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<meta name="keywords" content="C1268935, adamts13, congenital adamts-13 deficiency, congenital adamts13 deficiency, congenital thrombotic thrombocytopenic purpura, congenital ttp, disease or syndrome, familial thrombotic microangiopathy, familial thrombotic thrombocytopenia purpura, familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome, familial ttp, familial ttp/hus, hereditary thrombotic thrombocytopenic purpura, microangiopathic hemolytic anaemia, microangiopathic hemolytic anemia, microangiopathic hemolytic anemia, congenital, microangiopathy, familial thrombotic, schulman upshaw syndrome, schulman-upshaw syndrome, thrombotic microangiopathy, familial, thrombotic thrombocytopenic purpura, congenital, thrombotic thrombocytopenic purpura, familial, thrombotic thrombocytopenic purpura, hereditary, thrombotic thrombocytopenic purpura, hereditary, infantile- or adult-onset, ttp, ttp, congenital, upshaw factor, deficiency of, upshaw schulman syndrome, upshaw-schulman syndrome, uss, 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="Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see 188030). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by Joly et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=224783
|
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ConceptID=C1268935
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Upshaw-Schulman syndrome<span class="h1sub">(TTP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224783</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1268935</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital thrombotic thrombocytopenic purpura; Familial Thrombotic Thrombocytopenia Purpura; THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY; TTP</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Upshaw-Schulman syndrome (373420004); Familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome (373420004); Familial TTP/HUS (373420004); Congenital ADAMTS-13 deficiency (373420004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ADAMTS13 - ID: 11093 - NCBI Gene" href="/gene/11093" class="medgenPMinfo">ADAMTS13</a> (9q34.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010122" target="_blank">MONDO:0010122</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/274150" target="_blank">274150</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93583">ORPHA93583</a></td></tr></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">Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see 188030). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by Joly et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Complications resulting from these clots can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems.<br /><br />Blood clots normally form to stop blood loss at the sites of blood vessel injury. In people with thrombotic thrombocytopenic purpura, clots develop even in the absence of apparent injury. Blood clots are formed from clumps of cells called platelets that circulate in the blood and assist with clotting. Because a large number of platelets are used to make clots in people with thrombotic thrombocytopenic purpura, fewer platelets are available in the bloodstream. A reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura.<br /><br />This disorder also causes red blood cells to break down (undergo hemolysis) prematurely. As blood squeezes past clots within blood vessels, red blood cells can break apart. A condition called hemolytic anemia occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate.<br /><br />There are two major forms of thrombotic thrombocytopenic purpura, an acquired (noninherited) form and a familial (inherited) form. The acquired form usually appears in late childhood or adulthood. Affected individuals may have a single episode of signs and symptoms, or, more commonly, they may experience multiple recurrences over time. The familial form of this disorder is much rarer and typically appears in infancy or early childhood, although it can appear later in life. In people with the familial form, signs and symptoms often recur on a regular basis and may return during times of stress, such as during illness or pregnancy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/thrombotic-thrombocytopenic-purpura">https://medlineplus.gov/genetics/condition/thrombotic-thrombocytopenic-purpura</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42403"><div><strong>Hemolytic-uremic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42403</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.">C0019061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42403">Feature record</a> | <a href="/medgen?term=%22Hemolytic-uremic%20syndrome%22%5BClinical%20Features%5D%20OR%2042403%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_508816"><div><strong>Abnormal renal physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>508816</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.">C0151746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal functionality of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/508816">Feature record</a> | <a href="/medgen?term=%22Abnormal%20renal%20physiology%22%5BClinical%20Features%5D%20OR%20508816%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65997"><div><strong>Microscopic hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65997</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.">C0239937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microscopic hematuria detected by dipstick or microscopic examination of the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65997">Feature record</a> | <a href="/medgen?term=%22Microscopic%20hematuria%22%5BClinical%20Features%5D%20OR%2065997%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853"><div><strong>Transient ischemic attack</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853</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.">C0007787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853">Feature record</a> | <a href="/medgen?term=%22Transient%20ischemic%20attack%22%5BClinical%20Features%5D%20OR%20853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10150"><div><strong>Myocardial infarction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10150</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.">C0027051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10150">Feature record</a> | <a href="/medgen?term=%22Myocardial%20infarction%22%5BClinical%20Features%5D%20OR%2010150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52522"><div><strong>Stroke disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52522</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.">C0038454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52522">Feature record</a> | <a href="/medgen?term=%22Stroke%20disorder%22%5BClinical%20Features%5D%20OR%2052522%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347108"><div><strong>Prolonged neonatal jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347108</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.">C1859236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347108">Feature record</a> | <a href="/medgen?term=%22Prolonged%20neonatal%20jaundice%22%5BClinical%20Features%5D%20OR%20347108%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3587"><div><strong>Confusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3587</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.">C0009676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of clarity and coherence of thought, perception, understanding, or action.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3587">Feature record</a> | <a href="/medgen?term=%22Confusion%22%5BClinical%20Features%5D%20OR%203587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_60089"><div><strong>Reticulocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60089</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.">C0206160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60089">Feature record</a> | <a href="/medgen?term=%22Reticulocytosis%22%5BClinical%20Features%5D%20OR%2060089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65120"><div><strong>Microangiopathic hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65120</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.">C0221021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65120">Feature record</a> | <a href="/medgen?term=%22Microangiopathic%20hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%2065120%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_576247"><div><strong>Schistocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>576247</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.">C0344386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Schistocytosis%22%5BClinical%20Features%5D%20OR%20576247%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96907"><div><strong>Respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96907</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.">C0476273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96907">Feature record</a> | <a href="/medgen?term=%22Respiratory%20distress%22%5BClinical%20Features%5D%20OR%2096907%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760252"><div><strong>Increased blood urea nitrogen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760252</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.">C0151539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of nitrogen in the form of urea in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760252">Feature record</a> | <a href="/medgen?term=%22Increased%20blood%20urea%20nitrogen%22%5BClinical%20Features%5D%20OR%20760252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</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.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microangiopathic hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticulocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_576247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schistocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased blood urea nitrogen</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myocardial infarction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stroke disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient ischemic attack</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged neonatal jaundice</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_508816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal renal physiology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic-uremic syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microscopic hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Confusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory distress</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1268935[DISCUI]&test_type=Clinical" ref="ncbi_uid=224783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=224783" target="_blank" href="/omim/274150">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=224783" ref="ncbi_uid=224783">V</a></span></span><span class="TLline">Upshaw-Schulman syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/163105" ref="tree=MeSH" title="MedGen record for Inherited blood coagulation disorder">Inherited blood coagulation disorder</a></span><ul><li><span class="matched_ds">Upshaw-Schulman syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12422&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Upshaw-Schulman syndrome</span> in Orphanet.</div></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/33433066">Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakai K,
|
||
Fujimura Y,
|
||
Nagata Y,
|
||
Higasa S,
|
||
Moriyama M,
|
||
Isonishi A,
|
||
Konno M,
|
||
Kajiwara M,
|
||
Ogawa Y,
|
||
Kaburagi S,
|
||
Hara T,
|
||
Kokame K,
|
||
Miyata T,
|
||
Hatakeyama K,
|
||
Matsumoto M</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2020 Nov;18(11):2929-2941.
|
||
Epub 2020 Oct 15
|
||
doi: 10.1111/jth.15064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33433066" target="_blank">33433066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23233642">Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kremer Hovinga JA,
|
||
Lämmle B</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2012;2012:610-6.
|
||
doi: 10.1182/asheducation-2012.1.610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23233642" target="_blank">23233642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22265954">Current management and therapeutical perspectives in thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppo P,
|
||
Veyradier A</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2012 Mar;41(3 Pt 2):e163-76.
|
||
Epub 2012 Jan 21
|
||
doi: 10.1016/j.lpm.2011.10.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22265954" target="_blank">22265954</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22upshaw-schulman%20syndrome%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 (4)</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/38536644">Hereditary TTP/Upshaw-Schulman syndrome: the ductus arteriosus controls newborn survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimura Y</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2024 May;119(5):532-540.
|
||
Epub 2024 Mar 27
|
||
doi: 10.1007/s12185-024-03731-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38536644" target="_blank">38536644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37895305">Hereditary Thrombotic Thrombocytopenic Purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nusrat S,
|
||
Beg K,
|
||
Khan O,
|
||
Sinha A,
|
||
George J</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Oct 18;14(10)
|
||
doi: 10.3390/genes14101956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37895305" target="_blank">37895305</a><a href="/pmc/articles/PMC10606562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37855744">Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chrisentery-Singleton T,
|
||
Boggio LN,
|
||
Carcao MD,
|
||
Ibrahimi S,
|
||
Khan O,
|
||
Mahajerin A,
|
||
Rajasekhar A,
|
||
Sharma V,
|
||
Steele M,
|
||
Torres M,
|
||
Rodino FJ,
|
||
Carpenter SL</span><br />
|
||
<span class="medgenPMjournal">Haemophilia</span>
|
||
2023 Nov;29(6):1638-1645.
|
||
Epub 2023 Oct 19
|
||
doi: 10.1111/hae.14891.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37855744" target="_blank">37855744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28382967">Thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kremer Hovinga JA,
|
||
Coppo P,
|
||
Lämmle B,
|
||
Moake JL,
|
||
Miyata T,
|
||
Vanhoorelbeke K</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Apr 6;3:17020.
|
||
doi: 10.1038/nrdp.2017.20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28382967" target="_blank">28382967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23715104">Pregnancy in Upshaw-Schulman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kentouche K,
|
||
Voigt A,
|
||
Schleussner E,
|
||
Schneppenheim R,
|
||
Budde U,
|
||
Beck JF,
|
||
Stefańska-Windyga E,
|
||
Windyga J</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2013 May 29;33(2):144-8.
|
||
doi: 10.5482/HAMO-13-04-0025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23715104" target="_blank">23715104</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upshaw-Schulman%20syndrome%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37895305">Hereditary Thrombotic Thrombocytopenic Purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nusrat S,
|
||
Beg K,
|
||
Khan O,
|
||
Sinha A,
|
||
George J</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Oct 18;14(10)
|
||
doi: 10.3390/genes14101956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37895305" target="_blank">37895305</a><a href="/pmc/articles/PMC10606562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31698449">Patent ductus arteriosus generates neonatal hemolytic jaundice with thrombocytopenia in Upshaw-Schulman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimura Y,
|
||
Lämmle B,
|
||
Tanabe S,
|
||
Sakai K,
|
||
Kimura T,
|
||
Kokame K,
|
||
Miyata T,
|
||
Takahashi Y,
|
||
Taniguchi S,
|
||
Matsumoto M</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2019 Nov 12;3(21):3191-3195.
|
||
doi: 10.1182/bloodadvances.2019000601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31698449" target="_blank">31698449</a><a href="/pmc/articles/PMC6855110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28382967">Thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kremer Hovinga JA,
|
||
Coppo P,
|
||
Lämmle B,
|
||
Moake JL,
|
||
Miyata T,
|
||
Vanhoorelbeke K</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Apr 6;3:17020.
|
||
doi: 10.1038/nrdp.2017.20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28382967" target="_blank">28382967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26522217">Upshaw-Schulman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmad R,
|
||
Natiq M,
|
||
Aziz M</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2015 Oct;25 Suppl 2:S97-9.
|
||
doi: 10.2015/JCPSP.S9799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26522217" target="_blank">26522217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23715104">Pregnancy in Upshaw-Schulman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kentouche K,
|
||
Voigt A,
|
||
Schleussner E,
|
||
Schneppenheim R,
|
||
Budde U,
|
||
Beck JF,
|
||
Stefańska-Windyga E,
|
||
Windyga J</span><br />
|
||
<span class="medgenPMjournal">Hamostaseologie</span>
|
||
2013 May 29;33(2):144-8.
|
||
doi: 10.5482/HAMO-13-04-0025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23715104" target="_blank">23715104</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upshaw-Schulman%20syndrome%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 (52)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28382967">Thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kremer Hovinga JA,
|
||
Coppo P,
|
||
Lämmle B,
|
||
Moake JL,
|
||
Miyata T,
|
||
Vanhoorelbeke K</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Apr 6;3:17020.
|
||
doi: 10.1038/nrdp.2017.20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28382967" target="_blank">28382967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27383044">Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmberg K,
|
||
Hassenpflug WA,
|
||
Klaassen I,
|
||
Hillebrand G,
|
||
Oyen F,
|
||
Budde U,
|
||
Singer D,
|
||
Schneppenheim R</span><br />
|
||
<span class="medgenPMjournal">Z Geburtshilfe Neonatol</span>
|
||
2017 Feb;221(1):39-42.
|
||
Epub 2016 Jul 6
|
||
doi: 10.1055/s-0042-109404.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27383044" target="_blank">27383044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23146723">Thrombotic thrombocytopenic purpura in pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steele M,
|
||
Chen HH,
|
||
Steele J,
|
||
Chan AK,
|
||
Lau KK</span><br />
|
||
<span class="medgenPMjournal">Zhongguo Dang Dai Er Ke Za Zhi</span>
|
||
2012 Nov;14(11):803-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23146723" target="_blank">23146723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22265954">Current management and therapeutical perspectives in thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppo P,
|
||
Veyradier A</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2012 Mar;41(3 Pt 2):e163-76.
|
||
Epub 2012 Jan 21
|
||
doi: 10.1016/j.lpm.2011.10.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22265954" target="_blank">22265954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7754778">Partial clinical improvement in Upshaw-Schulman syndrome following prostacyclin infusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Konno M,
|
||
Yoshioka A,
|
||
Takase T,
|
||
Imai T</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Jpn</span>
|
||
1995 Feb;37(1):97-100.
|
||
doi: 10.1111/j.1442-200x.1995.tb03697.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7754778" target="_blank">7754778</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upshaw-Schulman%20syndrome%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37855744">Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chrisentery-Singleton T,
|
||
Boggio LN,
|
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Carcao MD,
|
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Ibrahimi S,
|
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Khan O,
|
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Mahajerin A,
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Rajasekhar A,
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Sharma V,
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Steele M,
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Torres M,
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Rodino FJ,
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<span class="medgenPMjournal">Haemophilia</span>
|
||
2023 Nov;29(6):1638-1645.
|
||
Epub 2023 Oct 19
|
||
doi: 10.1111/hae.14891.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37855744" target="_blank">37855744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36368692">From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woods AI,
|
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Paiva J,
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Dos Santos C,
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Alberto MF,
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2023 Apr;49(3):284-294.
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Epub 2022 Nov 11
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/36368692" target="_blank">36368692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25242241">Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Rodríguez A,
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||
Lourés E,
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Rodríguez-Trillo Á,
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Costa-Pinto J,
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García-Rivero A,
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Batlle-López A,
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Batlle J,
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López-Fernández MF</span><br />
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<span class="medgenPMjournal">Thromb Res</span>
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2014 Dec;134(6):1171-5.
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||
Epub 2014 Sep 10
|
||
doi: 10.1016/j.thromres.2014.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25242241" target="_blank">25242241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23715103">Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri Taleghani M,
|
||
von Krogh AS,
|
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Fujimura Y,
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||
George JN,
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Hrachovinová I,
|
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Knöbl PN,
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Quist-Paulsen P,
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Schneppenheim R,
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2013 May 29;33(2):138-43.
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doi: 10.5482/HAMO-13-04-0026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23715103" target="_blank">23715103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11843286">Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimura Y,
|
||
Matsumoto M,
|
||
Yagi H,
|
||
Yoshioka A,
|
||
Matsui T,
|
||
Titani K</span><br />
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<span class="medgenPMjournal">Int J Hematol</span>
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||
2002 Jan;75(1):25-34.
|
||
doi: 10.1007/BF02981975.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11843286" target="_blank">11843286</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upshaw-Schulman%20syndrome%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32365113">Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Letzer A,
|
||
Lehmann K,
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||
Mess C,
|
||
König G,
|
||
Obser T,
|
||
Peine S,
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||
Schneppenheim S,
|
||
Budde U,
|
||
Schneider SW,
|
||
Schneppenheim R,
|
||
Brehm MA</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2020;15(5):e0232637.
|
||
Epub 2020 May 4
|
||
doi: 10.1371/journal.pone.0232637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32365113" target="_blank">32365113</a><a href="/pmc/articles/PMC7197795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32103696">New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elbaz C,
|
||
Sholzberg M,
|
||
Hanif H,
|
||
Bonnefoy A,
|
||
Pavenski K</span><br />
|
||
<span class="medgenPMjournal">Platelets</span>
|
||
2020 Nov 16;31(8):1094-1096.
|
||
Epub 2020 Feb 27
|
||
doi: 10.1080/09537104.2020.1732327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32103696" target="_blank">32103696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29554699">Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassenpflug WA,
|
||
Obser T,
|
||
Bode J,
|
||
Oyen F,
|
||
Budde U,
|
||
Schneppenheim S,
|
||
Schneppenheim R,
|
||
Brehm MA</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2018 Apr;118(4):709-722.
|
||
Epub 2018 Mar 19
|
||
doi: 10.1055/s-0038-1637749.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29554699" target="_blank">29554699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23872162">Experiences in a family with the Upshaw-Schulman syndrome over a 44-year period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bennett M,
|
||
Chubar Y,
|
||
Gavish I,
|
||
Aviv A,
|
||
Stemer G,
|
||
Chap-Marshak D</span><br />
|
||
<span class="medgenPMjournal">Clin Appl Thromb Hemost</span>
|
||
2014 Apr;20(3):296-303.
|
||
Epub 2013 Jul 19
|
||
doi: 10.1177/1076029613495309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23872162" target="_blank">23872162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11843286">Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimura Y,
|
||
Matsumoto M,
|
||
Yagi H,
|
||
Yoshioka A,
|
||
Matsui T,
|
||
Titani K</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2002 Jan;75(1):25-34.
|
||
doi: 10.1007/BF02981975.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11843286" target="_blank">11843286</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Upshaw-Schulman%20syndrome%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<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_content ln"><ul><li><a href="/gtr/tests?term=C1268935%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C1268935%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1268935%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (37)</a></li>
|
||
<li><a href="/gtr/tests?term=C1268935%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
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||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1268935%5bDISCUI%5d" target="_blank">See all (44)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=274150" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=93583" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Upshaw-Schulman%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22upshaw-schulman%20syndrome%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(%22Upshaw-Schulman%20syndrome%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 mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604134" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=11093[geneid]" target="_blank">View ADAMTS13 variations in ClinVar</a></li><li><a href="/nuccore/227497698" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=274150" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/thrombotic_thrombocytopenic_purpura_hereditary" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Upshaw-Schulman%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/thrombotic-thrombocytopenic-purpura" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9430/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Upshaw-Schulman%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Upshaw-Schulman%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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