{"orpha":599579,"name":"Factor V Amsterdam bleeding disorder","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FV Amsterdam bleeding disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-599579/","orphanet_url":"https://www.orpha.net/en/disease/detail/599579","names":{"fr":{"name":"Maladie hémorragique du facteur V d'Amsterdam","synonyms":["Maladie hémorragique du FV d'Amsterdam"]},"de":{"name":"Gerinnungsstörung, Faktor V-Amsterdam"},"es":{"name":"Trastorno de sangrado asociado al factor V tipo Amsterdam","synonyms":["Trastorno de sangrado asociado al FV tipo Amsterdam"]},"it":{"name":"Malattia emorragica del fattore V di Amsterdam","synonyms":["Malattia emorragica del FV di Amsterdam"]},"nl":{"name":"Stollingsstoornis door factor V Amsterdam","synonyms":["Stollingsstoornis door FV Amsterdam"]},"pt":{"name":"Doença hemorrágica factor V Amesterdão","synonyms":["Doença hemorrágica FV Amesterdão"]},"pl":{"name":"Skaza krwotoczna czynnik V Amsterdam","synonyms":["FV Amsterdam bleeding disorder"]},"cs":{"name":"Krvácivá porucha faktor V Amsterdam","synonyms":["FV Amsterdam bleeding disorder"]},"uk":{"name":"Порушення згортання крові за фактором V Амстердам"}},"xrefs":[{"source":"ICD-10","code":"D68.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.Z","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":599519,"name":"Factor V short isoforms-related bleeding disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F5","name":"coagulation factor V","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25634741[PMID]","hgnc":"3542","ensembl":"ENSG00000198734","omim":"612309","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25634741[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25634741[PMID]_ORPHANET"}],"phenotypes":null}