{"Name":"Thrombophilia due to thrombin defect","DiseaseID__c":"GARD:0010815","id":10815,"encodedName":"thrombophilia-due-to-thrombin-defect","IsDeleted":false,"Disease_Name_Full__c":"Thrombophilia due to thrombin defect","Xref_IDs__c":"111293003; C3160733; DOID:0080701; DOID:0111907; MEDGEN:463623; MONDO:0008559; OMIM:188050","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008559","Disease_Description__c":"The formation of a blood clot (thrombus) in the lumen of a vein.","GARD_Name__c":"Thrombophilia due to thrombin defect","GARD_Synonym__c":"factor v r2 mutation thrombophilia; prothrombin thrombophilia; prothrombin-related thrombophilia; prothrombin-related thrombophilia (factor ii); thph1; thrombophilia 1 due to thrombin defect; thrombophilia due to factor 2 defect; thrombosis susceptibility; venous thromboembolism, susceptibility to; venous thrombosis, protection against","Curated_Disease_Description_Source__c":"GARD:0010815","Curated_Disease_Description__c":"Prothrombin thrombophilia is a disorder that increases the risk of developing blood clots. Thrombophilia is the term used to describe an increased tendency to form blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. People with thrombophilia can develop clots when they are not needed. These clots can block normal blood flow and cause harm. People who have prothrombin thrombophilia have a higher-than-average risk of developing a type of clot called a deep vein thrombosis, which typically occurs in the blood vessels of the arms or legs. People with prothrombin thrombophilia also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs.  Research suggests that pregnancy loss may be somewhat more likely in people with prothrombin thrombophilia than in those who do not have the condition. Some researchers have suggested that prothrombin thrombophilia may also increase the risk of other complications during pregnancy, though this remains controversial. While many people with prothrombin thrombophilia will never have clotting issues, several factors increase a persons risk of blood clots. Some risk factors that contribute to the development of harmful blood clots include surgery, injury or trauma, air travel, obesity, and a family history of blood clots. Additional risk factors include pregnancy, using contraceptives such as birth control pills or patches that contain estrogen, and receiving post-menopausal hormone replacement therapy. The combination of prothrombin thrombophilia and other clotting disorders may also increase a persons risk.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008559","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Prothrombin thrombophilia is a disorder that increases the risk of developing blood clots. Thrombophilia is the term used to describe an increased tendency to form blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. People with thrombophilia can develop clots when they are not needed. These clots can block normal blood flow and cause harm. People who have prothrombin thrombophilia have a higher-than-average risk of developing a type of clot called a deep vein thrombosis, which typically occurs in the blood vessels of the arms or legs. People with prothrombin thrombophilia also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs.  Research suggests that pregnancy loss may be somewhat more likely in people with prothrombin thrombophilia than in those who do not have the condition. Some researchers have suggested that prothrombin thrombophilia may also increase the risk of other complications during pregnancy, though this remains controversial. While many people with prothrombin thrombophilia will never have clotting issues, several factors increase a persons risk of blood clots. Some risk factors that contribute to the development of harmful blood clots include surgery, injury or trauma, air travel, obesity, and a family history of blood clots. Additional risk factors include pregnancy, using contraceptives such as birth control pills or patches that contain estrogen, and receiving post-menopausal hormone replacement therapy. The combination of prothrombin thrombophilia and other clotting disorders may also increase a persons risk.","Curated_Disease_Description_Source__c":"GARD:0010815","GARD_Synonym__c":"factor v r2 mutation thrombophilia; prothrombin thrombophilia; prothrombin-related thrombophilia; prothrombin-related thrombophilia (factor ii); thph1; thrombophilia 1 due to thrombin defect; thrombophilia due to factor 2 defect; thrombosis susceptibility; venous thromboembolism, susceptibility to; venous thrombosis, protection against","Name":"Thrombophilia due to thrombin defect","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1148","Source__c":"Gene Review","Xref__c":"NBK1148"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=463623","Source__c":"C3160733","Xref__c":"MEDGEN:463623"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080701","Source__c":"MONDO:0008559","Xref__c":"DOID:0080701"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3160733","Source__c":"C3160733","Xref__c":"C3160733"},{"URL__c":"https://www.omim.org/entry/188050","Source__c":"C3160733; MONDO:0008559","Xref__c":"OMIM:188050"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111293003","Source__c":"MONDO:0008559","Xref__c":"111293003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111907","Source__c":"MONDO:0008559","Xref__c":"DOID:0111907"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008559","Source__c":"GARD:0010815","Xref__c":"MONDO:0008559"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F13A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f13a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"F2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MTHFR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mthfr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HABP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:188050","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005305","HPO_Synonym__c":"Blood clot in cerebral vein; Cerebral thrombosis; Cerebral vein thrombosis","HPO_Name__c":"Cerebral venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188050","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188050","Feature__r":{"HPO_Description__c":"Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004419","HPO_Synonym__c":"Recurrent phlebitis; Recurrent thrombosis","HPO_Name__c":"Recurrent thrombophlebitis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188050","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"}},{"Provided_By__c":"OMIM:188050","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"}}],"tags":{},"synonyms":["factor v r2 mutation thrombophilia"," prothrombin thrombophilia"," prothrombin-related thrombophilia"," prothrombin-related thrombophilia (factor ii)"," thph1"," thrombophilia 1 due to thrombin defect"," thrombophilia due to factor 2 defect"," thrombosis susceptibility"," venous thromboembolism, susceptibility to"," venous thrombosis, protection against"]}