{"orpha":727861,"name":"YARS1-related multisystemic disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727861/","orphanet_url":"https://www.orpha.net/en/disease/detail/727861","names":{"fr":{"name":"Maladie multisystémique associée à YARS1"},"de":{"name":"YARS1-assoziierte Multisystemerkrankung"},"es":{"name":"Enfermedad multisistémica asociada al gen YARS1"},"it":{"name":"Malattia multisistemica correlata a YARS1"},"nl":{"name":"YARS1-gerelateerde multisystemische ziekte"},"pt":{"name":"YARS1-related multisystemic disease"},"pl":{"name":"YARS1-related multisystemic disease"},"cs":{"name":"YARS1-related multisystemic disease"}},"xrefs":[{"source":"OMIM","code":"619418","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"YARS1","name":"tyrosyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40608960[PMID]_34536092[PMID]","hgnc":"12840","ensembl":"ENSG00000134684","omim":"603623","loci":["1p35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"34536092[PMID]_40608960[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34536092[PMID]_40608960[PMID]_ORPHANET"}],"phenotypes":null}