{"orpha":177929,"name":"Bleeding disorder in hemophilia B carriers","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-177929/","orphanet_url":"https://www.orpha.net/en/disease/detail/177929","names":{"fr":{"name":"Maladie hémorragique des porteurs d'hémophilie B","definition":"Maladie hémorragique rare se manifestant chez des porteuses de mutations du gène <i>F9</i> (Xq27.1) codant pour le facteur IX de coagulation (FIX), avec une activité biologique de FIX &#8805;0,4 UI/mL, caractérisée sur le plan clinique par des saignements anormaux à la suite de blessures mineures ou d'un traumatisme, d'une intervention chirurgicale ou d'une extraction dentaire. Exceptionnellement, des hémorragies peuvent survenir de manière spontanée. Le type de saignement le plus fréquent chez les porteuses sont les saignements menstruels abondants."},"de":{"name":"Symptomatische Form der Hämophilie B bei weiblichen Anlageträgerinnen","synonyms":["Blutungsstörung bei Anlageträgerinnen der Hämophilie B"],"definition":"Eine seltene Blutungsstörung bei weiblichen Überträgerinnen mit Mutationen im <i>F9</i>-Gen (Xq27.1), das für den Gerinnungsfaktor IX (FIX) kodiert. Die biologische Aktivität von FIX liegt &#8805;40 IU/dL und die Störung ist klinisch gekennzeichnet durch abnormale Blutungen als Folge kleinerer Verletzungen oder nach Traumata, Operationen oder Zahnextraktionen. Spontanblutungen können gelegentlich auftreten. Schwere Menstruationsblutungen sind die häufigste Art von Blutungen bei den Trägerinnen."},"es":{"name":"Trastorno de sangrado en portadores de hemofilia B","definition":"Es un trastorno hemorrágico poco frecuente asociado a mutaciones portadoras del gen <i>F9</i> (Xq27.1) que codifica el factor IX de coagulación (FIX), con una actividad biológica de FIX &#8805;40 UI/dL y caracterizado clínicamente por hemorragias anómalas a consecuencia de heridas leves o traumatismo, cirugía o extracción dental. Ocasionalmente pueden producirse hemorragias espontáneas. La hemorragia menstrual abundante es el tipo de sangrado más frecuente en las mujeres portadoras."},"it":{"name":"Malattia emorragica nelle portatrici di emofilia B"},"nl":{"name":"Stollingsstoornis bij dragers van hemofilie B","definition":"Een zeldzame stollingsstoornis geassocieerd met dragerschap van mutaties in het gen <i>F9</i> (Xq27.1), dat codeert voor coagulatiefactor IX (FIX), met een biologische activiteit van FIX van minstens 40 IU/dL, en klinisch gekenmerkt door abnormale bloeding als gevolg van kleine letsels of na trauma, chirurgie of tandextractie. Spontane hemorragie kan occasioneel optreden. Hevige menstruele bloeding is het meest voorkomende type van bloeding bij de dragers."},"pt":{"name":"Doença hemorrágica em portador hemofilia B","definition":"Doença hemorrágica rara associada a estado de portador com mutações no gene F9 (Xq27.1) que codifica o fator IX de coagulação (FIX), com atividade biológica de FIX ;40 UI/dL e caracterizado clinicamente por sangramento anómalo como resultado de ferimentos leves ou após trauma, cirurgia ou extração dentária. Hemorragias espontâneas podem ocorrer ocasionalmente. O sangramento menstrual intenso é o tipo de hemorragia mais frequente nas portadoras."},"pl":{"name":"Objawowa forma hemofilii B u kobiet nosicielek","synonyms":["Krwawienie u nosicieli hemofilii B"],"definition":"Rzadka skaza krwotoczna związana z nosicielstwem mutacji w genie F9 (Xq27.1), który koduje czynnik krzepnięcia IX (FIX), przy aktywności biologicznej FIX ≤ 40 IU/dl, klinicznie objawiająca się nieprawidłowym krwawieniem przy niewielkich zranieniach, po urazie, operacji lub ekstrakcji zęba. Sporadycznie mogą wystąpić samoistne krwotoki. Najczęstszym rodzajem krwawienia u nosicielek są obfite miesiączki."},"cs":{"name":"Porucha krvácení u nositelů hemofilie B"},"uk":{"name":"Порушення згортання крові у носіїв гемофілії В","definition":"A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers."},"zh":{"name":"女性B型血友病携带者症候","definition":"女性携带者症状性血友病B是一种血友病B（见该术语）的分型，发病于编码凝血因子IX的F9基因（Xq28）突变的女性。"},"tr":{"name":"Kadın taşıyıcılarda hemofili B'nin semptomatik formu","synonyms":["Bleeding disorder in hemophilia B carriers without Factor IX deficiency","Symptomatic form of hemophilia B in female carriers"]}},"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":"1463993018"},{"source":"UMLS","code":"C5680505","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":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}