysfunction.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chambers WM,
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Millar A,
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Jain S,
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Burroughs AK</span><br />
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<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
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2001 Sep;13(9):1115-8.
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<span class="bold">PMID: </span><a href="/pubmed/11564966" target="_blank">11564966</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20prothrombin%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 (313)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183883">Future directions in acute liver failure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stravitz RT,
|
||
Fontana RJ,
|
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Karvellas C,
|
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Durkalski V,
|
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McGuire B,
|
||
Rule JA,
|
||
Tujios S,
|
||
Lee WM;
|
||
Acute Liver Failure Study Group</span><br />
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<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Oct 1;78(4):1266-1289.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183883" target="_blank">37183883</a><a href="/pmc/articles/PMC10521792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35589251">Haemostatic alterations and management of haemostasis in patients with cirrhosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lisman T,
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Caldwell SH,
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Intagliata NM</span><br />
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<span class="medgenPMjournal">J Hepatol</span>
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2022 Jun;76(6):1291-1305.
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doi: 10.1016/j.jhep.2021.11.004.
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<span class="bold">PMID: </span><a href="/pubmed/35589251" target="_blank">35589251</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32445489">COVID-19 and liver dysfunction: A systematic review and meta-analysis of retrospective studies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Youssef M,
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H Hussein M,
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Attia AS,
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M Elshazli R,
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Omar M,
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Zora G,
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S Farhoud A,
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Elnahla A,
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Shihabi A,
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Toraih EA,
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S Fawzy M,
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Kandil E</span><br />
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<span class="medgenPMjournal">J Med Virol</span>
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2020 Oct;92(10):1825-1833.
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Epub 2020 Jul 27
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<span class="bold">PMID: </span><a href="/pubmed/32445489" target="_blank">32445489</a><a href="/pmc/articles/PMC7283797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19222477">Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levi M,
|
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Toh CH,
|
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Thachil J,
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Watson HG</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
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2009 Apr;145(1):24-33.
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Epub 2009 Feb 12
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doi: 10.1111/j.1365-2141.2009.07600.x.
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<span class="bold">PMID: </span><a href="/pubmed/19222477" target="_blank">19222477</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11564966">Terbinafine-induced hepatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chambers WM,
|
||
Millar A,
|
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Jain S,
|
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Burroughs AK</span><br />
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<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
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2001 Sep;13(9):1115-8.
|
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doi: 10.1097/00042737-200109000-00021.
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<span class="bold">PMID: </span><a href="/pubmed/11564966" target="_blank">11564966</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20prothrombin%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 (263)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183883">Future directions in acute liver failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stravitz RT,
|
||
Fontana RJ,
|
||
Karvellas C,
|
||
Durkalski V,
|
||
McGuire B,
|
||
Rule JA,
|
||
Tujios S,
|
||
Lee WM;
|
||
Acute Liver Failure Study Group</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2023 Oct 1;78(4):1266-1289.
|
||
Epub 2023 May 16
|
||
doi: 10.1097/HEP.0000000000000458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183883" target="_blank">37183883</a><a href="/pmc/articles/PMC10521792" 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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
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Zhu X,
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Wu Z,
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Zhu L,
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Wu J,
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Zhang F</span><br />
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<span class="medgenPMjournal">J Transl Med</span>
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2022 Jun 11;20(1):265.
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doi: 10.1186/s12967-022-03469-6.
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<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>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/15357793">Acquired inhibitor of factor V: first report in China and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lu L,
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Liu Y,
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Wei J,
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Zhang L,
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Zhang L,
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Yang R</span><br />
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<span class="medgenPMjournal">Haemophilia</span>
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2004 Sep;10(5):661-4.
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doi: 10.1111/j.1365-2516.2004.01014.x.
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<span class="bold">PMID: </span><a href="/pubmed/15357793" target="_blank">15357793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11564966">Terbinafine-induced hepatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chambers WM,
|
||
Millar A,
|
||
Jain S,
|
||
Burroughs AK</span><br />
|
||
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
|
||
2001 Sep;13(9):1115-8.
|
||
doi: 10.1097/00042737-200109000-00021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11564966" target="_blank">11564966</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8465712">Alcoholic hepatitis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Woods SE,
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Hitchcock M,
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Meyer A</span><br />
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<span class="medgenPMjournal">Am Fam Physician</span>
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1993 Apr;47(5):1171-8.
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<span class="bold">PMID: </span><a href="/pubmed/8465712" target="_blank">8465712</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20prothrombin%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 (241)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guo F,
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Zhu X,
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Wu Z,
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Zhu L,
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Wu J,
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Zhang F</span><br />
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<span class="medgenPMjournal">J Transl Med</span>
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2022 Jun 11;20(1):265.
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doi: 10.1186/s12967-022-03469-6.
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<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>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34228395">An evaluation of the Japanese Society on Thrombosis and Hemostasis criteria for disseminated intravascular coagulation as a predictor of prognosis in patients with infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Madoiwa S,
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Honda G,
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Kawano N,
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Uchiyama T,
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Kawasugi K,
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Takezako N,
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Suzuki K,
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Seki Y,
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Ikezoe T,
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Okamoto K,
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Wada H</span><br />
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Epub 2021 Jul 6
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<span class="bold">PMID: </span><a href="/pubmed/34228395" target="_blank">34228395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33860520">Management of Disseminated Intravascular Coagulation in Acute Leukemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ten Cate H,
|
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Leader A</span><br />
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<span class="medgenPMjournal">Hamostaseologie</span>
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2021 Apr;41(2):120-126.
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Epub 2021 Apr 15
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doi: 10.1055/a-1393-8302.
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<span class="bold">PMID: </span><a href="/pubmed/33860520" target="_blank">33860520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19222477">Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levi M,
|
||
Toh CH,
|
||
Thachil J,
|
||
Watson HG</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2009 Apr;145(1):24-33.
|
||
Epub 2009 Feb 12
|
||
doi: 10.1111/j.1365-2141.2009.07600.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19222477" target="_blank">19222477</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17408305">Drug-induced liver injury.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abboud G,
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Kaplowitz N</span><br />
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<span class="medgenPMjournal">Drug Saf</span>
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doi: 10.2165/00002018-200730040-00001.
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<span class="bold">PMID: </span><a href="/pubmed/17408305" target="_blank">17408305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20prothrombin%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 (210)</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/34325760">Hyperemesis gravidarum and vitamin K deficiency: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nijsten K,
|
||
van der Minnen L,
|
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Wiegers HMG,
|
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Koot MH,
|
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Middeldorp S,
|
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Roseboom TJ,
|
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Grooten IJ,
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Painter RC</span><br />
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<span class="medgenPMjournal">Br J Nutr</span>
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2022 Jul 14;128(1):30-42.
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Epub 2021 Jul 30
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doi: 10.1017/S0007114521002865.
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||
<span class="bold">PMID: </span><a href="/pubmed/34325760" target="_blank">34325760</a><a href="/pmc/articles/PMC9279941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32860672">Early coagulation tests predict risk stratification and prognosis of COVID-19.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Luo L,
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Xu M,
|
||
Du M,
|
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Kou H,
|
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Liao D,
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Cheng Z,
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Mei H,
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Hu Y</span><br />
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<span class="medgenPMjournal">Aging (Albany NY)</span>
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2020 Aug 29;12(16):15918-15937.
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doi: 10.18632/aging.103581.
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<span class="bold">PMID: </span><a href="/pubmed/32860672" target="_blank">32860672</a><a href="/pmc/articles/PMC7485702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32822430">Diagnostic and prognostic value of hematological and immunological markers in COVID-19 infection: A meta-analysis of 6320 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Elshazli RM,
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Toraih EA,
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Elgaml A,
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El-Mowafy M,
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El-Mesery M,
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Amin MN,
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Hussein MH,
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Killackey MT,
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Fawzy MS,
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Kandil E</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2020;15(8):e0238160.
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Epub 2020 Aug 21
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<span class="bold">PMID: </span><a href="/pubmed/32822430" target="_blank">32822430</a><a href="/pmc/articles/PMC7446892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32679593">Prevalence and Impact of Coagulation Dysfunction in COVID-19 in China: A Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jin S,
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Jin Y,
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Xu B,
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Hong J,
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Yang X</span><br />
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<span class="medgenPMjournal">Thromb Haemost</span>
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2020 Nov;120(11):1524-1535.
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Epub 2020 Jul 17
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||
doi: 10.1055/s-0040-1714369.
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||
<span class="bold">PMID: </span><a href="/pubmed/32679593" target="_blank">32679593</a><a href="/pmc/articles/PMC7724576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32445489">COVID-19 and liver dysfunction: A systematic review and meta-analysis of retrospective studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssef M,
|
||
H Hussein M,
|
||
Attia AS,
|
||
M Elshazli R,
|
||
Omar M,
|
||
Zora G,
|
||
S Farhoud A,
|
||
Elnahla A,
|
||
Shihabi A,
|
||
Toraih EA,
|
||
S Fawzy M,
|
||
Kandil E</span><br />
|
||
<span class="medgenPMjournal">J Med Virol</span>
|
||
2020 Oct;92(10):1825-1833.
|
||
Epub 2020 Jul 27
|
||
doi: 10.1002/jmv.26055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32445489" target="_blank">32445489</a><a href="/pmc/articles/PMC7283797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Prolonged%20prothrombin%20time%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 (8)</a></div></div>
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