{"orpha":708651,"name":"Phosphoribosylformylglycinamidine synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PFAS deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708651/","orphanet_url":"https://www.orpha.net/en/disease/detail/708651","names":{"fr":{"name":"Déficit en phosphoribosylformylglycinamidine synthase","synonyms":["Déficit en PFAS"]},"de":{"name":"Phosphoribosylformylglycinamidin-Synthase-Defizienz","synonyms":["PFAS-Mangel"]},"es":{"name":"Deficiencia de fosforribosilformilglicinamidina sintasa","synonyms":["Deficiencia de PFAS"]},"it":{"name":"Deficit della fosforibosilformilglicinamidina sintasi","synonyms":["Deficit di PFAS"]},"nl":{"name":"Deficiëntie van fosforibosylformylglycinamidinesynthase","synonyms":["PFAS-deficiëntie"]},"pt":{"name":"Phosphoribosylformylglycinamidine synthase deficiency"},"pl":{"name":"Niedobór syntazy fosforybozyloformyloglicynoamidyny","synonyms":["PFAS deficiency"]},"cs":{"name":"Phosphoribosylformylglycinamidine synthase deficiency","synonyms":["PFAS deficiency"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PFAS","name":"phosphoribosylformylglycinamidine synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40421664[PMID]","hgnc":"8863","ensembl":"ENSG00000178921","omim":"602133","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"40421664[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"40421664[PMID]_ORPHANET"}],"phenotypes":null}