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<meta name="keywords" content="C3539013, adar, adar aicardi-goutieres syndrome, ags6, aicardi-goutieres syndrome 6, aicardi-goutieres syndrome caused by mutation in adar, aicardi-goutieres syndrome type 6, disease or 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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<!--
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UID=761287
|
||
ConceptID=C3539013
|
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-->
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<!--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 6<span class="h1sub">(AGS6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761287</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3539013</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>AGS6</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ADAR - ID: 103 - NCBI Gene" href="/gene/103" class="medgenPMinfo">ADAR</a> (1q21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014007" target="_blank">MONDO:0014007</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615010" target="_blank">615010</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">
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||
<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>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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 />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 />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 />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 />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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6070"><div><strong>Leukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6070</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.">C0023520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6070">Feature record</a> | <a href="/medgen?term=%22Leukodystrophy%22%5BClinical%20Features%5D%20OR%206070%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56247"><div><strong>CSF pleocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56247</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.">C0151857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased white blood cell count in the cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56247">Feature record</a> | <a href="/medgen?term=%22CSF%20pleocytosis%22%5BClinical%20Features%5D%20OR%2056247%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107445"><div><strong>Loss of speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107445</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.">C0542223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107445">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20speech%22%5BClinical%20Features%5D%20OR%20107445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</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.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341667"><div><strong>Increased CSF interferon alpha</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341667</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.">C1856983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341667">Feature record</a> | <a href="/medgen?term=%22Increased%20CSF%20interferon%20alpha%22%5BClinical%20Features%5D%20OR%20341667%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</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.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</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.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124360"><div><strong>Cerebral calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124360</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.">C0270685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calcium deposition within the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124360">Feature record</a> | <a href="/medgen?term=%22Cerebral%20calcification%22%5BClinical%20Features%5D%20OR%20124360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_886"><div><strong>Chilblains</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>886</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.">C0008058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Chilblains%22%5BClinical%20Features%5D%20OR%20886%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1842154"><div><strong>Increased circulating Interferon-alpha concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842154</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.">C5826443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the concentration of interferon alpha measured in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1842154">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20Interferon-alpha%20concentration%22%5BClinical%20Features%5D%20OR%201842154%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilblains</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1842154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating Interferon-alpha concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral calcification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CSF pleocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased CSF interferon alpha</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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"><a href="/medgen/97953" ref="tree=GTR&ncbi_uid=97953&link_uid=97953" title="View MedGen record for 'Aicardi Goutieres syndrome'">Aicardi Goutieres syndrome</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=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="matched_ds"><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">Aicardi-Goutieres syndrome 6</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="TLline"><a href="/medgen/97953" ref="tree=MeSH" title="MedGen record for Aicardi Goutieres syndrome">Aicardi Goutieres syndrome</a></span><ul><li><span class="matched_ds">Aicardi-Goutieres syndrome 6</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35418997">Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li W,
|
||
Wang W,
|
||
Wang W,
|
||
Zhong L,
|
||
Gou L,
|
||
Wang C,
|
||
Ma J,
|
||
Quan M,
|
||
Jian S,
|
||
Tang X,
|
||
Zhang Y,
|
||
Wang L,
|
||
Ma M,
|
||
Song H</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:825367.
|
||
Epub 2022 Mar 28
|
||
doi: 10.3389/fimmu.2022.825367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35418997" target="_blank">35418997</a><a href="/pmc/articles/PMC8995420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003821">Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Clinard K,
|
||
Young SP,
|
||
Rehder CW,
|
||
Fan Z,
|
||
Calikoglu AS,
|
||
Bali DS,
|
||
Bailey DB Jr,
|
||
Gehtland LM,
|
||
Millington DS,
|
||
Patel HS,
|
||
Beckloff SE,
|
||
Zimmerman SJ,
|
||
Powell CM,
|
||
Taylor JL</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2020 Jan 3;3(1):e1920356.
|
||
doi: 10.1001/jamanetworkopen.2019.20356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003821" target="_blank">32003821</a><a href="/pmc/articles/PMC7042889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aicardi-goutieres%20syndrome%206)%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 (2)</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/39332260">Systemic complications of Aicardi Goutières syndrome using real-world data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peixoto de Barcelos I,
|
||
Jan AK,
|
||
Modesti N,
|
||
Woidill S,
|
||
Gavazzi F,
|
||
Isaacs D,
|
||
D'Aiello R,
|
||
Sevagamoorthy A,
|
||
Charlton L,
|
||
Pizzino A,
|
||
Schmidt J,
|
||
van Haren K,
|
||
Keller S,
|
||
Eichler F,
|
||
Emrick LT,
|
||
Fraser JL,
|
||
Shults J,
|
||
Vanderver A,
|
||
Adang LA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Sep-Oct;143(1-2):108578.
|
||
Epub 2024 Sep 15
|
||
doi: 10.1016/j.ymgme.2024.108578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39332260" target="_blank">39332260</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,
|
||
Lovšin E,
|
||
Samaille C,
|
||
Pescarmona R,
|
||
Mathieu AL,
|
||
Maggio MC,
|
||
Selmanović V,
|
||
Debeljak M,
|
||
Dachy A,
|
||
Novljan G,
|
||
Janin A,
|
||
Januel L,
|
||
Gibier JB,
|
||
Chopin E,
|
||
Rouvet I,
|
||
Goncalves D,
|
||
Fabien N,
|
||
Rice GI,
|
||
Lesca G,
|
||
Labalme A,
|
||
Romagnani P,
|
||
Walzer T,
|
||
Viel S,
|
||
Perret M,
|
||
Crow YJ,
|
||
Avčin T,
|
||
Cimaz R,
|
||
Belot A</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2022 Aug;42(6):1310-1320.
|
||
Epub 2022 Jun 7
|
||
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/24183309">Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rice GI,
|
||
Forte GM,
|
||
Szynkiewicz M,
|
||
Chase DS,
|
||
Aeby A,
|
||
Abdel-Hamid MS,
|
||
Ackroyd S,
|
||
Allcock R,
|
||
Bailey KM,
|
||
Balottin U,
|
||
Barnerias C,
|
||
Bernard G,
|
||
Bodemer C,
|
||
Botella MP,
|
||
Cereda C,
|
||
Chandler KE,
|
||
Dabydeen L,
|
||
Dale RC,
|
||
De Laet C,
|
||
De Goede CG,
|
||
Del Toro M,
|
||
Effat L,
|
||
Enamorado NN,
|
||
Fazzi E,
|
||
Gener B,
|
||
Haldre M,
|
||
Lin JP,
|
||
Livingston JH,
|
||
Lourenco CM,
|
||
Marques W Jr,
|
||
Oades P,
|
||
Peterson P,
|
||
Rasmussen M,
|
||
Roubertie A,
|
||
Schmidt JL,
|
||
Shalev SA,
|
||
Simon R,
|
||
Spiegel R,
|
||
Swoboda KJ,
|
||
Temtamy SA,
|
||
Vassallo G,
|
||
Vilain CN,
|
||
Vogt J,
|
||
Wermenbol V,
|
||
Whitehouse WP,
|
||
Soler D,
|
||
Olivieri I,
|
||
Orcesi S,
|
||
Aglan MS,
|
||
Zaki MS,
|
||
Abdel-Salam GM,
|
||
Vanderver A,
|
||
Kisand K,
|
||
Rozenberg F,
|
||
Lebon P,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2013 Dec;12(12):1159-69.
|
||
Epub 2013 Oct 30
|
||
doi: 10.1016/S1474-4422(13)70258-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24183309" target="_blank">24183309</a><a href="/pmc/articles/PMC4349523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12365363">Aicardi-Goutières syndrome--observations of the Glasgow school.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson JB</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6 Suppl A:A67-70; discussion A37-9, A55-8, A65-6.
|
||
doi: 10.1053/ejpn.2002.0578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12365363" target="_blank">12365363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12365361">Interferon and Aicardi-Goutières syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lebon P,
|
||
Meritet JF,
|
||
Krivine A,
|
||
Rozenberg F</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6 Suppl A:A47-53; discussion A55-8, A77-86.
|
||
doi: 10.1053/ejpn.2002.0574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12365361" target="_blank">12365361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%206%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 (29)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31874111">Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Jesus AA,
|
||
Hou Y,
|
||
Brooks S,
|
||
Malle L,
|
||
Biancotto A,
|
||
Huang Y,
|
||
Calvo KR,
|
||
Marrero B,
|
||
Moir S,
|
||
Oler AJ,
|
||
Deng Z,
|
||
Montealegre Sanchez GA,
|
||
Ahmed A,
|
||
Allenspach E,
|
||
Arabshahi B,
|
||
Behrens E,
|
||
Benseler S,
|
||
Bezrodnik L,
|
||
Bout-Tabaku S,
|
||
Brescia AC,
|
||
Brown D,
|
||
Burnham JM,
|
||
Caldirola MS,
|
||
Carrasco R,
|
||
Chan AY,
|
||
Cimaz R,
|
||
Dancey P,
|
||
Dare J,
|
||
DeGuzman M,
|
||
Dimitriades V,
|
||
Ferguson I,
|
||
Ferguson P,
|
||
Finn L,
|
||
Gattorno M,
|
||
Grom AA,
|
||
Hanson EP,
|
||
Hashkes PJ,
|
||
Hedrich CM,
|
||
Herzog R,
|
||
Horneff G,
|
||
Jerath R,
|
||
Kessler E,
|
||
Kim H,
|
||
Kingsbury DJ,
|
||
Laxer RM,
|
||
Lee PY,
|
||
Lee-Kirsch MA,
|
||
Lewandowski L,
|
||
Li S,
|
||
Lilleby V,
|
||
Mammadova V,
|
||
Moorthy LN,
|
||
Nasrullayeva G,
|
||
O'Neil KM,
|
||
Onel K,
|
||
Ozen S,
|
||
Pan N,
|
||
Pillet P,
|
||
Piotto DG,
|
||
Punaro MG,
|
||
Reiff A,
|
||
Reinhardt A,
|
||
Rider LG,
|
||
Rivas-Chacon R,
|
||
Ronis T,
|
||
Rösen-Wolff A,
|
||
Roth J,
|
||
Ruth NM,
|
||
Rygg M,
|
||
Schmeling H,
|
||
Schulert G,
|
||
Scott C,
|
||
Seminario G,
|
||
Shulman A,
|
||
Sivaraman V,
|
||
Son MB,
|
||
Stepanovskiy Y,
|
||
Stringer E,
|
||
Taber S,
|
||
Terreri MT,
|
||
Tifft C,
|
||
Torgerson T,
|
||
Tosi L,
|
||
Van Royen-Kerkhof A,
|
||
Wampler Muskardin T,
|
||
Canna SW,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2020 Apr 1;130(4):1669-1682.
|
||
doi: 10.1172/JCI129301.
|
||
<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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24183309">Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rice GI,
|
||
Forte GM,
|
||
Szynkiewicz M,
|
||
Chase DS,
|
||
Aeby A,
|
||
Abdel-Hamid MS,
|
||
Ackroyd S,
|
||
Allcock R,
|
||
Bailey KM,
|
||
Balottin U,
|
||
Barnerias C,
|
||
Bernard G,
|
||
Bodemer C,
|
||
Botella MP,
|
||
Cereda C,
|
||
Chandler KE,
|
||
Dabydeen L,
|
||
Dale RC,
|
||
De Laet C,
|
||
De Goede CG,
|
||
Del Toro M,
|
||
Effat L,
|
||
Enamorado NN,
|
||
Fazzi E,
|
||
Gener B,
|
||
Haldre M,
|
||
Lin JP,
|
||
Livingston JH,
|
||
Lourenco CM,
|
||
Marques W Jr,
|
||
Oades P,
|
||
Peterson P,
|
||
Rasmussen M,
|
||
Roubertie A,
|
||
Schmidt JL,
|
||
Shalev SA,
|
||
Simon R,
|
||
Spiegel R,
|
||
Swoboda KJ,
|
||
Temtamy SA,
|
||
Vassallo G,
|
||
Vilain CN,
|
||
Vogt J,
|
||
Wermenbol V,
|
||
Whitehouse WP,
|
||
Soler D,
|
||
Olivieri I,
|
||
Orcesi S,
|
||
Aglan MS,
|
||
Zaki MS,
|
||
Abdel-Salam GM,
|
||
Vanderver A,
|
||
Kisand K,
|
||
Rozenberg F,
|
||
Lebon P,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2013 Dec;12(12):1159-69.
|
||
Epub 2013 Oct 30
|
||
doi: 10.1016/S1474-4422(13)70258-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24183309" target="_blank">24183309</a><a href="/pmc/articles/PMC4349523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12365363">Aicardi-Goutières syndrome--observations of the Glasgow school.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson JB</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6 Suppl A:A67-70; discussion A37-9, A55-8, A65-6.
|
||
doi: 10.1053/ejpn.2002.0578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12365363" target="_blank">12365363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12365361">Interferon and Aicardi-Goutières syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lebon P,
|
||
Meritet JF,
|
||
Krivine A,
|
||
Rozenberg F</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6 Suppl A:A47-53; discussion A55-8, A77-86.
|
||
doi: 10.1053/ejpn.2002.0574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12365361" target="_blank">12365361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12365359">The genetics of Aicardi-Goutières syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crow Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6 Suppl A:A33-5; discussion A37-9, A77-86.
|
||
doi: 10.1053/ejpn.2002.0571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12365359" target="_blank">12365359</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%206%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39332260">Systemic complications of Aicardi Goutières syndrome using real-world data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peixoto de Barcelos I,
|
||
Jan AK,
|
||
Modesti N,
|
||
Woidill S,
|
||
Gavazzi F,
|
||
Isaacs D,
|
||
D'Aiello R,
|
||
Sevagamoorthy A,
|
||
Charlton L,
|
||
Pizzino A,
|
||
Schmidt J,
|
||
van Haren K,
|
||
Keller S,
|
||
Eichler F,
|
||
Emrick LT,
|
||
Fraser JL,
|
||
Shults J,
|
||
Vanderver A,
|
||
Adang LA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Sep-Oct;143(1-2):108578.
|
||
Epub 2024 Sep 15
|
||
doi: 10.1016/j.ymgme.2024.108578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39332260" target="_blank">39332260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39089832">Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haslak F,
|
||
Kilic H,
|
||
Sahin S,
|
||
Hotaman B,
|
||
Cebi NM,
|
||
Yildiz M,
|
||
Adrovic A,
|
||
Gunalp A,
|
||
Konte EK,
|
||
Aslan E,
|
||
Gul U,
|
||
Akay N,
|
||
Zindar Y,
|
||
Ulug F,
|
||
Guler S,
|
||
Kiykim A,
|
||
Aydemir S,
|
||
Barut K,
|
||
Saltik S,
|
||
Cokugras HC,
|
||
Kasapcopur O</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2024 Dec 1;51(12):1208-1217.
|
||
doi: 10.3899/jrheum.2024-0294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39089832" target="_blank">39089832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38885315">IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang LA,
|
||
D'Aiello R,
|
||
Takanohashi A,
|
||
Woidill S,
|
||
Gavazzi F,
|
||
Behrens EM,
|
||
Sullivan KE,
|
||
Goldbach-Mansky R,
|
||
de Jesus AA;
|
||
AGS Clinical Trial Readiness Workgroup,
|
||
Vanderver A,
|
||
Shults J</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2024 Jun 17;9(14)
|
||
doi: 10.1172/jci.insight.178456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38885315" target="_blank">38885315</a><a href="/pmc/articles/PMC11383167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35339535">Type I interferon-related kidney disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lodi L,
|
||
Mastrolia MV,
|
||
Bello F,
|
||
Rossi GM,
|
||
Angelotti ML,
|
||
Crow YJ,
|
||
Romagnani P,
|
||
Vaglio A</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2022 Jun;101(6):1142-1159.
|
||
Epub 2022 Mar 24
|
||
doi: 10.1016/j.kint.2022.02.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35339535" target="_blank">35339535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31874111">Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Jesus AA,
|
||
Hou Y,
|
||
Brooks S,
|
||
Malle L,
|
||
Biancotto A,
|
||
Huang Y,
|
||
Calvo KR,
|
||
Marrero B,
|
||
Moir S,
|
||
Oler AJ,
|
||
Deng Z,
|
||
Montealegre Sanchez GA,
|
||
Ahmed A,
|
||
Allenspach E,
|
||
Arabshahi B,
|
||
Behrens E,
|
||
Benseler S,
|
||
Bezrodnik L,
|
||
Bout-Tabaku S,
|
||
Brescia AC,
|
||
Brown D,
|
||
Burnham JM,
|
||
Caldirola MS,
|
||
Carrasco R,
|
||
Chan AY,
|
||
Cimaz R,
|
||
Dancey P,
|
||
Dare J,
|
||
DeGuzman M,
|
||
Dimitriades V,
|
||
Ferguson I,
|
||
Ferguson P,
|
||
Finn L,
|
||
Gattorno M,
|
||
Grom AA,
|
||
Hanson EP,
|
||
Hashkes PJ,
|
||
Hedrich CM,
|
||
Herzog R,
|
||
Horneff G,
|
||
Jerath R,
|
||
Kessler E,
|
||
Kim H,
|
||
Kingsbury DJ,
|
||
Laxer RM,
|
||
Lee PY,
|
||
Lee-Kirsch MA,
|
||
Lewandowski L,
|
||
Li S,
|
||
Lilleby V,
|
||
Mammadova V,
|
||
Moorthy LN,
|
||
Nasrullayeva G,
|
||
O'Neil KM,
|
||
Onel K,
|
||
Ozen S,
|
||
Pan N,
|
||
Pillet P,
|
||
Piotto DG,
|
||
Punaro MG,
|
||
Reiff A,
|
||
Reinhardt A,
|
||
Rider LG,
|
||
Rivas-Chacon R,
|
||
Ronis T,
|
||
Rösen-Wolff A,
|
||
Roth J,
|
||
Ruth NM,
|
||
Rygg M,
|
||
Schmeling H,
|
||
Schulert G,
|
||
Scott C,
|
||
Seminario G,
|
||
Shulman A,
|
||
Sivaraman V,
|
||
Son MB,
|
||
Stepanovskiy Y,
|
||
Stringer E,
|
||
Taber S,
|
||
Terreri MT,
|
||
Tifft C,
|
||
Torgerson T,
|
||
Tosi L,
|
||
Van Royen-Kerkhof A,
|
||
Wampler Muskardin T,
|
||
Canna SW,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2020 Apr 1;130(4):1669-1682.
|
||
doi: 10.1172/JCI129301.
|
||
<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>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%206%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39332260">Systemic complications of Aicardi Goutières syndrome using real-world data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peixoto de Barcelos I,
|
||
Jan AK,
|
||
Modesti N,
|
||
Woidill S,
|
||
Gavazzi F,
|
||
Isaacs D,
|
||
D'Aiello R,
|
||
Sevagamoorthy A,
|
||
Charlton L,
|
||
Pizzino A,
|
||
Schmidt J,
|
||
van Haren K,
|
||
Keller S,
|
||
Eichler F,
|
||
Emrick LT,
|
||
Fraser JL,
|
||
Shults J,
|
||
Vanderver A,
|
||
Adang LA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 Sep-Oct;143(1-2):108578.
|
||
Epub 2024 Sep 15
|
||
doi: 10.1016/j.ymgme.2024.108578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39332260" target="_blank">39332260</a></div>
|
||
|
||
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<div class="nl"><a target="_blank" href="/pubmed/12365363">Aicardi-Goutières syndrome--observations of the Glasgow school.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson JB</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2002;6 Suppl A:A67-70; discussion A37-9, A55-8, A65-6.
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doi: 10.1053/ejpn.2002.0578.
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<span class="bold">PMID: </span><a href="/pubmed/12365363" target="_blank">12365363</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%206%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 (36)</a></div></div>
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</div>
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|
||
<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/35670985">DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.</a></div>
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<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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Epub 2022 Jun 7
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||
<span class="bold">PMID: </span><a href="/pubmed/35670985" target="_blank">35670985</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%206%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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 mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3539013%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C3539013%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C3539013%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3539013%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
|
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</ul></div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615010" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aicardi-Goutieres%20syndrome%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</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=(aicardi-goutieres%20syndrome%206)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=146920" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=103[geneid]" target="_blank">View ADAR variations in ClinVar</a></li><li><a href="/nuccore/226530635" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=615010" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/aicardi_goutieres_syndrome_6" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Aicardi-Goutieres%20syndrome%206" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15894/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<li>
|
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<a href="/pubmed/20301648" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
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<a href="/pubmed/clinical?term=Aicardi-Goutieres%20syndrome%206" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Aicardi-Goutieres%20syndrome%206%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=761287" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=761287" ref="log$=recordlinks">Gene</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3539013[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3539013[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=761287" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=761287" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=761287" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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