{"orpha":330,"name":"Congenital factor XII deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital Hageman factor deficiency"],"definition":"A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330/","orphanet_url":"https://www.orpha.net/en/disease/detail/330","names":{"fr":{"name":"Déficit congénital en facteur XII","synonyms":["Déficit congénital en facteur Hageman"],"definition":"Le déficit congénital en facteur XII est un trouble systémique de la voie hémostatique, autosomique récessif, causé par un déficit en facteur de coagulation XII (FXII ou facteur Hageman). Il est asymptomatique ou se caractérise par un allongement du temps de thromboplastine partielle activée, et par un risque thromboembolique accru. Le déficit en FXII est fortement associé à des avortements spontanés à répétition."},"de":{"name":"Faktor XII-Mangel, kongenitaler","synonyms":["Hageman-Faktor-Mangel, kongenitaler","Hageman-Syndrom"]},"es":{"name":"Deficiencia congénita de factor XII","synonyms":["Deficiencia congénita de factor Hageman"],"definition":"Es una disfunción sistémica poco frecuente de la vía hemostática, autosómica recesiva, debida a un defecto en el factor de coagulación XII (FXII o factor de Hageman). Puede permanecer asintomática o estar caracterizada por un tiempo de tromboplastina parcial activada prolongado y un mayor riesgo de tromboembolismo. La deficiencia de FXII está fuertemente asociada a abortos primarios recurrentes."},"it":{"name":"Deficit congenito del fattore XII","synonyms":["Deficit congenito del fattore di Hageman"]},"nl":{"name":"Congenitale factor XII-deficiëntie","synonyms":["Congenitale Hageman-factordeficiëntie","Congenitale factor 12-deficiëntie"],"definition":"Een zeldzame, autosomaal recessieve, systemische disfunctie van de hemostatische signaalweg als gevolg van een defect van coagulatiefactor XII (FXII of Hageman-factor), die asymptomatisch is of gekarakteriseerd wordt door een verhoogde geactiveerde partiële tromboplastinetijd en een verhoogd risico op trombo-embolie. FXII-deficiëntie is sterk geassocieerd met primaire herhaalde miskramen."},"pt":{"name":"Deficiência de fator XII congénita","synonyms":["Deficiência de fator de Hagemann"]},"pl":{"name":"Wrodzony Niedobór czynnika XII","synonyms":["Wrodzony Niedobór czynnika Hagemana"]},"cs":{"name":"Vrozený deficit faktoru XII","synonyms":["Vrozený deficit Hagemanova faktoru"]},"uk":{"name":"Вроджений дефіцит фактора XII","synonyms":["Вроджений дефіцит фактора Хагемана"],"definition":"A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions."},"zh":{"name":"先天性XII因子缺乏症","synonyms":["先天性Hageman因子缺乏症"]},"tr":{"name":"Doğumsal faktör XII eksikliği","synonyms":["Doğumsal Hageman faktör eksikliği"]}},"xrefs":[{"source":"OMIM","code":"234000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B15","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2086126201"},{"source":"MONDO","code":"0009315","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005175","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015526","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6558","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":248361,"name":"Rare thrombotic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F12","name":"coagulation factor XII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20386432[PMID]_22043782[PMID]","hgnc":"3530","ensembl":"ENSG00000131187","omim":"610619","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-07","source":"15013868[PMID]_24597288[PMID]_1905067[PMID]_23492916[PMID]_22043782[PMID]_26709783[PMID]","terms":[{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004841","label":"Reduced factor XII activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200067","label":"Recurrent spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007985","label":"Retinal arteriolar occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012636","label":"Retinal vein occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001026","label":"Penetrating foot ulcers","frequency":"Very rare (<4-1%)","criteria":null}]}}