{"Name":"Autoimmune thrombocytopenic purpura","DiseaseID__c":"GARD:0005194","id":5194,"encodedName":"autoimmune-thrombocytopenic-purpura","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune thrombocytopenic purpura","Xref_IDs__c":"C0398650; C3446; D69.3; DOID:8924; MEDGEN:584986; MONDO:0008558; OMIM:188030; ORPHA:3002","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008558","Disease_Description__c":"An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.","GARD_Name__c":"Autoimmune thrombocytopenic purpura","GARD_Synonym__c":"idiopathic thrombocytopenia purpura; immune thrombocytopenic purpura; itp; primary thrombocytopenic purpura; thrombocytopenic purpura, autoimmune","Curated_Disease_Description_Source__c":"GARD:0005194","Curated_Disease_Description__c":"Immune thrombocytopenia, also known as Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3002","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008558","ORPHANET_ID__c":"ORPHA:3002","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia inmune","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trombocitopenia inmune","Spanish_GARD_Synonym__c":"itp; pti; púrpura trombocitopénica inmune","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":"Immune thrombocytopenia, also known as Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.","Curated_Disease_Description_Source__c":"GARD:0005194","GARD_Synonym__c":"idiopathic thrombocytopenia purpura; immune thrombocytopenic purpura; itp; primary thrombocytopenic purpura; thrombocytopenic purpura, autoimmune","Name":"Autoimmune thrombocytopenic purpura","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.org/"},{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"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:3002"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0398650"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005194","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/3002","Source__c":"C0398650; MONDO:0008558; ORPHA:3002","Xref__c":"ORPHA:3002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398650","Source__c":"C0398650","Xref__c":"C0398650"},{"URL__c":"https://www.omim.org/entry/188030","Source__c":"C0398650; MONDO:0008558; ORPHA:3002","Xref__c":"OMIM:188030"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=584986","Source__c":"C0398650","Xref__c":"MEDGEN:584986"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8924","Source__c":"MONDO:0008558","Xref__c":"DOID:8924"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3446","Source__c":"C0398650; MONDO:0008558","Xref__c":"C3446"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016553","Source__c":"C0398650","Xref__c":"D016553"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008558","Source__c":"GARD:0005194","Xref__c":"MONDO:0008558"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D69.3","Source__c":"MONDO:0008558","Xref__c":"D69.3"},{"URL__c":"https://medlineplus.gov/genetics/condition/immune-thrombocytopenia"},{"URL__c":"https://www.nhlbi.nih.gov/health/immune-thrombocytopenia"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034189","HPO_Synonym__c":"Anti-thyrotropin receptor antibody; Anti-TSH receptor antibody positivity; TRAbs","HPO_Name__c":"Anti-thyroid-stimulating hormone receptor antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034062","HPO_Synonym__c":"IAA positivity; Insulin autoantibodies","HPO_Name__c":"Anti-insulin antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025379","HPO_Synonym__c":"Anti-TPO antibody positivity; Antimicrosomal antibodies; Antimicrosomal antibody positivity; TPOAbs","HPO_Name__c":"Anti-thyroid peroxidase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000170","HPO_Synonym__c":"Antiplatelet antibodies present","HPO_Name__c":"Anti-platelet antigen antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034063","HPO_Synonym__c":"Anti-IA2 antibody positivity; Anti-IA2A; ICA512","HPO_Name__c":"Anti-islet antigen-2 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding from vessels of the various tissues of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011885","HPO_Synonym__c":"Bleeding from the eye","HPO_Name__c":"Hemorrhage of the eye","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030908","HPO_Synonym__c":"Anti-liver kidney microsomal type 1 antibody positivity; Anti-LKM-1 positive; Anti-LKM1 antibody positivity; Anti-type I liver-kidney microsomal antibody positivity","HPO_Name__c":"Liver kidney microsome type 1 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000967","HPO_Name__c":"Petechiae","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034263","HPO_Name__c":"Abnormal vaginal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025329","HPO_Synonym__c":"Anti-GAD antibody positivity","HPO_Name__c":"Anti-glutamic acid decarboxylase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032069","HPO_Synonym__c":"Anti-thyroid globulin antibody positivity; TgAbs","HPO_Name__c":"Anti-thyroglobulin antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3002","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:3002","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3002","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Hematology"],"Specialist":["Hematology","Pediatrics"]},"synonyms":["idiopathic thrombocytopenia purpura"," immune thrombocytopenic purpura"," itp"," primary thrombocytopenic purpura"," thrombocytopenic purpura, autoimmune"]}