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<meta name="keywords" content="C4225155, adult-onset autosomal recessive sideroblastic anaemia, adult-onset autosomal recessive sideroblastic anemia, anemia, sideroblastic, 3, pyridoxine-refractory, disease or syndrome, glrx5, glrx5-related sideroblastic anaemia, glrx5-related sideroblastic anemia, sidba3, sideroblastic anemia 3, sideroblastic anemia 3, pyridoxine-refractory, 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="Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by Liu et al., 2014). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=895975
|
||
ConceptID=C4225155
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sideroblastic anemia 3<span class="h1sub">(SIDBA3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895975</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:">C4225155</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>Sideroblastic anemia 3, pyridoxine-refractory</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GLRX5 - ID: 51218 - NCBI Gene" href="/gene/51218" class="medgenPMinfo">GLRX5</a> (14q32.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014804" target="_blank">MONDO:0014804</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616860" target="_blank">616860</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=255132">ORPHA255132</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">Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by Liu et al., 2014). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). [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_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</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.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%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_7368"><div><strong>Cirrhosis of liver</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7368</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.">C0023890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7368">Feature record</a> | <a href="/medgen?term=%22Cirrhosis%20of%20liver%22%5BClinical%20Features%5D%20OR%207368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868497"><div><strong>Elevated hepatic iron concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868497</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.">C4022891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased level of iron in liver tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868497">Feature record</a> | <a href="/medgen?term=%22Elevated%20hepatic%20iron%20concentration%22%5BClinical%20Features%5D%20OR%20868497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4536"><div><strong>Erythroid hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4536</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.">C0014800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4536">Feature record</a> | <a href="/medgen?term=%22Erythroid%20hyperplasia%22%5BClinical%20Features%5D%20OR%204536%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66371"><div><strong>Anisocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66371</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.">C0221278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased variability in the size of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66371">Feature record</a> | <a href="/medgen?term=%22Anisocytosis%22%5BClinical%20Features%5D%20OR%2066371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87187"><div><strong>Hypochromia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87187</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.">C0333912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87187">Feature record</a> | <a href="/medgen?term=%22Hypochromia%22%5BClinical%20Features%5D%20OR%2087187%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375398"><div><strong>Decreased mean corpuscular volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375398</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.">C0855790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375398">Feature record</a> | <a href="/medgen?term=%22Decreased%20mean%20corpuscular%20volume%22%5BClinical%20Features%5D%20OR%201375398%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41523"><div><strong>Type 2 diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41523</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.">C0011860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41523">Feature record</a> | <a href="/medgen?term=%22Type%202%20diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%2041523%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69130"><div><strong>Increased circulating ferritin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69130</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.">C0241013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of ferritin in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69130">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20ferritin%20concentration%22%5BClinical%20Features%5D%20OR%2069130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82787"><div><strong>Conjugated hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82787</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.">C0268307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally high level of conjugated bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82787">Feature record</a> | <a href="/medgen?term=%22Conjugated%20hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2082787%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_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anisocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased mean corpuscular volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythroid hyperplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypochromia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjugated hyperbilirubinemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating ferritin concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 2 diabetes mellitus</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_7368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis of liver</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated hepatic iron concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</a></span></li><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 immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225155[DISCUI]&test_type=Clinical" ref="ncbi_uid=895975">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=895975" target="_blank" href="/omim/616860">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=895975" ref="ncbi_uid=895975">V</a></span></span><span class="TLline">Sideroblastic anemia 3</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/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/65119" ref="tree=MeSH" title="MedGen record for Hereditary sideroblastic anemia">Hereditary sideroblastic anemia</a></span><ul><li><span class="matched_ds">Sideroblastic anemia 3</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/34932791">Ineffective erythropoiesis and its treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazzola M</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Apr 21;139(16):2460-2470.
|
||
doi: 10.1182/blood.2021011045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34932791" target="_blank">34932791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578956">Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey AC</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1992 May;76(3):549-66.
|
||
doi: 10.1016/s0025-7125(16)30339-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578956" target="_blank">1578956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(sideroblastic%20anemia%203)%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 (16)</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/35105856">Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangaonkar AA,
|
||
Lasho TL,
|
||
Ketterling RP,
|
||
Reichard KK,
|
||
Gangat N,
|
||
Al-Kali A,
|
||
Begna KH,
|
||
Pardanani A,
|
||
Al Ali NH,
|
||
Talati C,
|
||
Sallman D,
|
||
Padron E,
|
||
Patnaik MM,
|
||
Tefferi A,
|
||
Komrokji R</span><br />
|
||
<span class="medgenPMjournal">Blood Cancer J</span>
|
||
2022 Feb 1;12(2):26.
|
||
doi: 10.1038/s41408-022-00622-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105856" target="_blank">35105856</a><a href="/pmc/articles/PMC8807827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32340404">Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmieri F,
|
||
Scarcia P,
|
||
Monné M</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2020 Apr 23;10(4)
|
||
doi: 10.3390/biom10040655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32340404" target="_blank">32340404</a><a href="/pmc/articles/PMC7226361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326287">Heme biosynthesis and the porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips JD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Nov;128(3):164-177.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1016/j.ymgme.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326287" target="_blank">31326287</a><a href="/pmc/articles/PMC7252266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%203%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 (89)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28072603">Dyserythropoiesis of myelodysplastic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefèvre C,
|
||
Bondu S,
|
||
Le Goff S,
|
||
Kosmider O,
|
||
Fontenay M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2017 May;24(3):191-197.
|
||
doi: 10.1097/MOH.0000000000000325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28072603" target="_blank">28072603</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15009163">Mitochondriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2004 Mar;11(3):163-86.
|
||
doi: 10.1046/j.1351-5101.2003.00728.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15009163" target="_blank">15009163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578956">Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey AC</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1992 May;76(3):549-66.
|
||
doi: 10.1016/s0025-7125(16)30339-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578956" target="_blank">1578956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6410510">Copper deficiency in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams DM</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
1983 Apr;20(2):118-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6410510" target="_blank">6410510</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%203%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 (131)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21818765">Pyrazinamide-induced sideroblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colucci G,
|
||
Silzle T,
|
||
Solenthaler M</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2012 Mar;87(3):305.
|
||
Epub 2011 Aug 4
|
||
doi: 10.1002/ajh.22125.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21818765" target="_blank">21818765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578956">Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey AC</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1992 May;76(3):549-66.
|
||
doi: 10.1016/s0025-7125(16)30339-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578956" target="_blank">1578956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6410510">Copper deficiency in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams DM</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
1983 Apr;20(2):118-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6410510" target="_blank">6410510</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%203%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 (98)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29337599">Pearson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farruggia P,
|
||
Di Marco F,
|
||
Dufour C</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Hematol</span>
|
||
2018 Mar;11(3):239-246.
|
||
Epub 2018 Jan 23
|
||
doi: 10.1080/17474086.2018.1426454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29337599" target="_blank">29337599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27391606">Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malcovati L,
|
||
Cazzola M</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2016 Sep;174(6):847-58.
|
||
Epub 2016 Jul 8
|
||
doi: 10.1111/bjh.14215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27391606" target="_blank">27391606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15009163">Mitochondriopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2004 Mar;11(3):163-86.
|
||
doi: 10.1046/j.1351-5101.2003.00728.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15009163" target="_blank">15009163</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%203%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 (80)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326287">Heme biosynthesis and the porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips JD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Nov;128(3):164-177.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1016/j.ymgme.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326287" target="_blank">31326287</a><a href="/pmc/articles/PMC7252266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22760793">RARS with fibrosis and del(20q) transformed into ALL.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohr SS,
|
||
Pelloso LA,
|
||
Borgo Ados S,
|
||
de Rezende JG Jr,
|
||
Silva MR,
|
||
Yamamoto M,
|
||
de Lourdes L F Chauffaille M</span><br />
|
||
<span class="medgenPMjournal">Med Oncol</span>
|
||
2012 Dec;29(5):3570-3.
|
||
Epub 2012 Jul 4
|
||
doi: 10.1007/s12032-012-0297-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22760793" target="_blank">22760793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6410510">Copper deficiency in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams DM</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
1983 Apr;20(2):118-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6410510" target="_blank">6410510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/322458">Chromosomal abnormalities and their specificity in human neoplasms: an assessment of recent observations by banding techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mark J</span><br />
|
||
<span class="medgenPMjournal">Adv Cancer Res</span>
|
||
1977;24:165-222.
|
||
doi: 10.1016/s0065-230x(08)61015-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/322458" target="_blank">322458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%203%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 (93)</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/35984545">Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maccora I,
|
||
Ramanan AV,
|
||
Wiseman D,
|
||
Marrani E,
|
||
Mastrolia MV,
|
||
Simonini G</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2023 Jan;43(1):1-30.
|
||
Epub 2022 Aug 19
|
||
doi: 10.1007/s10875-022-01343-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35984545" target="_blank">35984545</a><a href="/pmc/articles/PMC9840570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18351340">Erythropoiesis-stimulating agents in the treatment of anemia in myelodysplastic syndromes: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moyo V,
|
||
Lefebvre P,
|
||
Duh MS,
|
||
Yektashenas B,
|
||
Mundle S</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2008 Jul;87(7):527-36.
|
||
Epub 2008 Mar 20
|
||
doi: 10.1007/s00277-008-0450-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18351340" target="_blank">18351340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10948381">The role of vitamins in the prevention and control of anaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fishman SM,
|
||
Christian P,
|
||
West KP</span><br />
|
||
<span class="medgenPMjournal">Public Health Nutr</span>
|
||
2000 Jun;3(2):125-50.
|
||
doi: 10.1017/s1368980000000173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10948381" target="_blank">10948381</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%203%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">
|
||
<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>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225155%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225155%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225155%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225155%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616860" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=255132" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Sideroblastic%20anemia%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(sideroblastic%20anemia%203)%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=609588" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=51218[geneid]" target="_blank">View GLRX5 variations in ClinVar</a></li><li><a href="/nuccore/296040434" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616860" 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/anemia_sideroblastic_3_pyridoxine_refractory" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Sideroblastic%20anemia%203" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17235/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=Sideroblastic%20anemia%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Sideroblastic%20anemia%203%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=895975" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=895975" ref="log$=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=C4225155[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225155[DISCUI]&test_type=Clinical" ref="log$=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=895975" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=895975" ref="log$=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=895975" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=895975" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ccaf73b15b832ebc67d1db">Sideroblastic anemia 3</a>
|
||
<div class="ralinkpop offscreen_noflow">Sideroblastic anemia 3<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ccaf72a68b6b5afcdf70a5">C4225155[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ccaf71f4a390645eabb6b0">C4225425[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(1)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ccaf70f4a390645eabb252">C5231435[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(2)</span></a>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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