{"Name":"Hereditary antithrombin deficiency","DiseaseID__c":"GARD:0006148","id":6148,"encodedName":"hereditary-antithrombin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hereditary antithrombin deficiency","Xref_IDs__c":"36351005; C0272375; C98815; D020152; DOID:3755; MEDGEN:75781; MONDO:0013144; OMIM:613118; ORPHA:82","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013144","Disease_Description__c":"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).","GARD_Name__c":"Hereditary antithrombin deficiency","GARD_Synonym__c":"anti-thrombin iii deficiency; antithrombin 3 deficiency; antithrombin deficiency; antithrombin iii deficiency; at (antithrombin) deficiency; at iii deficiency; at3d; congenital antithrombin iii deficiency; congenital at-iii deficiency; decreased antithrombin iii; hereditary thrombophilia due to congenital antithrombin 3 deficiency; hereditary thrombophilia due to congenital antithrombin deficiency; inherited antithrombin deficiency; reduced antithrombin iii activity; thrombophilia 7 due to antithrombin iii deficiency; thrombophilia due to antithrombin 3 deficiency; thrombophilia due to antithrombin iii deficiency","Curated_Disease_Description_Source__c":"GARD:0006148","Curated_Disease_Description__c":"Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries. About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. These clots usually develop after adolescence. Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. These factors include increasing age, surgery, or immobility. The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. They also may have an increased risk for pregnancy loss (miscarriage) or stillbirth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:82","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013144","ORPHANET_ID__c":"ORPHA:82","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombofilia hereditaria por deficiencia congénita de antitrombina","Spanish_Description_Source__c":"ORPHA:82","Spanish_Description__c":"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).","Spanish_Disease_Name__c":"trombofilia hereditaria por deficiencia congénita de antitrombina","Spanish_GARD_Synonym__c":"trombofilia hereditaria por deficiencia congénita de antitrombina 3","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":"Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries. About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. These clots usually develop after adolescence. Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. These factors include increasing age, surgery, or immobility. The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. They also may have an increased risk for pregnancy loss (miscarriage) or stillbirth.","Curated_Disease_Description_Source__c":"GARD:0006148","GARD_Synonym__c":"anti-thrombin iii deficiency; antithrombin 3 deficiency; antithrombin deficiency; antithrombin iii deficiency; at (antithrombin) deficiency; at iii deficiency; at3d; congenital antithrombin iii deficiency; congenital at-iii deficiency; decreased antithrombin iii; hereditary thrombophilia due to congenital antithrombin 3 deficiency; hereditary thrombophilia due to congenital antithrombin deficiency; inherited antithrombin deficiency; reduced antithrombin iii activity; thrombophilia 7 due to antithrombin iii deficiency; thrombophilia due to antithrombin 3 deficiency; thrombophilia due to antithrombin iii deficiency","Name":"Hereditary antithrombin deficiency","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:82"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:82"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0272375"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006148","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020152","Source__c":"C0272375; MONDO:0013144","Xref__c":"D020152"},{"URL__c":"https://www.orpha.net/en/disease/detail/82","Source__c":"C0272375; MONDO:0013144","Xref__c":"ORPHA:82"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272375","Source__c":"C0272375","Xref__c":"C0272375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=36351005","Source__c":"C0272375; MONDO:0013144","Xref__c":"36351005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3755","Source__c":"MONDO:0013144","Xref__c":"DOID:3755"},{"URL__c":"https://www.omim.org/entry/613118","Source__c":"C0272375; MONDO:0013144; ORPHA:82","Xref__c":"OMIM:613118"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75781","Source__c":"C0272375","Xref__c":"MEDGEN:75781"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001976","Source__c":"C0272375","Xref__c":"HP:0001976"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013144","Source__c":"GARD:0006148","Xref__c":"MONDO:0013144"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98815","Source__c":"C0272375","Xref__c":"C98815"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/serpinc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of coagulation related to a decreased concentration of antithrombin-III.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001976","HPO_Synonym__c":"Anti-thrombin III deficiency; Antithrombin III deficiency; Decreased antithrombin III","HPO_Name__c":"Reduced antithrombin III activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","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"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002638","HPO_Name__c":"Superficial thrombophlebitis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An obstruction in the veins of the liver caused by a blood clot (thrombosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030243","HPO_Synonym__c":"Blood clot in liver vein; Hepatic venous thrombosis","HPO_Name__c":"Hepatic vein thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012636","HPO_Synonym__c":"Retinal vein occlusion","HPO_Name__c":"Retinal venous occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004831","HPO_Name__c":"Recurrent thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004420","HPO_Synonym__c":"Blood clot in artery","HPO_Name__c":"Arterial thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030248","HPO_Synonym__c":"Blood clot in mesentertic vein","HPO_Name__c":"Mesenteric venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","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":"ORPHA:82","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030242","HPO_Synonym__c":"Blood clot in portal vein","HPO_Name__c":"Portal vein thrombosis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:82","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:82","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040246","HPO_Name__c":"Reduced antithrombin antigen","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Rheumatology","Hematology","Orthopedics","Pediatrics"]},"synonyms":["anti-thrombin iii deficiency"," antithrombin 3 deficiency"," antithrombin deficiency"," antithrombin iii deficiency"," at (antithrombin) deficiency"," at iii deficiency"," at3d"," congenital antithrombin iii deficiency"," congenital at-iii deficiency"," decreased antithrombin iii"," hereditary thrombophilia due to congenital antithrombin 3 deficiency"," hereditary thrombophilia due to congenital antithrombin deficiency"," inherited antithrombin deficiency"," reduced antithrombin iii activity"," thrombophilia 7 due to antithrombin iii deficiency"," thrombophilia due to antithrombin 3 deficiency"," thrombophilia due to antithrombin iii deficiency"]}