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<meta name="keywords" content="C1862322, disease or syndrome, el4, elliptocytosis 4, elliptocytosis, stomatocytic hereditary, he, stomatocytic, hereditary ovalocytosis, melanesian elliptocytosis, melanesian ovalocytosis, ovalocytosis, hereditary hemolytic, ovalocytosis, malaysian-melanesian-filipino type, ovalocytosis, sa type, ovalocytosis, southeast asian, sao, slc4a1, southeast asian ovalocytosis, stomatocytic elliptocytosis, stomatocytic elliptocytosis, hereditary, 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="Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=350649
|
||
ConceptID=C1862322
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Southeast Asian ovalocytosis<span class="h1sub">(EL4; SAO)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350649</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:">C1862322</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elliptocytosis 4; HE, STOMATOCYTIC; Ovalocytosis, Malaysian-Melanesian-Filipino type; Stomatocytic elliptocytosis, hereditary</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Southeast Asian ovalocytosis (723623002); Melanesian ovalocytosis (723623002); Stomatocytic elliptocytosis (723623002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SLC4A1 - ID: 6521 - NCBI Gene" href="/gene/6521" class="medgenPMinfo">SLC4A1</a> (17q21.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008165" target="_blank">MONDO:0008165</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/166900" target="_blank">166900</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98868">ORPHA98868</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_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="divPopper rprt" id="clin_98107"><div><strong>Elliptocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98107</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.">C0427480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98107">Feature record</a> | <a href="/medgen?term=%22Elliptocytosis%22%5BClinical%20Features%5D%20OR%2098107%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><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_98107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elliptocytosis</a></span></li><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></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=C0013902[DISCUI]&test_type=Clinical" ref="ncbi_uid=41747">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=41747" ref="ncbi_uid=41747">V</a></span></span><span class="TLline"><a href="/medgen/41747" ref="tree=GTR&ncbi_uid=41747&link_uid=41747" title="View MedGen record for 'Hereditary elliptocytosis'">Hereditary elliptocytosis</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=C2678497[DISCUI]&test_type=Clinical" ref="ncbi_uid=394841">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394841" target="_blank" href="/omim/130500">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=394841" ref="ncbi_uid=394841">V</a></span></span><span class="TLline"><a href="/medgen/394841" ref="tree=GTR&ncbi_uid=394841&link_uid=394841" title="View MedGen record for 'Elliptocytosis 1'">Elliptocytosis 1</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=C1851741[DISCUI]&test_type=Clinical" ref="ncbi_uid=343643">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343643" target="_blank" href="/omim/130600">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=343643" ref="ncbi_uid=343643">V</a></span></span><span class="TLline"><a href="/medgen/343643" ref="tree=GTR&ncbi_uid=343643&link_uid=343643" title="View MedGen record for 'Elliptocytosis 2'">Elliptocytosis 2</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=C1866810[DISCUI]&test_type=Clinical" ref="ncbi_uid=357139">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357139" target="_blank" href="/omim/182870">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=357139" ref="ncbi_uid=357139">V</a></span></span><span class="TLline"><a href="/medgen/357139" ref="tree=GTR&ncbi_uid=357139&link_uid=357139" title="View MedGen record for 'Elliptocytosis 3'">Elliptocytosis 3</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=C1862322[DISCUI]&test_type=Clinical" ref="ncbi_uid=350649">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350649" target="_blank" href="/omim/109270">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=350649" ref="ncbi_uid=350649">V</a></span></span><span class="TLline">Southeast Asian ovalocytosis</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/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1919" ref="tree=MeSH" title="MedGen record for Familial hemolytic anemia">Familial hemolytic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/543748" ref="tree=MeSH" title="MedGen record for Anemia due to membrane defect">Anemia due to membrane defect</a></span><ul><li><span class="TLline"><a href="/medgen/41747" ref="tree=MeSH" title="MedGen record for Hereditary elliptocytosis">Hereditary elliptocytosis</a></span><ul><li><span class="matched_ds">Southeast Asian ovalocytosis</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/34489542">Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chainarong N,
|
||
Muangpaisarn W,
|
||
Suwanrath C</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
2021 Oct;41(10):2544-2548.
|
||
Epub 2021 Sep 6
|
||
doi: 10.1038/s41372-021-01202-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34489542" target="_blank">34489542</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22southeast%20asian%20ovalocytosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32936915">Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chai JF,
|
||
Kao SL,
|
||
Wang C,
|
||
Lim VJ,
|
||
Khor IW,
|
||
Dou J,
|
||
Podgornaia AI,
|
||
Chothani S,
|
||
Cheng CY,
|
||
Sabanayagam C,
|
||
Wong TY,
|
||
van Dam RM,
|
||
Liu J,
|
||
Reilly DF,
|
||
Paterson AD,
|
||
Sim X</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Dec 1;105(12)
|
||
doi: 10.1210/clinem/dgaa658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32936915" target="_blank">32936915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31364155">Advances in understanding the pathogenesis of red cell membrane disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(1):13-24.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1111/bjh.16126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31364155" target="_blank">31364155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27580023">Diffusion of glycophorin A in human erythrocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giger K,
|
||
Habib I,
|
||
Ritchie K,
|
||
Low PS</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2016 Nov;1858(11):2839-2845.
|
||
Epub 2016 Aug 28
|
||
doi: 10.1016/j.bbamem.2016.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27580023" target="_blank">27580023</a><a href="/pmc/articles/PMC5045813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16815736">Human red blood cell polymorphisms and malaria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams TN</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Microbiol</span>
|
||
2006 Aug;9(4):388-94.
|
||
Epub 2006 Jul 3
|
||
doi: 10.1016/j.mib.2006.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16815736" target="_blank">16815736</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14692233">Red blood cell membrane defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Perrotta S,
|
||
Stewart GW</span><br />
|
||
<span class="medgenPMjournal">Rev Clin Exp Hematol</span>
|
||
2003 Mar;7(1):22-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14692233" target="_blank">14692233</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Southeast%20Asian%20ovalocytosis%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37966962">Elevated MCHC reveals a Southeast Asian Ovalocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Souissi M,
|
||
Daliphard S,
|
||
Picard V,
|
||
Lebigot E,
|
||
Jardin F,
|
||
Bobée V</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2024 Feb;99(2):331-332.
|
||
Epub 2023 Nov 15
|
||
doi: 10.1002/ajh.27157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37966962" target="_blank">37966962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35871012">Southeast Asian ovalocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez Vázquez C,
|
||
López Rubio M,
|
||
Del Orbe Barreto R</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2022 Oct 14;159(7):347-348.
|
||
Epub 2022 Jul 21
|
||
doi: 10.1016/j.medcli.2022.03.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35871012" target="_blank">35871012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32936915">Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chai JF,
|
||
Kao SL,
|
||
Wang C,
|
||
Lim VJ,
|
||
Khor IW,
|
||
Dou J,
|
||
Podgornaia AI,
|
||
Chothani S,
|
||
Cheng CY,
|
||
Sabanayagam C,
|
||
Wong TY,
|
||
van Dam RM,
|
||
Liu J,
|
||
Reilly DF,
|
||
Paterson AD,
|
||
Sim X</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Dec 1;105(12)
|
||
doi: 10.1210/clinem/dgaa658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32936915" target="_blank">32936915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31364155">Advances in understanding the pathogenesis of red cell membrane disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(1):13-24.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1111/bjh.16126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31364155" target="_blank">31364155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25521998">Epistasis and the sensitivity of phenotypic screens for beta thalassaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Penman BS,
|
||
Gupta S,
|
||
Weatherall DJ</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2015 Apr;169(1):117-28.
|
||
Epub 2014 Dec 17
|
||
doi: 10.1111/bjh.13241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25521998" target="_blank">25521998</a><a href="/pmc/articles/PMC4383351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Southeast%20Asian%20ovalocytosis%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 (26)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34986796">Prevalence and aetiologies of anaemia among first trimester pregnant women in Sri Lanka; the need for revisiting the current control strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amarasinghe GS,
|
||
Agampodi TC,
|
||
Mendis V,
|
||
Malawanage K,
|
||
Kappagoda C,
|
||
Agampodi SB</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2022 Jan 6;22(1):16.
|
||
doi: 10.1186/s12884-021-04341-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34986796" target="_blank">34986796</a><a href="/pmc/articles/PMC8734253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19391452">A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vithanage JP,
|
||
Ekanayake M</span><br />
|
||
<span class="medgenPMjournal">Ceylon Med J</span>
|
||
2009 Mar;54(1):19-20.
|
||
doi: 10.4038/cmj.v54i1.469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19391452" target="_blank">19391452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10352205">Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaitwatcharachai C,
|
||
Vasuvattakul S,
|
||
Yenchitsomanus Pt,
|
||
Thuwajit P,
|
||
Malasit P,
|
||
Chuawatana D,
|
||
Mingkum S,
|
||
Halperin ML,
|
||
Wilairat P,
|
||
Nimmannit S</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
1999 Jun;33(6):1147-52.
|
||
doi: 10.1016/s0272-6386(99)70154-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10352205" target="_blank">10352205</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Southeast%20Asian%20ovalocytosis%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34986796">Prevalence and aetiologies of anaemia among first trimester pregnant women in Sri Lanka; the need for revisiting the current control strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amarasinghe GS,
|
||
Agampodi TC,
|
||
Mendis V,
|
||
Malawanage K,
|
||
Kappagoda C,
|
||
Agampodi SB</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2022 Jan 6;22(1):16.
|
||
doi: 10.1186/s12884-021-04341-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34986796" target="_blank">34986796</a><a href="/pmc/articles/PMC8734253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25758854">Risk factors for malaria and adverse birth outcomes in a prospective cohort of pregnant women resident in a high malaria transmission area of Papua New Guinea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanisic DI,
|
||
Moore KA,
|
||
Baiwog F,
|
||
Ura A,
|
||
Clapham C,
|
||
King CL,
|
||
Siba PM,
|
||
Beeson JG,
|
||
Mueller I,
|
||
Fowkes FJ,
|
||
Rogerson SJ</span><br />
|
||
<span class="medgenPMjournal">Trans R Soc Trop Med Hyg</span>
|
||
2015 May;109(5):313-24.
|
||
Epub 2015 Mar 10
|
||
doi: 10.1093/trstmh/trv019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25758854" target="_blank">25758854</a><a href="/pmc/articles/PMC6592412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17533027">Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khositseth S,
|
||
Sirikanerat A,
|
||
Wongbenjarat K,
|
||
Opastirakul S,
|
||
Khoprasert S,
|
||
Peuksungnern R,
|
||
Wattanasirichaigoon D,
|
||
Thongnoppakhun W,
|
||
Viprakasit V,
|
||
Yenchitsomanus PT</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2007 Jun;49(6):841-850.e1.
|
||
doi: 10.1053/j.ajkd.2007.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17533027" target="_blank">17533027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Southeast%20Asian%20ovalocytosis%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36791635">An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaewboonlert N,
|
||
Wattanapanitch M,
|
||
Praditsap O,
|
||
Deejai N,
|
||
Chanprasert C,
|
||
Sawasdee N,
|
||
Nettuwakul C,
|
||
Wanachiwanawin W,
|
||
Sritippayawan S,
|
||
Thamtarana PJ,
|
||
Yenchitsomanus PT,
|
||
Rungroj N</span><br />
|
||
<span class="medgenPMjournal">Stem Cell Res</span>
|
||
2023 Mar;67:103043.
|
||
Epub 2023 Feb 10
|
||
doi: 10.1016/j.scr.2023.103043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36791635" target="_blank">36791635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36250048">Band 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Meulenaere K,
|
||
Prajapati SK,
|
||
Villasis E,
|
||
Cuypers B,
|
||
Kattenberg JH,
|
||
Kasian B,
|
||
Laman M,
|
||
Robinson LJ,
|
||
Gamboa D,
|
||
Laukens K,
|
||
Rosanas-Urgell A</span><br />
|
||
<span class="medgenPMjournal">Front Cell Infect Microbiol</span>
|
||
2022;12:1011692.
|
||
Epub 2022 Sep 30
|
||
doi: 10.3389/fcimb.2022.1011692.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36250048" target="_blank">36250048</a><a href="/pmc/articles/PMC9563252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32815885">Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamsri S,
|
||
Kawon W,
|
||
Duereh A,
|
||
Fucharoen G,
|
||
Fucharoen S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2021 Apr 1;43(3):e341-e345.
|
||
doi: 10.1097/MPH.0000000000001920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32815885" target="_blank">32815885</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27580023">Diffusion of glycophorin A in human erythrocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giger K,
|
||
Habib I,
|
||
Ritchie K,
|
||
Low PS</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2016 Nov;1858(11):2839-2845.
|
||
Epub 2016 Aug 28
|
||
doi: 10.1016/j.bbamem.2016.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27580023" target="_blank">27580023</a><a href="/pmc/articles/PMC5045813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12118458">Malaria species and Southeast Asian ovalocytosis defined by a 27-bp deletion in the erythrocyte band 3 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kimura M,
|
||
Soemantri A,
|
||
Ishida T</span><br />
|
||
<span class="medgenPMjournal">Southeast Asian J Trop Med Public Health</span>
|
||
2002 Mar;33(1):4-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12118458" target="_blank">12118458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Southeast%20Asian%20ovalocytosis%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 (19)</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">
|
||
<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=C1862322%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C1862322%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1862322%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C1862322%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1862322%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=166900" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98868" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Southeast%20Asian%20ovalocytosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22southeast%20asian%20ovalocytosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></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=109270" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6521[geneid]" target="_blank">View SLC4A1 variations in ClinVar</a></li><li><a href="/nuccore/171460929" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=166900" 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="https://www.malacards.org/card/ovalocytosis_southeast_asian" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Southeast%20Asian%20ovalocytosis" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16867/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</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/clinical?term=Southeast%20Asian%20ovalocytosis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Southeast%20Asian%20ovalocytosis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" 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=350649" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=350649" ref="log$=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=C1862322[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1862322[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=350649" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=350649" ref="log$=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=350649" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=350649" ref="log$=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=350649" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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