{"orpha":726047,"name":"Congenital amegakaryocytic thrombocytopenia-MPL","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CAMT-MPL","Congenital amegakaryocytic thrombocytopenia due to MPL","Congenital amegakaryocytic thrombocytopenia-MPL protooncogene, thrombopoietin receptor"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726047/","orphanet_url":"https://www.orpha.net/en/disease/detail/726047","names":{"fr":{"name":"Thrombocytopénie amégacaryocytaire congénitale-MPL","synonyms":["CAMT-MPL","Thrombocytopénie amégacaryocytaire congénitale par déficit en protéine MPL","Thrombocytopénie amégacaryocytaire congénitale par déficit en protéine MPL proto-oncogen, thrombopoietin receptor"]},"de":{"name":"Kongenitale amegakaryozytäre Thrombozytopenie, MPL-assoziierte","synonyms":["CAMT1","Angeborene amegakaryozytäre Thrombozytopenie durch MPL-Defizienz","Thrombozytopenie, amegakaryozytäre, kongenitale, Typ 1"]},"es":{"name":"Trombocitopenia amegacariocítica congénita asociada al gen MPL","synonyms":["CAMT-MPL","Trombocitopenia amegacariocítica congénita por protooncogén MPL, receptor de trombopoyetina"]},"it":{"name":"Trombocitopenia amegacariocitica congenita-MPL","synonyms":["CAMT-MPL","Trombocitopenia amegacariocitica congenita da MPL","Trombocitopenia amegacariocitica congenita-protooncogene MPL, recettore della trombopoietina"]},"nl":{"name":"Congenital amegakaryocytic thrombocytopenia-MPL","synonyms":["CAMT-MPL","Congenitale amegakaryocytaire trombocytopenie door MPL","Congenitale amegakaryocytaire trombocytopenie-MPL-proto-oncogen, trombopoëtinereceptor"]},"pt":{"name":"Congenital amegakaryocytic thrombocytopenia-MPL"},"pl":{"name":"Congenital amegakaryocytic thrombocytopenia-MPL","synonyms":["CAMT-MPL","Congenital amegakaryocytic thrombocytopenia due to MPL","Congenital amegakaryocytic thrombocytopenia-MPL protooncogene, thrombopoietin receptor"]},"cs":{"name":"Congenital amegakaryocytic thrombocytopenia-MPL","synonyms":["CAMT-MPL","Congenital amegakaryocytic thrombocytopenia due to MPL","Congenital amegakaryocytic thrombocytopenia-MPL protooncogene, thrombopoietin receptor"]}},"xrefs":[{"source":"OMIM","code":"604498","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":3319,"name":"Congenital amegakaryocytic thrombocytopenia","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"MPL","name":"MPL proto-oncogene, thrombopoietin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19302922[PMID]_24438083[PMID]","hgnc":"7217","ensembl":"ENSG00000117400","omim":"159530","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}