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<meta name="keywords" content="C4746970, atp11c, disease or syndrome, hacxl, hemolytic anemia, congenital, x-linked, hemolytic anemia, congenital, x-linked, x-linked recessive, x-linked congenital hemolytic anemia, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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|
||
<!--
|
||
UID=1648376
|
||
ConceptID=C4746970
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">X-linked congenital hemolytic anemia<span class="h1sub">(HACXL)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648376</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:">C4746970</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HACXL</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ATP11C - ID: 286410 - NCBI Gene" href="/gene/286410" class="medgenPMinfo">ATP11C</a> (Xq27.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0060455" target="_blank">MONDO:0060455</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/301015" target="_blank">301015</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_102">
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||
<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_604849"><div><strong>Dark urine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>604849</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.">C0426396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal dark color of the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/604849">Feature record</a> | <a href="/medgen?term=%22Dark%20urine%22%5BClinical%20Features%5D%20OR%20604849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%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_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li></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_604849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dark urine</a></span></li></ul></li></ul></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/34524523">ATR-X syndrome: genetics, clinical spectrum, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">León NY,
|
||
Harley VR</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Dec;140(12):1625-1634.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1007/s00439-021-02361-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34524523" target="_blank">34524523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34285390">Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregg AR,
|
||
Aarabi M,
|
||
Klugman S,
|
||
Leach NT,
|
||
Bashford MT,
|
||
Goldwaser T,
|
||
Chen E,
|
||
Sparks TN,
|
||
Reddi HV,
|
||
Rajkovic A,
|
||
Dungan JS;
|
||
ACMG Professional Practice and Guidelines Committee</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Oct;23(10):1793-1806.
|
||
Epub 2021 Jul 20
|
||
doi: 10.1038/s41436-021-01203-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34285390" target="_blank">34285390</a><a href="/pmc/articles/PMC8488021" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16225031">Diagnosis and management of G6PD deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frank JE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2005 Oct 1;72(7):1277-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16225031" target="_blank">16225031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(x-linked%20congenital%20hemolytic%20anemia)%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 (20)</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/34285390">Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregg AR,
|
||
Aarabi M,
|
||
Klugman S,
|
||
Leach NT,
|
||
Bashford MT,
|
||
Goldwaser T,
|
||
Chen E,
|
||
Sparks TN,
|
||
Reddi HV,
|
||
Rajkovic A,
|
||
Dungan JS;
|
||
ACMG Professional Practice and Guidelines Committee</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Oct;23(10):1793-1806.
|
||
Epub 2021 Jul 20
|
||
doi: 10.1038/s41436-021-01203-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34285390" target="_blank">34285390</a><a href="/pmc/articles/PMC8488021" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28988250">Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elella SA,
|
||
Tawfik M,
|
||
Barseem N,
|
||
Moustafa W</span><br />
|
||
<span class="medgenPMjournal">Ann Saudi Med</span>
|
||
2017 Sep-Oct;37(5):362-365.
|
||
doi: 10.5144/0256-4947.2017.362.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28988250" target="_blank">28988250</a><a href="/pmc/articles/PMC6074198" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16273735">Acquired haemoglobin H disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alli NA</span><br />
|
||
<span class="medgenPMjournal">Hematology</span>
|
||
2005 Oct;10(5):413-8.
|
||
doi: 10.1080/10245330500141689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16273735" target="_blank">16273735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4972924">Autoimmune hemolytic anemia in a child with congenital x-linked hypogammaglobulinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robbins JB,
|
||
Skinner RG,
|
||
Pearson HA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1969 Jan 9;280(2):75-9.
|
||
doi: 10.1056/NEJM196901092800205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4972924" target="_blank">4972924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5303926">X-linked haematological traits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerr CB</span><br />
|
||
<span class="medgenPMjournal">Bibl Haematol</span>
|
||
1968;29:59-70.
|
||
doi: 10.1159/000384594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5303926" target="_blank">5303926</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20congenital%20hemolytic%20anemia%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 (101)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36031702">Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aiello S,
|
||
Mancardi MM,
|
||
Romano A,
|
||
Santucci M,
|
||
Scaduto MC,
|
||
Vari MS,
|
||
Striano P,
|
||
Operto FF,
|
||
Elia M,
|
||
Vitiello G,
|
||
Del Giudice E,
|
||
Terrone G</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Sep;40:69-72.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1016/j.ejpn.2022.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36031702" target="_blank">36031702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29305344">Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belfield KD,
|
||
Tichy EM</span><br />
|
||
<span class="medgenPMjournal">Am J Health Syst Pharm</span>
|
||
2018 Feb 1;75(3):97-104.
|
||
Epub 2018 Jan 5
|
||
doi: 10.2146/ajhp160961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29305344" target="_blank">29305344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27040960">Glucose-6-Phosphate Dehydrogenase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luzzatto L,
|
||
Nannelli C,
|
||
Notaro R</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2016 Apr;30(2):373-93.
|
||
doi: 10.1016/j.hoc.2015.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27040960" target="_blank">27040960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622180">X-linked mental deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">des Portes V</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:297-306.
|
||
doi: 10.1016/B978-0-444-52891-9.00035-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622180" target="_blank">23622180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16225031">Diagnosis and management of G6PD deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frank JE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2005 Oct 1;72(7):1277-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16225031" target="_blank">16225031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20congenital%20hemolytic%20anemia%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 (132)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37258262">Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aung JM,
|
||
Moon Z,
|
||
VanBik D,
|
||
Dinzouna-Boutamba SD,
|
||
Lee S,
|
||
Ring Z,
|
||
Chung DI,
|
||
Hong Y,
|
||
Goo YK</span><br />
|
||
<span class="medgenPMjournal">Parasites Hosts Dis</span>
|
||
2023 May;61(2):154-162.
|
||
Epub 2023 May 23
|
||
doi: 10.3347/PHD.23004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37258262" target="_blank">37258262</a><a href="/pmc/articles/PMC10234822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33326820">Current investigations on clinical pharmacology and therapeutics of Glucose-6-phosphate dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryan K,
|
||
Tekwani BL</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2021 Jun;222:107788.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1016/j.pharmthera.2020.107788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33326820" target="_blank">33326820</a><a href="/pmc/articles/PMC8122012" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29305344">Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belfield KD,
|
||
Tichy EM</span><br />
|
||
<span class="medgenPMjournal">Am J Health Syst Pharm</span>
|
||
2018 Feb 1;75(3):97-104.
|
||
Epub 2018 Jan 5
|
||
doi: 10.2146/ajhp160961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29305344" target="_blank">29305344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20008255">Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Persons DA</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2009:690-7.
|
||
doi: 10.1182/asheducation-2009.1.690.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20008255" target="_blank">20008255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4972924">Autoimmune hemolytic anemia in a child with congenital x-linked hypogammaglobulinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robbins JB,
|
||
Skinner RG,
|
||
Pearson HA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1969 Jan 9;280(2):75-9.
|
||
doi: 10.1056/NEJM196901092800205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4972924" target="_blank">4972924</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20congenital%20hemolytic%20anemia%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37625115">Sirtuin 2 inhibition modulates chromatin landscapes genome-wide to induce senescence in ATRX-deficient malignant glioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malgulwar PB,
|
||
Danussi C,
|
||
Dharmaiah S,
|
||
Johnson W,
|
||
Singh A,
|
||
Rai K,
|
||
Rao A,
|
||
Huse JT</span><br />
|
||
<span class="medgenPMjournal">Neuro Oncol</span>
|
||
2024 Jan 5;26(1):55-67.
|
||
doi: 10.1093/neuonc/noad155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37625115" target="_blank">37625115</a><a href="/pmc/articles/PMC10769000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34693927">Incorporating G6PD genotyping to identify patients with G6PD deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris SA,
|
||
Crews KR,
|
||
Hayden RT,
|
||
Takemoto CM,
|
||
Yang W,
|
||
Baker DK,
|
||
Broeckel U,
|
||
Relling MV,
|
||
Haidar CE</span><br />
|
||
<span class="medgenPMjournal">Pharmacogenet Genomics</span>
|
||
2022 Apr 1;32(3):87-93.
|
||
doi: 10.1097/FPC.0000000000000456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34693927" target="_blank">34693927</a><a href="/pmc/articles/PMC8976699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34330696">A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallik N,
|
||
Singh N,
|
||
Jamwal M,
|
||
Chhabra S,
|
||
Hira JK,
|
||
Malhotra P,
|
||
Das R,
|
||
Sharma P</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet</span>
|
||
2022 Jan;260-261:53-56.
|
||
Epub 2021 Jul 20
|
||
doi: 10.1016/j.cancergen.2021.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34330696" target="_blank">34330696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33849943">Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hackeng WM,
|
||
Brosens LAA,
|
||
Kim JY,
|
||
O'Sullivan R,
|
||
Sung YN,
|
||
Liu TC,
|
||
Cao D,
|
||
Heayn M,
|
||
Brosnan-Cashman J,
|
||
An S,
|
||
Morsink FHM,
|
||
Heidsma CM,
|
||
Valk GD,
|
||
Vriens MR,
|
||
Nieveen van Dijkum E,
|
||
Offerhaus GJA,
|
||
Dreijerink KMA,
|
||
Zeh H,
|
||
Zureikat AH,
|
||
Hogg M,
|
||
Lee K,
|
||
Geller D,
|
||
Marsh JW,
|
||
Paniccia A,
|
||
Ongchin M,
|
||
Pingpank JF,
|
||
Bahary N,
|
||
Aijazi M,
|
||
Brand R,
|
||
Chennat J,
|
||
Das R,
|
||
Fasanella KE,
|
||
Khalid A,
|
||
McGrath K,
|
||
Sarkaria S,
|
||
Singh H,
|
||
Slivka A,
|
||
Nalesnik M,
|
||
Han X,
|
||
Nikiforova MN,
|
||
Lawlor RT,
|
||
Mafficini A,
|
||
Rusev B,
|
||
Corbo V,
|
||
Luchini C,
|
||
Bersani S,
|
||
Pea A,
|
||
Cingarlini S,
|
||
Landoni L,
|
||
Salvia R,
|
||
Milione M,
|
||
Milella M,
|
||
Scarpa A,
|
||
Hong SM,
|
||
Heaphy CM,
|
||
Singhi AD</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2022 May;71(5):961-973.
|
||
Epub 2021 Apr 13
|
||
doi: 10.1136/gutjnl-2020-322595.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33849943" target="_blank">33849943</a><a href="/pmc/articles/PMC8511349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29672516">Use of primaquine and glucose-6-phosphate dehydrogenase deficiency testing: Divergent policies and practices in malaria endemic countries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Recht J,
|
||
Ashley EA,
|
||
White NJ</span><br />
|
||
<span class="medgenPMjournal">PLoS Negl Trop Dis</span>
|
||
2018 Apr;12(4):e0006230.
|
||
Epub 2018 Apr 19
|
||
doi: 10.1371/journal.pntd.0006230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29672516" target="_blank">29672516</a><a href="/pmc/articles/PMC5908060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20congenital%20hemolytic%20anemia%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 (44)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35068323">Concurrence of glucose-6-phosphate dehydrogenase deficiency in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarkar A,
|
||
Rohilla M,
|
||
Kumari S</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2022 Jul;42(5):747-750.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1080/01443615.2021.2024157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35068323" target="_blank">35068323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29619482">A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alaithan MA,
|
||
AbdulAzeez S,
|
||
Borgio JF</span><br />
|
||
<span class="medgenPMjournal">Saudi Med J</span>
|
||
2018 Apr;39(4):329-335.
|
||
doi: 10.15537/smj.2018.4.21360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29619482" target="_blank">29619482</a><a href="/pmc/articles/PMC5938644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23114596">Compromised genomic integrity impedes muscle growth after Atrx inactivation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huh MS,
|
||
Price O'Dea T,
|
||
Ouazia D,
|
||
McKay BC,
|
||
Parise G,
|
||
Parks RJ,
|
||
Rudnicki MA,
|
||
Picketts DJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2012 Dec;122(12):4412-23.
|
||
Epub 2012 Nov 1
|
||
doi: 10.1172/JCI63765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23114596" target="_blank">23114596</a><a href="/pmc/articles/PMC3533543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23028133">α-Thalassemia, mental retardation, and myelodysplastic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibbons RJ</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
|
||
2012 Oct 1;2(10)
|
||
doi: 10.1101/cshperspect.a011759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23028133" target="_blank">23028133</a><a href="/pmc/articles/PMC3475406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10872473">Alpha-thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernini LF,
|
||
Harteveld CL</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1998 Mar;11(1):53-90.
|
||
doi: 10.1016/s0950-3536(98)80070-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10872473" target="_blank">10872473</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20congenital%20hemolytic%20anemia%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 (74)</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/39041728">Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iyer NS,
|
||
Mossayebi MH,
|
||
Gao TJ,
|
||
Haizler-Cohen L,
|
||
Di Mascio D,
|
||
McLaren RA Jr,
|
||
Al-Kouatly HB</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Jul;12(7):e2491.
|
||
doi: 10.1002/mgg3.2491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39041728" target="_blank">39041728</a><a href="/pmc/articles/PMC11264253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34524523">ATR-X syndrome: genetics, clinical spectrum, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">León NY,
|
||
Harley VR</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Dec;140(12):1625-1634.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1007/s00439-021-02361-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34524523" target="_blank">34524523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28382932">Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mbanefo EC,
|
||
Ahmed AM,
|
||
Titouna A,
|
||
Elmaraezy A,
|
||
Trang NT,
|
||
Phuoc Long N,
|
||
Hoang Anh N,
|
||
Diem Nghi T,
|
||
The Hung B,
|
||
Van Hieu M,
|
||
Ky Anh N,
|
||
Huy NT,
|
||
Hirayama K</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Apr 6;7:45963.
|
||
doi: 10.1038/srep45963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28382932" target="_blank">28382932</a><a href="/pmc/articles/PMC5382680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20congenital%20hemolytic%20anemia%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 (3)</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">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4746970%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4746970%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4746970%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4746970%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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</ul></div>
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</div>
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||
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||
<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=301015" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=X-linked%20congenital%20hemolytic%20anemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(x-linked%20congenital%20hemolytic%20anemia)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22X-linked%20congenital%20hemolytic%20anemia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_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>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300516" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=286410[geneid]" target="_blank">View ATP11C variations in ClinVar</a></li><li><a href="/nuccore/289177056" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=301015" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
||
|
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hemolytic_anemia_congenital_x_linked" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=X-linked%20congenital%20hemolytic%20anemia" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
</div>
|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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</div>
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<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>
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<div class="portlet_content">
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<ul>
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||
<li>
|
||
<a href="/pubmed/clinical?term=X-linked%20congenital%20hemolytic%20anemia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=X-linked%20congenital%20hemolytic%20anemia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
</li>
|
||
</ul>
|
||
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||
</div>
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||
|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
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||
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648376" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1648376" ref="log$=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=C4746970[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4746970[DISCUI]&test_type=Clinical" ref="log$=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=1648376" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1648376" ref="log$=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=1648376" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1648376" ref="log$=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_omim&from_uid=1648376" 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">
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||
<div class="portlet_title">
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<h3>Recent activity</h3>
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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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<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
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</ul>
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||
</nav>
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</div>
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</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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