{"orpha":326,"name":"Congenital factor V deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Owren disease","Parahemophilia","Proaccelerin deficiency"],"definition":"Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-326/","orphanet_url":"https://www.orpha.net/en/disease/detail/326","names":{"fr":{"name":"Déficit congénital en facteur V","synonyms":["Déficit en proaccélerine","Maladie d'Owren","Parahémophilie"],"definition":"Le déficit congénital en facteur V est un trouble héréditaire de coagulation dû à une réduction du taux de facteur V (FV) plasmatique et caractérisé par des hémorragies de sévérité variable."},"de":{"name":"Faktor V-Mangel, kongenitaler","synonyms":["Owren-Krankheit","Parahämophilie","Proaccelerinmangel"],"definition":"Der Kongenitale Faktor V-Mangel ist eine erbliche Blutungsneigung mit vermindertem Plasmaspiegel des Faktors V (FV) und leichten bis schweren Blutungen."},"es":{"name":"Deficiencia congénita del factor V","synonyms":["Deficiencia de proacelerina","Enfermedad de Owren","Parahemofilia"],"definition":"La deficiencia congénita de factor V es un trastorno hereditario de la coagulación, debido a una reducción del nivel de factor V (FV) plasmático y caracterizado por hemorragias de gravedad variable."},"it":{"name":"Deficit congenito del fattore V","synonyms":["Deficit di proaccelerina","Malattia di Owren","Paraemofilia"]},"nl":{"name":"Congenitale factor V-deficiëntie","synonyms":["Parahemofilie","Proaccelerinedeficiëntie","Ziekte van Owren"],"definition":"Congenitale factor V-deficiëntie is een erfelijke bloedingsstoornis als gevolg van verlaagd gehalte van factor V (FV) in plasma, gekarakteriseerd door milde tot ernstige bloedingssymptomen."},"pt":{"name":"Deficiência de fator V congénita","synonyms":["Disfunção plaquetária tipo Quebec"],"definition":"A deficiência congénita do fator V é uma patologia hemorrágica hereditária causada por níveis plasmáticos reduzidos de fator V (FV) e caracterizada por sintomas hemorrágicos ligeiros a graves."},"pl":{"name":"Wrodzony Niedobór czynnika V","synonyms":["Choroba Owrena","Niedobór proakceleryny","Parahemofilia"]},"cs":{"name":"Vrozený deficit faktoru V","synonyms":["Owrenova nemoc","Parahemofilie","Deficit proakcelerinu","Owrenova parahemofilie"]},"uk":{"name":"Вроджений дефіцит фактора V","synonyms":["Хвороба Оурена","Парагемофілія","Дефіцит проакцелерину"],"definition":"Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms."},"zh":{"name":"先天性V因子缺乏症","synonyms":["促凝血球蛋白原缺乏症"]},"tr":{"name":"Doğumsal faktör V eksikliği","synonyms":["Owren hastalığı","Parahemofili","Proaccelerin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"227400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1969994731"},{"source":"MONDO","code":"0009210","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005166","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015499","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2237","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048930","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":"F5","name":"coagulation factor V","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3542","ensembl":"ENSG00000198734","omim":"612309","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"ORPHANET_19598066[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-04","source":"26376169[PMID]_28270373[PMID]_31121608[PMID]","terms":[{"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:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001934","label":"Persistent bleeding after trauma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","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:0030137","label":"Prolonged bleeding following circumcision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011890","label":"Prolonged bleeding following procedure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Very rare (<4-1%)","criteria":null}]}}