{"orpha":169802,"name":"Severe hemophilia A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Severe congenital F8 deficiency","Severe congenital factor VIII deficiency"],"definition":"A severe form of hemophilia A characterized by a large deficiency of factor VIII (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-169802/","orphanet_url":"https://www.orpha.net/en/disease/detail/169802","names":{"fr":{"name":"Hémophilie A sévère","synonyms":["Déficit congénital sévère en F8","Déficit congénital sévère en facteur VIII"],"definition":"Forme sévère d'hémophilie&#8239;A, caractérisée par un déficit important en facteur VIII (taux < 1 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 A, schwere","synonyms":["Faktor-VIII-Mangel, kongenitaler, schwerer","Schwerer angeborener F8-Mangel"],"definition":"Eine schwere Form der Hämophilie A, die durch einen ausgeprägten Mangel an Faktor VIII (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 A grave","synonyms":["Deficiencia grave congénita de F8","Deficiencia grave congénita de factor VIII"],"definition":"Forma grave de hemofilia A caracterizada por una gran deficiencia de factor VIII (actividad biológica <1 UI/dL) que provoca frecuentes hemorragias espontáneas y hemorragias anómalas como consecuencia de pequeñas lesiones, traumatismo, una intervención quirúrgica o una extracción dental. Afecta principalmente a varones, pero también puede observarse en mujeres portadoras de mutaciones causantes de la enfermedad."},"it":{"name":"Emofilia A grave","synonyms":["Deficit congenito grave del fattore VIII","Deficit congenito grave di F8"],"definition":"Si tratta di una forma grave di emofilia A, caratterizzata da un deficit significativo del fattore VIII (attività biologica <1 IU/dL), che causa emorragie spontanee frequenti e sanguinamenti anomali a seguito di piccole ferite, traumi, interventi chirurgici o estrazioni dentali."},"nl":{"name":"Ernstige hemofilie A","synonyms":["Ernstige congenitale F8-deficiëntie","Ernstige congenitale deficiëntie van factor VIII"],"definition":"Een ernstige vorm van hemofilie A, gekenmerkt door grote deficiëntie van factor VIII (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 A grave","synonyms":["Deficiência congénita grave de F8","Deficiência congénita grave de factor VIII"],"definition":"Forma grave de hemofilia A caracterizada por uma deficiência major de fator VIII (atividade biológica <1 UI/dL) que origina episódios frequentes de hemorragia espontânea 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 A","synonyms":["Ciężki Niedobór czynnika VIII"],"definition":"Ciężka postać hemofilii A, która charakteryzuje się znacznym niedoborem czynnika VIII (aktywność biologiczna inf 1 IU/dl) i prowadzi do częstych samoistnych krwotoków i nieprawidłowych krwawień w wyniku drobnych skaleczeń, urazów, operacji lub ekstrakcji zęba. Dotyczy głównie mężczyzn, ale objawy mogą wystąpić również u kobiet nosicielek mutacji powodującej chorobę."},"cs":{"name":"Těžká hemofilie A","synonyms":["Těžký deficit faktoru VIII"]},"uk":{"name":"Важка форма гемофілії А","synonyms":["Тяжка вроджена недостатність F8","Тяжкий вроджений дефіцит фактора VIII"],"definition":"A severe form of hemophilia A characterized by a large deficiency of factor VIII (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A型","synonyms":["重度因子VIII缺乏"],"definition":"重度血友病A是一种血友病A（见本术语）的分型，其特征为大量凝血因子VIII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 A","synonyms":["Ağır faktör VIII eksikliği"]}},"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":"attributed","validated":true},{"source":"MONDO","code":"0015719","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272322","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]","hgnc":"3546","ensembl":"ENSG00000185010","omim":"300841","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-02","source":"23815950[PMID]_12648975[PMID]_20301578[PMID]","terms":[{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003125","label":"Reduced factor VIII activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001934","label":"Persistent bleeding after trauma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012541","label":"Cephalohematoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100310","label":"Epidural hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005187","label":"Progressive joint destruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030137","label":"Prolonged bleeding following circumcision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008330","label":"Reduced von Willebrand factor activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100309","label":"Subdural hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Occasional (29-5%)","criteria":null}]}}