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<meta name="keywords" content="C5194182, anemia, microcytic, disease or syndrome, microcytic anaemia, microcytic anemia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A kind of anemia in which the volume of the red blood cells is reduced." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Microcytic anemia (Concept Id: C5194182)
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<!--
UID=1673948
ConceptID=C5194182
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microcytic anemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673948</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.">C5194182</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>Anemia, microcytic</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Microcytic anemia (234349007)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/164656">TMPRSS6</a>, <a target="_blank" href="/gene/55240">STEAP3</a>, <a target="_blank" href="/gene/4891">SLC11A2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001935">HP:0001935</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0001245" target="_blank">MONDO:0001245</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">A kind of anemia in which the volume of the red blood cells is reduced. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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=C5194182[DISCUI]&test_type=Clinical" ref="ncbi_uid=1673948">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5194182[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1673948">R</a></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=1673948" ref="ncbi_uid=1673948">V</a></span></span><span class="TLline">Microcytic anemia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0014761[DISCUI]&test_type=Clinical" ref="ncbi_uid=4530">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=4530" ref="ncbi_uid=4530">V</a></span></span><span class="TLline"><a href="/medgen/4530" ref="tree=GTR&ncbi_uid=4530&link_uid=4530" title="View MedGen record for 'Hemolytic disease of fetus OR newborn due to isoimmunization'">Hemolytic disease of fetus OR newborn due to isoimmunization</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=C0271901[DISCUI]&test_type=Clinical" ref="ncbi_uid=124413">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/124413" ref="tree=GTR&ncbi_uid=124413&link_uid=124413" title="View MedGen record for 'Hypochromic microcytic anemia'">Hypochromic microcytic anemia</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=C2673913[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=388759">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=388759" target="_blank" href="/omim/600523">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/388759" ref="tree=GTR&ncbi_uid=388759&link_uid=388759" title="View MedGen record for 'Anemia, hypochromic microcytic with iron overload'">Anemia, hypochromic microcytic with iron overload</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=C3806153[DISCUI]&test_type=Clinical" ref="ncbi_uid=812483">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3806153[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=812483">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=812483" target="_blank" href="/omim/206100">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=812483" ref="ncbi_uid=812483">V</a></span></span><span class="TLline"><a href="/medgen/812483" ref="tree=GTR&ncbi_uid=812483&link_uid=812483" title="View MedGen record for 'Microcytic anemia with liver iron overload'">Microcytic anemia with liver iron overload</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=C3808920[DISCUI]&test_type=Clinical" ref="ncbi_uid=815250">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815250" target="_blank" href="/omim/609671">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=815250" ref="ncbi_uid=815250">V</a></span></span><span class="TLline"><a href="/medgen/815250" ref="tree=GTR&ncbi_uid=815250&link_uid=815250" title="View MedGen record for 'Severe congenital hypochromic anemia with ringed sideroblasts'">Severe congenital hypochromic anemia with ringed sideroblasts</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162316[DISCUI]&test_type=Clinical" ref="ncbi_uid=57668">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=57668" ref="ncbi_uid=57668">V</a></span></span><span class="TLline"><a href="/medgen/57668" ref="tree=GTR&ncbi_uid=57668&link_uid=57668" title="View MedGen record for 'Iron deficiency anemia'">Iron deficiency anemia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085576[DISCUI]&test_type=Clinical" ref="ncbi_uid=39081">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=39081" target="_blank" href="/omim/206200">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=39081" ref="ncbi_uid=39081">V</a></span></span><span class="TLline"><a href="/medgen/39081" ref="tree=GTR&ncbi_uid=39081&link_uid=39081" title="View MedGen record for 'Iron-refractory iron deficiency anemia'">Iron-refractory iron deficiency anemia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/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="matched_ds">Microcytic anemia</span><ul><li><span class="TLline"><a href="/medgen/4530" ref="tree=MeSH" title="MedGen record for Hemolytic disease of fetus OR newborn due to isoimmunization">Hemolytic disease of fetus OR newborn due to isoimmunization</a></span><ul><li><span class="TLline"><a href="/medgen/859621" ref="tree=MeSH" title="MedGen record for Anti-D Hemolytic Disease of the Newborn">Anti-D Hemolytic Disease of the Newborn</a></span></li><li><span class="TLline"><a href="/medgen/44018" ref="tree=MeSH" title="MedGen record for Bilirubin encephalopathy">Bilirubin encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1808922" ref="tree=MeSH" title="MedGen record for Acute bilirubin encephalopathy">Acute bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1806573" ref="tree=MeSH" title="MedGen record for Chronic bilirubin encephalopathy">Chronic bilirubin encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/542597" ref="tree=MeSH" title="MedGen record for Kernicterus due to isoimmunization">Kernicterus due to isoimmunization</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/542596" ref="tree=MeSH" title="MedGen record for Hemolytic disease of fetus OR newborn due to ABO immunization">Hemolytic disease of fetus OR newborn due to ABO immunization</a></span></li><li><span class="TLline"><a href="/medgen/6947" ref="tree=MeSH" title="MedGen record for Hydrops fetalis">Hydrops fetalis</a></span><ul><li><span class="TLline"><a href="/medgen/105328" ref="tree=MeSH" title="MedGen record for Immune hydrops fetalis">Immune hydrops fetalis</a></span></li><li><span class="TLline"><a href="/medgen/105327" ref="tree=MeSH" title="MedGen record for Non-immune hydrops fetalis">Non-immune hydrops fetalis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/810688" ref="tree=MeSH" title="MedGen record for Rhesus Hemolytic Disease of the Newborn">Rhesus Hemolytic Disease of the Newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124413" ref="tree=MeSH" title="MedGen record for Hypochromic microcytic anemia">Hypochromic microcytic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/388759" ref="tree=MeSH" title="MedGen record for Anemia, hypochromic microcytic with iron overload">Anemia, hypochromic microcytic with iron overload</a></span><ul><li><span class="TLline"><a href="/medgen/812483" ref="tree=MeSH" title="MedGen record for Microcytic anemia with liver iron overload">Microcytic anemia with liver iron overload</a></span></li><li><span class="TLline"><a href="/medgen/815250" ref="tree=MeSH" title="MedGen record for Severe congenital hypochromic anemia with ringed sideroblasts">Severe congenital hypochromic anemia with ringed sideroblasts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57668" ref="tree=MeSH" title="MedGen record for Iron deficiency anemia">Iron deficiency anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/39081" ref="tree=MeSH" title="MedGen record for Iron-refractory iron deficiency anemia">Iron-refractory iron deficiency anemia</a></span></li><li><span class="TLline"><a href="/medgen/78789" ref="tree=MeSH" title="MedGen record for Normochromic microcytic anemia">Normochromic microcytic anemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_78650"><div><strong>Niemann-Pick disease, type A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78650</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.">C0268242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). Enzyme replacement therapy (ERT) is currently FDA approved for the non-central nervous system manifestations of ASMD, regardless of type. As more affected individuals are treated with ERT for longer periods of time, the natural history of ASMD is likely to change. The most common presenting symptom in untreated NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Growth failure typically becomes evident by the second year of life. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. This feature may not be amenable to ERT. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children, although it is unclear if ERT will have an impact on this. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most untreated children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized in untreated individuals by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some central nervous system manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B, even when untreated.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78650">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346801"><div><strong>Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346801</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.">C1858361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) is a rare autosomal dominant autoinflammatory disease that typically presents with recurrent sterile, erosive arthritis in childhood, occurring spontaneously or after minor trauma, occasionally resulting in significant joint destruction. By puberty, joint symptoms tend to subside and cutaneous symptoms predominate, including pathergy, frequently with abscesses at the sites of injections, severe cystic acne, and recurrent nonhealing sterile ulcers, often diagnosed as pyoderma gangrenosum (summary by Demidowich et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346801">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347036"><div><strong>Dominant beta-thalassemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347036</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.">C1858990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dominantly inherited inclusion body beta-thalassemia is characterized by the presence of inclusion bodies in red blood cell precursors, moderately severe anemia, jaundice, and splenomegaly (summary by Ropero et al., 2005).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347036">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_351273"><div><strong>Majeed syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351273</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.">C1864997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with LPIN2-related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic sterile multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Recurrent bone pain is frequently localized near the joints, often of the long bones of the lower extremities. Recurrent osteomyelitis with joint swelling can lead to subsequent joint contractures. Congenital dyserythropoietic, microcytic anemia can range from mild to severe and sometimes requires blood transfusion. Neutrophilic dermatosis typically presents as transient painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates. Other features of LPIN2-related Majeed syndrome include the development of hepatosplenomegaly and gastrointestinal symptoms, such as recurrent abdominal pain and/or recurrent diarrhea. As more families are being described, individuals with milder features are now being recognized.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/351273">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370148"><div><strong>Craniofacial dysplasia - osteopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370148</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.">C1970027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370148">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_413170"><div><strong>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413170</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.">C2749864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (SUCLA2-related mtDNA depletion syndrome) is characterized by onset of the following features in infancy: developmental delay, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, growth failure, and feeding difficulties. Other less frequent features include choreoathetosis, muscle weakness, recurrent vomiting, ptosis, and kyphoscoliosis. The median survival is age 20 years; approximately 30% of affected individuals succumb during childhood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/413170">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1392124"><div><strong>SRD5A3-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392124</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.">C4317224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this condition's features vary widely among affected individuals.\n\nIndividuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia). \n\nVision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma).\n\nOther features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1392124">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1634824"><div><strong>Myopathy, lactic acidosis, and sideroblastic anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634824</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.">C4551958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1634824">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648310"><div><strong>Proteasome-associated autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648310</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.">C4746851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648310">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1676579"><div><strong>Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676579</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.">C5193104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency (Costain et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1676579">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1679560"><div><strong>Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1679560</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.">C5193223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function (summary by Gurgel-Giannetti et al., 2018)</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1679560">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1710207"><div><strong>Triokinase and FMN cyclase deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710207</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.">C5394125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1710207">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1713890"><div><strong>Mitochondrial DNA depletion syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713890</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.">C5394140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, 253300) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; 204750), which is caused by mutation in the DHTKD1 gene (614984) (summary by Boczonadi et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1713890">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1719052"><div><strong>Autoinflammation with episodic fever and lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719052</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.">C5394286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 (147620) and TNF (191160), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R (147880) antibodies may result in clinical improvement (summary by Lalaoui et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1719052">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1770258"><div><strong>Mitochondrial DNA depletion syndrome 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770258</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.">C5436514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1770258">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1770895"><div><strong>Rajab interstitial lung disease with brain calcifications 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770895</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.">C5436603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1770895">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794196"><div><strong>Congenital disorder of glycosylation, type IIw</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794196</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.">C5561986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794196">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1802872"><div><strong>Immunodeficiency 94 with autoinflammation and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802872</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.">C5676918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-94 with autoinflammation and dysmorphic facies (IMD94) is a systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. Intellectual development is normal and serum IgE is not elevated. The disease results from constitutive activation of the IL6 signaling cascade, resulting in immune dysregulation and a hyperinflammatory state (summary by Materna-Kiryluk et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1802872">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1855512"><div><strong>Autoinflammation with arthritis and vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855512</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.">C5935634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoinflammation with arthritis and vasculitis (AIARV) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis. Laboratory studies are consistent with an inflammatory state. Although patients may have recurrent infections, the infections are not severe. Additional features may include poor overall growth, microcytic anemia, mildly impaired intellectual development, seizures, and variable brain imaging abnormalities. Treatment with TNF (191160) inhibitors may result in clinical improvement (Taft et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1855512">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation with arthritis and vasculitis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1719052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation with episodic fever and lymphadenopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIw</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial dysplasia - osteopenia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dominant beta-thalassemia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 94 with autoinflammation and dysmorphic facies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Majeed syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 18</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 19</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1679560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, lactic acidosis, and sideroblastic anemia 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1676579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1392124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SRD5A3-congenital disorder of glycosylation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1710207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triokinase and FMN cyclase deficiency syndrome</a></div></span></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/30037447">Emergency Medicine Evaluation and Management of Anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Long B,
Koyfman A</span><br />
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
2018 Aug;36(3):609-630.
Epub 2018 Jun 12
doi: 10.1016/j.emc.2018.04.009.
<span class="bold">PMID: </span><a href="/pubmed/30037447" target="_blank">30037447</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28528999">Clinical management of iron deficiency anemia in adults: Systemic review on advances in diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Franceschi L,
Iolascon A,
Taher A,
Cappellini MD</span><br />
<span class="medgenPMjournal">Eur J Intern Med</span>
2017 Jul;42:16-23.
Epub 2017 May 18
doi: 10.1016/j.ejim.2017.04.018.
<span class="bold">PMID: </span><a href="/pubmed/28528999" target="_blank">28528999</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=(%22microcytic%20anemia%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 (33)</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/35289581">Alpha- and Beta-thalassemia: Rapid Evidence Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baird DC,
Batten SH,
Sparks SK</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2022 Mar 1;105(3):272-280.
<span class="bold">PMID: </span><a href="/pubmed/35289581" target="_blank">35289581</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30252420">Anemia in Older Adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lanier JB,
Park JJ,
Callahan RC</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2018 Oct 1;98(7):437-442.
<span class="bold">PMID: </span><a href="/pubmed/30252420" target="_blank">30252420</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28400547">Anemia in thyroid diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Szczepanek-Parulska E,
Hernik A,
Ruchała M</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2017 May 31;127(5):352-360.
Epub 2017 Mar 28
doi: 10.20452/pamw.3985.
<span class="bold">PMID: </span><a href="/pubmed/28400547" target="_blank">28400547</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26926814">Iron Deficiency and Other Types of Anemia in Infants and Children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang M</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2016 Feb 15;93(4):270-8.
<span class="bold">PMID: </span><a href="/pubmed/26926814" target="_blank">26926814</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25271605">Microcytic anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeLoughery TG</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2014 Oct 2;371(14):1324-31.
doi: 10.1056/NEJMra1215361.
<span class="bold">PMID: </span><a href="/pubmed/25271605" target="_blank">25271605</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcytic%20anemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (184)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28400547">Anemia in thyroid diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Szczepanek-Parulska E,
Hernik A,
Ruchała M</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2017 May 31;127(5):352-360.
Epub 2017 Mar 28
doi: 10.20452/pamw.3985.
<span class="bold">PMID: </span><a href="/pubmed/28400547" target="_blank">28400547</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26926814">Iron Deficiency and Other Types of Anemia in Infants and Children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang M</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2016 Feb 15;93(4):270-8.
<span class="bold">PMID: </span><a href="/pubmed/26926814" target="_blank">26926814</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25271605">Microcytic anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeLoughery TG</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2014 Oct 2;371(14):1324-31.
doi: 10.1056/NEJMra1215361.
<span class="bold">PMID: </span><a href="/pubmed/25271605" target="_blank">25271605</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17197454">Microcytic anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson M</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2007 Jan;28(1):5-14.
doi: 10.1542/pir.28-1-5.
<span class="bold">PMID: </span><a href="/pubmed/17197454" target="_blank">17197454</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=%22Microcytic%20anemia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (358)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/30252420">Anemia in Older Adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lanier JB,
Park JJ,
Callahan RC</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2018 Oct 1;98(7):437-442.
<span class="bold">PMID: </span><a href="/pubmed/30252420" target="_blank">30252420</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25271605">Microcytic anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeLoughery TG</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2014 Oct 2;371(14):1324-31.
doi: 10.1056/NEJMra1215361.
<span class="bold">PMID: </span><a href="/pubmed/25271605" target="_blank">25271605</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20540485">Evaluation of anemia in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Janus J,
Moerschel SK</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2010 Jun 15;81(12):1462-71.
<span class="bold">PMID: </span><a href="/pubmed/20540485" target="_blank">20540485</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17375513">Iron deficiency anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Killip S,
Bennett JM,
Chambers MD</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2007 Mar 1;75(5):671-8.
<span class="bold">PMID: </span><a href="/pubmed/17375513" target="_blank">17375513</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=%22Microcytic%20anemia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (143)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39587636">Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guo Z,
Huo D,
Shao Y,
Yang W,
Wang J,
Zhang Y,
Xiao H,
Hao B,
Liao S</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Nov 25;19(1):435.
doi: 10.1186/s13023-024-03465-7.
<span class="bold">PMID: </span><a href="/pubmed/39587636" target="_blank">39587636</a><a href="/pmc/articles/PMC11587613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28400547">Anemia in thyroid diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Szczepanek-Parulska E,
Hernik A,
Ruchała M</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2017 May 31;127(5):352-360.
Epub 2017 Mar 28
doi: 10.20452/pamw.3985.
<span class="bold">PMID: </span><a href="/pubmed/28400547" target="_blank">28400547</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27212091">Evaluation of Anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kujovich JL</span><br />
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
2016 Jun;43(2):247-64.
Epub 2016 Mar 18
doi: 10.1016/j.ogc.2016.01.009.
<span class="bold">PMID: </span><a href="/pubmed/27212091" target="_blank">27212091</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24862060">An unusual cause of chronic diarrhoea.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deesomsak M,
Sawanyawisuth K,
Prachayakul V</span><br />
<span class="medgenPMjournal">Trop Biomed</span>
2014 Mar;31(1):187-9.
<span class="bold">PMID: </span><a href="/pubmed/24862060" target="_blank">24862060</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2983438">Carcinoma of the duodenum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gaddy M,
Max MH</span><br />
<span class="medgenPMjournal">South Med J</span>
1985 Feb;78(2):150-2.
doi: 10.1097/00007611-198502000-00007.
<span class="bold">PMID: </span><a href="/pubmed/2983438" target="_blank">2983438</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcytic%20anemia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (108)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39587636">Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guo Z,
Huo D,
Shao Y,
Yang W,
Wang J,
Zhang Y,
Xiao H,
Hao B,
Liao S</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Nov 25;19(1):435.
doi: 10.1186/s13023-024-03465-7.
<span class="bold">PMID: </span><a href="/pubmed/39587636" target="_blank">39587636</a><a href="/pmc/articles/PMC11587613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38748599">Severe Unexplained Iron Deficiency Anemia in Children: High Yield of Upper Gastrointestinal Endoscopy Regardless of Gastrointestinal Symptoms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuran N,
Ben-Ami T,
Kori M</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2024 Jul 1;46(5):248-251.
Epub 2024 May 13
doi: 10.1097/MPH.0000000000002863.
<span class="bold">PMID: </span><a href="/pubmed/38748599" target="_blank">38748599</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35443539">Differentiation between Anemia of Chronic Disease and Iron Deficiency Anemia Using Newer Erythrocyte Parameters.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Makharia A,
Makharia A,
Lalwani P,
Barupal KG,
Tiwari V,
Lakhotia M</span><br />
<span class="medgenPMjournal">J Assoc Physicians India</span>
2022 Apr;70(4):11-12.
<span class="bold">PMID: </span><a href="/pubmed/35443539" target="_blank">35443539</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27212091">Evaluation of Anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kujovich JL</span><br />
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
2016 Jun;43(2):247-64.
Epub 2016 Mar 18
doi: 10.1016/j.ogc.2016.01.009.
<span class="bold">PMID: </span><a href="/pubmed/27212091" target="_blank">27212091</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6422572">Aluminum, parathyroid hormone, and osteomalacia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Burnatowska-Hledin MA,
Kaiser L,
Mayor GH</span><br />
<span class="medgenPMjournal">Spec Top Endocrinol Metab</span>
1983;5:201-26.
<span class="bold">PMID: </span><a href="/pubmed/6422572" target="_blank">6422572</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcytic%20anemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (137)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/28528999">Clinical management of iron deficiency anemia in adults: Systemic review on advances in diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Franceschi L,
Iolascon A,
Taher A,
Cappellini MD</span><br />
<span class="medgenPMjournal">Eur J Intern Med</span>
2017 Jul;42:16-23.
Epub 2017 May 18
doi: 10.1016/j.ejim.2017.04.018.
<span class="bold">PMID: </span><a href="/pubmed/28528999" target="_blank">28528999</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25233067">Systematic review of potential health risks posed by pharmaceutical, occupational and consumer exposures to metallic and nanoscale aluminum, aluminum oxides, aluminum hydroxide and its soluble salts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Willhite CC,
Karyakina NA,
Yokel RA,
Yenugadhati N,
Wisniewski TM,
Arnold IM,
Momoli F,
Krewski D</span><br />
<span class="medgenPMjournal">Crit Rev Toxicol</span>
2014 Oct;44 Suppl 4(Suppl 4):1-80.
doi: 10.3109/10408444.2014.934439.
<span class="bold">PMID: </span><a href="/pubmed/25233067" target="_blank">25233067</a><a href="/pmc/articles/PMC4997813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcytic%20anemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5194182%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
<li><a href="/gtr/tests?term=C5194182%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
<li><a href="/gtr/tests?term=C5194182%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C5194182%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
<li><a href="/gtr/tests?term=C5194182%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5194182%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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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=(%22microcytic%20anemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Microcytic%20anemia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Microcytic+anemia/8872" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Microcytic%20anemia" target="_blank">MedlinePlus</a></li></ul></div>
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