{"orpha":169805,"name":"Moderate hemophilia A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Moderate congenital F8 deficiency","Moderate congenital factor VIII deficiency"],"definition":"A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 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-169805/","orphanet_url":"https://www.orpha.net/en/disease/detail/169805","names":{"fr":{"name":"Hémophilie A modérée","synonyms":["Déficit congénital modéré en F8","Déficit congénital modéré en facteur VIII"],"definition":"Forme modérément sévère d'hémophilie&#8239;A, caractérisée par un déficit en facteur VIII (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."},"de":{"name":"Hämophilie A, mittelschwere","synonyms":["Faktor-VIII-Mangel, kongenitaler, mittelschwerer","Mittelschwerer angeborener F8-Mangel"],"definition":"Eine mittelschwere Form der Hämophilie A, die durch einen Faktor-VIII-Mangel (biologische Aktivität zwischen 1 und 5 IE/dL) gekennzeichnet ist und zu anormalen Blutungen infolge kleinerer Verletzungen oder nach Traumata, Operationen oder Zahnextraktionen führt. Spontanblutungen sind selten."},"es":{"name":"Hemofilia A moderada","synonyms":["Deficiencia moderada congénita de F8","Deficiencia moderada congénita de factor VIII"],"definition":"Es una forma moderadamente grave de hemofilia A caracterizada por deficiencia del factor VIII (actividad biológica entre 1 y 5 UI/dl) que provoca sangrado anómalo como resultado de lesiones menores o después de un traumatismo, cirugía o extracción dental. Las hemorragias espontáneas son infrecuentes"},"it":{"name":"Emofilia A moderata","synonyms":["Deficit congenito moderato del fattore VIII","Deficit congenito moderato di F8"],"definition":"Si tratta di una forma di emofilia A moderatamente grave, caratterizzata da un deficit del fattore VIII (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 A","synonyms":["Matige congenitale F8-deficiëntie","Matige congenitale deficiëntie van factor VIII"],"definition":"Een matig ernstige vorm van hemofilie A, gekenmerkt door deficiëntie van factor VIII (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 hoofdzakelijk mannen, maar kan ook waargenomen worden bij vrouwelijke dragers van causale mutaties van de ziekte."},"pt":{"name":"Hemofilia A moderada","synonyms":["Deficiência congénita moderada de F8","Deficiência congénita moderada de factor VIII"],"definition":"Forma moderadamente grave de hemofilia A caracterizada por deficiência do fator VIII (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 A","synonyms":["Umiarkowanie ciężki Niedobór czynnika VIII"],"definition":"Umiarkowanie ciężka postać hemofilii A charakteryzująca się niedoborem czynnika VIII (aktywność biologiczna od 1 do 5 IU/dL), prowadząca do nieprawidłowych krwawień w wyniku drobnych skaleczeń, urazów, zabiegów chirurgicznych lub ekstrakcji zęba. Spontaniczne krwotoki są rzadkie. Schorzenie to dotyczy głównie mężczyzn, ale można także wystąpić u kobiet nosicielek mutacji sprawczej."},"cs":{"name":"Středně těžká hemofilie A","synonyms":["Středně těžký deficit faktoru VIII"]},"uk":{"name":"Помірна гемофілія А","synonyms":["Помірний вроджений дефіцит F8","Помірний вроджений дефіцит фактора VIII"],"definition":"A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 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A型","synonyms":["中重度因子VIII缺乏"],"definition":"中重度血友病A是一种血友病A（见本术语）的分型，其特征为凝血因子VIII缺乏，导致轻伤、手术或拔牙后异常出血。"},"tr":{"name":"Orta derecede ağır hemofili A","synonyms":["Orta derecede 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":"0015720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272323","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":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-24","source":"20301578[PMID]_23815950[PMID]_30341523[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"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:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011889","label":"Bleeding with minor or no trauma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100773","label":"Cartilage destruction","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:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","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},{"hpo":"HP:0100310","label":"Epidural hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Very rare (<4-1%)","criteria":null}]}}