{"orpha":328,"name":"Congenital factor X deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital Stuart factor deficiency","Stuart-Prower factor deficiency"],"definition":"A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-328/","orphanet_url":"https://www.orpha.net/en/disease/detail/328","names":{"fr":{"name":"Déficit congénital en facteur X","synonyms":["Déficit congénital en facteur Stuart","Déficit en facteur Stuart-Prower"],"definition":"Coagulopathie génétique rare héréditaire due à une réduction de l'activité et/ou de l'antigène facteur X (FX) et caractérisé par des hémorragies de sévérité variable."},"de":{"name":"Faktor X-Mangel, kongenitaler","synonyms":["Stuart-Faktor-Mangel, kongenitaler","Stuart-Prower-Faktor-Mangel, kongenitaler"],"definition":"Eine seltene hereditäre Blutungsstörung mit vermindertem Antigen und/oder verminderter Aktivität des Faktors X (FX), die durch leichte bis schwere Blutungssymptome gekennzeichnet ist."},"es":{"name":"Deficiencia congénita del factor X","synonyms":["Deficiencia congénita del factor Stuart"],"definition":"Es un trastorno de la coagulación hereditario poco frecuente, con una reducción de la actividad y/o del antígeno factor X (FX) y caracterizado por manifestaciones hemorrágicas de leves a graves."},"it":{"name":"Deficit congenito del fattore X","synonyms":["Deficit congenito del fattore di Stuart","Deficit del fattore di Stuart-Prower"],"definition":"Si tratta di una malattia emorragica ereditaria rara, associata ad una diminuzione dell'antigene e/o dell'attività del fattore X (FX), caratterizzata da sintomi emorragici lievi-gravi."},"nl":{"name":"Congenitale factor X-deficiëntie","synonyms":["Congenitale deficiëntie van Stuart-factor","Deficiëntie van Stuart-Prower-factor"],"definition":"Een zeldzame hereditaire stollingsstoornis met verminderd antigeen en/of verminderde activiteit van factor X (FX), gekarakteriseerd door milde tot ernstige symptomen van bloeding."},"pt":{"name":"Deficiência de fator X congénita","synonyms":["Deficiência de fator de Stuart congénita"],"definition":"A deficiência congénita do fator X é uma patologia hemorrágica hereditária com uma diminuição do antigénio e/ou da atividade do fator X (FX) e é caracterizada por sintomas hemorrágicos ligeiros a graves."},"pl":{"name":"Wrodzony Niedobór czynnika X","synonyms":["Wrodzony Niedobór czynnika Stuarta","Wrodzony Niedobór czynnika Stuarta i Prowera"]},"cs":{"name":"Vrozený nedostatek faktoru X","synonyms":["Vrozený nedostatek Stuartova faktoru","Deficit Stuartova-Prowerové faktoru","Deficit Stuart-Prowerové faktoru"]},"uk":{"name":"Вроджений дефіцит фактора Х","synonyms":["Вроджена недостатність фактора Стюарта","Дефіцит фактора Стюарта-Прауера"],"definition":"A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms."},"zh":{"name":"先天性10因子缺乏","synonyms":["先天性Stuart因子缺乏"]},"tr":{"name":"Doğumsal faktör X eksikliği","synonyms":["Stuart-Prower faktör eksikliği","Doğumsal Stuart faktör eksikliği"]}},"xrefs":[{"source":"OMIM","code":"227600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1886781445"},{"source":"MONDO","code":"0009212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005171","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015519","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6404","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":169826,"name":"Congenital vitamin K-dependent coagulation factors deficiency","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F10","name":"coagulation factor X","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15892863[PMID]_26222694[PMID]_26309706[PMID]","hgnc":"3528","ensembl":"ENSG00000126218","omim":"613872","loci":["13q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2008[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-16","source":"23560890[PMID]_9695984[PMID]_27124643{PMID]_30901144[PMID]","terms":[{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008321","label":"Reduced factor X activity","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Very frequent (99-80%)","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:0011884","label":"Abnormal umbilical stump bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025328","label":"Antepartum hemorrhage","frequency":"Occasional (29-5%)","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:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","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:0030140","label":"Oral cavity bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011854","label":"Hemoperitoneum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}