{"orpha":714429,"name":"Pseudo-TORCH syndrome type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-TORCH syndrome associated to STAT2 mutation","STAT2-related pseudo-TORCH syndrome","PTORCH3","Pseudo-TORCH syndrome-3"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714429/","orphanet_url":"https://www.orpha.net/en/disease/detail/714429","names":{"fr":{"name":"Syndrome pseudo-TORCH type 3","synonyms":["PTORCH3","Pseudo-TORCH syndrome-3","Syndrome de pseudo-TORCH associé à des mutations de STAT2"]},"de":{"name":"Pseudo-TORCH-Syndrom Typ 3","synonyms":["Pseudo-TORCH-Syndrom, STAT2-assoziiertes","PTORCH3"]},"es":{"name":"Síndrome pseudo-TORCH tipo 3","synonyms":["Síndrome pseudo-TORCH asociado al gen STAT2","PTORCH3","Síndrome pseudo-TORCH asociado a una mutación en el gen STAT2","Síndrome pseudo-TORCH 3"]},"it":{"name":"Sindrome Pseudo-TORCH tipo 3","synonyms":["Sindrome Pseudo-TORCH-3","Sindrome Pseudo-TORCH correlata a STAT2","Sindrome pseudo-TORCH associata a mutazione del gene STAT2","PTORCH3"]},"nl":{"name":"Pseudo-TORCH-syndroom type 3","synonyms":["Pseudo-TORCH-syndroom geassocieerd met STAT2-mutatie","STAT2-gerelateerd pseudo-TORCH-syndroom","PTORCH3","Pseudo-TORCH-syndroom-3"]},"pt":{"name":"Pseudo-TORCH syndrome type 3"},"pl":{"name":"Zespół pseudo-TORCH typu 3","synonyms":["Pseudo-TORCH syndrome associated to STAT2 mutation","STAT2-related pseudo-TORCH syndrome","PTORCH3","Pseudo-TORCH syndrome-3"]},"cs":{"name":"Pseudo-TORCH syndrome type 3","synonyms":["Pseudo-TORCH syndrome associated to STAT2 mutation","STAT2-related pseudo-TORCH syndrome","PTORCH3","Pseudo-TORCH syndrome-3"]}},"xrefs":[{"source":"OMIM","code":"618886","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102005,"name":"Brain inflammatory disease","classifications":[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":"STAT2","name":"signal transducer and activator of transcription 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31836668[PMID]_32092142[PMID]_36753016[PMID]","hgnc":"11363","ensembl":"ENSG00000170581","omim":"600556","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}