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<meta name="keywords" content="C2749604, ahus, susceptibility to, 1, ahus1, atypical hemolytic-uremic syndrome 1, cfh, cfhr1, cfhr3, finding, hemolytic uremic syndrome, atypical, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, type 1, hemolytic uremic syndrome, typical, susceptibility to atypical hemolytic uremic syndrome 1, 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="Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=412743
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ConceptID=C2749604
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemolytic uremic syndrome, atypical, susceptibility to, 1<span class="h1sub">(AHUS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412743</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:">C2749604</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AHUS, SUSCEPTIBILITY TO, 1; Atypical hemolytic-uremic syndrome 1</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">Genes (locations):<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="CFH - ID: 3075 - NCBI Gene" href="/gene/3075" class="medgenPMinfo">CFH</a> (1q31.3); <a target="_blank" title="CFHR1 - ID: 3078 - NCBI Gene" href="/gene/3078" class="medgenPMinfo">CFHR1</a> (1q31.3); <a target="_blank" title="CFHR3 - ID: 10878 - NCBI Gene" href="/gene/10878" class="medgenPMinfo">CFHR3</a> (1q31.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009335" target="_blank">MONDO:0009335</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/235400" target="_blank">235400</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1367" target="_blank">Genetic Atypical Hemolytic-Uremic Syndrome</a></div><div>Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1367#husa.Summary" target="NBK1367">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Diagnosis" target="NBK1367">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Clinical_Characteristics" target="NBK1367">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Genetically_Related_Allelic_Disorde" target="NBK1367">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Differential_Diagnosis" target="NBK1367">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Management" target="NBK1367">Management</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Genetic_Counseling" target="NBK1367">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Resources" target="NBK1367">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Molecular_Genetics" target="NBK1367">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Chapter_Notes" target="NBK1367">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.References" target="NBK1367">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Marina Noris | Elena Bresin | Caterina Mele<i>, et. al.</i> <a href="/books/NBK1367" target="NBK1367" title="NCBI Bookshelf: Genetic Atypical Hemolytic-Uremic Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS.
|
||
Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome
|
||
Atypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (612922), AHUS3 (612923), AHUS4 (612924), AHUS5 (612925), and AHUS6 (612926). AHUS7 (see 615008) is caused by mutation in the DGKE gene (601440), which is not part of the complement cascade system. AHUS8 (301110) is caused by mutation in the C1GALT1C1 gene (300611), encoding a molecular chaperone with an essential role in mucin-type O-glycan biosynthesis, on chromosome Xq23. <a target="_blank" href="http://www.omim.org/entry/235400">http://www.omim.org/entry/235400</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.<br /><br />Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. Anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate.<br /><br />Thrombocytopenia is a reduced level of circulating platelets, which are cells that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding.<br /><br />Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.<br /><br />As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively. <a target="_blank" href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome">https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome</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_358"><div><strong>Anuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358</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.">C0003460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of urine, clinically classified as below 50ml/day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358">Feature record</a> | <a href="/medgen?term=%22Anuria%22%5BClinical%20Features%5D%20OR%20358%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_388570"><div><strong>Acute kidney injury</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388570</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.">C2609414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Acute%20kidney%20injury%22%5BClinical%20Features%5D%20OR%20388570%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8159"><div><strong>Aphasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8159</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.">C0003537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8159">Feature record</a> | <a href="/medgen?term=%22Aphasia%22%5BClinical%20Features%5D%20OR%208159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</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.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6783"><div><strong>Hemiparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6783</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.">C0018989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6783">Feature record</a> | <a href="/medgen?term=%22Hemiparesis%22%5BClinical%20Features%5D%20OR%206783%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90932"><div><strong>Cognitive impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90932</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.">C0338656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90932">Feature record</a> | <a href="/medgen?term=%22Cognitive%20impairment%22%5BClinical%20Features%5D%20OR%2090932%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_332469"><div><strong>Decreased circulating complement C3 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332469</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.">C1837512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component C3 in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332469">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20C3%20concentration%22%5BClinical%20Features%5D%20OR%20332469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_409784"><div><strong>Decreased circulating complement factor H concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409784</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.">C1969222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor H in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409784">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20H%20concentration%22%5BClinical%20Features%5D%20OR%20409784%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370868"><div><strong>Decreased circulating complement factor I concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370868</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.">C1970257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor I in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370868">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20I%20concentration%22%5BClinical%20Features%5D%20OR%20370868%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867275"><div><strong>Decreased circulating complement factor B concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867275</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.">C4021636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor B in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867275">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20B%20concentration%22%5BClinical%20Features%5D%20OR%20867275%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_5692"><div><strong>Hyperlipidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5692</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.">C0020473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated lipid concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5692">Feature record</a> | <a href="/medgen?term=%22Hyperlipidemia%22%5BClinical%20Features%5D%20OR%205692%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_19584"><div><strong>Purpura</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19584</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.">C0034150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Purpura (from Latin</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19584">Feature record</a> | <a href="/medgen?term=%22Purpura%22%5BClinical%20Features%5D%20OR%2019584%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_5692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipidemia</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></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_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</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_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</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_388570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute kidney injury</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anuria</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></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement C3 concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor B concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_409784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor H concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor I concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purpura</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_8159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aphasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemiparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019061[DISCUI]&test_type=Clinical" ref="ncbi_uid=42403">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=42403" ref="ncbi_uid=42403">V</a></span></span><span class="TLline"><a href="/medgen/42403" ref="tree=GTR&ncbi_uid=42403&link_uid=42403" title="View MedGen record for 'Hemolytic-uremic syndrome'">Hemolytic-uremic syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931788[DISCUI]&test_type=Clinical" ref="ncbi_uid=444141">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=444141">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444141" ref="ncbi_uid=444141">V</a></span></span><span class="TLline"><a href="/medgen/444141" ref="tree=GTR&ncbi_uid=444141&link_uid=444141" title="View MedGen record for 'Atypical hemolytic-uremic syndrome'">Atypical hemolytic-uremic syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752038[DISCUI]&test_type=Clinical" ref="ncbi_uid=416691">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416691" target="_blank" href="/omim/138470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=416691">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416691" ref="ncbi_uid=416691">V</a></span></span><span class="TLline"><a href="/medgen/416691" ref="tree=GTR&ncbi_uid=416691&link_uid=416691" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with B factor anomaly'">Atypical hemolytic-uremic syndrome with B factor anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752037[DISCUI]&test_type=Clinical" ref="ncbi_uid=442875">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442875" target="_blank" href="/omim/120700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=442875">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442875" ref="ncbi_uid=442875">V</a></span></span><span class="TLline"><a href="/medgen/442875" ref="tree=GTR&ncbi_uid=442875&link_uid=442875" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with C3 anomaly'">Atypical hemolytic-uremic syndrome with C3 anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752039[DISCUI]&test_type=Clinical" ref="ncbi_uid=414542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414542" target="_blank" href="/omim/217030">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=414542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414542" ref="ncbi_uid=414542">V</a></span></span><span class="TLline"><a href="/medgen/414542" ref="tree=GTR&ncbi_uid=414542&link_uid=414542" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with I factor anomaly'">Atypical hemolytic-uremic syndrome with I factor anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752040[DISCUI]&test_type=Clinical" ref="ncbi_uid=414167">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414167" target="_blank" href="/omim/120920">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=414167">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414167" ref="ncbi_uid=414167">V</a></span></span><span class="TLline"><a href="/medgen/414167" ref="tree=GTR&ncbi_uid=414167&link_uid=414167" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly'">Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752036[DISCUI]&test_type=Clinical" ref="ncbi_uid=414541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414541" target="_blank" href="/omim/188040">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=414541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414541" ref="ncbi_uid=414541">V</a></span></span><span class="TLline"><a href="/medgen/414541" ref="tree=GTR&ncbi_uid=414541&link_uid=414541" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly'">Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN036211[DISCUI]&test_type=Clinical" ref="ncbi_uid=430731">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=430731">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/430731" ref="tree=GTR&ncbi_uid=430731&link_uid=430731" title="View MedGen record for 'Hemolytic uremic syndrome, atypical, childhood'">Hemolytic uremic syndrome, atypical, childhood</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969906[DISCUI]&test_type=Clinical" ref="ncbi_uid=370773">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370773" target="_blank" href="/omim/134371">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=370773" ref="ncbi_uid=370773">V</a></span></span><span class="TLline"><a href="/medgen/370773" ref="tree=GTR&ncbi_uid=370773&link_uid=370773" title="View MedGen record for 'Hemolytic uremic syndrome, atypical, susceptibility to'">Hemolytic uremic syndrome, atypical, susceptibility to</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2749604[DISCUI]&test_type=Clinical" ref="ncbi_uid=412743">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412743" target="_blank" href="/omim/134370">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=412743">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412743" ref="ncbi_uid=412743">V</a></span></span><span class="TLline">Hemolytic uremic syndrome, atypical, susceptibility to, 1</span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN072396[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=449003">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/449003" ref="tree=GTR&ncbi_uid=449003&link_uid=449003" title="View MedGen record for 'D-plus hemolytic uremic syndrome (D+HUS)'">D-plus hemolytic uremic syndrome (D+HUS)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1268937[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=692757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/692757" ref="tree=GTR&ncbi_uid=692757&link_uid=692757" title="View MedGen record for 'Diarrhea-negative hemolytic uremic syndrome'">Diarrhea-negative hemolytic uremic syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/508816" ref="tree=MeSH" title="MedGen record for Abnormal renal physiology">Abnormal renal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/42403" ref="tree=MeSH" title="MedGen record for Hemolytic-uremic syndrome">Hemolytic-uremic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/444141" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome">Atypical hemolytic-uremic syndrome</a></span><ul><li><span class="matched_ds">Hemolytic uremic syndrome, atypical, susceptibility to, 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/36845135">An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gastoldi S,
|
||
Aiello S,
|
||
Galbusera M,
|
||
Breno M,
|
||
Alberti M,
|
||
Bresin E,
|
||
Mele C,
|
||
Piras R,
|
||
Liguori L,
|
||
Santarsiero D,
|
||
Benigni A,
|
||
Remuzzi G,
|
||
Noris M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1112257.
|
||
Epub 2023 Feb 9
|
||
doi: 10.3389/fimmu.2023.1112257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36845135" target="_blank">36845135</a><a href="/pmc/articles/PMC9949374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31390992">Reduced membrane attack complex formation in umbilical cord blood during Eculizumab treatment of the mother: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagarajah S,
|
||
Tepel M,
|
||
Nielsen C,
|
||
Assing K,
|
||
Palarasah Y,
|
||
Andersen LLT,
|
||
Lange LB,
|
||
Bistrup C</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2019 Aug 7;20(1):307.
|
||
doi: 10.1186/s12882-019-1469-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31390992" target="_blank">31390992</a><a href="/pmc/articles/PMC6686417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201)%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 (2)</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/32296648">Verotoxin Receptor-Based Pathology and Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lingwood C</span><br />
|
||
<span class="medgenPMjournal">Front Cell Infect Microbiol</span>
|
||
2020;10:123.
|
||
Epub 2020 Mar 31
|
||
doi: 10.3389/fcimb.2020.00123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32296648" target="_blank">32296648</a><a href="/pmc/articles/PMC7136409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30768680">Eculizumab in paroxysmal nocturnal haemoglobinuria and atypical haemolytic uraemic syndrome: 10-year pharmacovigilance analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Socié G,
|
||
Caby-Tosi MP,
|
||
Marantz JL,
|
||
Cole A,
|
||
Bedrosian CL,
|
||
Gasteyger C,
|
||
Mujeebuddin A,
|
||
Hillmen P,
|
||
Vande Walle J,
|
||
Haller H</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Apr;185(2):297-310.
|
||
Epub 2019 Feb 15
|
||
doi: 10.1111/bjh.15790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30768680" target="_blank">30768680</a><a href="/pmc/articles/PMC6594003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29167171">Advances in our understanding of the pathogenesis of hemolytic uremic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowen EE,
|
||
Coward RJ</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Renal Physiol</span>
|
||
2018 Mar 1;314(3):F454-F461.
|
||
Epub 2017 Nov 22
|
||
doi: 10.1152/ajprenal.00376.2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29167171" target="_blank">29167171</a><a href="/pmc/articles/PMC5899223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596415">Hemolytic Uremic Syndrome in Pregnancy and Postpartum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruel A,
|
||
Kavanagh D,
|
||
Noris M,
|
||
Delmas Y,
|
||
Wong EKS,
|
||
Bresin E,
|
||
Provôt F,
|
||
Brocklebank V,
|
||
Mele C,
|
||
Remuzzi G,
|
||
Loirat C,
|
||
Frémeaux-Bacchi V,
|
||
Fakhouri F</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Aug 7;12(8):1237-1247.
|
||
Epub 2017 Jun 8
|
||
doi: 10.2215/CJN.00280117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596415" target="_blank">28596415</a><a href="/pmc/articles/PMC5544502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25843230">Atypical aHUS: State of the art.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nester CM,
|
||
Barbour T,
|
||
de Cordoba SR,
|
||
Dragon-Durey MA,
|
||
Fremeaux-Bacchi V,
|
||
Goodship TH,
|
||
Kavanagh D,
|
||
Noris M,
|
||
Pickering M,
|
||
Sanchez-Corral P,
|
||
Skerka C,
|
||
Zipfel P,
|
||
Smith RJ</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2015 Sep;67(1):31-42.
|
||
Epub 2015 Apr 3
|
||
doi: 10.1016/j.molimm.2015.03.246.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25843230" target="_blank">25843230</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201%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 (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37288831">A single-center experience of post-transplant atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu Jawdeh BG,
|
||
Khan MA</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2023 Aug;100(2):75-81.
|
||
doi: 10.5414/CN111160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37288831" target="_blank">37288831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35126388">Atypical Hemolytic Uremic Syndrome-Associated FHR1 Isoform FHR1*B Enhances Complement Activation and Inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu B,
|
||
Kang Y,
|
||
Du Y,
|
||
Guo W,
|
||
Zhu L,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:755694.
|
||
Epub 2022 Jan 21
|
||
doi: 10.3389/fimmu.2022.755694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35126388" target="_blank">35126388</a><a href="/pmc/articles/PMC8814109" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29327071">Diseases of complement dysregulation-an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong EKS,
|
||
Kavanagh D</span><br />
|
||
<span class="medgenPMjournal">Semin Immunopathol</span>
|
||
2018 Jan;40(1):49-64.
|
||
Epub 2018 Jan 11
|
||
doi: 10.1007/s00281-017-0663-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29327071" target="_blank">29327071</a><a href="/pmc/articles/PMC5794843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28224376">A case of atypical hemolytic uremic syndrome in a second renal transplant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zwang NA,
|
||
Ho B,
|
||
Kanwar YS,
|
||
Lewis B,
|
||
Cusick M,
|
||
Friedewald JJ,
|
||
Gallon L</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2018 Feb;31(1):165-172.
|
||
Epub 2017 Feb 21
|
||
doi: 10.1007/s40620-016-0373-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28224376" target="_blank">28224376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596415">Hemolytic Uremic Syndrome in Pregnancy and Postpartum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruel A,
|
||
Kavanagh D,
|
||
Noris M,
|
||
Delmas Y,
|
||
Wong EKS,
|
||
Bresin E,
|
||
Provôt F,
|
||
Brocklebank V,
|
||
Mele C,
|
||
Remuzzi G,
|
||
Loirat C,
|
||
Frémeaux-Bacchi V,
|
||
Fakhouri F</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Aug 7;12(8):1237-1247.
|
||
Epub 2017 Jun 8
|
||
doi: 10.2215/CJN.00280117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596415" target="_blank">28596415</a><a href="/pmc/articles/PMC5544502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201%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 (32)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37288831">A single-center experience of post-transplant atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu Jawdeh BG,
|
||
Khan MA</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2023 Aug;100(2):75-81.
|
||
doi: 10.5414/CN111160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37288831" target="_blank">37288831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30768680">Eculizumab in paroxysmal nocturnal haemoglobinuria and atypical haemolytic uraemic syndrome: 10-year pharmacovigilance analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Socié G,
|
||
Caby-Tosi MP,
|
||
Marantz JL,
|
||
Cole A,
|
||
Bedrosian CL,
|
||
Gasteyger C,
|
||
Mujeebuddin A,
|
||
Hillmen P,
|
||
Vande Walle J,
|
||
Haller H</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Apr;185(2):297-310.
|
||
Epub 2019 Feb 15
|
||
doi: 10.1111/bjh.15790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30768680" target="_blank">30768680</a><a href="/pmc/articles/PMC6594003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30504334">Complement-driven anemia: more than just paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merrill SA,
|
||
Brodsky RA</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2018 Nov 30;2018(1):371-376.
|
||
doi: 10.1182/asheducation-2018.1.371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30504334" target="_blank">30504334</a><a href="/pmc/articles/PMC6245985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28224376">A case of atypical hemolytic uremic syndrome in a second renal transplant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zwang NA,
|
||
Ho B,
|
||
Kanwar YS,
|
||
Lewis B,
|
||
Cusick M,
|
||
Friedewald JJ,
|
||
Gallon L</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2018 Feb;31(1):165-172.
|
||
Epub 2017 Feb 21
|
||
doi: 10.1007/s40620-016-0373-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28224376" target="_blank">28224376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596415">Hemolytic Uremic Syndrome in Pregnancy and Postpartum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruel A,
|
||
Kavanagh D,
|
||
Noris M,
|
||
Delmas Y,
|
||
Wong EKS,
|
||
Bresin E,
|
||
Provôt F,
|
||
Brocklebank V,
|
||
Mele C,
|
||
Remuzzi G,
|
||
Loirat C,
|
||
Frémeaux-Bacchi V,
|
||
Fakhouri F</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Aug 7;12(8):1237-1247.
|
||
Epub 2017 Jun 8
|
||
doi: 10.2215/CJN.00280117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596415" target="_blank">28596415</a><a href="/pmc/articles/PMC5544502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29167171">Advances in our understanding of the pathogenesis of hemolytic uremic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowen EE,
|
||
Coward RJ</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Renal Physiol</span>
|
||
2018 Mar 1;314(3):F454-F461.
|
||
Epub 2017 Nov 22
|
||
doi: 10.1152/ajprenal.00376.2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29167171" target="_blank">29167171</a><a href="/pmc/articles/PMC5899223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28224376">A case of atypical hemolytic uremic syndrome in a second renal transplant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zwang NA,
|
||
Ho B,
|
||
Kanwar YS,
|
||
Lewis B,
|
||
Cusick M,
|
||
Friedewald JJ,
|
||
Gallon L</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2018 Feb;31(1):165-172.
|
||
Epub 2017 Feb 21
|
||
doi: 10.1007/s40620-016-0373-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28224376" target="_blank">28224376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28056875">Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Besbas N,
|
||
Gulhan B,
|
||
Soylemezoglu O,
|
||
Ozcakar ZB,
|
||
Korkmaz E,
|
||
Hayran M,
|
||
Ozaltin F</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2017 Jan 5;18(1):6.
|
||
doi: 10.1186/s12882-016-0420-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28056875" target="_blank">28056875</a><a href="/pmc/articles/PMC5217238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25443527">Atypical hemolytic uremic syndrome: Korean pediatric series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JM,
|
||
Park YS,
|
||
Lee JH,
|
||
Park SJ,
|
||
Shin JI,
|
||
Park YH,
|
||
Yoo KH,
|
||
Cho MH,
|
||
Kim SY,
|
||
Kim SH,
|
||
Namgoong MK,
|
||
Lee SJ,
|
||
Lee JH,
|
||
Cho HY,
|
||
Han KH,
|
||
Kang HG,
|
||
Ha IS,
|
||
Bae JS,
|
||
Kim NK,
|
||
Park WY,
|
||
Cheong HI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Jun;57(3):431-8.
|
||
Epub 2015 Feb 7
|
||
doi: 10.1111/ped.12549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25443527" target="_blank">25443527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23307876">Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fremeaux-Bacchi V,
|
||
Fakhouri F,
|
||
Garnier A,
|
||
Bienaimé F,
|
||
Dragon-Durey MA,
|
||
Ngo S,
|
||
Moulin B,
|
||
Servais A,
|
||
Provot F,
|
||
Rostaing L,
|
||
Burtey S,
|
||
Niaudet P,
|
||
Deschênes G,
|
||
Lebranchu Y,
|
||
Zuber J,
|
||
Loirat C</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2013 Apr;8(4):554-62.
|
||
Epub 2013 Jan 10
|
||
doi: 10.2215/CJN.04760512.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23307876" target="_blank">23307876</a><a href="/pmc/articles/PMC3613948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201%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/36845135">An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gastoldi S,
|
||
Aiello S,
|
||
Galbusera M,
|
||
Breno M,
|
||
Alberti M,
|
||
Bresin E,
|
||
Mele C,
|
||
Piras R,
|
||
Liguori L,
|
||
Santarsiero D,
|
||
Benigni A,
|
||
Remuzzi G,
|
||
Noris M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1112257.
|
||
Epub 2023 Feb 9
|
||
doi: 10.3389/fimmu.2023.1112257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36845135" target="_blank">36845135</a><a href="/pmc/articles/PMC9949374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27194432">No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyata T,
|
||
Uchida Y,
|
||
Yoshida Y,
|
||
Kato H,
|
||
Matsumoto M,
|
||
Kokame K,
|
||
Fujimura Y,
|
||
Nangaku M</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2016 Aug;104(2):223-7.
|
||
Epub 2016 May 18
|
||
doi: 10.1007/s12185-016-2021-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27194432" target="_blank">27194432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25862562">Modified Ham test for atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavriilaki E,
|
||
Yuan X,
|
||
Ye Z,
|
||
Ambinder AJ,
|
||
Shanbhag SP,
|
||
Streiff MB,
|
||
Kickler TS,
|
||
Moliterno AR,
|
||
Sperati CJ,
|
||
Brodsky RA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2015 Jun 4;125(23):3637-46.
|
||
Epub 2015 Apr 10
|
||
doi: 10.1182/blood-2015-02-629683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25862562" target="_blank">25862562</a><a href="/pmc/articles/PMC4784297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21071971">Haemolytic uraemic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh D,
|
||
Goodship T</span><br />
|
||
<span class="medgenPMjournal">Nephron Clin Pract</span>
|
||
2011;118(1):c37-42.
|
||
Epub 2010 Nov 11
|
||
doi: 10.1159/000320901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21071971" target="_blank">21071971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20059470">Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan M,
|
||
Erlic Z,
|
||
Hoffmann MM,
|
||
Arbeiter K,
|
||
Patzer L,
|
||
Budde K,
|
||
Hoppe B,
|
||
Zeier M,
|
||
Lhotta K,
|
||
Rybicki LA,
|
||
Bock A,
|
||
Berisha G,
|
||
Neumann HP</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2010 Jan;74(1):17-26.
|
||
doi: 10.1111/j.1469-1809.2009.00554.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20059470" target="_blank">20059470</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201%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 (16)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38115241">End stage renal disease in patient with microscopic polyangiitis and atypical hemolytic-uremic syndrome arose 3 weeks after the third dose of anti-SARS-CoV2 vaccine mRNA-1273: A case report with literature revision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moronti V,
|
||
Carubbi F,
|
||
Sollima L,
|
||
Piscitani L,
|
||
Ferri C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Dec 15;102(50):e36560.
|
||
doi: 10.1097/MD.0000000000036560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38115241" target="_blank">38115241</a><a href="/pmc/articles/PMC10727565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2749604%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (56)</a></li>
|
||
<li><a href="/gtr/tests?term=C2749604%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2749604%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (125)</a></li>
|
||
<li><a href="/gtr/tests?term=C2749604%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2749604%5bDISCUI%5d" target="_blank">See all (151)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=235400" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hemolytic%20uremic%20syndrome,%20atypical,%20susceptibility%20to,%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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=(hemolytic%20uremic%20syndrome%2C%20atypical%2C%20susceptibility%20to%2C%201)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=134370%20134371%20605336" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3075[geneid]" target="_blank">View CFH variations in ClinVar</a></li><li><a href="/clinvar/?term=3078[geneid]" target="_blank">View CFHR1 variations in ClinVar</a></li><li><a href="/clinvar/?term=10878[geneid]" target="_blank">View CFHR3 variations in ClinVar</a></li><li><a href="/nuccore/163965383,261245112,269954687" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=235400" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Atypical+hemolytic-uremic+syndrome+1/7753" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hemolytic_uremic_syndrome_atypical_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hemolytic%20uremic%20syndrome,%20atypical,%20susceptibility%20to,%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301541" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/19846853" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank">NEJM, 2009</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hemolytic%20uremic%20syndrome,%20atypical,%20susceptibility%20to,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hemolytic%20uremic%20syndrome,%20atypical,%20susceptibility%20to,%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=412743" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=412743" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2749604[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2749604[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=412743" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=412743" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=412743" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=412743" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=412743" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=412743" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=412743" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<div class="portlet_content">
|
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5202f4a390645e3a6c54">Hemolytic uremic syndrome, atypical, susceptibility to, 1</a>
|
||
<div class="ralinkpop offscreen_noflow">Hemolytic uremic syndrome, atypical, susceptibility to, 1<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
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