{"orpha":436169,"name":"Thrombomodulin-related bleeding disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["THBD-related bleeding disorder","THBD-related coagulopathy","Thrombomodulin-related coagulopathy"],"definition":"A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436169/","orphanet_url":"https://www.orpha.net/en/disease/detail/436169","names":{"fr":{"name":"Maladie hémorragique liée à la thrombomoduline","synonyms":["Coagulopathie liée à THBD","Coagulopathie liée à la thrombomoduline","Maladie hémorragique liée THBD"],"definition":"Coagulopathie génétique rare caractérisée par une tendance marquée aux hémorragies et aux saignements post-traumatiques avec des ecchymoses, des saignements des tissus mous et des muscles, des hémarthroses et des ménorragies, en raison d'une augmentation de la thrombomoduline soluble dans le plasma avec activation ultérieure de la protéine C et diminution du potentiel de génération de thrombine. Les anomalies mises en évidence par des analyses biologiques sont une augmentation marquée de la thrombomoduline plasmatique, une consommation réduite de prothrombine et une diminution de la génération de thrombine."},"de":{"name":"Thrombomodulin-abhängige Blutgerinnungsstörung","synonyms":["THBD-abhängige Blutgerinnungsstörung","THBD-bedingte Koagulopathie","Thrombomodulin-abhängige Gerinnungsstörung"],"definition":"Eine genetisch bedingte Gerinnungsstörung, die durch eine ausgeprägte Blutungsneigung und posttraumatische Blutungen mit leichten Blutergüssen, Weichteil- und Muskelblutungen, Hämarthrosen und Menorrhagie gekennzeichnet ist, die auf einen Anstieg des löslichen Thrombomodulins im Plasma mit nachfolgender Protein-C-Aktivierung und verminderter Thrombinbildung innerhalb eines potenziellen Thrombus zurückzuführen ist. Zu den abnormalen Laborbefunden gehören deutlich erhöhtes Thrombomodulin im Plasma, verringerter Prothrombinverbrauch und verminderte Thrombinbildung."},"es":{"name":"Trastorno de sangrado asociado a trombomodulina","synonyms":["Coagulopatía asociada a la trombomodulina","Coagulopatía asociada al gen THBD","Trastorno de sangrado asociado al gen THBD"],"definition":"Es un trastorno genético de la coagulación poco frecuente caracterizado por una marcada tendencia al sangrado, con frecuentes hemorragias postraumáticas y fácil aparición de hematomas, hemorragia de tejidos blandos y músculos, hemartrosis y menorragia. Todo ello se atribuye a un aumento de la trombomodulina soluble en plasma con la activación subsiguiente de proteína C y reducción de la producción de trombina dentro de un trombo potencial. Las alteraciones de las pruebas analíticas incluyen un marcado aumento de la trombomodulina plasmática un consumo reducido de protrombina y una disminución de la producción de trombina."},"it":{"name":"Malattia emorragica correlata alla trombomodulina","synonyms":["Coagulopatia THBD-correlata","Coagulopatia trombomodulina-correlata","Disturbo emorragico THBD-correlato"],"definition":"Si tratta di una malattia genetica rara della coagulazione, caratterizzata dalla spiccata predisposizione alle emorragie, dai sanguinamenti post-traumatici con tendenza alle ecchimosi, dalle emorragie dei tessuti e dei muscoli, dall'emartrosi e dalla menorragia, secondarie ad un aumento della trombomodulina solubile nel plasma, con la conseguente attivazione della proteina C e la riduzione della produzione di trombina all'interno di un potenziale trombo. Le anomalie evidenziate dagli esami di laboratorio comprendono i livelli molto elevati di trombomodulina nel plasma, la riduzione del consumo di protrombina e la riduzione della produzione di trombina."},"nl":{"name":"Trombomodulinegerelateerde bloedingsstoornis","synonyms":["THBD-gerelateerde bloedingsstoornis","THBD-gerelateerde coagulopathie","Trombomodulinegerelateerde coagulopathie"],"definition":"Een zeldzame, genetische stollingsstoornis, gekarakteriseerd door opvallende bloedingsneiging en posttraumatische bloeding met gevoeligheid voor kneuzing, bloeding van weke delen en spieren, hemartrose, en menorragie als gevolg van een toename van oplosbaar trombomoduline in plasma met daaropvolgende activatie van proteïne C en verminderde trombinegeneratie binnenin een potentiële trombus. Abnormale laboratoriumbevindingen zijn onder meer duidelijk verhoogd gehalte van trombomoduline in plasma, verminderde consumptie van protrombine, en verminderde trombinegeneratie."},"pt":{"name":"Doença hemorrágica relacionada com a trombomodulina"},"pl":{"name":"Zaburzenia krzepnięcia zależne od trombomoduliny","synonyms":["Koagulopatia zależna od THBD","Koagulopatia zależna od trombomoduliny","Zaburzenia krzepnięcia zależne od THBD"]},"cs":{"name":"Thrombomodulin-vázaná krvácivá porucha","synonyms":["THBD-vázané krvácivé stavy","THBD-vázaná koagulopatie","Koagulopatie související s trombomodulinem"]},"uk":{"name":"Тромбомодулінові розлади кровотечі","synonyms":["Розлад кровотечі, повязаний з THBD","Коагулопатія, повязана з THBD","Тромбомодулінозалежна коагулопатія"],"definition":"A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation."},"zh":{"name":"血栓调节蛋白相关的出血性疾病","synonyms":["血栓调节蛋白相关的凝血障碍"],"definition":"一种罕见的遗传性凝血障碍，其由于血浆中可溶性血栓调节蛋白的增加以及随后的蛋白C活化和潜在血栓中凝血酶生成的减少导致的明显的出血趋势和创伤后出血，容易瘀伤，软组织和肌肉出血，关节积血和月经过多。实验室检查异常包括血浆血栓调节蛋白明显升高，凝血酶原消耗减少和凝血酶生成减少。"},"tr":{"name":"Trombomodulin-ilişkili kanama bozukluğu","synonyms":["THBD ilişkili koagülopati","THBD ilişkili kanama bozukluğu","Trombomodulin-ilişkili koagülopati"]}},"xrefs":[{"source":"OMIM","code":"614486","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013775","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566057","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280976","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":"THBD","name":"thrombomodulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25049278[PMID]_25564403[PMID]","hgnc":"11784","ensembl":"ENSG00000178726","omim":"188040","loci":["20p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"25049278[PMID]_25564403[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25049278[PMID]_25564403[PMID]"}],"phenotypes":null}