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<!--
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UID=871247
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ConceptID=C4025731
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal thrombosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871247</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.">C4025731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal blood clot; Abnormal blood clotting</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001977">HP:0001977</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormal thrombosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="matched_ds">Abnormal thrombosis</span><ul><li><span class="TLline"><a href="/medgen/56253" ref="tree=MeSH" title="MedGen record for Arterial thrombosis">Arterial thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/768731" ref="tree=MeSH" title="MedGen record for Arterial Thrombosis Related to Vascular Access Complication">Arterial Thrombosis Related to Vascular Access Complication</a></span></li><li><span class="TLline"><a href="/medgen/473092" ref="tree=MeSH" title="MedGen record for Thrombosis of abdominal aorta">Thrombosis of abdominal aorta</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41620" ref="tree=MeSH" title="MedGen record for Disseminated intravascular coagulation">Disseminated intravascular coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/868744" ref="tree=MeSH" title="MedGen record for Acute disseminated intravascular coagulation">Acute disseminated intravascular coagulation</a></span></li><li><span class="TLline"><a href="/medgen/354681" ref="tree=MeSH" title="MedGen record for Chronic disseminated intravascular coagulation">Chronic disseminated intravascular coagulation</a></span></li><li><span class="TLline"><a href="/medgen/510687" ref="tree=MeSH" title="MedGen record for Disseminated intravascular coagulation in newborn">Disseminated intravascular coagulation in newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/668941" ref="tree=MeSH" title="MedGen record for Left ventricular thrombus">Left ventricular thrombus</a></span></li><li><span class="TLline"><a href="/medgen/337901" ref="tree=MeSH" title="MedGen record for Peripheral thrombosis">Peripheral thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/508040" ref="tree=MeSH" title="MedGen record for Phlebolith">Phlebolith</a></span></li><li><span class="TLline"><a href="/medgen/1863857" ref="tree=MeSH" title="MedGen record for Subcutaneous arteriolar thrombosis">Subcutaneous arteriolar thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/21532" ref="tree=MeSH" title="MedGen record for Thromboembolism">Thromboembolism</a></span><ul><li><span class="TLline"><a href="/medgen/824274" ref="tree=MeSH" title="MedGen record for Antepartum Obstetric Thromboembolism">Antepartum Obstetric Thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/1742891" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Thromboembolism">COVID-19-Associated Thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/40190" ref="tree=MeSH" title="MedGen record for Intracranial Embolism and Thrombosis">Intracranial Embolism and Thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/40119" ref="tree=MeSH" title="MedGen record for Carotid artery thrombosis">Carotid artery thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/155710" ref="tree=MeSH" title="MedGen record for Intracranial embolism">Intracranial embolism</a></span></li><li><span class="TLline"><a href="/medgen/199820" ref="tree=MeSH" title="MedGen record for Intracranial thrombosis">Intracranial thrombosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116043" ref="tree=MeSH" title="MedGen record for Paradoxical embolism">Paradoxical embolism</a></span></li><li><span class="TLline"><a href="/medgen/821253" ref="tree=MeSH" title="MedGen record for Postpartum Obstetric Thromboembolism">Postpartum Obstetric Thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/141829" ref="tree=MeSH" title="MedGen record for Pulmonary thromboembolism">Pulmonary thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/892537" ref="tree=MeSH" title="MedGen record for Recurrent thromboembolism">Recurrent thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/568957" ref="tree=MeSH" title="MedGen record for Septic embolism">Septic embolism</a></span><ul><li><span class="TLline"><a href="/medgen/742470" ref="tree=MeSH" title="MedGen record for Septic pulmonary embolism">Septic pulmonary embolism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488954" ref="tree=MeSH" title="MedGen record for Thromboembolic stroke">Thromboembolic stroke</a></span></li><li><span class="TLline"><a href="/medgen/348285" ref="tree=MeSH" title="MedGen record for Venous thromboembolism">Venous thromboembolism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/22631" ref="tree=MeSH" title="MedGen record for Venous thrombosis">Venous thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/163632" ref="tree=MeSH" title="MedGen record for Budd-Chiari syndrome">Budd-Chiari syndrome</a></span></li><li><span class="TLline"><a href="/medgen/57743" ref="tree=MeSH" title="MedGen record for Cerebral venous thrombosis">Cerebral venous thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/57448" ref="tree=MeSH" title="MedGen record for Deep venous thrombosis">Deep venous thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/319764" ref="tree=MeSH" title="MedGen record for Recurrent deep vein thrombosis">Recurrent deep vein thrombosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/403987" ref="tree=MeSH" title="MedGen record for Deep venous thrombosis of upper extremity">Deep venous thrombosis of upper extremity</a></span></li><li><span class="TLline"><a href="/medgen/902453" ref="tree=MeSH" title="MedGen record for Gonadal Thrombosis">Gonadal Thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/56372" ref="tree=MeSH" title="MedGen record for Portal vein thrombosis">Portal vein thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/472971" ref="tree=MeSH" title="MedGen record for Renal vein thrombosis">Renal vein thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/19763" ref="tree=MeSH" title="MedGen record for Retinal vein occlusion">Retinal vein occlusion</a></span><ul><li><span class="TLline"><a href="/medgen/573205" ref="tree=MeSH" title="MedGen record for Branch retinal vein occlusion">Branch retinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/509679" ref="tree=MeSH" title="MedGen record for Central retinal vein occlusion">Central retinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/1703639" ref="tree=MeSH" title="MedGen record for Hemiretinal vein occlusion">Hemiretinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/78753" ref="tree=MeSH" title="MedGen record for Partial retinal vein occlusion">Partial retinal vein occlusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868168" ref="tree=MeSH" title="MedGen record for Splanchnic vein thrombosis">Splanchnic vein thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/9217" ref="tree=MeSH" title="MedGen record for Hepatic vein thrombosis">Hepatic vein thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/120599" ref="tree=MeSH" title="MedGen record for Mesenteric venous thrombosis">Mesenteric venous thrombosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11799" ref="tree=MeSH" title="MedGen record for Thrombophlebitis">Thrombophlebitis</a></span><ul><li><span class="TLline"><a href="/medgen/154229" ref="tree=MeSH" title="MedGen record for Injection Site Thrombophlebitis">Injection Site Thrombophlebitis</a></span></li><li><span class="TLline"><a href="/medgen/83364" ref="tree=MeSH" title="MedGen record for Lemierre syndrome">Lemierre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/763064" ref="tree=MeSH" title="MedGen record for Recurrent thrombophlebitis">Recurrent thrombophlebitis</a></span></li><li><span class="TLline"><a href="/medgen/266934" ref="tree=MeSH" title="MedGen record for Superficial thrombophlebitis">Superficial thrombophlebitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/539039" ref="tree=MeSH" title="MedGen record for Thrombosis of vena cava">Thrombosis of vena cava</a></span></li><li><span class="TLline"><a href="/medgen/82924" ref="tree=MeSH" title="MedGen record for Venous stasis syndrome">Venous stasis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/768732" ref="tree=MeSH" title="MedGen record for Venous Thrombosis Related to Vascular Access Complication">Venous Thrombosis Related to Vascular Access Complication</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_45996"><div><strong>Acquired polycythemia vera</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45996</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.">C0032463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/45996">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_116056"><div><strong>Hereditary pancreatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116056</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.">C0238339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">PRSS1-related hereditary pancreatitis (HP) is characterized by episodes of acute pancreatitis (AP) and recurrent acute pancreatitis (RAP: >1 episode of AP), with frequent progression to chronic pancreatitis (CP). Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116056">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347942"><div><strong>Arterial tortuosity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347942</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.">C1859726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400692"><div><strong>MPI-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400692</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.">C1865145</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400692">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_369859"><div><strong>Plasminogen deficiency, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369859</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.">C1968804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/369859">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416465"><div><strong>Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416465</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.">C2751090</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643124"><div><strong>Pulmonary hypertension, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643124</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.">C4552070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension See also PPH2 (615342), caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343), caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344), caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; PPH5 (265400), caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29; and PPH6 (620777), caused by mutation in the CAPNS1 gene (114170) on chromosome 19q13. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1704278"><div><strong>Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1704278</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.">C5200934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1704278">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acquired polycythemia vera</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial tortuosity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary pancreatitis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1704278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MPI-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plasminogen deficiency, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypertension, primary, 1</a></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/12457150">Noninvasive assessment of cardiovascular risk: from Framingham to the future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel RA,
|
||
Benitez RM</span><br />
|
||
<span class="medgenPMjournal">Rev Cardiovasc Med</span>
|
||
2000 Summer;1(1):34-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12457150" target="_blank">12457150</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormal%20thrombosis%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 (1)</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/39135563">GENETIC DETERMINANTS OF THROMBOSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lowenstein CJ</span><br />
|
||
<span class="medgenPMjournal">Trans Am Clin Climatol Assoc</span>
|
||
2024;134:230-238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39135563" target="_blank">39135563</a><a href="/pmc/articles/PMC11316864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37026002">Abnormal thrombosis and neutrophil activation increase hospital-acquired sacral pressure injuries and morbidity in COVID-19 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narang J,
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||
Jatana S,
|
||
Ponti AK,
|
||
Musich R,
|
||
Gallop J,
|
||
Wei AH,
|
||
Seck S,
|
||
Johnson J,
|
||
Kokoczka L,
|
||
Nowacki AS,
|
||
McBride JD,
|
||
Mireles-Cabodevila E,
|
||
Gordon S,
|
||
Cooper K,
|
||
Fernandez AP,
|
||
McDonald C</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1031336.
|
||
Epub 2023 Mar 21
|
||
doi: 10.3389/fimmu.2023.1031336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37026002" target="_blank">37026002</a><a href="/pmc/articles/PMC10070761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33663119">Carbon dioxide: the cause of devastating stroke without hemodynamic compromise during laparoscopic nephrectomy with injury of the inferior vena cava: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
|
||
Xu M</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Feb 26;100(8):e24892.
|
||
doi: 10.1097/MD.0000000000024892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33663119" target="_blank">33663119</a><a href="/pmc/articles/PMC7909101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24237961">Coagulation and the surgical neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold PD</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2014 Jan;24(1):89-97.
|
||
Epub 2013 Nov 15
|
||
doi: 10.1111/pan.12296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24237961" target="_blank">24237961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15950077">The antiphospholipid antibody syndrome research in patients with retinal venous occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilhan F,
|
||
Celiker U,
|
||
Godekmerdan A,
|
||
Kan E</span><br />
|
||
<span class="medgenPMjournal">Arch Med Res</span>
|
||
2005 Jul-Aug;36(4):372-5.
|
||
doi: 10.1016/j.arcmed.2005.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15950077" target="_blank">15950077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thrombosis%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33663119">Carbon dioxide: the cause of devastating stroke without hemodynamic compromise during laparoscopic nephrectomy with injury of the inferior vena cava: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
|
||
Xu M</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Feb 26;100(8):e24892.
|
||
doi: 10.1097/MD.0000000000024892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33663119" target="_blank">33663119</a><a href="/pmc/articles/PMC7909101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15950077">The antiphospholipid antibody syndrome research in patients with retinal venous occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilhan F,
|
||
Celiker U,
|
||
Godekmerdan A,
|
||
Kan E</span><br />
|
||
<span class="medgenPMjournal">Arch Med Res</span>
|
||
2005 Jul-Aug;36(4):372-5.
|
||
doi: 10.1016/j.arcmed.2005.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15950077" target="_blank">15950077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thrombosis%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 (2)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33663119">Carbon dioxide: the cause of devastating stroke without hemodynamic compromise during laparoscopic nephrectomy with injury of the inferior vena cava: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
|
||
Xu M</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Feb 26;100(8):e24892.
|
||
doi: 10.1097/MD.0000000000024892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33663119" target="_blank">33663119</a><a href="/pmc/articles/PMC7909101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24237961">Coagulation and the surgical neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold PD</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2014 Jan;24(1):89-97.
|
||
Epub 2013 Nov 15
|
||
doi: 10.1111/pan.12296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24237961" target="_blank">24237961</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thrombosis%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40039263">Investigating the impact of sickle cell disease on red blood cell transport in complex capillary networks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu R,
|
||
Kabir MS,
|
||
Truskey GA,
|
||
Randles A</span><br />
|
||
<span class="medgenPMjournal">Annu Int Conf IEEE Eng Med Biol Soc</span>
|
||
2024 Jul;2024:1-4.
|
||
doi: 10.1109/EMBC53108.2024.10781578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40039263" target="_blank">40039263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37026002">Abnormal thrombosis and neutrophil activation increase hospital-acquired sacral pressure injuries and morbidity in COVID-19 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narang J,
|
||
Jatana S,
|
||
Ponti AK,
|
||
Musich R,
|
||
Gallop J,
|
||
Wei AH,
|
||
Seck S,
|
||
Johnson J,
|
||
Kokoczka L,
|
||
Nowacki AS,
|
||
McBride JD,
|
||
Mireles-Cabodevila E,
|
||
Gordon S,
|
||
Cooper K,
|
||
Fernandez AP,
|
||
McDonald C</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1031336.
|
||
Epub 2023 Mar 21
|
||
doi: 10.3389/fimmu.2023.1031336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37026002" target="_blank">37026002</a><a href="/pmc/articles/PMC10070761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thrombosis%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40039263">Investigating the impact of sickle cell disease on red blood cell transport in complex capillary networks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu R,
|
||
Kabir MS,
|
||
Truskey GA,
|
||
Randles A</span><br />
|
||
<span class="medgenPMjournal">Annu Int Conf IEEE Eng Med Biol Soc</span>
|
||
2024 Jul;2024:1-4.
|
||
doi: 10.1109/EMBC53108.2024.10781578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40039263" target="_blank">40039263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33663119">Carbon dioxide: the cause of devastating stroke without hemodynamic compromise during laparoscopic nephrectomy with injury of the inferior vena cava: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao Y,
|
||
Xu M</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Feb 26;100(8):e24892.
|
||
doi: 10.1097/MD.0000000000024892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33663119" target="_blank">33663119</a><a href="/pmc/articles/PMC7909101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20547128">Fibrinogen and beta-amyloid association alters thrombosis and fibrinolysis: a possible contributing factor to Alzheimer's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortes-Canteli M,
|
||
Paul J,
|
||
Norris EH,
|
||
Bronstein R,
|
||
Ahn HJ,
|
||
Zamolodchikov D,
|
||
Bhuvanendran S,
|
||
Fenz KM,
|
||
Strickland S</span><br />
|
||
<span class="medgenPMjournal">Neuron</span>
|
||
2010 Jun 10;66(5):695-709.
|
||
doi: 10.1016/j.neuron.2010.05.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20547128" target="_blank">20547128</a><a href="/pmc/articles/PMC2895773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15950077">The antiphospholipid antibody syndrome research in patients with retinal venous occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilhan F,
|
||
Celiker U,
|
||
Godekmerdan A,
|
||
Kan E</span><br />
|
||
<span class="medgenPMjournal">Arch Med Res</span>
|
||
2005 Jul-Aug;36(4):372-5.
|
||
doi: 10.1016/j.arcmed.2005.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15950077" target="_blank">15950077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20thrombosis%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 (4)</a></div></div>
|
||
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|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20thrombosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormal%20thrombosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20thrombosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormal%20thrombosis" target="_blank">MedlinePlus</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=871247" ref="log$=recordlinks">ClinVar</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d6391c84f3725e597b058f">Abnormal thrombosis</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d6391acde49f3df729e140">Protein-losing enteropathy</a>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Homo sapiens solute carrier family 25 member 13 (SLC25A13), RefSeqGene on chromosome 7<div class="brieflinkpopdesc">gi|238776810|ref|NG_012247.1|</div></div>
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