{"Name":"Heparin-induced thrombocytopenia","DiseaseID__c":"GARD:0002650","id":2650,"encodedName":"heparin-induced-thrombocytopenia","IsDeleted":false,"Disease_Name_Full__c":"Heparin-induced thrombocytopenia","Xref_IDs__c":"73397007; C0272285; C99111; HP:0011874; MEDGEN:124423; MONDO:0018048; ORPHA:3325","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018048","Disease_Description__c":"A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.","GARD_Name__c":"Heparin-induced thrombocytopenia","GARD_Synonym__c":"hat; heparin induced thrombocytopenia; heparin-associated thrombocytopenia; heparin-induced thrombocytopenia (disease); heparin-induced thrombocytopenia type 2; hit","Curated_Disease_Description_Source__c":"GARD:0002650","Curated_Disease_Description__c":"Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin. It can lead to serious complications. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3325","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018048","ORPHANET_ID__c":"ORPHA:3325","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia clásica inducida por heparina","Spanish_Description_Source__c":"ORPHA:3325","Spanish_Description__c":"Es un trastorno protrombótico de mecanismo inmune e inducido por fármacos, poco frecuente y asociado a trombocitopenia y trombosis venosa y/o arterial.","Spanish_Disease_Name__c":"trombocitopenia clásica inducida por heparina","Spanish_GARD_Synonym__c":"tih clásica; trombocitopenia clásica asociada a heparina; trombocitopenia inmune inducida por heparina","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":"Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin. It can lead to serious complications. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy.","Curated_Disease_Description_Source__c":"GARD:0002650","GARD_Synonym__c":"hat; heparin induced thrombocytopenia; heparin-associated thrombocytopenia; heparin-induced thrombocytopenia (disease); heparin-induced thrombocytopenia type 2; hit","Name":"Heparin-induced thrombocytopenia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.org/"}],"GARD_Disease_Tag__c":[{"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3325"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272285","Source__c":"C0272285","Xref__c":"C0272285"},{"URL__c":"https://www.orpha.net/en/disease/detail/3325","Source__c":"C0272285; MONDO:0018048; ORPHA:3325","Xref__c":"ORPHA:3325"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124423","Source__c":"C0272285","Xref__c":"MEDGEN:124423"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=73397007","Source__c":"C0272285; MONDO:0018048","Xref__c":"73397007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018048","Source__c":"GARD:0002650","Xref__c":"MONDO:0018048"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011874","Source__c":"C0272285","Xref__c":"HP:0011874"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99111","Source__c":"C0272285","Xref__c":"C99111"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","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:3325","HPO_Frequency__c":"Frequent (30-79%)","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:3325","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040231","HPO_Name__c":"Abnormal onset of bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Occasional (5-29%)","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:3325","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:3325","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A abnormal increase in the inflammatory response to injury or infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012649","HPO_Name__c":"Increased inflammatory response","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3325","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A increased concentration of serotonin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003144","HPO_Synonym__c":"Increased serum serotonin","HPO_Name__c":"Increased serum serotonin","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005521","HPO_Name__c":"Disseminated intravascular coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002637","HPO_Synonym__c":"Brain ischemia; Cerebrovascular ischemia; Disruption of blood oxygen supply to brain","HPO_Name__c":"Cerebral ischemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3325","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Specialist":["Rheumatology","Hematology","Vascular Medicine","Pediatrics"],"Disease Category":["Hematology"]},"synonyms":["hat"," heparin induced thrombocytopenia"," heparin-associated thrombocytopenia"," heparin-induced thrombocytopenia (disease)"," heparin-induced thrombocytopenia type 2"," hit"]}