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<meta name="keywords" content="C0393591, ags, aicardi goutieres syndrome, aicardi-goutieres syndrome, aicardi-goutières syndrome, cree encephalitis, disease or syndrome, encephalopathy with basal ganglia calcification, encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid, encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis, encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, pseudotoxoplasmosis syndrome, 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="Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=97953
|
||
ConceptID=C0393591
|
||
-->
|
||
<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1475/bin/ags-Image001.gif" src-large="/books/NBK1475/bin/ags-Image001.jpg" /></a><br /><a href="/books/NBK1475/figure/ags.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1475/bin/ags-Image002.gif" src-large="/books/NBK1475/bin/ags-Image002.jpg" /></a><br /><a href="/books/NBK1475/figure/ags.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1475/bin/ags-Image003.gif" src-large="/books/NBK1475/bin/ags-Image003.jpg" /></a><br /><a href="/books/NBK1475/figure/ags.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Aicardi Goutieres syndrome<span class="h1sub">(AGS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97953</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.">C0393591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AGS; Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Aicardi Goutieres syndrome (230312006)</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="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" 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/84153">RNASEH2C</a>, <a target="_blank" href="/gene/79621">RNASEH2B</a>, <a target="_blank" href="/gene/25939">SAMHD1</a>, <a target="_blank" href="/gene/11277">TREX1</a>, <a target="_blank" href="/gene/10535">RNASEH2A</a>, <a target="_blank" href="/gene/103">ADAR</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018866" target="_blank">MONDO:0018866</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/225750" target="_blank">225750</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS225750" target="_blank">PS225750</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=51">ORPHA51</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1475" target="_blank">Aicardi-Goutières Syndrome</a></div><div>Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1475#ags.Summary" target="NBK1475">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Diagnosis" target="NBK1475">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Clinical_Characteristics" target="NBK1475">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Genetically_Related_Allelic_Disorder" target="NBK1475">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Differential_Diagnosis" target="NBK1475">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Management" target="NBK1475">Management</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Genetic_Counseling" target="NBK1475">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Resources" target="NBK1475">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Molecular_Genetics" target="NBK1475">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.Chapter_Notes" target="NBK1475">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1475#ags.References" target="NBK1475">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Yanick J Crow <a href="/books/NBK1475" target="NBK1475" title="NCBI Bookshelf: Aicardi-Goutières Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Affected babies are usually extremely irritable and do not feed well. They also have muscle stiffness (spasticity), involuntary tensing of various muscles (dystonia), and weak muscle tone (hypotonia). They can have vision problems including vision loss and increased pressure in the eye (glaucoma).<br /><br />Individuals with the early-onset form of Aicardi-Goutières syndrome can experience severe brain dysfunction (encephalopathy) within the first months of life. This encephalopathic phase of the disorder can last for weeks or months. Affected infants stop developing new skills and begin losing skills they had already acquired (developmental regression). Infants with this form can have seizures. Medical imaging reveals loss of white matter in the brain (leukodystrophy). White matter consists of nerve cells covered by myelin, which is a substance that protects nerves and allows them to rapidly transmit nerve impulses. Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). Affected individuals may have abnormal deposits of calcium (calcification) in the brain. As a result of this neurological damage, most people with Aicardi-Goutières syndrome have profound intellectual disabilities.<br /><br />Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin.<br /><br />Aicardi-Goutières syndrome is often divided into two types, which are distinguished by the severity of features and the age at which they begin: the early-onset form (sometimes called the classic form) and the later-onset form. <br /><br />Some newborns have a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, and a shortage of blood cells called platelets that are needed for normal blood clotting (thrombocytopenia). They may develop intermittent fevers in the absence of infection (sterile pyrexias). While this combination of signs and symptoms is typically associated with the immune system's response to a viral infection that is present at birth (congenital), no actual infection is found in these infants. For this reason, Aicardi-Goutières syndrome is sometimes referred to as a "mimic of congenital infection."<br /><br />In some affected newborns, white blood cells, interferon proteins, and other immune system molecules can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These findings are consistent with inflammation and tissue damage in the central nervous system.<br /><br />About 40 percent of people with the early-onset form of Aicardi-Goutières syndrome develop a skin problem called chilblains. Chilblains are painful, itchy skin lesions that are puffy and red, and they usually appear on the fingers, toes, nose, and ears. They are caused by inflammation of small blood vessels and may be brought on or made worse by exposure to cold temperatures. <br /><br />In about 20 percent of cases, the early-onset form of Aicardi-Goutières syndrome begins prenatally. Slow growth (intrauterine growth retardation) and brain abnormalities, especially brain calcification, may be seen on ultrasound imaging. These individuals have the most severe neurological problems and the highest risk for early death.<br /><br />People with the later-onset form of Aicardi-Goutières syndrome typically have normal development in infancy. In these individuals, encephalopathy typically occurs after 1 year of age. Similar to those with the early-onset form, babies with the later-onset form experience irritability, poor feeding, and sterile pyrexias. Over time, affected individuals show developmental delays and regression. They may also have spasticity and hypotonia, and the growth of the brain and head may slow leading to microcephaly. The health and developmental problems in people with the later-onset form are typically not as severe as those in individuals with the early-onset form, though the severity can vary among affected individuals.<br /><br />As a result of the severe neurological problems that are usually associated with Aicardi-Goutières syndrome, most people with this disorder do not survive past childhood. However, some affected individuals with the later-onset form of the condition and milder neurological problems can live into adolescence or adulthood. <a target="_blank" href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome">https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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><li><a href="#tabORDO">Orphanet</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=C0393591[DISCUI]&test_type=Clinical" ref="ncbi_uid=97953">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=97953" target="_blank" href="/omim/225750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=97953">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=97953" ref="ncbi_uid=97953">V</a></span></span><span class="TLline">Aicardi Goutieres syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796126[DISCUI]&test_type=Clinical" ref="ncbi_uid=162912">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162912" target="_blank" href="/omim/225750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=162912">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162912" ref="ncbi_uid=162912">V</a></span></span><span class="TLline"><a href="/medgen/162912" ref="tree=GTR&ncbi_uid=162912&link_uid=162912" title="View MedGen record for 'Aicardi-Goutieres syndrome 1'">Aicardi-Goutieres syndrome 1</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=C3150315[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=461665">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=461665" target="_blank" href="/omim/225750">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=461665" ref="ncbi_uid=461665">V</a></span></span><span class="TLline"><a href="/medgen/461665" ref="tree=GTR&ncbi_uid=461665&link_uid=461665" title="View MedGen record for 'Aicardi-Goutieres syndrome 1, autosomal dominant'">Aicardi-Goutieres syndrome 1, autosomal dominant</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=C3489724[DISCUI]&test_type=Clinical" ref="ncbi_uid=483677">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483677" target="_blank" href="/omim/610181">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=483677">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483677" ref="ncbi_uid=483677">V</a></span></span><span class="TLline"><a href="/medgen/483677" ref="tree=GTR&ncbi_uid=483677&link_uid=483677" title="View MedGen record for 'Aicardi-Goutieres syndrome 2'">Aicardi-Goutieres syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835916[DISCUI]&test_type=Clinical" ref="ncbi_uid=324389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324389" target="_blank" href="/omim/610329">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=324389">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324389" ref="ncbi_uid=324389">V</a></span></span><span class="TLline"><a href="/medgen/324389" ref="tree=GTR&ncbi_uid=324389&link_uid=324389" title="View MedGen record for 'Aicardi-Goutieres syndrome 3'">Aicardi-Goutieres syndrome 3</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=C1835912[DISCUI]&test_type=Clinical" ref="ncbi_uid=332084">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332084" target="_blank" href="/omim/606034">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=332084">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332084" ref="ncbi_uid=332084">V</a></span></span><span class="TLline"><a href="/medgen/332084" ref="tree=GTR&ncbi_uid=332084&link_uid=332084" title="View MedGen record for 'Aicardi-Goutieres syndrome 4'">Aicardi-Goutieres syndrome 4</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=C2749659[DISCUI]&test_type=Clinical" ref="ncbi_uid=413116">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413116" target="_blank" href="/omim/606754">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=413116">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413116" ref="ncbi_uid=413116">V</a></span></span><span class="TLline"><a href="/medgen/413116" ref="tree=GTR&ncbi_uid=413116&link_uid=413116" title="View MedGen record for 'Aicardi-Goutieres syndrome 5'">Aicardi-Goutieres syndrome 5</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=C3539013[DISCUI]&test_type=Clinical" ref="ncbi_uid=761287">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761287" target="_blank" href="/omim/146920">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1475/" ref="ncbi_uid=761287">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761287" ref="ncbi_uid=761287">V</a></span></span><span class="TLline"><a href="/medgen/761287" ref="tree=GTR&ncbi_uid=761287&link_uid=761287" title="View MedGen record for 'Aicardi-Goutieres syndrome 6'">Aicardi-Goutieres syndrome 6</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/1826081" ref="tree=MeSH" title="MedGen record for Immune dysregulation disease with immunodeficiency">Immune dysregulation disease with immunodeficiency</a></span><ul><li><span class="matched_ds">Aicardi Goutieres syndrome</span><ul><li><span class="TLline"><a href="/medgen/162912" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1">Aicardi-Goutieres syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/461665" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 1, autosomal dominant">Aicardi-Goutieres syndrome 1, autosomal dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/483677" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 2">Aicardi-Goutieres syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/324389" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 3">Aicardi-Goutieres syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/332084" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 4">Aicardi-Goutieres syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/413116" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 5">Aicardi-Goutieres syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/761287" ref="tree=MeSH" title="MedGen record for Aicardi-Goutieres syndrome 6">Aicardi-Goutieres syndrome 6</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1309&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Aicardi Goutieres syndrome</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38381212">Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jafarpour S,
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Suddock J,
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Hawes D,
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Santoro JD</span><br />
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<span class="medgenPMjournal">J Clin Immunol</span>
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2024 Feb 21;44(3):68.
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doi: 10.1007/s10875-024-01672-2.
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<span class="bold">PMID: </span><a href="/pubmed/38381212" target="_blank">38381212</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36650407">Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dell'Isola GB,
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Dini G,
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Culpepper KL,
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Portwood KE,
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Ferrara P,
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Di Cara G,
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Verrotti A,
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Lodolo M</span><br />
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<span class="medgenPMjournal">World J Pediatr</span>
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2023 Jul;19(7):635-643.
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Epub 2023 Jan 17
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doi: 10.1007/s12519-022-00679-2.
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<span class="bold">PMID: </span><a href="/pubmed/36650407" target="_blank">36650407</a><a href="/pmc/articles/PMC10258176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35086813">The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cetin Gedik K,
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Lamot L,
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Romano M,
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Demirkaya E,
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Piskin D,
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Torreggiani S,
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Adang LA,
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Armangue T,
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Barchus K,
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Cordova DR,
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Crow YJ,
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Dale RC,
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Durrant KL,
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Eleftheriou D,
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Fazzi EM,
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Gattorno M,
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Gavazzi F,
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Hanson EP,
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Lee-Kirsch MA,
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Montealegre Sanchez GA,
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Neven B,
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Orcesi S,
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Ozen S,
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Poli MC,
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Schumacher E,
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Tonduti D,
|
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Uss K,
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Aletaha D,
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Feldman BM,
|
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Vanderver A,
|
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Brogan PA,
|
||
Goldbach-Mansky R</span><br />
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<span class="medgenPMjournal">Ann Rheum Dis</span>
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2022 May;81(5):601-613.
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Epub 2022 Jan 27
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doi: 10.1136/annrheumdis-2021-221814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086813" target="_blank">35086813</a><a href="/pmc/articles/PMC9036471" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aicardi%20goutieres%20syndrome%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 (13)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/X-ALD-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023</a></h3>
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||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/X-ALD-Algorithm.pdf" target="_blank">ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023</a></h3>
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||
</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>
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<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39122631">Interferonopathies: From concept to clinical practice.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mendonça LO,
|
||
Frémond ML</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/39122631" target="_blank">39122631</a></div>
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Patel D,
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Foster DT,
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<span class="bold">PMID: </span><a href="/pubmed/38390857" target="_blank">38390857</a><a href="/pmc/articles/PMC10885080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi%20Goutieres%20syndrome%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 (41)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33230297">cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33230297" target="_blank">33230297</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31898846">Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rice GI,
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Epub 2020 Jan 14
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<span class="bold">PMID: </span><a href="/pubmed/31898846" target="_blank">31898846</a><a href="/pmc/articles/PMC7457149" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31874111">Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">de Jesus AA,
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doi: 10.1172/JCI129301.
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<span class="bold">PMID: </span><a href="/pubmed/31874111" target="_blank">31874111</a><a href="/pmc/articles/PMC7108905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27260006">Type I interferonopathies in pediatric rheumatology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Volpi S,
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Picco P,
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Caorsi R,
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Candotti F,
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Gattorno M</span><br />
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<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
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2016 Jun 4;14(1):35.
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<span class="bold">PMID: </span><a href="/pubmed/27260006" target="_blank">27260006</a><a href="/pmc/articles/PMC4893274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi%20Goutieres%20syndrome%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 (118)</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/37819120">Synthetic lethal mutants in Escherichia coli define pathways necessary for survival with RNase H deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Das S,
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Forrest J,
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Kuzminov A</span><br />
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<span class="medgenPMjournal">J Bacteriol</span>
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2023 Oct 26;205(10):e0028023.
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Epub 2023 Oct 11
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doi: 10.1128/jb.00280-23.
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||
<span class="bold">PMID: </span><a href="/pubmed/37819120" target="_blank">37819120</a><a href="/pmc/articles/PMC10601623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670985">DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tusseau M,
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Lovšin E,
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Samaille C,
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Pescarmona R,
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Mathieu AL,
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Maggio MC,
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Selmanović V,
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Debeljak M,
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Dachy A,
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Novljan G,
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Janin A,
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Januel L,
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Gibier JB,
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Chopin E,
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Rouvet I,
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Goncalves D,
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Fabien N,
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Rice GI,
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Lesca G,
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Labalme A,
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Romagnani P,
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Walzer T,
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Viel S,
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Perret M,
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Crow YJ,
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Avčin T,
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Cimaz R,
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Belot A</span><br />
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<span class="medgenPMjournal">J Clin Immunol</span>
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2022 Aug;42(6):1310-1320.
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Epub 2022 Jun 7
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doi: 10.1007/s10875-022-01287-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670985" target="_blank">35670985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35315249">The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetin Gedik K,
|
||
Lamot L,
|
||
Romano M,
|
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Demirkaya E,
|
||
Piskin D,
|
||
Torreggiani S,
|
||
Adang LA,
|
||
Armangue T,
|
||
Barchus K,
|
||
Cordova DR,
|
||
Crow YJ,
|
||
Dale RC,
|
||
Durrant KL,
|
||
Eleftheriou D,
|
||
Fazzi EM,
|
||
Gattorno M,
|
||
Gavazzi F,
|
||
Hanson EP,
|
||
Lee-Kirsch MA,
|
||
Montealegre Sanchez GA,
|
||
Neven B,
|
||
Orcesi S,
|
||
Ozen S,
|
||
Poli MC,
|
||
Schumacher E,
|
||
Tonduti D,
|
||
Uss K,
|
||
Aletaha D,
|
||
Feldman BM,
|
||
Vanderver A,
|
||
Brogan PA,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">Arthritis Rheumatol</span>
|
||
2022 May;74(5):735-751.
|
||
Epub 2022 Mar 21
|
||
doi: 10.1002/art.42087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35315249" target="_blank">35315249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35086813">The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cetin Gedik K,
|
||
Lamot L,
|
||
Romano M,
|
||
Demirkaya E,
|
||
Piskin D,
|
||
Torreggiani S,
|
||
Adang LA,
|
||
Armangue T,
|
||
Barchus K,
|
||
Cordova DR,
|
||
Crow YJ,
|
||
Dale RC,
|
||
Durrant KL,
|
||
Eleftheriou D,
|
||
Fazzi EM,
|
||
Gattorno M,
|
||
Gavazzi F,
|
||
Hanson EP,
|
||
Lee-Kirsch MA,
|
||
Montealegre Sanchez GA,
|
||
Neven B,
|
||
Orcesi S,
|
||
Ozen S,
|
||
Poli MC,
|
||
Schumacher E,
|
||
Tonduti D,
|
||
Uss K,
|
||
Aletaha D,
|
||
Feldman BM,
|
||
Vanderver A,
|
||
Brogan PA,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2022 May;81(5):601-613.
|
||
Epub 2022 Jan 27
|
||
doi: 10.1136/annrheumdis-2021-221814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086813" target="_blank">35086813</a><a href="/pmc/articles/PMC9036471" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi%20Goutieres%20syndrome%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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||
|
||
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||
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||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0393591%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393591%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393591%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393591%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393591%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393591%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0393591%5bDISCUI%5d" target="_blank">See all (31)</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/phenotypicSeries/PS225750" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=51" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aicardi%20Goutieres%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aicardi%20goutieres%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/X-ALD-ACT-Sheet.pdf">ACMG ACT, 2023</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/X-ALD-Algorithm.pdf">ACMG Algorithm, 2023</a><div>ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023</div></li></ul></div>
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