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<meta name="keywords" content="C1835912, ags4, aicardi-goutieres syndrome 4, aicardi-goutieres syndrome caused by mutation in rnaseh2a, aicardi-goutieres syndrome type 4, disease or syndrome, rnaseh2a, rnaseh2a aicardi-goutieres syndrome, rnaseh2a-related aicardi-goutieres 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=332084
|
||
ConceptID=C1835912
|
||
-->
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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 4<span class="h1sub">(AGS4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332084</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:">C1835912</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>Aicardi-Goutieres Syndrome 4</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="RNASEH2A - ID: 10535 - NCBI Gene" href="/gene/10535" class="medgenPMinfo">RNASEH2A</a> (19p13.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012472" target="_blank">MONDO:0012472</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610333" target="_blank">610333</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>
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<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 />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 />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>
|
||
</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_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%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_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%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_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140894"><div><strong>CSF lymphocytic pleiocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140894</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.">C0427877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased lymphocyte count in the cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22CSF%20lymphocytic%20pleiocytosis%22%5BClinical%20Features%5D%20OR%20140894%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%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_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18281"><div><strong>Pancytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</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.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18281">Feature record</a> | <a href="/medgen?term=%22Pancytopenia%22%5BClinical%20Features%5D%20OR%2018281%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_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_340542"><div><strong>Progressive microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340542</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.">C1850456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340542">Feature record</a> | <a href="/medgen?term=%22Progressive%20microcephaly%22%5BClinical%20Features%5D%20OR%20340542%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%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_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66809"><div><strong>Convex nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66809</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.">C0240538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66809">Feature record</a> | <a href="/medgen?term=%22Convex%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%2066809%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_18281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia</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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Convex nasal ridge</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li></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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><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_340542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive microcephaly</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_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CSF lymphocytic pleiocytosis</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_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</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_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</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="matched_ds"><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">Aicardi-Goutieres syndrome 4</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="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 4</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/38381212">Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jafarpour S,
|
||
Suddock J,
|
||
Hawes D,
|
||
Santoro JD</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2024 Feb 21;44(3):68.
|
||
doi: 10.1007/s10875-024-01672-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38381212" target="_blank">38381212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38368708">Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Barcelos IP,
|
||
Woidill S,
|
||
Gavazzi F,
|
||
Modesti NB,
|
||
Sevagamoorthy A,
|
||
Vanderver A,
|
||
Adang L</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 May;142(1):108346.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1016/j.ymgme.2024.108346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38368708" target="_blank">38368708</a><a href="/pmc/articles/PMC11431181" target="_blank" class="PubMedFree">Free PMC Article</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=(aicardi-goutieres%20syndrome%204)%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 (7)</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/36334423">SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takanohashi A,
|
||
Alameh MG,
|
||
Woidill S,
|
||
Hacker J,
|
||
Davis B,
|
||
Helman G,
|
||
Gavazzi F,
|
||
Adang L,
|
||
D'Aiello R,
|
||
Winters P,
|
||
Cordova D,
|
||
Khandaker T,
|
||
Ni H,
|
||
Tam Y,
|
||
Lin P,
|
||
Weissman D,
|
||
Shults J,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Dec;137(4):320-327.
|
||
Epub 2022 Oct 10
|
||
doi: 10.1016/j.ymgme.2022.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36334423" target="_blank">36334423</a><a href="/pmc/articles/PMC9550281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29277929">Recurrent chilblains in a child with neurological impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohandas P,
|
||
Bowker R,
|
||
Ravenscroft J,
|
||
Bleiker T</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2018 Jun;43(4):500-502.
|
||
Epub 2017 Dec 26
|
||
doi: 10.1111/ced.13330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29277929" target="_blank">29277929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29773266">Genetic interferonopathies: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eleftheriou D,
|
||
Brogan PA</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2017 Aug;31(4):441-459.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1016/j.berh.2017.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29773266" target="_blank">29773266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24011626">Epilepsy in Aicardi-Goutières syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramantani G,
|
||
Maillard LG,
|
||
Bast T,
|
||
Husain RA,
|
||
Niggemann P,
|
||
Kohlhase J,
|
||
Hertzberg C,
|
||
Ungerath K,
|
||
Innes MA,
|
||
Walkenhorst H,
|
||
Bevot A,
|
||
von Stülpnagel C,
|
||
Thomas K,
|
||
Niemann F,
|
||
Ergun MA,
|
||
Tacke U,
|
||
Häusler M,
|
||
Ikonomidou C,
|
||
Korinthenberg R,
|
||
Lee-Kirsch MA</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2014 Jan;18(1):30-7.
|
||
Epub 2013 Sep 5
|
||
doi: 10.1016/j.ejpn.2013.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24011626" target="_blank">24011626</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%204%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31898846">Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rice GI,
|
||
Park S,
|
||
Gavazzi F,
|
||
Adang LA,
|
||
Ayuk LA,
|
||
Van Eyck L,
|
||
Seabra L,
|
||
Barrea C,
|
||
Battini R,
|
||
Belot A,
|
||
Berg S,
|
||
Billette de Villemeur T,
|
||
Bley AE,
|
||
Blumkin L,
|
||
Boespflug-Tanguy O,
|
||
Briggs TA,
|
||
Brimble E,
|
||
Dale RC,
|
||
Darin N,
|
||
Debray FG,
|
||
De Giorgis V,
|
||
Denecke J,
|
||
Doummar D,
|
||
Drake Af Hagelsrum G,
|
||
Eleftheriou D,
|
||
Estienne M,
|
||
Fazzi E,
|
||
Feillet F,
|
||
Galli J,
|
||
Hartog N,
|
||
Harvengt J,
|
||
Heron B,
|
||
Heron D,
|
||
Kelly DA,
|
||
Lev D,
|
||
Levrat V,
|
||
Livingston JH,
|
||
Marti I,
|
||
Mignot C,
|
||
Mochel F,
|
||
Nougues MC,
|
||
Oppermann I,
|
||
Pérez-Dueñas B,
|
||
Popp B,
|
||
Rodero MP,
|
||
Rodriguez D,
|
||
Saletti V,
|
||
Sharpe C,
|
||
Tonduti D,
|
||
Vadlamani G,
|
||
Van Haren K,
|
||
Tomas Vila M,
|
||
Vogt J,
|
||
Wassmer E,
|
||
Wiedemann A,
|
||
Wilson CJ,
|
||
Zerem A,
|
||
Zweier C,
|
||
Zuberi SM,
|
||
Orcesi S,
|
||
Vanderver AL,
|
||
Hur S,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Apr;41(4):837-849.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1002/humu.23975.
|
||
<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>
|
||
|
||
<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/29395326">Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmad S,
|
||
Mu X,
|
||
Yang F,
|
||
Greenwald E,
|
||
Park JW,
|
||
Jacob E,
|
||
Zhang CZ,
|
||
Hur S</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2018 Feb 8;172(4):797-810.e13.
|
||
Epub 2018 Jan 25
|
||
doi: 10.1016/j.cell.2017.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29395326" target="_blank">29395326</a><a href="/pmc/articles/PMC5807104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29773266">Genetic interferonopathies: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eleftheriou D,
|
||
Brogan PA</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2017 Aug;31(4):441-459.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1016/j.berh.2017.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29773266" target="_blank">29773266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17846997">Clinical and molecular phenotype of Aicardi-Goutieres syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rice G,
|
||
Patrick T,
|
||
Parmar R,
|
||
Taylor CF,
|
||
Aeby A,
|
||
Aicardi J,
|
||
Artuch R,
|
||
Montalto SA,
|
||
Bacino CA,
|
||
Barroso B,
|
||
Baxter P,
|
||
Benko WS,
|
||
Bergmann C,
|
||
Bertini E,
|
||
Biancheri R,
|
||
Blair EM,
|
||
Blau N,
|
||
Bonthron DT,
|
||
Briggs T,
|
||
Brueton LA,
|
||
Brunner HG,
|
||
Burke CJ,
|
||
Carr IM,
|
||
Carvalho DR,
|
||
Chandler KE,
|
||
Christen HJ,
|
||
Corry PC,
|
||
Cowan FM,
|
||
Cox H,
|
||
D'Arrigo S,
|
||
Dean J,
|
||
De Laet C,
|
||
De Praeter C,
|
||
Dery C,
|
||
Ferrie CD,
|
||
Flintoff K,
|
||
Frints SG,
|
||
Garcia-Cazorla A,
|
||
Gener B,
|
||
Goizet C,
|
||
Goutieres F,
|
||
Green AJ,
|
||
Guet A,
|
||
Hamel BC,
|
||
Hayward BE,
|
||
Heiberg A,
|
||
Hennekam RC,
|
||
Husson M,
|
||
Jackson AP,
|
||
Jayatunga R,
|
||
Jiang YH,
|
||
Kant SG,
|
||
Kao A,
|
||
King MD,
|
||
Kingston HM,
|
||
Klepper J,
|
||
van der Knaap MS,
|
||
Kornberg AJ,
|
||
Kotzot D,
|
||
Kratzer W,
|
||
Lacombe D,
|
||
Lagae L,
|
||
Landrieu PG,
|
||
Lanzi G,
|
||
Leitch A,
|
||
Lim MJ,
|
||
Livingston JH,
|
||
Lourenco CM,
|
||
Lyall EG,
|
||
Lynch SA,
|
||
Lyons MJ,
|
||
Marom D,
|
||
McClure JP,
|
||
McWilliam R,
|
||
Melancon SB,
|
||
Mewasingh LD,
|
||
Moutard ML,
|
||
Nischal KK,
|
||
Ostergaard JR,
|
||
Prendiville J,
|
||
Rasmussen M,
|
||
Rogers RC,
|
||
Roland D,
|
||
Rosser EM,
|
||
Rostasy K,
|
||
Roubertie A,
|
||
Sanchis A,
|
||
Schiffmann R,
|
||
Scholl-Burgi S,
|
||
Seal S,
|
||
Shalev SA,
|
||
Corcoles CS,
|
||
Sinha GP,
|
||
Soler D,
|
||
Spiegel R,
|
||
Stephenson JB,
|
||
Tacke U,
|
||
Tan TY,
|
||
Till M,
|
||
Tolmie JL,
|
||
Tomlin P,
|
||
Vagnarelli F,
|
||
Valente EM,
|
||
Van Coster RN,
|
||
Van der Aa N,
|
||
Vanderver A,
|
||
Vles JS,
|
||
Voit T,
|
||
Wassmer E,
|
||
Weschke B,
|
||
Whiteford ML,
|
||
Willemsen MA,
|
||
Zankl A,
|
||
Zuberi SM,
|
||
Orcesi S,
|
||
Fazzi E,
|
||
Lebon P,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2007 Oct;81(4):713-25.
|
||
Epub 2007 Sep 4
|
||
doi: 10.1086/521373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17846997" target="_blank">17846997</a><a href="/pmc/articles/PMC2227922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%204%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 (50)</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/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/35786528">Hematologic abnormalities in Aicardi Goutières Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang LA,
|
||
Gavazzi F,
|
||
D'Aiello R,
|
||
Isaacs D,
|
||
Bronner N,
|
||
Arici ZS,
|
||
Flores Z,
|
||
Jan A,
|
||
Scher C,
|
||
Sherbini O,
|
||
Behrens EM,
|
||
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Park S,
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Gavazzi F,
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Adang LA,
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Ayuk LA,
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Van Eyck L,
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Seabra L,
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Barrea C,
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Battini R,
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Belot A,
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Berg S,
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Billette de Villemeur T,
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Bley AE,
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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,
|
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Taber S,
|
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Terreri MT,
|
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Tifft C,
|
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Torgerson T,
|
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Tosi L,
|
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Van Royen-Kerkhof A,
|
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Wampler Muskardin T,
|
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Canna SW,
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Goldbach-Mansky R</span><br />
|
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<span class="medgenPMjournal">J Clin Invest</span>
|
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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/17846997">Clinical and molecular phenotype of Aicardi-Goutieres syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rice G,
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Patrick T,
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Parmar R,
|
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Taylor CF,
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Montalto SA,
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Blair EM,
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Blau N,
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Brueton LA,
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Brunner HG,
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Burke CJ,
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Carvalho DR,
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Christen HJ,
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Corry PC,
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Cowan FM,
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D'Arrigo S,
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Dean J,
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Ferrie CD,
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Frints SG,
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Goutieres F,
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Guet A,
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Hamel BC,
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Hayward BE,
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Heiberg A,
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Hennekam RC,
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Husson M,
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Jackson AP,
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Jayatunga R,
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Jiang YH,
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Kant SG,
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Kao A,
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King MD,
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Kingston HM,
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Klepper J,
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van der Knaap MS,
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Kornberg AJ,
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Kotzot D,
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Kratzer W,
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Lacombe D,
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Lagae L,
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Landrieu PG,
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Lanzi G,
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Leitch A,
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Lim MJ,
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Livingston JH,
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Lourenco CM,
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Lyall EG,
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Lynch SA,
|
||
Lyons MJ,
|
||
Marom D,
|
||
McClure JP,
|
||
McWilliam R,
|
||
Melancon SB,
|
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Mewasingh LD,
|
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Moutard ML,
|
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Nischal KK,
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Ostergaard JR,
|
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Prendiville J,
|
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Rasmussen M,
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Rogers RC,
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Roland D,
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Rosser EM,
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Rostasy K,
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Roubertie A,
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Sanchis A,
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Schiffmann R,
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Scholl-Burgi S,
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Seal S,
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Shalev SA,
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Corcoles CS,
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Sinha GP,
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Soler D,
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Spiegel R,
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Stephenson JB,
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Tacke U,
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Tan TY,
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Till M,
|
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Tolmie JL,
|
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Tomlin P,
|
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Vagnarelli F,
|
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Valente EM,
|
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Van Coster RN,
|
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Van der Aa N,
|
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Vanderver A,
|
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Vles JS,
|
||
Voit T,
|
||
Wassmer E,
|
||
Weschke B,
|
||
Whiteford ML,
|
||
Willemsen MA,
|
||
Zankl A,
|
||
Zuberi SM,
|
||
Orcesi S,
|
||
Fazzi E,
|
||
Lebon P,
|
||
Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2007 Oct;81(4):713-25.
|
||
Epub 2007 Sep 4
|
||
doi: 10.1086/521373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17846997" target="_blank">17846997</a><a href="/pmc/articles/PMC2227922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aicardi-Goutieres%20syndrome%204%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 (37)</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/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,
|
||
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-Goutieres%20syndrome%204%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C1835912%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835912%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835912%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (43)</a></li>
|
||
<li><a href="/gtr/tests?term=C1835912%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1835912%5bDISCUI%5d" target="_blank">See all (50)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610333" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aicardi-Goutieres%20syndrome%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aicardi-goutieres%20syndrome%204)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606034" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10535[geneid]" target="_blank">View RNASEH2A variations in ClinVar</a></li><li><a href="/nuccore/255708431" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610333" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/aicardi_goutieres_syndrome_4" 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%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301648" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Aicardi-Goutieres%20syndrome%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Aicardi-Goutieres%20syndrome%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=332084" ref="log$=recordlinks">ClinVar</a>
|
||
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<div class="ralinkpop offscreen_noflow">C1835916[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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