{"orpha":51,"name":"Aicardi-Goutières syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Encephalopathy with basal ganglia calcification","Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid"],"definition":"A rare inherited subacute encephalopathy characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51/","orphanet_url":"https://www.orpha.net/en/disease/detail/51","names":{"fr":{"name":"Syndrome d'Aicardi-Goutières","synonyms":["Encéphalopathie familiale avec calcifications intracrâniennes et lymphocytose chronique du LCR","Syndrome d'encéphalopathie-calcification des ganglions basaux"],"definition":"Encéphalopathie subaiguë héréditaire rare caractérisée par l'association variable d'une calcification des noyaux gris centraux, d'une leucodystrophie, d'une lymphocytose du liquide cérébrospinal (LCS) et d'une signalisation accrue de l'interféron de type&nbsp;I dans le sang et le LCS."},"de":{"name":"Aicardi-Goutières-Syndrom","synonyms":["Enzephalopathie mit Basalganglien-Kalzifikation","Enzephalopathie mit intrakranieller Verkalkung und chronischer CSF-Lymphozytose"],"definition":"Eine hereditäre subakute Enzephalopathie, die durch die variable Assoziation von Basalganglienverkalkung, Leukodystrophie, Liquor-Lymphozytose und Anzeichen einer verstärkten Typ-I-Interferon-Signalisierung in Blut und Liquor gekennzeichnet ist."},"es":{"name":"Síndrome de Aicardi-Goutières","synonyms":["Encefalopatía con calcificaciones intracraneales y linfocitosis crónica del líquido cefalorraquídeo","Encefalopatía con calcificación de los ganglios basales"],"definition":"Es una encefalopatía subaguda hereditaria poco frecuente caracterizada por la asociación variable de calcificación de los ganglios basales, leucodistrofia, linfocitosis en líquido cefalorraquídeo (LCR) y evidencia de una señalización aumentada de interferón tipo I en sangre y LCR."},"it":{"name":"Sindrome di Aicardi-Goutières","synonyms":["Encefalopatia con calcificazione dei gangli basali","Encefalopatia con calcificazione intracranica e linfocitosi cronica del liquido cerebrospinale"]},"nl":{"name":"Syndroom van Aicardi-Goutières","synonyms":["Encefalopathie met calcificatie van basale ganglia","Encefalopathie met intracraniële calcificatie en chronische lymfocytose van cerebrospinaal vocht"],"definition":"Een zeldzame erfelijke subacute encefalopathie, gekenmerkt door de variabele associatie van calcificatie van basale ganglia, leukodystrofie, lymfocytose van cerebrospinaal vocht (CSV), en bewijs van verhoogde signalering door type I interferon in bloed en CSV."},"pt":{"name":"Síndrome Aicardi-Goutieres","definition":"Encefalopatia subaguda hereditária rara caracterizada pela associação variável de calcificação dos gânglios da base, leucodistrofia, linfocitose do líquido cefalorraquidiano (LCR) e evidência de sinalização aumentada de interferon tipo I no sangue e no LCR."},"pl":{"name":"Zespół Aicardiego i Goutièresa","synonyms":["Encefalopatia z zwapnieniem wewnątrzczaszkowym i przewlekłą leukocytozą płynu mózgowo-rdzeniowego","Encefalopatia z zwapnieniem zwojów podstawnych"]},"cs":{"name":"Aicardiho-Goutièresův syndrom","synonyms":["Encefalopatie s kalcifikací bazálních ganglií","Encefalopatie s intrakraniální kalcifikací a chronickou lymfocytózou likvoru","Aicardi-Goutièresův syndrom"]},"uk":{"name":"Синдром Айкарді-Гутьєреса","synonyms":["Енцефалопатія з кальцифікацією базальних гангліїв","Енцефалопатія з внутрішньочерепною кальцифікацією та хронічним лімфоцитозом спинномозкової рідини"],"definition":"A rare inherited subacute encephalopathy characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF."},"zh":{"name":"Aicardi-GoutiÞres综合征","synonyms":["脑病伴颅内钙化和脑脊液慢性淋巴细胞增多"]},"tr":{"name":"Aicardi-GoutiÞres sendromu","synonyms":["Bazal gangliyon kalsifikasyonu ile seyreden ensefalopati","İntrakraniyal kalsifikasyon ile seyreden ensefalopati ve beyin omurilik sıvısının kronik lenfositozu"]}},"xrefs":[{"source":"OMIM","code":"225750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610181","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610329","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610333","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612952","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615010","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615846","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619486","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619487","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2025818872"},{"source":"MONDO","code":"0018866","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393591","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"575","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083189","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"IFIH1","name":"interferon induced with helicase C domain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24686847[PMID]_24995871[PMID]","hgnc":"18873","ensembl":"ENSG00000115267","omim":"606951","loci":["2q24.2"]},{"symbol":"ADAR","name":"adenosine deaminase RNA specific","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301648[PMID]_23001123[PMID]","hgnc":"225","ensembl":"ENSG00000160710","omim":"146920","loci":["1q21.3"]},{"symbol":"LSM11","name":"LSM11, U7 small nuclear RNA associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33230297[PMID]","hgnc":"30860","ensembl":"ENSG00000155858","omim":"617910","loci":["5q33.3"]},{"symbol":"RNASEH2A","name":"ribonuclease H2 subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301648[PMID]","hgnc":"18518","ensembl":"ENSG00000104889","omim":"606034","loci":["19p13.13"]},{"symbol":"RNASEH2B","name":"ribonuclease H2 subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301648[PMID]","hgnc":"25671","ensembl":"ENSG00000136104","omim":"610326","loci":["13q14.3"]},{"symbol":"RNASEH2C","name":"ribonuclease H2 subunit C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301648[PMID]","hgnc":"24116","ensembl":"ENSG00000172922","omim":"610330","loci":["11q13.1"]},{"symbol":"RNU7-1","name":"RNA, U7 small nuclear 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33230297[PMID]","hgnc":"34033","ensembl":"ENSG00000238923","omim":"617876","loci":["12p13.31"]},{"symbol":"SAMHD1","name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301648[PMID]_20842748[PMID]_19525956[PMID]","hgnc":"15925","ensembl":"ENSG00000101347","omim":"606754","loci":["20q11.23"]},{"symbol":"TREX1","name":"three prime repair exonuclease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301648[PMID]_16845398[PMID]_17357087[PMID]_20799324[PMID]","hgnc":"12269","ensembl":"ENSG00000213689","omim":"606609","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301648[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-07","source":"37515439[PMID]_20301648[PMID]_29239743[PMID]_27260006[PMID]_26445875[PMID]_27604406[PMID]_26052098[PMID]_24995871[PMID]_24686847[PMID]_23001123[PMID]_21633013[PMID]","terms":[{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007052","label":"Multifocal cerebral white matter abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009710","label":"Chilblains","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009704","label":"Chronic CSF lymphocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007076","label":"Extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009709","label":"Increased CSF interferon alpha","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030356","label":"Increased serum interferon-gamma level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001955","label":"Unexplained fevers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004809","label":"Neonatal alloimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004963","label":"Calcification of the aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005550","label":"Chronic lymphatic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040140","label":"Degeneration of the striatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030038","label":"Enchondroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011834","label":"Moyamoya phenomenon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very rare (<4-1%)","criteria":null}]}}