{"orpha":3324,"name":"Familial thrombomodulin anomalies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3324/","orphanet_url":"https://www.orpha.net/en/disease/detail/3324","names":{"fr":{"name":"Anomalies de la thrombomoduline","definition":"Coagulopathie rare potentiellement létale, d'origine génétique, caractérisée par un risque accru de formation de caillots sanguins chez plusieurs membres d'une famille en raison d'une mutation du gène de la thrombomoduline. Les patients peuvent présenter une maladie thromboembolique veineuse, un infarctus du myocarde prématuré et/ou une thrombose artérielle."},"de":{"name":"Thrombomodulin-Anomalie, genetisch bedingte","synonyms":["Thrombomodulin-Anomalie, familiäre"]},"es":{"name":"Anomalías familiares de la trombomodulina","definition":"Dan lugar a un trastorno genético de la coagulación poco frecuente, de amenaza para la vida, caracterizado por un aumento del riesgo de formación de coágulos sanguíneos en varios miembros de una familia debido a una mutación en el gen de la trombomodulina. Los afectados pueden manifestar enfermedad tromboembólica venosa, infarto de miocardio prematuro y/o trombosis arterial."},"it":{"name":"Anomalie familiari della trombomodulina","definition":"Le anomalie familiari della trombomodulina sono difetti genetici rari e potenzialmente letale della coagulazione, caratterizzati dalla predisposizione alla formazione di coaguli in più membri della stessa famiglia, secondari a mutazioni nel gene della trombomodulina. I pazienti possono presentare tromboembolismi venosi, infarto miocardico precoce e/o trombosi arteriosa."},"nl":{"name":"Familiale trombomoduline-anomalieën","definition":"Familiale trombomoduline-anomalieën is een zeldzame, levensbedreigende, genetische coagulatiestoornis die gekarakteriseerd wordt door een verhoogd risico op vorming van bloedklonters in verschillende leden van een familie door een mutatie in het gen voor trombomoduline. Patiënten vertonen mogelijk veneuze trombo-embolische ziekte, prematuur hartinfarct en/of arteriële trombose."},"pt":{"name":"Anomalias da trombomodulina familiares"},"pl":{"name":"Rodzinne defekty trombomoduliny","definition":"*Rodzinne defekty trombomoduliny należą do rzadkich, zagrażających życiu, genetycznie uwarunkowanych zaburzeń krzepnięcia krwi. Charakteryzują się zwiększonym ryzykiem powstania zakrzepów krwi u kilku członków jednej rodziny, które jest związane z mutacją genu trombomoduliny. Może wystąpić żylna choroba zakrzepowo-zatorowa, przedwczesny zawał mięśnia sercowego i/lub zakrzepica tętnicza."},"cs":{"name":"Familiární anomálie v trombomodulinu"},"uk":{"name":"Сімейні аномалії тромбомодуліну","definition":"A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis."},"zh":{"name":"家族性血栓调节蛋白异常"},"tr":{"name":"ailesel trombomodülin anomalileri"}},"xrefs":[{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1902819581"},{"source":"MONDO","code":"0018047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536900","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931365","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5195","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}