{"orpha":169796,"name":"Moderate hemophilia B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Moderate congenital F9 deficiency","Moderate congenital factor IX deficiency"],"definition":"A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169796/","orphanet_url":"https://www.orpha.net/en/disease/detail/169796","names":{"fr":{"name":"Hémophilie B modérée","synonyms":["Déficit congénital modéré en F9","Déficit congénital modéré en facteur IX"],"definition":"Forme modérément sévère d'hémophilie B, caractérisée par un déficit en facteur IX (taux compris entre 1 et 5 UI/dl) entraînant des saignements anormaux à la suite de blessures mineures, d'un traumatisme, d'une chirurgie ou d'une extraction dentaire. Les hémorragies spontanées sont rares. La maladie peut toucher les hommes et les femmes porteurs des mutations en cause."},"de":{"name":"Hämophilie B, mittelschwere","synonyms":["Faktor-IX-Mangel, kongenitaler, mittelschwerer","Mittelschwerer angeborener F9-Mangel"],"definition":"Eine mittelschwere Form der Hämophilie B, die durch einen Mangel an Faktor IX (biologische Aktivität 1-5 IU/dL) gekennzeichnet ist und zu abnormalen Blutungen bei kleinen Verletzungen oder nach Traumata, Operationen oder Zahnextraktionen führt. Spontane Blutungen sind selten. Die Erkrankung tritt vorwiegend im männlichen Geschlecht auf, kann aber auch weibliche Trägerinnen der krankheitsverursachenden Mutationen betreffen."},"es":{"name":"Hemofilia B moderada","synonyms":["Deficiencia moderada congénita de F9","Deficiencia moderada congénita de factor IX"],"definition":"Es una forma moderadamente grave de hemofilia B caracterizada por la deficiencia del factor IX (actividad biológica de 1-5 UI/dL) que provoca hemorragias anómalas como consecuencia de lesiones menores, traumatismo, intervenciones quirúrgicas o extracción dental. Las hemorragias espontáneas son inusuales. La enfermedad afecta principalmente a varones, pero también puede observarse en mujeres portadoras de mutaciones causantes de la enfermedad."},"it":{"name":"Emofilia B moderata","synonyms":["Deficit congenito moderato di F9","Deficit congenito moderato del fattore IX"],"definition":"Si tratta di una forma di emofilia B moderatamente grave, caratterizzata da un deficit del fattore IX (attività biologica compresa tra 1 e 5 IU/dL), che causa emorragie anomale a seguito di piccole ferite, traumi, interventi chirurgici o estrazioni dentali. Le emorragie spontanee sono rare."},"nl":{"name":"Matige hemofilie B","synonyms":["Matige congenitale F9-deficiëntie","Matige congenitale deficiëntie van factor IX"],"definition":"Een matig ernstige vorm van hemofilie B, gekenmerkt door deficiëntie van factor IX (biologische activiteit tussen 1 en 5 IU/dL) die leidt tot abnormale bloeding bij een klein letsel of na trauma, chirurgie of tandextractie. Spontane hemorragie komt zelden voor. De aandoening treft vooral mannen, maar kan ook waargenomen worden bij vrouwelijke dragers van causale mutaties van de ziekte."},"pt":{"name":"Hemofilia B moderada","synonyms":["Deficiência congénita moderada de F9","Deficiência congénita moderada de factor IX"],"definition":"Forma moderadamente grave de hemofilia B caracterizada por deficiência do fator IX (atividade biológica entre 1-5 UI/dL) que origina episódios hemorrágicos anómalos resultantes de ferimentos leves ou decorrentes de trauma, cirurgia ou extração dentária. Hemorragias espontâneas são raras. Afeta principalmente homens, mas também pode ser observada em mulheres portadoras de mutações causadoras de doença."},"pl":{"name":"Umiarkowanie ciężka hemofilia B","synonyms":["Umiarkowanie ciężki Niedobór czynnika IX"],"definition":"Umiarkowanie ciężka postać hemofilii B, która charakteryzuje się niedoborem czynnika IX (aktywność biologiczna 1-5 IU/dl) i prowadzi do nieprawidłowych krwawień w wyniku drobnych skaleczeń lub po urazach, zabiegach chirurgicznych lub ekstrakcjach zębów. Samoistne krwotoki są rzadkie. Stan ten dotyczy głównie mężczyzn, ale można go również zaobserwować u kobiet nosicielek mutacji powodującej chorobę."},"cs":{"name":"Středně těžká hemofilie B","synonyms":["Středně těžký deficit faktoru IX"]},"uk":{"name":"Помірна гемофілія В","synonyms":["Помірний вроджений дефіцит F9","Помірний вроджений дефіцит фактора IX"],"definition":"A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations."},"zh":{"name":"中重度血友病B型","synonyms":["中重度因子Ⅸ缺乏"],"definition":"中重度血友病B是一种血友病B（见该术语）的分型，其特征为凝血因子IX缺乏，导致轻伤、手术或拔牙后异常出血。"},"tr":{"name":"Orta derecede ağır hemofili B","synonyms":["Orta derecede ağır 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":"1741015882"},{"source":"MONDO","code":"0015716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679575","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}