{"orpha":177926,"name":"Bleeding disorder in hemophilia A 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>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &#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-177926/","orphanet_url":"https://www.orpha.net/en/disease/detail/177926","names":{"fr":{"name":"Maladie hémorragique des porteurs d'hémophilie A","definition":"Maladie hémorragique rare associée à des mutations conductrices du gène <i>F8</i> (Xq28), codant pour le facteur VIII de coagulation (FVIII), et une activité biologique de FVIII &#8805; 40 UI/dL. Sur le plan clinique, la maladie est caractérisée par des hémorragies anormales survenant à la suite de blessures mineures ou d'un traumatisme, d'une intervention chirurgicale ou d'une extraction dentaire. Plus rarement, des hémorragies spontanées peuvent survenir. Des saignements menstruels abondants sont le type de saignement le plus fréquent chez les femmes porteuses."},"de":{"name":"Symptomatische Form der Hämophilie A bei weiblichen Anlageträgerinnen","synonyms":["Blutungsstörung bei Anlageträgerinnen der Hämophilie A"],"definition":"Eine seltene Blutungsstörung bei weiblichen Überträgerinnen mit Mutationen im <i>F8</i>-Gen (Xq28), das für den Gerinnungsfaktor VIII (FVIII) kodiert.Die biologische Aktivität von FVIII liegt &#8805;40 IU/dL und die Störung ist klinisch gekennzeichnet durch abnorme Blutungen infolge 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 A","definition":"Es un trastorno hemorrágico poco frecuente asociado a mutaciones portadoras del gen <i>F8</i> (Xq28) que codifica el factor VIII de coagulación (FVIII), con una actividad biológica de FVIII &#8805;40 UI/dL y caracterizado clínicamente por hemorragias anómalas a consecuencia de heridas leves, 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 A"},"nl":{"name":"Stollingsstoornis bij dragers van hemofilie A","definition":"Een zeldzame stollingsstoornis geassocieerd met dragerschap van mutaties in het gen <i>F8</i> (Xq28), dat codeert voor coagulatiefactor VIII (FVIII), met een biologische activiteit van FVIII 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 A","definition":"Doença hemorrágica rara associada estado de portador com mutações no gene F8 (Xq28) que codifica o fator VIII de coagulação (FVIII), com atividade biológica de FVIII &#8805;40 UI/dL e caracterizada 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 A u kobiet nosicielek","synonyms":["Krwawienie u nosicieli hemofilii A"],"definition":"Rzadka skaza krwotoczna związana z nosicielstwem mutacji w genie F8 (Xq28), który koduje czynnik krzepnięcia VIII (FVIII), przy aktywności biologicznej FVIII ≤ 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 A"},"uk":{"name":"Порушення згортання крові у носіїв гемофілії А","definition":"A rare bleeding disorder in association with carrier mutations in the <i>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &#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A型血友病女携带者症候","definition":"女性携带者症状性血友病A是一种血友病A（见该术语）的分型，发病于编码凝血因子VIII的F8基因（Xq28）突变的女性。"},"tr":{"name":"Kadın taşıyıcılarda hemofili A'nın semptomatik formu","synonyms":["Bleeding disorder in hemophilia A carriers without Factor VIII deficiency","Symptomatic form of hemophilia A in female carriers"]}},"xrefs":[{"source":"OMIM","code":"306700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D66","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B10.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1533214918"},{"source":"UMLS","code":"C5680504","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98878,"name":"Hemophilia A","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F8","name":"coagulation factor VIII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301578[PMID]_25611311[PMID]_19302446[PMID]","hgnc":"3546","ensembl":"ENSG00000185010","omim":"300841","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-24","source":"13739554[PMID]_16551972[PMID]_20301578[PMID]_25832012[PMID]","terms":[{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003125","label":"Reduced factor VIII activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011890","label":"Prolonged bleeding following procedure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Very rare (<4-1%)","criteria":null}]}}