{"orpha":169799,"name":"Mild hemophilia B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Mild congenital F9 deficiency","Mild congenital factor IX deficiency"],"definition":"A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169799/","orphanet_url":"https://www.orpha.net/en/disease/detail/169799","names":{"fr":{"name":"Hémophilie B mineure","synonyms":["Déficit congénital mineur en F9","Déficit congénital mineur en facteur IX"],"definition":"Forme légère d'hémophilie B, caractérisée par un léger déficit en facteur IX (taux compris entre 5 et 40 UI/dl) entraînant des saignements anormaux à la suite de blessures mineures, d'un traumatisme, d'une chirurgie ou d'une extraction dentaire. On n'observe pas d'hémorragies spontanées. La maladie peut toucher les hommes et les femmes porteurs des mutations en cause."},"de":{"name":"Hämophilie B, milde","synonyms":["Faktor-IX-Mangel, kongenitaler, milder","Milder angeborener F9-Mangel"],"definition":"Eine milde Form der Hämophilie B, die durch einen geringen Mangel an Faktor IX (biologische Aktivität zwischen 5 und 40 IE/dL) gekennzeichnet ist und zu abnormalen Blutungen infolge kleinerer Verletzungen oder nach Traumata, Operationen oder Zahnextraktionen führt. Spontanblutungen treten nicht auf. Die Krankheit kann sowohl männliche als auch weibliche Träger der krankheitsverursachenden Mutationen betreffen."},"es":{"name":"Hemofilia B leve","synonyms":["Deficiencia leve congénita de F9","Deficiencia leve congénita de factor IX"],"definition":"Es una forma leve de hemofilia B caracterizada por una pequeña deficiencia del factor IX (actividad biológica entre 5 y 40 UI/dL) que provoca hemorragias anómalas como consecuencia de heridas leves, traumatismo, intervenciones quirúrgicas o extracción dental. No se producen hemorragias espontáneas. La enfermedad puede afectar a hombres y mujeres portadores de las mutaciones causantes de la enfermedad."},"it":{"name":"Emofilia B lieve","synonyms":["Deficit congenito lieve del fattore IX","Deficit congenito lieve di F9"],"definition":"Si tratta di una forma lieve di emofilia B, caratterizzata da un modesto deficit del fattore IX (attività biologica compresa tra 5 e 40 IU/dL), che causa emorragie anomale a seguito di piccole ferite, traumi, interventi chirurgici o estrazioni dentali. Non si associa ad emorragie spontanee."},"nl":{"name":"Milde hemofilie B","synonyms":["Milde congenitale F9-deficiëntie","Milde congenitale deficiëntie van factor IX"],"definition":"Een milde vorm van hemofilie B, gekenmerkt door kleine deficiëntie van factor IX (biologische activiteit tussen 5 en 40 IU/dL) die leidt tot abnormale bloeding bij een klein letsel of na trauma, chirurgie of tandextractie. Spontane hemorragie komt niet voor. De aandoening kan mannen treffen, maar ook vrouwelijke dragers van causale mutaties van de ziekte."},"pt":{"name":"Hemofilia B ligeira","synonyms":["Deficiência congénita ligeira de F9","Deficiência congénita ligeira de factor IX"],"definition":"Forma leve de hemofilia B caracterizada por uma ligeira deficiência do fator IX (atividade biológica entre 5-40 UI/dL) que origina episódios hemorrágicos anómalos resultantes de ferimentos leves ou decorrentes de trauma, cirurgia ou extração dentária. Não ocorrem hemorragias espontâneas. Pode afetar homens e mulheres portadores de mutações causadoras de doença."},"pl":{"name":"Łagodna hemofilia B","synonyms":["Łagodny Niedobór czynnika IX"],"definition":"Łagodna postać hemofilii B, która charakteryzuje się niewielkim niedoborem czynnika IX (aktywność biologiczna między 5 a 40 IU/dL) i prowadzi do nieprawidłowych krwawień w wyniku drobnych skaleczeń lub po urazach, zabiegach chirurgicznych lub ekstrakcjach zębów. Spontaniczne krwotoki nie występują. Stan ten może dotyczyć mężczyzn i kobiet nosicielek mutacji powodującej chorobę."},"cs":{"name":"Mírná hemofilie B","synonyms":["Mírný deficit faktoru IX"]},"uk":{"name":"Легка гемофілія В","synonyms":["Легкий вроджений дефіцит F9","Легкий вроджений дефіцит фактора IX"],"definition":"A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations."},"zh":{"name":"轻度血友病B型","synonyms":["轻度因子Ⅸ缺乏"],"definition":"轻度血友病B是一种血友病B（见该术语）的分型，其特征为少量凝血因子IX缺乏，导致轻伤、手术或拔牙引起的异常出血。"},"tr":{"name":"Hafif hemofili B","synonyms":["Hafif faktör IX eksikliği"]}},"xrefs":[{"source":"OMIM","code":"306900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D67","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B11.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1810106678"},{"source":"MONDO","code":"0015717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98879,"name":"Hemophilia B","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F9","name":"coagulation factor IX","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3551","ensembl":"ENSG00000101981","omim":"300746","loci":["Xq27.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}