{"orpha":329,"name":"Congenital factor XI deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hemophilia C","PTA deficiency","Plasma thromboplastin antecedent deficiency","Rosenthal factor deficiency","Rosenthal syndrome"],"definition":"A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329/","orphanet_url":"https://www.orpha.net/en/disease/detail/329","names":{"fr":{"name":"Déficit congénital en facteur XI","synonyms":["Déficit en PTA","Déficit en facteur Rosenthal","Déficit en précurseur de la thromboplastine plasmatique","Hémophilie C","Syndrome de Rosenthal"],"definition":"Maladie hémorragique rare caractérisée par des niveaux et/ou une activité réduits du facteur XI (FXI) qui se manifeste par des saignements modérés, survenant généralement après un traumatisme ou une intervention chirurgicale."},"de":{"name":"Faktor XI-Mangel, kongenitaler","synonyms":["Hämophilie C","Plasma-Thromboplasmin-Antecedent (PTA)-Mangel","Rosenthal-Faktor-Mangel","Rosenthal-Syndrom"],"definition":"Der Kongenitale Faktor XI-Mangel ist eine erbliche Blutungsneigung mit Verminderung des Spiegels und/oder der Aktivität des Faktors XI (FXI). Kennzeichen dieses Mangels sind moderate Blutungssymptome, meist nach Trauma oder chirurgischen Eingriffen."},"es":{"name":"Deficiencia congénita del factor XI","synonyms":["Deficiencia del antecedente de la tromboplastina plasmática (PTA)","Deficiencia del factor Rosenthal","Hemofilia C","Síndrome de Rosenthal"],"definition":"Es un trastorno hereditario de la coagulación poco frecuente, caracterizado por una reducción del nivel y/o de la actividad del factor XI (FXI), que resulta en síntomas hemorrágicos moderados, por lo general, después de un traumatismo o una cirugía."},"it":{"name":"Deficit congenito del fattore XI","synonyms":["Deficit del fattore di Rosenthal","Deficit dell'antecedente plasmatico della tromboplastina (PTA)","Emofilia C","Sindrome di Rosenthal"],"definition":"Si tratta di una malattia emorragica ereditaria rara, caratterizzata dalla riduzione dei livelli e/o dell'attività del fattore XI (FXI), che provoca sintomi emorragici moderati, di solito a seguito di traumi o di interventi chirurgici."},"nl":{"name":"Congenitale factor XI-deficiëntie","synonyms":["Congenitale factor 11-deficiëntie","Hemofilie C","PTA-deficiëntie","Plasmatromboplastine-antecedentdeficiëntie","Rosenthalfactordeficiëntie","Rosenthalsyndroom"],"definition":"Een zeldzame hereditaire stollingsstoornis, gekarakteriseerd door verminderde gehaltes en/of activiteit van factor XI (FXI), wat resulteert in matige symptomen van bloeding die meestal optreden na trauma of chirurgie."},"pt":{"name":"Deficiência de fator XI congénita","definition":"A deficiência congénita do factor XI é uma patologia hemorrágica hereditária caracterizada por atividade e níveis reduzidos do fator XI (FXI) resultando em sintomas hemorrágicos moderados, ocorrendo normalmente após traumatismo ou cirurgia."},"pl":{"name":"Wrodzony Niedobór czynnika XI","synonyms":["Hemofilia C","Niedobór czynnika przeciwhemofilowego C","Niedobór czynnika Rosenthala","Niedobór PTA","Zespół Rosenthala"]},"cs":{"name":"Vrozený nedostatek faktoru XI","synonyms":["Hemofilie C","PTA deficit"]},"uk":{"name":"Вроджений дефіцит фактора XI","synonyms":["Гемофілія С","Попередній дефіцит тромбопластину плазми","Дефіцит PTA","Дефіцит фактора Розенталя","Синдром Розенталя"],"definition":"A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery."},"zh":{"name":"先天性XI因子缺乏","synonyms":["血浆促凝血酶原激酶前体缺失症"]},"tr":{"name":"Doğumsal faktör XI eksikliği","synonyms":["Hemofili C","PTA eksikliği","Rosenthal sendromu","Rosenthal faktör eksikliği","Plazma tromboplastin antesedan eksikliği"]}},"xrefs":[{"source":"OMIM","code":"612416","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3B13","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"413739466"},{"source":"MONDO","code":"0012897","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9670","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016082","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":"F11","name":"coagulation factor XI","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18312365[PMID]_22159456[PMID]","hgnc":"3529","ensembl":"ENSG00000088926","omim":"264900","loci":["4q35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","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":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-02","source":"27216469[PMID]_1952475[PMID]_27710856[PMID]_19141157[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010989","label":"Abnormality of the intrinsic pathway","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001929","label":"Reduced factor XI activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}