{"orpha":82,"name":"Hereditary thrombophilia due to congenital antithrombin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary thrombophilia due to congenital antithrombin 3 deficiency"],"definition":"Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-82/","orphanet_url":"https://www.orpha.net/en/disease/detail/82","names":{"fr":{"name":"Thrombophilie héréditaire due au déficit congénital en antithrombine","synonyms":["Thrombophilie héréditaire due au déficit congénital en antithrombine 3"],"definition":"La thrombophilie héréditaire due au déficit congénital en antithrombine est une maladie génétique et hématologique rare caractérisée par une réduction du taux plasmatique de l'activité antithrombine, conduisant à une altération de l'inactivation de la thrombine et du facteur Xa. Les patients présentent un risque accru de thromboembolie veineuse, affectant généralement les veines profondes des bras, des jambes et du système pulmonaire, et parfois d'autres territoires veineux (veines ou sinus cérébraux, veines mésentériques, portales, hépatiques, rénales et/ou rétiniennes)."},"de":{"name":"Hereditäre Thrombophilie durch kongenitalen Antithrombin-Mangel","synonyms":["Hereditäre Thrombophilie durch kongenitalen Antithrombin 3-Mangel"],"definition":"Die hereditäre Thrombophilie aufgrund eines angeborenen Antithrombinmangels ist eine seltene, genetisch bedingte, hämatologische Erkrankung, die durch eine verminderte Antithrombinaktivität im Plasma gekennzeichnet ist und zu einer beeinträchtigten Inaktivierung von Thrombin und Faktor Xa führt. Die Patienten haben ein erhöhtes Risiko für venöse Thromboembolien, in der Regel in den tiefen Venen der Arme, Beine und des pulmonalen Systems und gelegentlich auch in anderen Venengebieten (z. B. Hirnvenen oder Sinus-, Mesenterial-, Portal-, Leber-, Nieren- und/oder Netzhautvenen)."},"es":{"name":"Trombofilia hereditaria por deficiencia congénita de antitrombina","synonyms":["Trombofilia hereditaria por deficiencia congénita de antitrombina 3"],"definition":"La trombofilia hereditaria por déficit de antitrombina es una enfermedad hematológica, poco frecuente, caracterizada por niveles disminuidos de actividad antitrombina en plasma, lo que da como resultado una alteración de la desactivación de la trombina y del factor Xa. Los afectados tienen mayor riesgo de tromboembolismo venoso, generalmente de las venas profundas de brazos, piernas, sistema pulmonar y, ocasionalmente, de otros territorios venosos (venas cerebrales o sinusales, mesentéricas, portales, hepáticas, renales y/o retinianas)."},"it":{"name":"Trombofilia ereditaria da deficit congenito di antitrombina","synonyms":["Trombofilia ereditaria da deficit congenito di antitrombina 3"],"definition":"La trombofilia ereditaria da deficit congenito di antitrombina è una malattia ematologica genetica rara, caratterizzata da una riduzione dei livelli di attività dell'antitrombina nel plasma, che causa un'alterazione dell'inattivazione della trombina e del fattore Xa. I pazienti presentano un rischio aumentato di tromboembolismo venoso, di solito nelle vene profonde delle braccia, delle gambe e del sistema polmonare e, raramente, in altre aree venose (vene o seni cerebrali, vene mesenteriche, portali, epatiche, renali e/o retiniche)."},"nl":{"name":"Erfelijke trombofilie als gevolg van congenitale antitrombinedeficiëntie","synonyms":["Erfelijke trombofilie als gevolg van congenitale antitrombine 3-deficiëntie"],"definition":"Erfelijke trombofilie als gevolg van congenitale antitrombinedeficiëntie is een zeldzame, genetische, hematologische ziekte die gekarakteriseerd wordt door een verminderde activiteit van antitrombine in het plasma, wat leidt tot een verstoorde inactivatie van trombine en factor Xa. Patiënten hebben een verhoogd risico op veneuze trombo-embolie, meestal in de diepe aders van de armen, de benen en het pulmonale systeem en, soms, in andere veneuze gebieden (e.g. cerebrale, sinus-, mesenterische, poort-, hepatische, renale en/of retinale aders)."},"pt":{"name":"Trombofilia hereditária por deficiência de antitrombina congénita"},"pl":{"name":"Dziedziczna małopłytkowość z powodu wrodzonego niedoboru antytrombiny","synonyms":["Dziedziczna trombofilia spowodowana wrodzonym niedoborem antytrombiny 3"]},"cs":{"name":"Hereditární trombofilie způsobená vrozeným nedostatkem antithrombinu","synonyms":["Hereditární trombofilie způsobená vrozeným nedostatkem antithrombinu III"]},"uk":{"name":"Спадкова тромбофілія внаслідок вродженого дефіциту антитромбіну","synonyms":["Спадкова тромбофілія внаслідок вродженого дефіциту антитромбіну 3"],"definition":"Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."},"zh":{"name":"遗传性抗凝血酶缺乏所致遗传性易栓症","synonyms":["遗传性抗凝血酶缺乏所致遗传性易栓症"]},"tr":{"name":"Doğumsal antitrombin eksikliğine bağlı kalıtsal trombofili","synonyms":["Doğumsal antitrombin 3 eksikliğine bağlı kalıtsal trombofili"]}},"xrefs":[{"source":"OMIM","code":"613118","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3B61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1957035597"},{"source":"MONDO","code":"0013144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2586031","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":217454,"name":"Rare hereditary thrombophilia","classifications":[156,194,196,199]},{"orpha":250811,"name":"Serpinopathy with loss of serpin function","classifications":[156]}],"children":[],"genes":[{"symbol":"SERPINC1","name":"serpin family C member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24684277[PMID]","hgnc":"775","ensembl":"ENSG00000117601","omim":"107300","loci":["1q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-19","source":"24684277[PMID]_31175794[PMID]_29784539[PMID]_19141163[PMID]_10377836[PMID]","terms":[{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040246","label":"Reduced antithrombin antigen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031437","label":"Pregnancy exposure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004831","label":"Recurrent thromboembolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002638","label":"Superficial thrombophlebitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030243","label":"Hepatic vein thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030248","label":"Mesenteric venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030242","label":"Portal vein thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200067","label":"Recurrent spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012636","label":"Retinal vein occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005305","label":"Cerebral venous thrombosis","frequency":"Very rare (<4-1%)","criteria":null}]}}