{"orpha":169793,"name":"Severe hemophilia B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Severe congenital F9 deficiency","Severe congenital factor IX deficiency"],"definition":"A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169793/","orphanet_url":"https://www.orpha.net/en/disease/detail/169793","names":{"fr":{"name":"Hémophilie B sévère","synonyms":["Déficit congénital sévère en F9","Déficit congénital sévère en facteur IX"],"definition":"Forme sévère d'hémophilie&#8239;B caractérisée par un déficit important en facteur IX (taux <&#8239;1&#8239;UI/dl) entraînant des hémorragies spontanées fréquentes et des saignements anormaux à la suite de blessures mineures, d'un traumatisme, d'une chirurgie ou d'une extraction dentaire. La maladie peut toucher les hommes et les femmes porteurs des mutations en cause."},"de":{"name":"Hämophilie B, schwere","synonyms":["Faktor-IX-Mangel, kongenitaler, schwerer","Schwerer angeborener F9-Mangel"],"definition":"Eine schwere Form der Hämophilie B, die durch einen hochgradigen Mangel an Faktor IX (biologische Aktivität <1 IU/dL) gekennzeichnet ist und zu häufigen spontanen Blutungen und abnormalen Blutungen nach Bagatellverletzungen, Traumata, Operationen oder Zahnextraktionen führt. Die Erkrankung tritt vorwiegend im männlichen Geschlecht auf, kann aber auch weibliche Trägerinnen der krankheitsverursachenden Mutationen betreffen."},"es":{"name":"Hemofilia B grave","synonyms":["Deficiencia grave congénita de F9","Deficiencia grave congénita de factor IX"],"definition":"Es una forma grave de hemofilia B caracterizada por una gran deficiencia del factor IX (actividad biológica <1 UI/dL) que provoca frecuentes hemorragias espontáneas y hemorragias anómalas como consecuencia de lesiones menores, traumatismo, intervenciones quirúrgicas o extracción dental. Afecta principalmente a varones, pero también puede observarse en mujeres portadoras de mutaciones causantes de la enfermedad."},"it":{"name":"Emofilia B grave","synonyms":["Deficit congenito grave del fattore IX","Deficit congenito grave di F9"],"definition":"Si tratta di una forma grave di emofilia B, caratterizzata da un deficit significativo del fattore IX (attività biologica <1 IU/dL), che causa frequenti emorragie spontanee e sanguinamenti anomali a seguito di piccole ferite, traumi, interventi chirurgici o estrazioni dentali."},"nl":{"name":"Ernstige hemofilie B","synonyms":["Ernstige congenitale F9-deficiëntie","Ernstige congenitale deficiëntie van factor IX"],"definition":"Een ernstige vorm van hemofilie B, gekenmerkt door grote deficiëntie van factor IX (biologische activiteit minder dan 1 IU/dL) die leidt tot frequente spontane hemorragie en abnormale bloeding bij een klein letsel of na trauma, chirurgie of tandextractie. De aandoening treft vooral mannen, maar kan ook waargenomen worden bij vrouwelijke dragers van causale mutaties van de ziekte."},"pt":{"name":"Hemofilia B grave","synonyms":["Deficiência congénita grave de F9","Deficiência congénita grave de factor IX"],"definition":"Forma grave de hemofilia B caracterizada por uma deficiência major do fator IX (atividade biológica <1 UI/dL) que origina hemorragia espontânea frequente e sangramento anómalo como resultado de ferimentos leves ou após trauma, cirurgia ou extração dentária. Afeta principalmente homens, mas também pode ser observada em mulheres portadoras de mutações causadoras de doença."},"pl":{"name":"Ciężka hemofilia B","synonyms":["Ciężki Niedobór czynnika IX"],"definition":"Ciężka postać hemofilii B, która charakteryzuje się znacznym niedoborem czynnika IX (aktywność biologiczna inf 1 IU/dl) i prowadzi do częstych samoistnych krwotoków i nieprawidłowych krwawień w wyniku drobnych skaleczeń lub po urazie, zabiegu chirurgicznym lub ekstrakcji zęba. Dotyczy głównie mężczyzn, ale objawy mogą również wystąpić u kobiet nosicielek mutacji powodującej chorobę."},"cs":{"name":"Těžká hemofilie B","synonyms":["Těžký deficit faktoru IX"]},"uk":{"name":"Важка форма гемофілії В","synonyms":["Тяжкий вроджений дефіцит F9","Тяжкий вроджений дефіцит фактора IX"],"definition":"A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations."},"zh":{"name":"重度血友病B型","synonyms":["重度因子Ⅸ缺乏"],"definition":"重度血友病B是一种血友病B（见该术语）的分型，其特征为大量凝血因子IX缺乏，导致频繁的自发性出血和轻伤、手术或拔牙后异常出血。"},"tr":{"name":"Ağır hemofili B","synonyms":["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":"1209364172"},{"source":"MONDO","code":"0015715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679576","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":0.8,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}