{"orpha":652522,"name":"Periodic fever-immunodeficiency-thrombocytopenia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PFITS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-652522/","orphanet_url":"https://www.orpha.net/en/disease/detail/652522","names":{"fr":{"name":"Syndrome de fièvre périodique-immunodéficience-thrombocytopénie","synonyms":["PFIT"]},"de":{"name":"Periodisches Fieber-Immundefekt-Thrombozytopenie-Syndrom","synonyms":["PFITS"]},"es":{"name":"Síndrome de fiebre periódica-inmunodeficiencia-trombocitopenia","synonyms":["PFITS"]},"it":{"name":"Sindrome febbre periodica-immunodeficienza-trombocitopenia","synonyms":["PFITS"]},"nl":{"name":"Periodieke koorts - immuundeficiëntie - trombocytopenie-syndroom","synonyms":["PFITS"]},"pt":{"name":"Síndrome de febre periódica-imunodeficiência-trombocitopenia","synonyms":["PFITS"]},"pl":{"name":"Zespół okresowa gorączka - niedobór odporności - małopłytkowość","synonyms":["PFITS"]},"cs":{"name":"Syndrom zahrnující periodickou horečku, imunodeficienci a trombocytopenii","synonyms":["PFITS"]},"uk":{"name":"Синдром періодичної лихоманки-імунодефіциту-тромбоцитопенії","synonyms":["PFITS"]}},"xrefs":[{"source":"OMIM","code":"150550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"WDR1","name":"WD repeat domain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29751004[PMID]_27994071[PMID]","hgnc":"12754","ensembl":"ENSG00000071127","omim":"604734","loci":["4p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":null}