{"orpha":35909,"name":"Combined deficiency of factor V and factor VIII","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["F5F8D","FV and FVIII combined deficiency"],"definition":"A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35909/","orphanet_url":"https://www.orpha.net/en/disease/detail/35909","names":{"fr":{"name":"Déficit combiné en facteurs V et VIII","synonyms":["Déficit combiné en FV et FVIII","F5F8D"],"definition":"Coagulopathie rare due à la diminution des taux d'activité et d'antigène des facteurs V (FV) et VIII (FVIII), caractérisée par des symptômes hémorragiques légers à modérés."},"de":{"name":"Kombinierter Mangel an Faktor V und Faktor VIII","synonyms":["F5F8D","Faktor V und Faktor VIII, kombinierter Mangel"],"definition":"Eine seltene vererbte Blutungsstörung mit Verminderung des Antigenspiegels und der Aktivität der Faktoren V (FV) und VIII (FVIII). Kennzeichen dieses kombinierten Mangels sind milde bis moderate Blutungssymptome."},"es":{"name":"Deficiencia combinada de los factores V y VIII","synonyms":["Deficiencia combinada de FV y FVIII","F5F8D"],"definition":"Es un trastorno hereditario de la coagulación, poco frecuente debido a una reducción de la actividad y de los niveles de antígeno de los factores V (FV) y VIII (FVIII), caracterizado por síntomas hemorrágicos de leves a moderados."},"it":{"name":"Deficit combinato del fattore V e del fattore VIII","synonyms":["Deficit combinato di FV e FVIII","F5F8D"],"definition":"Si tratta di una malattia emorragica ereditaria rara, causata dalla riduzione dell'attività e delle quantità degli antigeni dei fattori V (FV) e VIII (FVIII), caratterizzata da sintomi emorragici lievi-moderati."},"nl":{"name":"Gecombineerde deficiëntie van factor V en factor VIII","synonyms":["F5F8D","Gecombineerde deficiëntie van FV en FVIII"],"definition":"Een zeldzame hereditaire stollingsstoornis te wijten aan verminderde activiteit en antigeengehalte van zowel factor V (FV) als factor VIII (FVIII) en gekarakteriseerd door milde tot matige symptomen van bloeding."},"pt":{"name":"Deficiência combinada de fator V e fator VIII","synonyms":["Deficiência combinada FV e FVIII"],"definition":"A deficiência combinada do fator V e do fator VIII é uma patologia hemorrágica hereditária causada pela redução da atividade e níveis de antigénios de ambos os fatores V (FV) e VIII (FVIII) e caracterizada por sintomas hemorrágicos ligeiros a moderados."},"pl":{"name":"Złożony niedobór czynnika V i czynnika VII","synonyms":["F5F8D","FV and FVIII combined deficiency"]},"cs":{"name":"Kombinovaný deficit faktoru V a VIII","synonyms":["F5F8D","Kombinovaný deficit FV a FVIII","Familiární mnohočetný deficit koagulačních faktorů"]},"uk":{"name":"Комбінований дефіцит фактора V і фактора VIII","synonyms":["F5F8D","Комбінована недостатність FV та FVIII"],"definition":"A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms."},"zh":{"name":"凝血因子Ⅴ+Ⅷ联合缺乏症","synonyms":["家族性混合凝血因子缺乏症"]},"tr":{"name":"Faktör V ve faktör VIII'in kombine eksikliği","synonyms":["F5F8D","FV ve FVIII kombine eksiklik","Ailesel çoklu pıhtılaşma faktörü eksikliği"]}},"xrefs":[{"source":"OMIM","code":"227300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"227310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613625","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"184219764"},{"source":"MONDO","code":"0018175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565577","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"LMAN1","name":"lectin, mannose binding 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9546392[PMID]_16304051[PMID]","hgnc":"6631","ensembl":"ENSG00000074695","omim":"601567","loci":["18q21.32"]},{"symbol":"MCFD2","name":"multiple coagulation factor deficiency 2, ER cargo receptor complex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12717434[PMID]_16304051[PMID]","hgnc":"18451","ensembl":"ENSG00000180398","omim":"607788","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Iran, Islamic Republic of","status":"Validated","source":"9531348[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-15","source":"23852824[PMID]_26599105[PMID]_27894217[PMID]_31558466[PMID]_29896340[PMID]","terms":[{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003225","label":"Reduced coagulation factor V activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003125","label":"Reduced factor VIII activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011889","label":"Bleeding with minor or no trauma","frequency":"Frequent (79-30%)","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:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030137","label":"Prolonged bleeding following circumcision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","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:0005261","label":"Joint hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very rare (<4-1%)","criteria":null}]}}