{"Name":"Thrombomodulin-related bleeding disorder","DiseaseID__c":"GARD:0017726","id":17726,"encodedName":"thrombomodulin-related-bleeding-disorder","IsDeleted":false,"Disease_Name_Full__c":"Thrombomodulin-related bleeding disorder","Xref_IDs__c":"1197595004; C3280976; C566057; DOID:0111908; MEDGEN:482606; MONDO:0013775; OMIM:614486; ORPHA:436169","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:436169","Disease_Description__c":"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.","GARD_Name__c":"Thrombomodulin-related bleeding disorder","GARD_Synonym__c":"thbd (thrombomodulin) related bleeding disorder; thbd-related bleeding disorder; thbd-related coagulopathy; thph12; thrombomodulin-related coagulopathy; thrombophilia 12 due to thrombomodulin defect; thrombophilia due to thrombomodulin defect","Curated_Disease_Description_Source__c":"ORPHA:436169","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:436169","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013775","ORPHANET_ID__c":"ORPHA:436169","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno de sangrado asociado a trombomodulina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trastorno de sangrado asociado a trombomodulina","Spanish_GARD_Synonym__c":"coagulopatía asociada a la trombomodulina; coagulopatía asociada al gen thbd; trastorno de sangrado asociado al gen thbd","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"ORPHA:436169","GARD_Synonym__c":"thbd (thrombomodulin) related bleeding disorder; thbd-related bleeding disorder; thbd-related coagulopathy; thph12; thrombomodulin-related coagulopathy; thrombophilia 12 due to thrombomodulin defect; thrombophilia due to thrombomodulin defect","Name":"Thrombomodulin-related bleeding disorder","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:436169"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/436169","Source__c":"C3280976; MONDO:0013775; ORPHA:436169","Xref__c":"ORPHA:436169"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111908","Source__c":"MONDO:0013775","Xref__c":"DOID:0111908"},{"URL__c":"https://www.omim.org/entry/614486","Source__c":"C3280976; MONDO:0013775; ORPHA:436169","Xref__c":"OMIM:614486"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482606","Source__c":"C3280976","Xref__c":"MEDGEN:482606"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566057","Source__c":"MONDO:0013775","Xref__c":"C566057"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280976","Source__c":"C3280976","Xref__c":"C3280976"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013775","Source__c":"GARD:0017726","Xref__c":"MONDO:0013775"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197595004","Source__c":"C3280976","Xref__c":"1197595004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"THBD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614486","Feature__r":{"HPO_Description__c":"An abnormality of coagulation associated with an increased risk of thrombosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100724","HPO_Synonym__c":"Blood hyperviscosity; Thrombophilia","HPO_Name__c":"Hypercoagulability","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614486","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002204","HPO_Synonym__c":"Blood clot in artery of lung","HPO_Name__c":"Pulmonary embolism","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614486","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002625","HPO_Synonym__c":"Blood clot in a deep vein; Deep vein thrombosis; Multiple deep venous thrombosis","HPO_Name__c":"Deep venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["thbd (thrombomodulin) related bleeding disorder"," thbd-related bleeding disorder"," thbd-related coagulopathy"," thph12"," thrombomodulin-related coagulopathy"," thrombophilia 12 due to thrombomodulin defect"," thrombophilia due to thrombomodulin defect"]}